August 29, 2018
Using whole-exome sequencing, researchers have identified a handful of non-BRCA predisposition genes for breast and ovarian cancer. They published their findings online August 16, 2018, in JAMA Oncology.
“The results of this large-scale exome sequencing of patients and controls shed light on both well-established and controversial non-BRCA predisposition gene associations with breast or ovarian cancer reported to date,” researchers wrote, “and may implicate additional breast or ovarian cancer susceptibility gene candidates involved in DNA repair and genomic maintenance.”
Researchers conducted whole-exome sequencing and gene-phenotype associations for 11,416 patients with breast cancer, ovarian cancer, or both and 3,988 control subjects who underwent genetic testing.
The results identified 4 non-BRCA genes associated with increased breast cancer risk: ATM, CHEK2, PALB2, and MSH6. Associated with increased ovarian cancer risk were the following 4 non-BRCA genes: MSH6, RAD51C, TP53, and ATM.
“Neither the MRN complex genes nor CDKN2A was associated with increased breast or ovarian cancer risk,” researchers wrote. “The findings also do not support previously reported breast cancer associations with the ovarian cancer susceptibility genes BRIP1, RAD51C, and RAD51D, or mismatch repair genes MSH2 and PMS2.”
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