Ambry Genetics

Breast and Ovarian Cancers: More Genes Than BRCA1 and BRCA2 Interview with:
Ambry GeneticsShuwei Li, PhD
Principal Statistical Geneticist
Ambry Genetics What is the background for this study? What are the main findings?

Response: Breast cancer is the most commonly diagnosed cancer, while ovarian cancer is the fifth leading cause of death due to cancer, in US women. Since the discovery of BRCA1 and BRCA2, multiple genes have been reported as risk factors; however, it is still unclear whether the known findings represent the complete genetic landscape of breast and ovarian cancers.

Our team performed exome sequencing on more than 10,000 breast and/or ovarian cancer patients and nearly 4,000 controls. We observed increased risk of breast cancer associated with PALB2, ATM, CHEK2 and MSH6 genes, and increased risk of ovarian cancer associated with MSH6, RAD51C, TP53 and ATM genes. What should readers take away from your report?

Response: This study confirmed several known breast or ovarian cancer gene associations, and implicated new roles for MSH6 and ATM as moderate-risk breast and ovarian cancer susceptibility genes, respectively. What recommendations do you have for future research as a result of this work?

Response: Our results have the potential to serve as a foundation for future epidemiologic, clinical and functional studies of breast and ovarian cancer. We are hopeful that the data we are sharing through AmbryShare will promote and inform such research, inspire more open and widespread data sharing, and inform comprehensive genetic testing and clinical practice. Is there anything else you would like to add? 

Response: Many laboratories around the world are generating important genetic data by testing patients, and these are critical to the medical community. We are sharing this aggregated anonymous data ( with our commitment to improve access to patient care.

Disclosures: All authors were employed by and received salaries from Ambry Genetics at the time of the study.


Lu H, Li S, Black MH, et al. Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. JAMA Oncol. Published online August 16, 2018. doi:10.1001/jamaoncol.2018.2956

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Last Updated on August 21, 2018 by Marie Benz MD FAAD