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Comparing Cancer Risk Management between Females with Truncating CHEK2 1100delC versus Missense CHEK2 I157T Variants.

Genes - 5 Jul 2024

Garmendia Diego, Weidner Anne, Venton Lindsay, Pal Tuya

Abstract excerpt

Breast cancer (BC) risks imparted by CHEK2 c.1100delC ("1100delC") germline pathogenic/likely pathogenic variant (GPV) are 20-30%, compared to CHEK2 c.470T>C ("I157T") GPV with <20%, leading to different breast screening recommendations through MRI. We compared cancer risk management (CRM) across these two GPVs. Study participants were adult females with an 1100delC or I157T GPV drawn from the Inherited Cancer...

Topics

Humans
Checkpoint Kinase 2
Female
Breast Neoplasms
Middle Aged
Adult
Genetic Predisposition to Disease
Aged
Mutation, Missense
Risk Management
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Source

Open in PubMed Open full text

Identifiers

PMID: 39062660
DOI: 10.3390/genes15070881
PMCID: PMC11276105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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