Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 m...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Rebbeck, Timothy R. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s). 2016 |
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| Übergeordnetes Werk: |
Enthalten in: Breast cancer research - London : BioMed Central, 1999, 18(2016), 1 vom: 11. Nov. |
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| Übergeordnetes Werk: |
volume:18 ; year:2016 ; number:1 ; day:11 ; month:11 |
| Links: |
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| DOI / URN: |
10.1186/s13058-016-0768-3 |
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| Katalog-ID: |
SPR029957826 |
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| 041 | |a eng | ||
| 100 | 1 | |a Rebbeck, Timothy R. |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women |
| 264 | 1 | |c 2016 | |
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| 500 | |a © The Author(s). 2016 | ||
| 520 | |a Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. | ||
| 650 | 4 | |a Hereditary breast and ovarian cancer |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Transheterozygosity |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a BRCA1 |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a BRCA2 |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Friebel, Tara M. |4 aut | |
| 700 | 1 | |a Mitra, Nandita |4 aut | |
| 700 | 1 | |a Wan, Fei |4 aut | |
| 700 | 1 | |a Chen, Stephanie |4 aut | |
| 700 | 1 | |a Andrulis, Irene L. |4 aut | |
| 700 | 1 | |a Apostolou, Paraskevi |4 aut | |
| 700 | 1 | |a Arnold, Norbert |4 aut | |
| 700 | 1 | |a Arun, Banu K. |4 aut | |
| 700 | 1 | |a Barrowdale, Daniel |4 aut | |
| 700 | 1 | |a Benitez, Javier |4 aut | |
| 700 | 1 | |a Berger, Raanan |4 aut | |
| 700 | 1 | |a Berthet, Pascaline |4 aut | |
| 700 | 1 | |a Borg, Ake |4 aut | |
| 700 | 1 | |a Buys, Saundra S. |4 aut | |
| 700 | 1 | |a Caldes, Trinidad |4 aut | |
| 700 | 1 | |a Carter, Jonathan |4 aut | |
| 700 | 1 | |a Chiquette, Jocelyne |4 aut | |
| 700 | 1 | |a Claes, Kathleen B. M. |4 aut | |
| 700 | 1 | |a Couch, Fergus J. |4 aut | |
| 700 | 1 | |a Cybulski, Cezary |4 aut | |
| 700 | 1 | |a Daly, Mary B. |4 aut | |
| 700 | 1 | |a de la Hoya, Miguel |4 aut | |
| 700 | 1 | |a Diez, Orland |4 aut | |
| 700 | 1 | |a Domchek, Susan M. |4 aut | |
| 700 | 1 | |a Nathanson, Katherine L. |4 aut | |
| 700 | 1 | |a Durda, Katarzyna |4 aut | |
| 700 | 1 | |a Ellis, Steve |4 aut | |
| 700 | 1 | |a Evans, D. Gareth |4 aut | |
| 700 | 1 | |a Foretova, Lenka |4 aut | |
| 700 | 1 | |a Friedman, Eitan |4 aut | |
| 700 | 1 | |a Frost, Debra |4 aut | |
| 700 | 1 | |a Ganz, Patricia A. |4 aut | |
| 700 | 1 | |a Garber, Judy |4 aut | |
| 700 | 1 | |a Glendon, Gord |4 aut | |
| 700 | 1 | |a Godwin, Andrew K. |4 aut | |
| 700 | 1 | |a Greene, Mark H. |4 aut | |
| 700 | 1 | |a Gronwald, Jacek |4 aut | |
| 700 | 1 | |a Hahnen, Eric |4 aut | |
| 700 | 1 | |a Hallberg, Emily |4 aut | |
| 700 | 1 | |a Hamann, Ute |4 aut | |
| 700 | 1 | |a Hansen, Thomas V. O. |4 aut | |
| 700 | 1 | |a Imyanitov, Evgeny N. |4 aut | |
| 700 | 1 | |a Isaacs, Claudine |4 aut | |
| 700 | 1 | |a Jakubowska, Anna |4 aut | |
| 700 | 1 | |a Janavicius, Ramunas |4 aut | |
| 700 | 1 | |a Jaworska-Bieniek, Katarzyna |4 aut | |
| 700 | 1 | |a John, Esther M. |4 aut | |
| 700 | 1 | |a Karlan, Beth Y. |4 aut | |
| 700 | 1 | |a Kaufman, Bella |4 aut | |
| 700 | 1 | |a investigators, KConFab |4 aut | |
| 700 | 1 | |a Kwong, Ava |4 aut | |
| 700 | 1 | |a Laitman, Yael |4 aut | |
| 700 | 1 | |a Lasset, Christine |4 aut | |
| 700 | 1 | |a Lazaro, Conxi |4 aut | |
| 700 | 1 | |a Lester, Jenny |4 aut | |
| 700 | 1 | |a Loman, Niklas |4 aut | |
| 700 | 1 | |a Lubinski, Jan |4 aut | |
| 700 | 1 | |a Manoukian, Siranoush |4 aut | |
| 700 | 1 | |a Mitchell, Gillian |4 aut | |
| 700 | 1 | |a Montagna, Marco |4 aut | |
| 700 | 1 | |a Neuhausen, Susan L. |4 aut | |
| 700 | 1 | |a Nevanlinna, Heli |4 aut | |
| 700 | 1 | |a Niederacher, Dieter |4 aut | |
| 700 | 1 | |a Nussbaum, Robert L. |4 aut | |
| 700 | 1 | |a Offit, Kenneth |4 aut | |
| 700 | 1 | |a Olah, Edith |4 aut | |
| 700 | 1 | |a Olopade, Olufunmilayo I. |4 aut | |
| 700 | 1 | |a Park, Sue Kyung |4 aut | |
| 700 | 1 | |a Piedmonte, Marion |4 aut | |
| 700 | 1 | |a Radice, Paolo |4 aut | |
| 700 | 1 | |a Rappaport-Fuerhauser, Christine |4 aut | |
| 700 | 1 | |a Rookus, Matti A. |4 aut | |
| 700 | 1 | |a Seynaeve, Caroline |4 aut | |
| 700 | 1 | |a Simard, Jacques |4 aut | |
| 700 | 1 | |a Singer, Christian F. |4 aut | |
| 700 | 1 | |a Soucy, Penny |4 aut | |
| 700 | 1 | |a Southey, Melissa |4 aut | |
| 700 | 1 | |a Stoppa-Lyonnet, Dominique |4 aut | |
| 700 | 1 | |a Sukiennicki, Grzegorz |4 aut | |
| 700 | 1 | |a Szabo, Csilla I. |4 aut | |
| 700 | 1 | |a Tancredi, Mariella |4 aut | |
| 700 | 1 | |a Teixeira, Manuel R. |4 aut | |
| 700 | 1 | |a Teo, Soo-Hwang |4 aut | |
| 700 | 1 | |a Terry, Mary Beth |4 aut | |
| 700 | 1 | |a Thomassen, Mads |4 aut | |
| 700 | 1 | |a Tihomirova, Laima |4 aut | |
| 700 | 1 | |a Tischkowitz, Marc |4 aut | |
| 700 | 1 | |a Toland, Amanda Ewart |4 aut | |
| 700 | 1 | |a Toloczko-Grabarek, Aleksandra |4 aut | |
| 700 | 1 | |a Tung, Nadine |4 aut | |
| 700 | 1 | |a van Rensburg, Elizabeth J. |4 aut | |
| 700 | 1 | |a Villano, Danylo |4 aut | |
| 700 | 1 | |a Wang-Gohrke, Shan |4 aut | |
| 700 | 1 | |a Wappenschmidt, Barbara |4 aut | |
| 700 | 1 | |a Weitzel, Jeffrey N. |4 aut | |
| 700 | 1 | |a Zidan, Jamal |4 aut | |
| 700 | 1 | |a Zorn, Kristin K. |4 aut | |
| 700 | 1 | |a McGuffog, Lesley |4 aut | |
| 700 | 1 | |a Easton, Douglas |4 aut | |
| 700 | 1 | |a Chenevix-Trench, Georgia |4 aut | |
| 700 | 1 | |a Antoniou, Antonis C. |4 aut | |
| 700 | 1 | |a Ramus, Susan J. |4 aut | |
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10.1186/s13058-016-0768-3 doi (DE-627)SPR029957826 (SPR)s13058-016-0768-3-e DE-627 ger DE-627 rakwb eng Rebbeck, Timothy R. verfasserin aut Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Friebel, Tara M. aut Mitra, Nandita aut Wan, Fei aut Chen, Stephanie aut Andrulis, Irene L. aut Apostolou, Paraskevi aut Arnold, Norbert aut Arun, Banu K. aut Barrowdale, Daniel aut Benitez, Javier aut Berger, Raanan aut Berthet, Pascaline aut Borg, Ake aut Buys, Saundra S. aut Caldes, Trinidad aut Carter, Jonathan aut Chiquette, Jocelyne aut Claes, Kathleen B. M. aut Couch, Fergus J. aut Cybulski, Cezary aut Daly, Mary B. aut de la Hoya, Miguel aut Diez, Orland aut Domchek, Susan M. aut Nathanson, Katherine L. aut Durda, Katarzyna aut Ellis, Steve aut Evans, D. Gareth aut Foretova, Lenka aut Friedman, Eitan aut Frost, Debra aut Ganz, Patricia A. aut Garber, Judy aut Glendon, Gord aut Godwin, Andrew K. aut Greene, Mark H. aut Gronwald, Jacek aut Hahnen, Eric aut Hallberg, Emily aut Hamann, Ute aut Hansen, Thomas V. O. aut Imyanitov, Evgeny N. aut Isaacs, Claudine aut Jakubowska, Anna aut Janavicius, Ramunas aut Jaworska-Bieniek, Katarzyna aut John, Esther M. aut Karlan, Beth Y. aut Kaufman, Bella aut investigators, KConFab aut Kwong, Ava aut Laitman, Yael aut Lasset, Christine aut Lazaro, Conxi aut Lester, Jenny aut Loman, Niklas aut Lubinski, Jan aut Manoukian, Siranoush aut Mitchell, Gillian aut Montagna, Marco aut Neuhausen, Susan L. aut Nevanlinna, Heli aut Niederacher, Dieter aut Nussbaum, Robert L. aut Offit, Kenneth aut Olah, Edith aut Olopade, Olufunmilayo I. aut Park, Sue Kyung aut Piedmonte, Marion aut Radice, Paolo aut Rappaport-Fuerhauser, Christine aut Rookus, Matti A. aut Seynaeve, Caroline aut Simard, Jacques aut Singer, Christian F. aut Soucy, Penny aut Southey, Melissa aut Stoppa-Lyonnet, Dominique aut Sukiennicki, Grzegorz aut Szabo, Csilla I. aut Tancredi, Mariella aut Teixeira, Manuel R. aut Teo, Soo-Hwang aut Terry, Mary Beth aut Thomassen, Mads aut Tihomirova, Laima aut Tischkowitz, Marc aut Toland, Amanda Ewart aut Toloczko-Grabarek, Aleksandra aut Tung, Nadine aut van Rensburg, Elizabeth J. aut Villano, Danylo aut Wang-Gohrke, Shan aut Wappenschmidt, Barbara aut Weitzel, Jeffrey N. aut Zidan, Jamal aut Zorn, Kristin K. aut McGuffog, Lesley aut Easton, Douglas aut Chenevix-Trench, Georgia aut Antoniou, Antonis C. aut Ramus, Susan J. aut Enthalten in Breast cancer research London : BioMed Central, 1999 18(2016), 1 vom: 11. 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10.1186/s13058-016-0768-3 doi (DE-627)SPR029957826 (SPR)s13058-016-0768-3-e DE-627 ger DE-627 rakwb eng Rebbeck, Timothy R. verfasserin aut Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Friebel, Tara M. aut Mitra, Nandita aut Wan, Fei aut Chen, Stephanie aut Andrulis, Irene L. aut Apostolou, Paraskevi aut Arnold, Norbert aut Arun, Banu K. aut Barrowdale, Daniel aut Benitez, Javier aut Berger, Raanan aut Berthet, Pascaline aut Borg, Ake aut Buys, Saundra S. aut Caldes, Trinidad aut Carter, Jonathan aut Chiquette, Jocelyne aut Claes, Kathleen B. M. aut Couch, Fergus J. aut Cybulski, Cezary aut Daly, Mary B. aut de la Hoya, Miguel aut Diez, Orland aut Domchek, Susan M. aut Nathanson, Katherine L. aut Durda, Katarzyna aut Ellis, Steve aut Evans, D. Gareth aut Foretova, Lenka aut Friedman, Eitan aut Frost, Debra aut Ganz, Patricia A. aut Garber, Judy aut Glendon, Gord aut Godwin, Andrew K. aut Greene, Mark H. aut Gronwald, Jacek aut Hahnen, Eric aut Hallberg, Emily aut Hamann, Ute aut Hansen, Thomas V. O. aut Imyanitov, Evgeny N. aut Isaacs, Claudine aut Jakubowska, Anna aut Janavicius, Ramunas aut Jaworska-Bieniek, Katarzyna aut John, Esther M. aut Karlan, Beth Y. aut Kaufman, Bella aut investigators, KConFab aut Kwong, Ava aut Laitman, Yael aut Lasset, Christine aut Lazaro, Conxi aut Lester, Jenny aut Loman, Niklas aut Lubinski, Jan aut Manoukian, Siranoush aut Mitchell, Gillian aut Montagna, Marco aut Neuhausen, Susan L. aut Nevanlinna, Heli aut Niederacher, Dieter aut Nussbaum, Robert L. aut Offit, Kenneth aut Olah, Edith aut Olopade, Olufunmilayo I. aut Park, Sue Kyung aut Piedmonte, Marion aut Radice, Paolo aut Rappaport-Fuerhauser, Christine aut Rookus, Matti A. aut Seynaeve, Caroline aut Simard, Jacques aut Singer, Christian F. aut Soucy, Penny aut Southey, Melissa aut Stoppa-Lyonnet, Dominique aut Sukiennicki, Grzegorz aut Szabo, Csilla I. aut Tancredi, Mariella aut Teixeira, Manuel R. aut Teo, Soo-Hwang aut Terry, Mary Beth aut Thomassen, Mads aut Tihomirova, Laima aut Tischkowitz, Marc aut Toland, Amanda Ewart aut Toloczko-Grabarek, Aleksandra aut Tung, Nadine aut van Rensburg, Elizabeth J. aut Villano, Danylo aut Wang-Gohrke, Shan aut Wappenschmidt, Barbara aut Weitzel, Jeffrey N. aut Zidan, Jamal aut Zorn, Kristin K. aut McGuffog, Lesley aut Easton, Douglas aut Chenevix-Trench, Georgia aut Antoniou, Antonis C. aut Ramus, Susan J. aut Enthalten in Breast cancer research London : BioMed Central, 1999 18(2016), 1 vom: 11. Nov. (DE-627)326645950 (DE-600)2041618-0 1465-542X nnns volume:18 year:2016 number:1 day:11 month:11 https://dx.doi.org/10.1186/s13058-016-0768-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 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_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2014 GBV_ILN_2106 GBV_ILN_2232 GBV_ILN_4012 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 18 2016 1 11 11 |
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10.1186/s13058-016-0768-3 doi (DE-627)SPR029957826 (SPR)s13058-016-0768-3-e DE-627 ger DE-627 rakwb eng Rebbeck, Timothy R. verfasserin aut Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Friebel, Tara M. aut Mitra, Nandita aut Wan, Fei aut Chen, Stephanie aut Andrulis, Irene L. aut Apostolou, Paraskevi aut Arnold, Norbert aut Arun, Banu K. aut Barrowdale, Daniel aut Benitez, Javier aut Berger, Raanan aut Berthet, Pascaline aut Borg, Ake aut Buys, Saundra S. aut Caldes, Trinidad aut Carter, Jonathan aut Chiquette, Jocelyne aut Claes, Kathleen B. M. aut Couch, Fergus J. aut Cybulski, Cezary aut Daly, Mary B. aut de la Hoya, Miguel aut Diez, Orland aut Domchek, Susan M. aut Nathanson, Katherine L. aut Durda, Katarzyna aut Ellis, Steve aut Evans, D. Gareth aut Foretova, Lenka aut Friedman, Eitan aut Frost, Debra aut Ganz, Patricia A. aut Garber, Judy aut Glendon, Gord aut Godwin, Andrew K. aut Greene, Mark H. aut Gronwald, Jacek aut Hahnen, Eric aut Hallberg, Emily aut Hamann, Ute aut Hansen, Thomas V. O. aut Imyanitov, Evgeny N. aut Isaacs, Claudine aut Jakubowska, Anna aut Janavicius, Ramunas aut Jaworska-Bieniek, Katarzyna aut John, Esther M. aut Karlan, Beth Y. aut Kaufman, Bella aut investigators, KConFab aut Kwong, Ava aut Laitman, Yael aut Lasset, Christine aut Lazaro, Conxi aut Lester, Jenny aut Loman, Niklas aut Lubinski, Jan aut Manoukian, Siranoush aut Mitchell, Gillian aut Montagna, Marco aut Neuhausen, Susan L. aut Nevanlinna, Heli aut Niederacher, Dieter aut Nussbaum, Robert L. aut Offit, Kenneth aut Olah, Edith aut Olopade, Olufunmilayo I. aut Park, Sue Kyung aut Piedmonte, Marion aut Radice, Paolo aut Rappaport-Fuerhauser, Christine aut Rookus, Matti A. aut Seynaeve, Caroline aut Simard, Jacques aut Singer, Christian F. aut Soucy, Penny aut Southey, Melissa aut Stoppa-Lyonnet, Dominique aut Sukiennicki, Grzegorz aut Szabo, Csilla I. aut Tancredi, Mariella aut Teixeira, Manuel R. aut Teo, Soo-Hwang aut Terry, Mary Beth aut Thomassen, Mads aut Tihomirova, Laima aut Tischkowitz, Marc aut Toland, Amanda Ewart aut Toloczko-Grabarek, Aleksandra aut Tung, Nadine aut van Rensburg, Elizabeth J. aut Villano, Danylo aut Wang-Gohrke, Shan aut Wappenschmidt, Barbara aut Weitzel, Jeffrey N. aut Zidan, Jamal aut Zorn, Kristin K. aut McGuffog, Lesley aut Easton, Douglas aut Chenevix-Trench, Georgia aut Antoniou, Antonis C. aut Ramus, Susan J. aut Enthalten in Breast cancer research London : BioMed Central, 1999 18(2016), 1 vom: 11. Nov. (DE-627)326645950 (DE-600)2041618-0 1465-542X nnns volume:18 year:2016 number:1 day:11 month:11 https://dx.doi.org/10.1186/s13058-016-0768-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 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_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2014 GBV_ILN_2106 GBV_ILN_2232 GBV_ILN_4012 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 18 2016 1 11 11 |
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10.1186/s13058-016-0768-3 doi (DE-627)SPR029957826 (SPR)s13058-016-0768-3-e DE-627 ger DE-627 rakwb eng Rebbeck, Timothy R. verfasserin aut Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Friebel, Tara M. aut Mitra, Nandita aut Wan, Fei aut Chen, Stephanie aut Andrulis, Irene L. aut Apostolou, Paraskevi aut Arnold, Norbert aut Arun, Banu K. aut Barrowdale, Daniel aut Benitez, Javier aut Berger, Raanan aut Berthet, Pascaline aut Borg, Ake aut Buys, Saundra S. aut Caldes, Trinidad aut Carter, Jonathan aut Chiquette, Jocelyne aut Claes, Kathleen B. M. aut Couch, Fergus J. aut Cybulski, Cezary aut Daly, Mary B. aut de la Hoya, Miguel aut Diez, Orland aut Domchek, Susan M. aut Nathanson, Katherine L. aut Durda, Katarzyna aut Ellis, Steve aut Evans, D. Gareth aut Foretova, Lenka aut Friedman, Eitan aut Frost, Debra aut Ganz, Patricia A. aut Garber, Judy aut Glendon, Gord aut Godwin, Andrew K. aut Greene, Mark H. aut Gronwald, Jacek aut Hahnen, Eric aut Hallberg, Emily aut Hamann, Ute aut Hansen, Thomas V. O. aut Imyanitov, Evgeny N. aut Isaacs, Claudine aut Jakubowska, Anna aut Janavicius, Ramunas aut Jaworska-Bieniek, Katarzyna aut John, Esther M. aut Karlan, Beth Y. aut Kaufman, Bella aut investigators, KConFab aut Kwong, Ava aut Laitman, Yael aut Lasset, Christine aut Lazaro, Conxi aut Lester, Jenny aut Loman, Niklas aut Lubinski, Jan aut Manoukian, Siranoush aut Mitchell, Gillian aut Montagna, Marco aut Neuhausen, Susan L. aut Nevanlinna, Heli aut Niederacher, Dieter aut Nussbaum, Robert L. aut Offit, Kenneth aut Olah, Edith aut Olopade, Olufunmilayo I. aut Park, Sue Kyung aut Piedmonte, Marion aut Radice, Paolo aut Rappaport-Fuerhauser, Christine aut Rookus, Matti A. aut Seynaeve, Caroline aut Simard, Jacques aut Singer, Christian F. aut Soucy, Penny aut Southey, Melissa aut Stoppa-Lyonnet, Dominique aut Sukiennicki, Grzegorz aut Szabo, Csilla I. aut Tancredi, Mariella aut Teixeira, Manuel R. aut Teo, Soo-Hwang aut Terry, Mary Beth aut Thomassen, Mads aut Tihomirova, Laima aut Tischkowitz, Marc aut Toland, Amanda Ewart aut Toloczko-Grabarek, Aleksandra aut Tung, Nadine aut van Rensburg, Elizabeth J. aut Villano, Danylo aut Wang-Gohrke, Shan aut Wappenschmidt, Barbara aut Weitzel, Jeffrey N. aut Zidan, Jamal aut Zorn, Kristin K. aut McGuffog, Lesley aut Easton, Douglas aut Chenevix-Trench, Georgia aut Antoniou, Antonis C. aut Ramus, Susan J. aut Enthalten in Breast cancer research London : BioMed Central, 1999 18(2016), 1 vom: 11. Nov. (DE-627)326645950 (DE-600)2041618-0 1465-542X nnns volume:18 year:2016 number:1 day:11 month:11 https://dx.doi.org/10.1186/s13058-016-0768-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 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_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2014 GBV_ILN_2106 GBV_ILN_2232 GBV_ILN_4012 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 18 2016 1 11 11 |
| allfieldsSound |
10.1186/s13058-016-0768-3 doi (DE-627)SPR029957826 (SPR)s13058-016-0768-3-e DE-627 ger DE-627 rakwb eng Rebbeck, Timothy R. verfasserin aut Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Friebel, Tara M. aut Mitra, Nandita aut Wan, Fei aut Chen, Stephanie aut Andrulis, Irene L. aut Apostolou, Paraskevi aut Arnold, Norbert aut Arun, Banu K. aut Barrowdale, Daniel aut Benitez, Javier aut Berger, Raanan aut Berthet, Pascaline aut Borg, Ake aut Buys, Saundra S. aut Caldes, Trinidad aut Carter, Jonathan aut Chiquette, Jocelyne aut Claes, Kathleen B. M. aut Couch, Fergus J. aut Cybulski, Cezary aut Daly, Mary B. aut de la Hoya, Miguel aut Diez, Orland aut Domchek, Susan M. aut Nathanson, Katherine L. aut Durda, Katarzyna aut Ellis, Steve aut Evans, D. Gareth aut Foretova, Lenka aut Friedman, Eitan aut Frost, Debra aut Ganz, Patricia A. aut Garber, Judy aut Glendon, Gord aut Godwin, Andrew K. aut Greene, Mark H. aut Gronwald, Jacek aut Hahnen, Eric aut Hallberg, Emily aut Hamann, Ute aut Hansen, Thomas V. O. aut Imyanitov, Evgeny N. aut Isaacs, Claudine aut Jakubowska, Anna aut Janavicius, Ramunas aut Jaworska-Bieniek, Katarzyna aut John, Esther M. aut Karlan, Beth Y. aut Kaufman, Bella aut investigators, KConFab aut Kwong, Ava aut Laitman, Yael aut Lasset, Christine aut Lazaro, Conxi aut Lester, Jenny aut Loman, Niklas aut Lubinski, Jan aut Manoukian, Siranoush aut Mitchell, Gillian aut Montagna, Marco aut Neuhausen, Susan L. aut Nevanlinna, Heli aut Niederacher, Dieter aut Nussbaum, Robert L. aut Offit, Kenneth aut Olah, Edith aut Olopade, Olufunmilayo I. aut Park, Sue Kyung aut Piedmonte, Marion aut Radice, Paolo aut Rappaport-Fuerhauser, Christine aut Rookus, Matti A. aut Seynaeve, Caroline aut Simard, Jacques aut Singer, Christian F. aut Soucy, Penny aut Southey, Melissa aut Stoppa-Lyonnet, Dominique aut Sukiennicki, Grzegorz aut Szabo, Csilla I. aut Tancredi, Mariella aut Teixeira, Manuel R. aut Teo, Soo-Hwang aut Terry, Mary Beth aut Thomassen, Mads aut Tihomirova, Laima aut Tischkowitz, Marc aut Toland, Amanda Ewart aut Toloczko-Grabarek, Aleksandra aut Tung, Nadine aut van Rensburg, Elizabeth J. aut Villano, Danylo aut Wang-Gohrke, Shan aut Wappenschmidt, Barbara aut Weitzel, Jeffrey N. aut Zidan, Jamal aut Zorn, Kristin K. aut McGuffog, Lesley aut Easton, Douglas aut Chenevix-Trench, Georgia aut Antoniou, Antonis C. aut Ramus, Susan J. aut Enthalten in Breast cancer research London : BioMed Central, 1999 18(2016), 1 vom: 11. Nov. (DE-627)326645950 (DE-600)2041618-0 1465-542X nnns volume:18 year:2016 number:1 day:11 month:11 https://dx.doi.org/10.1186/s13058-016-0768-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 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_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2014 GBV_ILN_2106 GBV_ILN_2232 GBV_ILN_4012 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 18 2016 1 11 11 |
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Rebbeck, Timothy R. @@aut@@ Friebel, Tara M. @@aut@@ Mitra, Nandita @@aut@@ Wan, Fei @@aut@@ Chen, Stephanie @@aut@@ Andrulis, Irene L. @@aut@@ Apostolou, Paraskevi @@aut@@ Arnold, Norbert @@aut@@ Arun, Banu K. @@aut@@ Barrowdale, Daniel @@aut@@ Benitez, Javier @@aut@@ Berger, Raanan @@aut@@ Berthet, Pascaline @@aut@@ Borg, Ake @@aut@@ Buys, Saundra S. @@aut@@ Caldes, Trinidad @@aut@@ Carter, Jonathan @@aut@@ Chiquette, Jocelyne @@aut@@ Claes, Kathleen B. M. @@aut@@ Couch, Fergus J. @@aut@@ Cybulski, Cezary @@aut@@ Daly, Mary B. @@aut@@ de la Hoya, Miguel @@aut@@ Diez, Orland @@aut@@ Domchek, Susan M. @@aut@@ Nathanson, Katherine L. @@aut@@ Durda, Katarzyna @@aut@@ Ellis, Steve @@aut@@ Evans, D. Gareth @@aut@@ Foretova, Lenka @@aut@@ Friedman, Eitan @@aut@@ Frost, Debra @@aut@@ Ganz, Patricia A. @@aut@@ Garber, Judy @@aut@@ Glendon, Gord @@aut@@ Godwin, Andrew K. @@aut@@ Greene, Mark H. @@aut@@ Gronwald, Jacek @@aut@@ Hahnen, Eric @@aut@@ Hallberg, Emily @@aut@@ Hamann, Ute @@aut@@ Hansen, Thomas V. O. @@aut@@ Imyanitov, Evgeny N. @@aut@@ Isaacs, Claudine @@aut@@ Jakubowska, Anna @@aut@@ Janavicius, Ramunas @@aut@@ Jaworska-Bieniek, Katarzyna @@aut@@ John, Esther M. @@aut@@ Karlan, Beth Y. @@aut@@ Kaufman, Bella @@aut@@ investigators, KConFab @@aut@@ Kwong, Ava @@aut@@ Laitman, Yael @@aut@@ Lasset, Christine @@aut@@ Lazaro, Conxi @@aut@@ Lester, Jenny @@aut@@ Loman, Niklas @@aut@@ Lubinski, Jan @@aut@@ Manoukian, Siranoush @@aut@@ Mitchell, Gillian @@aut@@ Montagna, Marco @@aut@@ Neuhausen, Susan L. @@aut@@ Nevanlinna, Heli @@aut@@ Niederacher, Dieter @@aut@@ Nussbaum, Robert L. @@aut@@ Offit, Kenneth @@aut@@ Olah, Edith @@aut@@ Olopade, Olufunmilayo I. @@aut@@ Park, Sue Kyung @@aut@@ Piedmonte, Marion @@aut@@ Radice, Paolo @@aut@@ Rappaport-Fuerhauser, Christine @@aut@@ Rookus, Matti A. @@aut@@ Seynaeve, Caroline @@aut@@ Simard, Jacques @@aut@@ Singer, Christian F. @@aut@@ Soucy, Penny @@aut@@ Southey, Melissa @@aut@@ Stoppa-Lyonnet, Dominique @@aut@@ Sukiennicki, Grzegorz @@aut@@ Szabo, Csilla I. @@aut@@ Tancredi, Mariella @@aut@@ Teixeira, Manuel R. @@aut@@ Teo, Soo-Hwang @@aut@@ Terry, Mary Beth @@aut@@ Thomassen, Mads @@aut@@ Tihomirova, Laima @@aut@@ Tischkowitz, Marc @@aut@@ Toland, Amanda Ewart @@aut@@ Toloczko-Grabarek, Aleksandra @@aut@@ Tung, Nadine @@aut@@ van Rensburg, Elizabeth J. @@aut@@ Villano, Danylo @@aut@@ Wang-Gohrke, Shan @@aut@@ Wappenschmidt, Barbara @@aut@@ Weitzel, Jeffrey N. @@aut@@ Zidan, Jamal @@aut@@ Zorn, Kristin K. @@aut@@ McGuffog, Lesley @@aut@@ Easton, Douglas @@aut@@ Chenevix-Trench, Georgia @@aut@@ Antoniou, Antonis C. @@aut@@ Ramus, Susan J. @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR029957826</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519182850.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2016 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s13058-016-0768-3</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR029957826</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s13058-016-0768-3-e</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">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Rebbeck, Timothy R.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</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">© The Author(s). 2016</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. 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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women Hereditary breast and ovarian cancer (dpeaa)DE-He213 Transheterozygosity (dpeaa)DE-He213 BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 |
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Rebbeck, Timothy R. Friebel, Tara M. Mitra, Nandita Wan, Fei Chen, Stephanie Andrulis, Irene L. Apostolou, Paraskevi Arnold, Norbert Arun, Banu K. Barrowdale, Daniel Benitez, Javier Berger, Raanan Berthet, Pascaline Borg, Ake Buys, Saundra S. Caldes, Trinidad Carter, Jonathan Chiquette, Jocelyne Claes, Kathleen B. M. Couch, Fergus J. Cybulski, Cezary Daly, Mary B. de la Hoya, Miguel Diez, Orland Domchek, Susan M. Nathanson, Katherine L. Durda, Katarzyna Ellis, Steve Evans, D. Gareth Foretova, Lenka Friedman, Eitan Frost, Debra Ganz, Patricia A. Garber, Judy Glendon, Gord Godwin, Andrew K. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Hallberg, Emily Hamann, Ute Hansen, Thomas V. O. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna Janavicius, Ramunas Jaworska-Bieniek, Katarzyna John, Esther M. Karlan, Beth Y. Kaufman, Bella investigators, KConFab Kwong, Ava Laitman, Yael Lasset, Christine Lazaro, Conxi Lester, Jenny Loman, Niklas Lubinski, Jan Manoukian, Siranoush Mitchell, Gillian Montagna, Marco Neuhausen, Susan L. Nevanlinna, Heli Niederacher, Dieter Nussbaum, Robert L. Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I. Park, Sue Kyung Piedmonte, Marion Radice, Paolo Rappaport-Fuerhauser, Christine Rookus, Matti A. Seynaeve, Caroline Simard, Jacques Singer, Christian F. Soucy, Penny Southey, Melissa Stoppa-Lyonnet, Dominique Sukiennicki, Grzegorz Szabo, Csilla I. Tancredi, Mariella Teixeira, Manuel R. Teo, Soo-Hwang Terry, Mary Beth Thomassen, Mads Tihomirova, Laima Tischkowitz, Marc Toland, Amanda Ewart Toloczko-Grabarek, Aleksandra Tung, Nadine van Rensburg, Elizabeth J. Villano, Danylo Wang-Gohrke, Shan Wappenschmidt, Barbara Weitzel, Jeffrey N. Zidan, Jamal Zorn, Kristin K. McGuffog, Lesley Easton, Douglas Chenevix-Trench, Georgia Antoniou, Antonis C. Ramus, Susan J. |
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inheritance of deleterious mutations at both brca1 and brca2 in an international sample of 32,295 women |
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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women |
| abstract |
Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. © The Author(s). 2016 |
| abstractGer |
Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. © The Author(s). 2016 |
| abstract_unstemmed |
Background Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. Methods From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). “Cases” were defined as TH, and “controls” were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 “controls” carried a BRCA1 mutation found in the TH “case”. Matched SH2 “controls” carried a BRCA2 mutation found in the TH “case”. After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. Results The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2. © The Author(s). 2016 |
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Friebel, Tara M. Mitra, Nandita Wan, Fei Chen, Stephanie Andrulis, Irene L. Apostolou, Paraskevi Arnold, Norbert Arun, Banu K. Barrowdale, Daniel Benitez, Javier Berger, Raanan Berthet, Pascaline Borg, Ake Buys, Saundra S. Caldes, Trinidad Carter, Jonathan Chiquette, Jocelyne Claes, Kathleen B. M. Couch, Fergus J. Cybulski, Cezary Daly, Mary B. de la Hoya, Miguel Diez, Orland Domchek, Susan M. Nathanson, Katherine L. Durda, Katarzyna Ellis, Steve Evans, D. Gareth Foretova, Lenka Friedman, Eitan Frost, Debra Ganz, Patricia A. Garber, Judy Glendon, Gord Godwin, Andrew K. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Hallberg, Emily Hamann, Ute Hansen, Thomas V. O. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna Janavicius, Ramunas Jaworska-Bieniek, Katarzyna John, Esther M. Karlan, Beth Y. Kaufman, Bella investigators, KConFab Kwong, Ava Laitman, Yael Lasset, Christine Lazaro, Conxi Lester, Jenny Loman, Niklas Lubinski, Jan Manoukian, Siranoush Mitchell, Gillian Montagna, Marco Neuhausen, Susan L. Nevanlinna, Heli Niederacher, Dieter Nussbaum, Robert L. Offit, Kenneth Olah, Edith Olopade, Olufunmilayo I. Park, Sue Kyung Piedmonte, Marion Radice, Paolo Rappaport-Fuerhauser, Christine Rookus, Matti A. Seynaeve, Caroline Simard, Jacques Singer, Christian F. Soucy, Penny Southey, Melissa Stoppa-Lyonnet, Dominique Sukiennicki, Grzegorz Szabo, Csilla I. Tancredi, Mariella Teixeira, Manuel R. Teo, Soo-Hwang Terry, Mary Beth Thomassen, Mads Tihomirova, Laima Tischkowitz, Marc Toland, Amanda Ewart Toloczko-Grabarek, Aleksandra Tung, Nadine van Rensburg, Elizabeth J. Villano, Danylo Wang-Gohrke, Shan Wappenschmidt, Barbara Weitzel, Jeffrey N. Zidan, Jamal Zorn, Kristin K. McGuffog, Lesley Easton, Douglas Chenevix-Trench, Georgia Antoniou, Antonis C. Ramus, Susan J. |
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Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. Conclusions Our observations suggest that clinical TH phenotypes resemble SH1. 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