Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants

J Genet. 2024:103:31.

Abstract

Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M). All the four family members show segregation of RAD51D (rs200564819). Other incidental findings ADAMTS13 (rs142572218) and SYCE1 (rs201873178) genetic variants in proband and son, and LIAS (rs546751789) and PDHA1(rs747051654) genetic variants in son have also been reported.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Breast Neoplasms / genetics
  • DNA-Binding Proteins* / genetics
  • Exome Sequencing
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Germ-Line Mutation*
  • Humans
  • Male
  • Middle Aged
  • Ovarian Neoplasms* / genetics
  • Pedigree*

Substances

  • DNA-Binding Proteins
  • RAD51D protein, human