Eur J Cancer: ERCC3, a new risk gene for ovarian cancer?

Hereditary breast and ovarian cancer syndrome (HBOC) is a genetic disorder that increases the risk of breast and ovarian cancer (OC) in individuals at a younger age.
now clear that HBOC cases are closely related to the BRCA1-BRCA2 mutation, but less than half of the cases can be explained by the BRCA1-BRCA2 mutation.
with the progress of the study, more and more genes associated with increased risk of BC or OC have been revealed, but the pathogenic factors in many cases are still unclear.
in patients of German Jewish descent, the relapsed hybrid short-cut mutation of the ERCC3 gene increases the risk of breast cancer.
the study looked at the role of ERCC3 truncation mutations in a group of suspected HBOC patients.
researchers analyzed multiple genes, including ERCC3, from 1,311 patients, and compared 453 Spanish cancer-free individuals with 51,343 non-Finnish, non-cancer European individuals.
found 13 cases of ERCC3 hybrid short-term variation (0.99%), of which 5 also carried high/chinese and foreign explicit HBOC gene mutations (BRCA1, BRCA2, CHEK2 and TP53) for multiple point-inherited tumor allogeneic syndrome (MIAS).
compared to 453 Spaniards, the frequency was 0.22 per cent, similar to the frequency (0.24 per cent) observed in 51,343 non-Finnish European GonomAD populations.
the ERCC3 short-cut mutation has a significant correlation with the BC risk (advantage ratio of 2.25, 95% CI 0.06-5.93, P=0.11); A significant association between ERCC3 short-cut mutations and OC risk was observed (OR 4.74,95% CI 0.01-14.34, P=0.028), even after the Removal of Minas cases.
is understood to be the largest study in HBOC individuals conducting a comprehensive analysis of ERCC3 mutations, and the first to determine that ERCC3 is the cancer risk of OC.
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