Influence of Pathogenic, Likely Pathogenic Germline Variants on Cervical Cancer

An analysis of pathogenic and likely pathogenic germline variants among Chinese patients with gynecologic cancers highlights the contributions of heritable factors to cervical cancer. In a study appearing in JAMA Network Open, researchers from Fudan University Shanghai Cancer Center and elsewhere conducted a retrospective, cross-sectional study of 1,610 Chinese women with ovarian, endometrial, or cervical cancer who underwent tumor-normal sequencing using a 520-gene panel. Of the patients with ovarian cancer, 20.5 percent had pathogenic or likely pathogenic variants, while 13.4 percent of those with endometrial cancer did and 6.4 percent with cervical cancer. Cervical cancer, the researchers note, has generally thought to be largely sporadic and attributable to human papillomavirus, but here they implicated pathogenic and likely pathogenic variants in homologous recombination repair genes like BRCA1/2. They in particular note that a link between earlier age of onset and variants in HRR genes, which they say supports an inherited predisposition for cervical cancer. "Our results underscore the necessity of investigating inheritable factors in cervical cancer, which has long been neglected," the researchers write.