Variant Linked to BRCA1 Silencing Found in Two Families Affected by Breast, Ovarian Cancer

NEW YORK (GenomeWeb) – Researchers have uncovered a variant that leads to the epigenetic silencing of the BRCA1 gene in families affected by breast and ovarian cancer.

Germline mutations in BRCA1 and BRCA2 are found in about 20 percent of families in which multiple members are affected by early-onset breast and ovarian cancer. But for other families, the cause of their breast and ovarian cancer has been unclear.

Researchers from the University of Manchester screened nearly 50 individuals from affected families and uncovered two women with hypermethylated BRCA1 promoters. As they reported yesterday in the American Journal of Human Genetics, the researchers found that these two families harbored a dominantly inherited 5’UTR variant that leads to epigenetic silencing of BRCA1.

“This means that by testing this area outside of the gene and this on/off switch into our existing genetic testing could allow us to identify more women who are at greater risk of developing breast and ovarian cancer and look at preventative treatment and also rule out those at lower risk,” first author Gareth Evans from the NIHR Manchester Biomedical Research Center said in a statement.

Promoter hypermethylation, the researchers noted, is present in about 10 percent of sporadic breast

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