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Article

The BRCA2 polymorphic stop codon: stuff or nonsense?

Journal of medical genetics - 1 Sept 2015

Higgs J E, Harkness E F, Bowers N L, Howard E, Wallace A J, Lalloo F, Newman W G, Evans D G

Abstract excerpt

BACKGROUND: Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. METHODS: We have noticed multiple co-occurrences of the BRCA2 c.9976A>T variant with the pathogenic BRCA2c.6275_6276delTT frameshift mutation p.(Leu2092ProfsTer7) and using a cohort study have assessed if this might...

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Source

Identifiers

PMID: 26041759
DOI: 10.1136/jmedgenet-2015-103206

Genes

BRCA2
BRCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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