Two Distinct Deleterious Causative Variants in a Family with Multiple Cancer-Affected Patients

CONCLUSION: Herein, we interestingly identify two distinct deleterious causative variants (CHEK2: NM_007194.4: c.538C>T, p.Arg180Cys and MLH1: NM_000249.4, c.844G>A, p.Ala282Thr) in a family with several cancer-affected members. Furthermore, this study's findings established the utility of WES in the genetic diagnostics of cancer.PMID:37694253 | PMC:PMC10492615 | DOI:10.4103/abr.abr_366_22
Source: Biomed Res - Category: Research Authors: Source Type: research