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ScienceDaily
"Descriptions of the identity of these genes and their frequency was
lacking in the medical literature," Dr. DiSilvestro explains. "The goal
of this research was to better define these issues."
More than 1,900 women with ovarian cancer who were identified through
the University of Washington gynecologic tissue bank and from various
GOG clinical trials made up the study population.
What the evaluations revealed was that 18 percent of the women with
ovarian cancer carried mutations in genes associated with ovarian cancer
risk beyond the BRCA1 and BRCA2 genes.
Journal Reference:
- Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncology, 2015; 1 DOI: 10.1001/jamaoncol.2015.5495
Conclusions and Relevance
Of 1915 patients with OC, 347 (18%) carried pathogenic germline mutations in genes associated with OC risk. PALB2 and BARD1 are suspected OC genes and together with established OC genes (BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH2, MLH1, PMS2, and MSH6) bring the total number of genes suspected to cause hereditary OC to 11.
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