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Oncotarget. 2018 Feb 2;9(38):25025-25033. doi: 10.18632/oncotarget.24382. eCollection 2018 May 18.

Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.

Author information

1
Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
2
Department of Surgery, the University of Hong Kong, Hong Kong.
3
Sidwell High School, Bethesda, MD, USA.
4
Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong.
5
Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong.
6
Dana Farber Cancer Institute and Harvard TH Chan School of Public Health, Boston, MA, USA.
7
Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong.
#
Contributed equally

Abstract

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) are associated with increased risk of breast and ovarian cancer. The penetrance of breast and ovarian cancer in BRCA1/2 mutation carriers has been well characterized in Caucasian but not in Asian. Two studies have investigated the breast cancer risk in Asian women with BRCA1/2 mutations, and no published estimates are available for ovarian cancer. Therefore, we estimated the age-specific cumulative risk of BRCA1/2-associated breast and ovarian cancer in Chinese women. From Jan 2007 to Nov 2015, the Hong Kong Hereditary Breast Cancer Family Registry identified 1635 families with hereditary breast-ovarian cancer. Among probands in these families, 66 had BRCA1 mutations, 84 had BRCA2 mutations, and 1,485 tested negative for BRCA1/2 mutations. Using the female first-degree relatives of these probands, we estimated the risk of breast and ovarian cancer using a modified marginal likelihood approach. Estimates of breast cancer penetrance by age 70 were 53.7% (95% CI 34.5-71.6%) for BRCA1 mutation carriers and 48.3% (95% CI 31.8-68.5%) for BRCA2. The estimated risk of ovarian cancer by age 70 was 21.5% and 7.3% for Chinese women carrying BRCA1 or BRCA2 mutation respectively. A meta-analysis of available studies in Asian women revealed pooled estimates of breast cancer risk by age 70 of 44.8% (95% CI 33-57.2%) and 40.7% (95% CI 31.3-50.9%) for BRCA1 and BRCA2 mutation carriers respectively. These data suggest that BRCA1/2-associated breast cancer risk for Chinese women is similar to that for Caucasian women, although BRCA1/2-associated ovarian cancer risks are lower for Chinese women.

KEYWORDS:

BRCA1; BRCA2; Chinese population; breast and ovarian cancer; penetrance

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