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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.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.