Litcius/Paper detail

Hereditary cancer syndromes

Evgeny N. Imyanitov, Ekatherina Sh. Kuligina, Anna P. Sokolenko, Evgeny N. Suspitsin, Grigoriy A. Yanus, Aglaya G. Iyevleva, Alexandr O. Ivantsov, Svetlana N. Aleksakhina

2023World Journal of Clinical Oncology70 citationsDOIOpen Access PDF

Abstract

the somatic inactivation of the remaining copy of the affected gene. Earlier studies on cancer families suggested nearly fatal penetrance for the majority of HCS genes; however, population-based investigations and especially large-scale next-generation sequencing data sets demonstrate that the presence of some highly-penetrant PVs is often compatible with healthy status. Hereditary cancer research initially focused mainly on cancer detection and prevention. Recent studies identified multiple HCS-specific drug vulnerabilities, which translated into the development of highly efficient therapeutic options.

Topics & Concepts

MedicineCancerMendelian inheritancePenetranceCancer syndromeOvarian cancerPopulationBreast cancerGermline mutationBioinformaticsGeneticsGenePhenotypeMutationInternal medicineBiologyEnvironmental healthGenetic factors in colorectal cancerBRCA gene mutations in cancerCancer Genomics and Diagnostics