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Article

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Apr 2008

Spurdle Amanda B, Lakhani Sunil R, Healey Sue, Parry Suzanne, Da Silva Leonard M, Brinkworth Ross, Hopper John L, Brown Melissa A, Babikyan Davit, Chenevix-Trench Georgia, Tavtigian Sean V, Goldgar David E

Abstract excerpt

PURPOSE: Rare missense substitutions and in-frame deletions of BRCA1 and BRCA2 genes present a challenge for genetic counseling of individuals carrying such unclassified variants. We assessed the value of tumor immunohistochemical markers in conjunction with genetic and evolutionary approaches fo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18375895
DOI: 10.1200/JCO.2007.13.2779

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18375895-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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