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PLOS Papers on Orofacial Cleft Genetics, BRCA1/2 in Prostate Cancer in Morocco, More

In PLOS Genetics, a Johns Hopkins University-led team investigates genetic contributors to orofacial cleft (OFC) conditions, including cleft lip with cleft palate, cleft lip without cleft palate, and cleft palate alone. With genotyping profiles for nearly 1,800 parent-child trios affected by cleft lip with or without cleft palate (CL/P) and more than 600 trios of children with cleft palate alone and their unaffected parents, the researchers narrowed in on half a dozen overlapping loci in CL/P and cleft palate, along with several novel loci and loci linked to specific pairs of OFC subtypes. "In summary," they report, "we found suggestive evidence for new genetic regions and confirmed some recognized OFC genes either exerting shared risk or with opposite effects on risk to OFC subtypes."

Researchers from Morocco look at the frequency of risky germline mutations in BRCA1 or BRCA2 in prostate cancer patients from that country for a paper appearing in PLOS One. The team did targeted BRCA1/2 exon and intron sequencing to search for pathogenic BRCA1/2 mutations in 30 individuals with familial forms of prostate cancer, focusing in on one BRCA1 mutation and two BRCA2 mutations that were found in four unrelated patients. The analysis also unearthed dozens of unclassified variants or polymorphisms. "[A]lthough our results are considered preliminary due to the small sample size, they underline the importance of BRCA1 and BRCA2 genetic screening in hereditary [prostate cancer]," the authors write, adding that "early identification of germline mutations in BRCA1 and BRCA2 genes may be relevant for management of patients with [prostate cancer] and also for preventing future cancers in their relatives."

For another paper in PLOS One, a team from the Affiliated Hospital of Southwest Medical University in China presents findings linking circulating tumor cell (CTC) features to disease outcomes in individuals with bladder cancer. With their meta-analysis of CTC profiles and clinical data for more than 1,000 bladder cancer patients assessed in 11 previous studies, the researchers uncovered apparent ties between the presence of CTCs and shorter-than-usual overall survival and disease-free survival times. "Our meta-analysis results strongly indicated that the presence of CTCs in the bloodstream was a clinically promising prognostic biomarker of disease survival and progression for patients with [bladder cancer]," the authors conclude, noting that "higher-quality cohort studies are needed to confirm our conclusions."

The Scan

Sick Newborns Selected for WGS With Automated Pipeline

Researchers successfully prioritized infants with potential Mendelian conditions for whole-genome sequencing or rapid whole-genome sequencing, as they report in Genome Medicine.

Acne-Linked Loci Found Through GWAS Meta-Analysis

Researchers in the European Journal of Human Genetics find new and known acne vulgaris risk loci with a genome-wide association study and meta-analysis, highlighting hair follicle- and metabolic disease-related genes.

Retina Cell Loss Reversed by Prime Editing in Mouse Model of Retinitis Pigmentosa

A team from China turns to prime editing to correct a retinitis pigmentosa-causing mutation in the PDE6b gene in a mouse model of the progressive photoreceptor loss condition in the Journal of Experimental Medicine.

CRISPR Screens Reveal Heart Attack-Linked Gene

Researchers in PLOS Genetics have used CRISPR screens to home in on variants associated with coronary artery disease that affect vascular endothelial function.