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Article

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.

American journal of human genetics - 1 Feb 1996

Neuhausen S L, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick M H, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King M C, Goldgar D E

Abstract excerpt

Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families. To investigate mutation origin and mutation-specific phenotypes due to BRCA1, we constructed a haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast/ovarian cancer families selected for having one of six recurrent BRCA1 mutations. Tests of both...

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Identifiers

PMID: 8571953
PMCID: PMC1914544

Genes

BRCA1

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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