[Hereditary Tumor Medical Care in the Age of Cancer Genomic Medicine]

Gan To Kagaku Ryoho. 2022 Mar;49(3):237-242.
[Article in Japanese]

Abstract

How to efficiently suspect a germline gene variant(presumed germline pathogenic variant: PGPV)in comprehensive tumor-profiling tests using only cancer tissue(cells)as a sample is an important issue. This is because a few percent are derived from germline variants, which leads to the diagnosis of hereditary tumor syndromes and is useful information for the health management of patients and relatives. Clues include allele frequency, gene type, germline founder mutation, age of onset, present illness and past history, cancer type, family history, and tumor cell proportion. More than 97% of patients want to know such secondary findings before the test, but only about 23% of patients undergo confirmation tests even if PGPV is detected, and it is necessary to improve this in the future.

MeSH terms

  • Genetic Predisposition to Disease*
  • Genomic Medicine
  • Germ-Line Mutation*
  • Humans
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / drug therapy
  • Neoplastic Syndromes, Hereditary* / genetics