CHEK2 – Familial Ovarian Cancer

CHEK2 encodes a serine/threonine checkpoint kinase critical for DNA damage signaling. Germline CHEK2 variants are well-established in hereditary breast and other cancers, but its role in familial ovarian cancer remains underexplored. In a cohort of 335 non-mucinous epithelial ovarian cancer patients, 35 high-risk individuals were sequenced for a 27-gene panel; one harbored a CHEK2 mutation in the homologous recombination pathway (5.7%) (PMID:28188963). No segregation analysis or ovarian cancer-specific functional assays were presented. Broader reviews of non-BRCA ovarian cancer predisposition genes acknowledge CHEK2 among moderate-risk loci but lack quantitative case counts or variant characterization in familial ovarian cancer (PMID:32895312).

Key take-home: Current evidence for CHEK2 in familial ovarian cancer is limited; genetic testing may be reserved for selected high-risk patients until further confirmatory studies.

References

• The Journal of Obstetrics and Gynaecology Research • 2017 • High-risk epithelial ovarian cancer patients for hereditary ovarian cancer PMID:28188963
• International Journal of Gynecological Cancer • 2020 • Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes PMID:32895312

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