Exome Sequencing Study Implicates New Breast, Ovarian Cancer Susceptibility Genes

NEW YORK (GenomeWeb) – A team led by researchers at Ambry Genetics has conducted a large-scale exome sequencing study to confirm reported predisposition genes for breast and ovarian cancer, as well as identify new genetic mutations associated with these diseases.

As the researchers noted today in JAMA Oncology, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian cancer, or both since the discovery of BRCA1 and BRCA2, but it is still unclear whether the complete genetic map of these cancers has been drawn.

They began with a sample set from 11,416 patients with clinical features of breast cancer, ovarian cancer, or both who were referred for genetic testing from 1,200 hospitals and clinics across the US between 2014 and 2015. They also analyzed 3,988 controls who were referred for genetic testing for non-cancerous conditions such as cystic fibrosis or rare inherited cardiovascular conditions. The researchers performed whole-exome sequencing and examined the gene-phenotype associations, and conducted case-control analyses as a set of reference controls using the Genome Aggregation Database.

After cleaning and filtering the data, the team performed burden tests for 625 cancer genes among 9,639 breast cancer and 2,051 ovarian cancer cases compared

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