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Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.

Breast cancer research and treatment - 1 Aug 2012

Yanowsky Kira, Barroso Alicia, Osorio Ana, Urioste Miguel, Benitez Javier, Martinez-Delgado Beatriz

Abstract excerpt

A majority of the familial breast cancer cases are not explained by mutations in the best-known high susceptibility genes BRCA1 and BRCA2. Since there is a link between DNA repair and telomere maintenance mechanisms, we have investigated for the first time the role of telomere genes in breast cancer predisposition. By a combination of DHPLC and direct sequencing, we screened for sequence variation in 14...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22752289
DOI: 10.1007/s10549-012-2141-2

Genes

BRCA1
NHP2
RAD54B
BRCA2
TINF2
TNKS
TPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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