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Article

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

American journal of medical genetics. Part A - 1 Nov 2024

Demir Oguzhan, Saglam Kubra Adanur, Yilmaz Mustafa, Apuhan Tuna, Cebi Alper Han, Turkyilmaz Ayberk

Abstract excerpt

Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high-penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow-up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38940262
DOI: 10.1002/ajmg.a.63806

Genes

BRCA2
MLH1
MSH2
TMEM127

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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