Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications

被引:0
作者
Ido Laish
Eitan Friedman
Gili Levi-Reznick
Inbal Kedar
Lior Katz
Zohar Levi
Naama Halpern
Shani Parnasa
Aasem Abu-Shatya
Elizabeth Half
Yael Goldberg
机构
[1] Chaim Sheba Medical Center,Gastroenterology Institute
[2] Chaim Sheba Medical Center,Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics
[3] Rambam Health Care Campus,Genetic Institute
[4] Rabin Medical Center – Beilinson Hospital,Recanati Genetic Institute
[5] Hadassah Medical Center,Department of Gastroenterology and Hepatology
[6] Rabin Medical Center – Beilinson Hospital,Gastroenterology Institute
[7] Chaim Sheba Medical Center,Department of Oncology
[8] The Hebrew University of Jerusalem,Faculty of Medicine
[9] Carmel Medical Center,Department of Internal Medicine
[10] Rambam Health Care Campus,Gastroenterology Institute
[11] Tel Aviv University,Sackler School of Medicine
来源
Breast Cancer Research and Treatment | 2021年 / 188卷
关键词
Lynch syndrome; Hereditary breast and ovarian cancer syndrome; Pathogenic sequence variants; Founder mutations; Ashkenazi Jews;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:685 / 694
页数:9
相关论文
共 271 条
[1]  
Kuchenbaecker KB(2017)Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers JAMA 317 2402-2416
[2]  
Hopper JL(2020)NCCN guidelines insights: genetic/familial high-risk assessment: breast, ovarian and pancreatic, version 1.2020 J Natl Compr Cancer Netw 18 380-391
[3]  
Barnes DR(1999)The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews Am J Hum Genet 64 963-970
[4]  
Daly MB(2001)The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations Cancer Epidemiol Biomark Prev 10 467-473
[5]  
Pilarski R(2000)BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer Am J Hum Genet 66 1259-1272
[6]  
Yurgelun MB(1999)Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer J Natl Cancer Inst 91 1241-1247
[7]  
Hartge P(2011)Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population Ann Oncol 22 964-966
[8]  
Struewing JP(2003)Hereditary colorectal cancer N Engl J Med 348 919-932
[9]  
Wacholder S(2001)The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas Am J Hum Gene 69 780-790
[10]  
Brody LC(2011)Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome JAMA 305 2304-2310