Allison W Kurian1. 1. Department of Medicine and Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305-5405, USA. akurian@stanford.edu
Abstract
PURPOSE OF REVIEW: To summarize evidence on the prevalence and spectrum of BRCA1 and BRCA2 BRCA1/2 mutations across racial and ethnic groups and discuss implications for clinical practice. RECENT FINDINGS: The prevalence of BRCA1/2 mutations is comparable among breast cancer patients of African, Asian, white, and Hispanic descent: approximately 1-4% per gene. Among ovarian cancer patients in North America, BRCA1/2 mutations are present in 13-15%. Between racial/ethnic groups, there are important differences in the spectrum of BRCA1 compared with BRCA2 mutations, in BRCA1/2 variants of uncertain significance, and in the accuracy of clinical models that predict BRCA1/2 mutation carriage. SUMMARY: Given the significant prevalence of BRCA1/2 mutations across race/ethnicity, there is a need to expand and customize genetic counseling, genetic testing, and follow-up care for members of all racial/ethnic groups.
PURPOSE OF REVIEW: To summarize evidence on the prevalence and spectrum of BRCA1 and BRCA2BRCA1/2 mutations across racial and ethnic groups and discuss implications for clinical practice. RECENT FINDINGS: The prevalence of BRCA1/2 mutations is comparable among breast cancerpatients of African, Asian, white, and Hispanic descent: approximately 1-4% per gene. Among ovarian cancerpatients in North America, BRCA1/2 mutations are present in 13-15%. Between racial/ethnic groups, there are important differences in the spectrum of BRCA1 compared with BRCA2 mutations, in BRCA1/2 variants of uncertain significance, and in the accuracy of clinical models that predict BRCA1/2 mutation carriage. SUMMARY: Given the significant prevalence of BRCA1/2 mutations across race/ethnicity, there is a need to expand and customize genetic counseling, genetic testing, and follow-up care for members of all racial/ethnic groups.
Authors: Christina A Clarke; Theresa H M Keegan; Juan Yang; David J Press; Allison W Kurian; Anish H Patel; James V Lacey Journal: J Natl Cancer Inst Date: 2012-07-05 Impact factor: 13.506
Authors: Babatunde Adedokun; Yonglan Zheng; Paul Ndom; Antony Gakwaya; Timothy Makumbi; Alicia Y Zhou; Toshio F Yoshimatsu; Alex Rodriguez; Ravi K Madduri; Ian T Foster; Aminah Sallam; Olufunmilayo I Olopade; Dezheng Huo Journal: Cancer Epidemiol Biomarkers Prev Date: 2019-12-23 Impact factor: 4.254
Authors: Reshma Jagsi; Kent A Griffith; Allison W Kurian; Monica Morrow; Ann S Hamilton; John J Graff; Steven J Katz; Sarah T Hawley Journal: J Clin Oncol Date: 2015-04-06 Impact factor: 44.544
Authors: Ava Kwong; Vivian Y Shin; John C W Ho; Eunyoung Kang; Seigo Nakamura; Soo-Hwang Teo; Ann S G Lee; Jen-Hwei Sng; Ophira M Ginsburg; Allison W Kurian; Jeffrey N Weitzel; Man-Ting Siu; Fian B F Law; Tsun-Leung Chan; Steven A Narod; James M Ford; Edmond S K Ma; Sung-Won Kim Journal: J Med Genet Date: 2015-07-17 Impact factor: 6.318
Authors: Oyewale O Shiyanbola; Brian L Sprague; John M Hampton; Kim Dittus; Ted A James; Sally Herschorn; Ronald E Gangnon; Donald L Weaver; Amy Trentham-Dietz Journal: Cancer Date: 2016-05-31 Impact factor: 6.860