Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algor...
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Autor*in:	Kim, Do-Hoon [verfasserIn] Chae, Hyojin Jo, Irene Yoo, Jaeeun Lee, Hyeyoung Jang, Woori Park, Joonhong Lee, Gun Dong Jeon, Dong-Seok Lee, Keun Ho Hur, Soo Young Chae, Byung Joo Song, Byung Joo Kim, Myungshin Kim, Yonggoo

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	BRCA1 BRCA2 Breast cancer Ovarian cancer Genetic testing Korea

Anmerkung:	© The Author(s). 2017

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 18(2017), 1 vom: 28. März
Übergeordnetes Werk:	volume:18 ; year:2017 ; number:1 ; day:28 ; month:03

Links:	Volltext

DOI / URN:	10.1186/s12881-017-0398-3

Katalog-ID:	SPR027496864

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520			\|a Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients.
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allfields	10.1186/s12881-017-0398-3 doi (DE-627)SPR027496864 (SPR)s12881-017-0398-3-e DE-627 ger DE-627 rakwb eng Kim, Do-Hoon verfasserin aut Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213 Chae, Hyojin aut Jo, Irene aut Yoo, Jaeeun aut Lee, Hyeyoung aut Jang, Woori aut Park, Joonhong aut Lee, Gun Dong aut Jeon, Dong-Seok aut Lee, Keun Ho aut Hur, Soo Young aut Chae, Byung Joo aut Song, Byung Joo aut Kim, Myungshin aut Kim, Yonggoo aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 28. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:28 month:03 https://dx.doi.org/10.1186/s12881-017-0398-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 2017 1 28 03
spelling	10.1186/s12881-017-0398-3 doi (DE-627)SPR027496864 (SPR)s12881-017-0398-3-e DE-627 ger DE-627 rakwb eng Kim, Do-Hoon verfasserin aut Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213 Chae, Hyojin aut Jo, Irene aut Yoo, Jaeeun aut Lee, Hyeyoung aut Jang, Woori aut Park, Joonhong aut Lee, Gun Dong aut Jeon, Dong-Seok aut Lee, Keun Ho aut Hur, Soo Young aut Chae, Byung Joo aut Song, Byung Joo aut Kim, Myungshin aut Kim, Yonggoo aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 28. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:28 month:03 https://dx.doi.org/10.1186/s12881-017-0398-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 2017 1 28 03
allfields_unstemmed	10.1186/s12881-017-0398-3 doi (DE-627)SPR027496864 (SPR)s12881-017-0398-3-e DE-627 ger DE-627 rakwb eng Kim, Do-Hoon verfasserin aut Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213 Chae, Hyojin aut Jo, Irene aut Yoo, Jaeeun aut Lee, Hyeyoung aut Jang, Woori aut Park, Joonhong aut Lee, Gun Dong aut Jeon, Dong-Seok aut Lee, Keun Ho aut Hur, Soo Young aut Chae, Byung Joo aut Song, Byung Joo aut Kim, Myungshin aut Kim, Yonggoo aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 28. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:28 month:03 https://dx.doi.org/10.1186/s12881-017-0398-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 2017 1 28 03
allfieldsGer	10.1186/s12881-017-0398-3 doi (DE-627)SPR027496864 (SPR)s12881-017-0398-3-e DE-627 ger DE-627 rakwb eng Kim, Do-Hoon verfasserin aut Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213 Chae, Hyojin aut Jo, Irene aut Yoo, Jaeeun aut Lee, Hyeyoung aut Jang, Woori aut Park, Joonhong aut Lee, Gun Dong aut Jeon, Dong-Seok aut Lee, Keun Ho aut Hur, Soo Young aut Chae, Byung Joo aut Song, Byung Joo aut Kim, Myungshin aut Kim, Yonggoo aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 28. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:28 month:03 https://dx.doi.org/10.1186/s12881-017-0398-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 2017 1 28 03
allfieldsSound	10.1186/s12881-017-0398-3 doi (DE-627)SPR027496864 (SPR)s12881-017-0398-3-e DE-627 ger DE-627 rakwb eng Kim, Do-Hoon verfasserin aut Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2017 Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213 Chae, Hyojin aut Jo, Irene aut Yoo, Jaeeun aut Lee, Hyeyoung aut Jang, Woori aut Park, Joonhong aut Lee, Gun Dong aut Jeon, Dong-Seok aut Lee, Keun Ho aut Hur, Soo Young aut Chae, Byung Joo aut Song, Byung Joo aut Kim, Myungshin aut Kim, Yonggoo aut Enthalten in BMC medical genetics London : BioMed Central, 2000 18(2017), 1 vom: 28. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:18 year:2017 number:1 day:28 month:03 https://dx.doi.org/10.1186/s12881-017-0398-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 2017 1 28 03
language	English
source	Enthalten in BMC medical genetics 18(2017), 1 vom: 28. März volume:18 year:2017 number:1 day:28 month:03
sourceStr	Enthalten in BMC medical genetics 18(2017), 1 vom: 28. März volume:18 year:2017 number:1 day:28 month:03
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	BRCA1 BRCA2 Breast cancer Ovarian cancer Genetic testing Korea
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Kim, Do-Hoon @@aut@@ Chae, Hyojin @@aut@@ Jo, Irene @@aut@@ Yoo, Jaeeun @@aut@@ Lee, Hyeyoung @@aut@@ Jang, Woori @@aut@@ Park, Joonhong @@aut@@ Lee, Gun Dong @@aut@@ Jeon, Dong-Seok @@aut@@ Lee, Keun Ho @@aut@@ Hur, Soo Young @@aut@@ Chae, Byung Joo @@aut@@ Song, Byung Joo @@aut@@ Kim, Myungshin @@aut@@ Kim, Yonggoo @@aut@@
publishDateDaySort_date	2017-03-28T00:00:00Z
hierarchy_top_id	326643788
id	SPR027496864
language_de	englisch
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However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. 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author	Kim, Do-Hoon
spellingShingle	Kim, Do-Hoon misc BRCA1 misc BRCA2 misc Breast cancer misc Ovarian cancer misc Genetic testing misc Korea Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
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topic_title	Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea BRCA1 (dpeaa)DE-He213 BRCA2 (dpeaa)DE-He213 Breast cancer (dpeaa)DE-He213 Ovarian cancer (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Korea (dpeaa)DE-He213
topic	misc BRCA1 misc BRCA2 misc Breast cancer misc Ovarian cancer misc Genetic testing misc Korea
topic_unstemmed	misc BRCA1 misc BRCA2 misc Breast cancer misc Ovarian cancer misc Genetic testing misc Korea
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title	Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
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title_full	Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
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author_browse	Kim, Do-Hoon Chae, Hyojin Jo, Irene Yoo, Jaeeun Lee, Hyeyoung Jang, Woori Park, Joonhong Lee, Gun Dong Jeon, Dong-Seok Lee, Keun Ho Hur, Soo Young Chae, Byung Joo Song, Byung Joo Kim, Myungshin Kim, Yonggoo
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author-letter	Kim, Do-Hoon
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title_sort	identification of large genomic rearrangement of brca1/2 in high risk patients in korea
title_auth	Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
abstract	Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. © The Author(s). 2017
abstractGer	Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. © The Author(s). 2017
abstract_unstemmed	Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic testing algorithm is necessary. Methods We performed multiplex ligation-dependent probe amplification assay for small-scale mutation negative patients at high-risk for LGR, based on previously published LGR risk criteria. The inclusion criteria for the high-risk subgroup were personal history of 1) early-onset breast cancer (diagnosed at ≤36 years); 2) two breast primaries; 3) breast cancer diagnosed at any age, with ≥1 close blood relatives (includes first-, second-, or third-degree) with breast and/or epithelial ovarian cancer; 4) both breast and epithelial ovarian cancer diagnosed at any age; and 5) epithelial ovarian cancer with ≥1 close blood relatives with breast and/or epithelial ovarian cancer. Results Two LGRs were identified. One was a heterozygous deletion of exon 19 and the other was a heterozygous duplication of exon 4–6. The prevalence of LGRs was 7% among Sanger-negative, high-risk patients, and accounted for 13% of all BRCA1 mutations and 2% of all patients. Moreover, LGRs reported in Korean patients, including our 2 newly identified cases, were found exclusively in families with at least one high-risk feature. Conclusions Our result suggests that selective LGR screening for Sanger-negative, high-risk patients is necessary for Korean patients. © The Author(s). 2017
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title_short	Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea
url	https://dx.doi.org/10.1186/s12881-017-0398-3
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author2	Chae, Hyojin Jo, Irene Yoo, Jaeeun Lee, Hyeyoung Jang, Woori Park, Joonhong Lee, Gun Dong Jeon, Dong-Seok Lee, Keun Ho Hur, Soo Young Chae, Byung Joo Song, Byung Joo Kim, Myungshin Kim, Yonggoo
author2Str	Chae, Hyojin Jo, Irene Yoo, Jaeeun Lee, Hyeyoung Jang, Woori Park, Joonhong Lee, Gun Dong Jeon, Dong-Seok Lee, Keun Ho Hur, Soo Young Chae, Byung Joo Song, Byung Joo Kim, Myungshin Kim, Yonggoo
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Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

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