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Article

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.

Familial cancer - 1 Jan 2023

Koivuluoma Susanna, Vorimo Sandra, Mattila Tiina M, Tervasmäki Anna, Kumpula Timo, Kuismin Outi, Winqvist Robert, Moilanen Jukka, Mantere Tuomo, Pylkäs Katri

Abstract excerpt

TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow failure syndrome characterized by mucocutaneous abnormalities and cancer predisposition. Recent reports indicate that specific TINF2 truncating mutations act as high...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35590014
DOI: 10.1007/s10689-022-00295-z
PMCID: PMC9829577

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Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.PMID 35590014Read ↗

Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer.Semantic proximity Read ↗

A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.Semantic proximity Read ↗

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.Semantic proximity Read ↗

TIN2 Protein Dyskeratosis Congenita Missense Mutants Are Defective in Association with TelomeraseSemantic proximity Read ↗

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.Semantic proximity Read ↗

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility.Semantic proximity Read ↗

A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast CancerSemantic proximity Read ↗

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.Semantic proximity Read ↗

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The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.Semantic proximity Read ↗

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