Research Papers:

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

LingJiao Zhang, Vivian Y. Shin, Xinglei Chai, Alan Zhang, Tsun L. Chan, Edmond S. Ma, Timothy R. Rebbeck, Jinbo Chen and Ava Kwong _

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Oncotarget. 2018; 9:25025-25033. https://doi.org/10.18632/oncotarget.24382

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LingJiao Zhang1,*, Vivian Y. Shin2,*, Xinglei Chai1, Alan Zhang3, Tsun L. Chan4,5, Edmond S. Ma4,5, Timothy R. Rebbeck6, Jinbo Chen1 and Ava Kwong2,5,7

1Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

2Department of Surgery, the University of Hong Kong, Hong Kong

3Sidwell High School, Bethesda, MD, USA

4Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong

5Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong

6Dana Farber Cancer Institute and Harvard TH Chan School of Public Health, Boston, MA, USA

7Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong

*These authors have contributed equally to this work

Correspondence to:

Ava Kwong, email: [email protected]

Jinbo Chen, email: [email protected]

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

Received: November 16, 2017     Accepted: January 03, 2018     Epub: February 02, 2018    Published: May 18, 2018


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.

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