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

T Peelen, M van Vliet, A Petrij-Bosch, R Mieremet, C Szabo, A M van den Ouweland, F Hogervorst, R Brohet, M J Ligtenberg, E Teugels, R van der Luijt, A H van der Hout, J J Gille, G Pals, I Jedema, R Olmer, I van Leeuwen, B Newman, M Plandsoen, M van der Est & 5 others G Brink, S Hageman, P J Arts, M M Bakker, P Devilee

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)1041-9
Number of pages9
JournalAmerican journal of human genetics
Volume60
Issue number5
Publication statusPublished - May 1997

Cite this

Peelen, T., van Vliet, M., Petrij-Bosch, A., Mieremet, R., Szabo, C., van den Ouweland, A. M., ... Devilee, P. (1997). 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, 60(5), 1041-9.
Peelen, T ; 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. / A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. In: American journal of human genetics. 1997 ; Vol. 60, No. 5. pp. 1041-9.
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title = "A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families",
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.",
keywords = "Adult, Belgium/epidemiology, Breast Neoplasms/epidemiology, Female, Founder Effect, Gene Frequency, Genes, BRCA1, Genetic Testing, Genotype, Haplotypes, Humans, Incidence, Mutation, Netherlands/epidemiology, Ovarian Neoplasms/epidemiology, Phenotype",
author = "T Peelen and {van Vliet}, M and A Petrij-Bosch and R Mieremet and C Szabo and {van den Ouweland}, {A M} and F Hogervorst and R Brohet and Ligtenberg, {M J} and E Teugels and {van der Luijt}, R and {van der Hout}, {A H} and Gille, {J J} and G Pals and I Jedema and R Olmer and {van Leeuwen}, I and B Newman and M Plandsoen and {van der Est}, M and G Brink and S Hageman and Arts, {P J} and Bakker, {M M} and P Devilee",
year = "1997",
month = "5",
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pages = "1041--9",
journal = "American journal of human genetics",
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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 1997, '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, pp. 1041-9.

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

In: American journal of human genetics, Vol. 60, No. 5, 05.1997, p. 1041-9.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

AU - Peelen, T

AU - van Vliet, M

AU - Petrij-Bosch, A

AU - Mieremet, R

AU - Szabo, C

AU - van den Ouweland, A M

AU - Hogervorst, F

AU - Brohet, R

AU - Ligtenberg, M J

AU - Teugels, E

AU - van der Luijt, R

AU - van der Hout, A H

AU - Gille, J J

AU - Pals, G

AU - Jedema, I

AU - Olmer, R

AU - van Leeuwen, I

AU - Newman, B

AU - Plandsoen, M

AU - van der Est, M

AU - Brink, G

AU - Hageman, S

AU - Arts, P J

AU - Bakker, M M

AU - Devilee, P

PY - 1997/5

Y1 - 1997/5

N2 - 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.

AB - 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.

KW - Adult

KW - Belgium/epidemiology

KW - Breast Neoplasms/epidemiology

KW - Female

KW - Founder Effect

KW - Gene Frequency

KW - Genes, BRCA1

KW - Genetic Testing

KW - Genotype

KW - Haplotypes

KW - Humans

KW - Incidence

KW - Mutation

KW - Netherlands/epidemiology

KW - Ovarian Neoplasms/epidemiology

KW - Phenotype

M3 - Article

VL - 60

SP - 1041

EP - 1049

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 5

ER -