Prevalence and spectrum of pathogenic germline variants in intestinal and pancreatobiliary type of ampullary cancer.

CONCLUSION: This study reports spectrum of PGVs in intestinal and pancreatobiliary differentiation of ampullary carcinoma at higher frequency through whole exome sequencing. PGVs were most frequently found in DNA repair genes. Detecting PGVs through tumor-normal sequencing may identify therapeutically actionable and double-hit mutations that can guide towards appropriate management. PMID: 33341547 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33341547?dopt=Abstract

Source: Pathology, Research and Practice - December 4, 2020 Category: Pathology Authors: Kumari N, Singh RK, Mishra SK, L R, Mohindra S, Krishnani N Tags: Pathol Res Pract Source Type: research