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Article

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

Nature genetics - 1 Nov 1997

Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, Hogervorst F B, Hageman S, Arts P J, Ligtenberg M J, Meijers-Heijboer H, Klijn J G, Vasen H F, Cornelisse C J, van 't Veer L J, Bakker E, van Ommen G J, Devilee P

Abstract excerpt

To date, more than 300 distinct small deletions, insertions and point mutations, mostly leading to premature termination of translation, have been reported in the breast/ovarian-cancer susceptibility gene BRCA1. The elevated frequencies of some mutations in certain ethnic subpopulations are caused by founder effects, rather than by mutation hotspots. Here we report that the currently available mutation spectrum...

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Identifiers

PMID: 9354803
DOI: 10.1038/ng1197-341

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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