Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas
With increased availability more and more patients with ovarian cancer have genetic screening with the BRCA variants being the primary target. Is this a suitable use of resources?
This paper; a prospective review of almost 1000 ovarian cancer cases looked at the incidence of BRCA variants for patients who had the commonest type being high-grade serous ovarian cancer versus the less common non-high-grade types.
BRCA variants were found in 13% of the high-grade cancers and 3% of the non-high-grade cancers. Further review showed that some of the less common cancers had incorrect pathology, the others had faulty BRCA genotyping or that the variation was only partial with incomplete penetration.
The authors suggest that BRCA genotyping for non-high-grade serousovarian cancer has no value
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