论文信息 - MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1

MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1

The genetic cause of very young onset ovarian cancer (VYOC), diagnosed under 30 years of age, is unclear. The histology and underlying genetics in VYOC is significantly different from the overall epithelial ovarian cancer (EOC) population; we aimed to explore this in VYOC cases known to the NorthWest of England. We found mismatch repair genes to be the most commonly affected in VYOCs, especially MSH2. The cumulative likelihood of an EOC in MSH2 heterozygotes is >2% by age 35, with this likelihood still below 0.5% for BRCA1 and rare for BRCA2.

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