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PMID: 9150151 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

American journal of human genetics ·Vol. 60 ·No. 5 ·1997-05-00 ·Pages 1041-9

Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, Hogervorst F, Brohet R, Ligtenberg MJ, Teugels E, van der Luijt R, van der Hout AH, Gille JJ, Pals G, Jedema I, Olmer R, van Leeuwen I, Newman B, Plandsoen M, van der Est M, Brink G, Hageman S, Arts PJ, Bakker MM, Devilee P

Abstract

We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported outside the Netherlands. A common haplotype spanning > or = 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated approximately 32 generations ago. No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous.

MeSH Terms

Adult Belgium/epidemiology Breast Neoplasms/epidemiology,genetics Female Founder Effect Gene Frequency Genes, BRCA1 Genetic Testing Genotype Haplotypes Humans Incidence Mutation Netherlands/epidemiology Ovarian Neoplasms/epidemiology,genetics Phenotype

Authors & Affiliations

25 authors, click to expand affiliations / ORCID

Peelen T

Department of Human Genetics, Leiden University Medical Center, The Netherlands.

van Vliet M

Petrij-Bosch A

Mieremet R

Szabo C

van den Ouweland A M

Hogervorst F

Brohet R

Ligtenberg M J

Teugels E

van der Luijt R

van der Hout A H

Gille J J

Pals G

Jedema I

Olmer R

van Leeuwen I

Newman B

Plandsoen M

van der Est M

Brink G

Hageman S

Arts P J

Bakker M M

Devilee P

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1997-05-00

Pages

1041-9

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1712432

Subset

Grants

NCI NIH HHS · P50 CA58223 · United States

NCI NIH HHS · R01-CA27632 · United States

Corrections

CommentIn

PMID: 9150148

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PubMed source PMC Full Text View journal details

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A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

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