Cancer risks associated with BRCA1 and BRCA2 pathogenic variants
PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Conso...
Ausführliche Beschreibung
Autor*in: |
Li, Shuai [verfasserIn] Hamann, Ute [verfasserIn] Sutter, Christian [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
January 25, 2022 |
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Anmerkung: |
Gesehen am 07.09.2022 |
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Umfang: |
14 |
Übergeordnetes Werk: |
Enthalten in: Journal of clinical oncology - Alexandria, Va. : American Society of Clinical Oncology, 1983, 40(2022), 14, Seite 1529-1541 |
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Übergeordnetes Werk: |
volume:40 ; year:2022 ; number:14 ; pages:1529-1541 ; extent:14 |
Links: |
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DOI / URN: |
10.1200/JCO.21.02112 |
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Katalog-ID: |
1815964839 |
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245 | 1 | 0 | |a Cancer risks associated with BRCA1 and BRCA2 pathogenic variants |c Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD |
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520 | |a PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. | ||
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10.1200/JCO.21.02112 doi (DE-627)1815964839 (DE-599)KXP1815964839 (OCoLC)1361696693 DE-627 ger DE-627 rda eng Li, Shuai verfasserin aut Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD one two Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants January 25, 2022 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 07.09.2022 PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Hamann, Ute verfasserin (DE-588)1074024230 (DE-627)830169970 (DE-576)161285090 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Enthalten in Journal of clinical oncology Alexandria, Va. : American Society of Clinical Oncology, 1983 40(2022), 14, Seite 1529-1541 Online-Ressource (DE-627)313116962 (DE-600)2005181-5 (DE-576)090887018 1527-7755 nnns volume:40 year:2022 number:14 pages:1529-1541 extent:14 https://doi.org/10.1200/JCO.21.02112 Verlag Resolving-System lizenzpflichtig Volltext https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2414 GBV_ILN_2424 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 40 2022 14 1529-1541 14 2013 01 DE-16-250 4185284659 00 --%%-- --%%-- --%%-- --%%-- l01 07-09-22 2013 01 DE-16-250 00 s hd2022 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_102 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1505529654 Hamann, Ute 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_44 2013 01 DE-16-250 05 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 05 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_84 |
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10.1200/JCO.21.02112 doi (DE-627)1815964839 (DE-599)KXP1815964839 (OCoLC)1361696693 DE-627 ger DE-627 rda eng Li, Shuai verfasserin aut Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD one two Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants January 25, 2022 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 07.09.2022 PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Hamann, Ute verfasserin (DE-588)1074024230 (DE-627)830169970 (DE-576)161285090 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Enthalten in Journal of clinical oncology Alexandria, Va. : American Society of Clinical Oncology, 1983 40(2022), 14, Seite 1529-1541 Online-Ressource (DE-627)313116962 (DE-600)2005181-5 (DE-576)090887018 1527-7755 nnns volume:40 year:2022 number:14 pages:1529-1541 extent:14 https://doi.org/10.1200/JCO.21.02112 Verlag Resolving-System lizenzpflichtig Volltext https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2414 GBV_ILN_2424 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 40 2022 14 1529-1541 14 2013 01 DE-16-250 4185284659 00 --%%-- --%%-- --%%-- --%%-- l01 07-09-22 2013 01 DE-16-250 00 s hd2022 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_102 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1505529654 Hamann, Ute 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_44 2013 01 DE-16-250 05 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 05 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_84 |
allfields_unstemmed |
10.1200/JCO.21.02112 doi (DE-627)1815964839 (DE-599)KXP1815964839 (OCoLC)1361696693 DE-627 ger DE-627 rda eng Li, Shuai verfasserin aut Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD one two Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants January 25, 2022 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 07.09.2022 PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Hamann, Ute verfasserin (DE-588)1074024230 (DE-627)830169970 (DE-576)161285090 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Enthalten in Journal of clinical oncology Alexandria, Va. : American Society of Clinical Oncology, 1983 40(2022), 14, Seite 1529-1541 Online-Ressource (DE-627)313116962 (DE-600)2005181-5 (DE-576)090887018 1527-7755 nnns volume:40 year:2022 number:14 pages:1529-1541 extent:14 https://doi.org/10.1200/JCO.21.02112 Verlag Resolving-System lizenzpflichtig Volltext https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2414 GBV_ILN_2424 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 40 2022 14 1529-1541 14 2013 01 DE-16-250 4185284659 00 --%%-- --%%-- --%%-- --%%-- l01 07-09-22 2013 01 DE-16-250 00 s hd2022 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_102 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1505529654 Hamann, Ute 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_44 2013 01 DE-16-250 05 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 05 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_84 |
allfieldsGer |
10.1200/JCO.21.02112 doi (DE-627)1815964839 (DE-599)KXP1815964839 (OCoLC)1361696693 DE-627 ger DE-627 rda eng Li, Shuai verfasserin aut Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD one two Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants January 25, 2022 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 07.09.2022 PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Hamann, Ute verfasserin (DE-588)1074024230 (DE-627)830169970 (DE-576)161285090 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Enthalten in Journal of clinical oncology Alexandria, Va. : American Society of Clinical Oncology, 1983 40(2022), 14, Seite 1529-1541 Online-Ressource (DE-627)313116962 (DE-600)2005181-5 (DE-576)090887018 1527-7755 nnns volume:40 year:2022 number:14 pages:1529-1541 extent:14 https://doi.org/10.1200/JCO.21.02112 Verlag Resolving-System lizenzpflichtig Volltext https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2414 GBV_ILN_2424 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 40 2022 14 1529-1541 14 2013 01 DE-16-250 4185284659 00 --%%-- --%%-- --%%-- --%%-- l01 07-09-22 2013 01 DE-16-250 00 s hd2022 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_102 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1505529654 Hamann, Ute 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_44 2013 01 DE-16-250 05 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 05 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_84 |
allfieldsSound |
10.1200/JCO.21.02112 doi (DE-627)1815964839 (DE-599)KXP1815964839 (OCoLC)1361696693 DE-627 ger DE-627 rda eng Li, Shuai verfasserin aut Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD one two Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants January 25, 2022 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Gesehen am 07.09.2022 PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Hamann, Ute verfasserin (DE-588)1074024230 (DE-627)830169970 (DE-576)161285090 aut Sutter, Christian verfasserin (DE-588)1067529160 (DE-627)818862068 (DE-576)42671993X aut Enthalten in Journal of clinical oncology Alexandria, Va. : American Society of Clinical Oncology, 1983 40(2022), 14, Seite 1529-1541 Online-Ressource (DE-627)313116962 (DE-600)2005181-5 (DE-576)090887018 1527-7755 nnns volume:40 year:2022 number:14 pages:1529-1541 extent:14 https://doi.org/10.1200/JCO.21.02112 Verlag Resolving-System lizenzpflichtig Volltext https://ascopubs.org/doi/abs/10.1200/JCO.21.02112 Verlag lizenzpflichtig Volltext GBV_USEFLAG_U GBV_ILN_2013 ISIL_DE-16-250 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2414 GBV_ILN_2424 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 40 2022 14 1529-1541 14 2013 01 DE-16-250 4185284659 00 --%%-- --%%-- --%%-- --%%-- l01 07-09-22 2013 01 DE-16-250 00 s hd2022 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_102 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1505529654 Hamann, Ute 2013 01 DE-16-250 04 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_44 2013 01 DE-16-250 05 p (DE-627)1496707400 Sutter, Christian 2013 01 DE-16-250 05 k (DE-627)1416741429 Institut für Humangenetik 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_84 |
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Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. 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Cancer risks associated with BRCA1 and BRCA2 pathogenic variants |
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Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD |
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Cancer risks associated with BRCA1 and BRCA2 pathogenic variants |
abstract |
PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Gesehen am 07.09.2022 |
abstractGer |
PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Gesehen am 07.09.2022 |
abstract_unstemmed |
PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Gesehen am 07.09.2022 |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a2200265 4500</leader><controlfield tag="001">1815964839</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230118150211.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220907s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1200/JCO.21.02112</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)1815964839</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)KXP1815964839</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1361696693</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Li, Shuai</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Cancer risks associated with BRCA1 and BRCA2 pathogenic variants</subfield><subfield code="c">Shuai Li, MD, PhD; Valentina Silvestri, PhD; Goska Leslie, MEng; Timothy R. Rebbeck, PhD; Susan L. Neuhausen, PhD; John L. Hopper, PhD; Henriette Roed Nielsen, PhD; Andrew Lee, CASM; Xin Yang, PhD; Lesley McGuffog; Michael T. Parsons, BSc; Irene L. Andrulis, PhD; Norbert Arnold, PhD; Muriel Belotti, PhD; ̊Ake Borg, PhD; Bruno Buecher, MD; Saundra S. Buys, MD; Sandrine M. Caputo, PhD; Wendy K. Chung, MD, PhD; Chrystelle Colas, MD, PhD; Sarah V. Colonna, MD; Jackie Cook, MBBS; Mary B. Daly, MD, PhD; Miguel de la Hoya, PhD; Antoine de Pauw, PhD; Helene Delhomelle, PhD; Jacqueline Eason, MBChB, DM; Christoph Engel, MD; D. Gareth Evans, MD; Ulrike Faust, PhD; Tanja N. Fehm, MD; Florentia Fostira, PhD; George Fountzilas, MD, PhD; Megan Frone, MSc; Vanesa Garcia-Barberan, PhD; Pilar Garre, PhD; Marion Gauthier-Villars, MD; Andrea Gehrig, PhD; Gord Glendon, MSc; David E. Goldgar, PhD; Lisa Golmard, PharmD, PhD14,15 ; Mark H. Greene, MD; Eric Hahnen, PhD; Ute Hamann, PhD; Helen Hanson, MBBS, MD; Tiara Hassan, MGenCoun; Julia Hentschel, PhD; Judit Horvath, MD; Louise Izatt, PhD; Ramunas Janavicius, MD, PhD; Yue Jiao, PhD; Esther M. John, PhD; Beth Y. Karlan, MD; Sung-Won Kim, MD, PhD; Irene Konstantopoulou, PhD; Ava Kwong, MBBS, FRCS, PhD; Anthony Lauge, MSc; Jong Won Lee, PhD; Fabienne Lesueur, PhD; Noura Mebirouk, MSc; Alfons Meindl, PhD; Emmanuelle Mouret-Fourme, MD; Hannah Musgrave, MSc; Joanne Ngeow Yuen Yie, MBBS, MPH; Dieter Niederacher, PhD; Sue K. Park, MD, PhD; Inge Sokilde Pedersen, PhD; Juliane Ramser, PhD; Susan J. Ramus, PhD; Johanna Rantala, PhD; Muhammad U. Rashid, MD, PhD; Florian Reichl, MD; Julia Ritter, PhD; Andreas Rump, PhD; Marta Santamariña, PhD; Claire Saule, MD; Gunnar Schmidt, PhD; Rita K. Schmutzler, MD; Leigha Senter, MSc; Saba Shariff, MBBS; Christian F. Singer, MD, MPH; Melissa C. Southey, PhD; Dominique Stoppa-Lyonnet, MD, PhD; Christian Sutter, PhD; Yen Tan, PhD; Soo Hwang Teo, PhD; Mary Beth Terry, PhD; Mads Thomassen, PhD; Marc Tischkowitz, MD, PhD; Amanda E. Toland, PhD; Diana Torres, PhD; Ana Vega, PhD; Sebastian A. Wagner, MD; Shan Wang-Gohrke, MD, PhD; Barbara Wappenschmidt, PhD; Bernhard H.F. Weber, PhD; Drakoulis Yannoukakos, PhD; Amanda B. Spurdle, PhD; Douglas F. Easton, PhD; Georgia Chenevix-Trench, PhD; Laura Ottini, MD; and Antonis C. Antoniou, PhD</subfield></datafield><datafield tag="246" ind1="3" ind2="0"><subfield code="a">one two</subfield></datafield><datafield tag="246" ind1="3" ind2="3"><subfield code="a">Cancer risks associated with BRCA 1 and BRCA 2 pathogenic variants</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">January 25, 2022</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">14</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Gesehen am 07.09.2022</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">PURPOSE - - To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. - - METHODS - - We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. - - RESULTS - - BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. - - CONCLUSION - - In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hamann, Ute</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(DE-588)1074024230</subfield><subfield code="0">(DE-627)830169970</subfield><subfield code="0">(DE-576)161285090</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sutter, Christian</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(DE-588)1067529160</subfield><subfield code="0">(DE-627)818862068</subfield><subfield code="0">(DE-576)42671993X</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Journal of clinical oncology</subfield><subfield code="d">Alexandria, Va. : American Society of Clinical Oncology, 1983</subfield><subfield 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