Comprehensive clinical characterization of patients with BRCA1 : c.5017_5019del germline variant.

Yoon Ju Bang Won Kyung Kwon Jong Won Kim Jeong Eon Lee Boo Yeon Jung Mina Kim Namshin Kim Jeongshin An Seung-Pil Jung Hong Kyu Kim Sung-Won Kim Hyun Jo Youn Jai Min Ryu Sung-Won Kimnull null

Published in: Annals of surgical treatment and research (2022)

:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families.

Keyphrases

healthcare
public health
genome wide
dna repair
clinical practice
gene expression
oxidative stress
combination therapy
hiv testing