Contains fulltext :
                  25573.PDF (publisher's version ) (Open Access

Arts, P.J.W.

Asperen, C.J. van

Bakker, E.

Bakker, M.M.

Bonduelle, M.

Brink, G.

Brohet, R.M.

Brunner, H.G.

Cornelisse, C.J.

Devilee, P.

Est, M. van der

Gille, J.J.P.

Greve, J. de

Hageman, S.

Halley, D.J.

Hogervorst, F.B.L.

Hout, A.H. van

Jansen, R.

Jedema, I.

King, M.C.

Klijn, J.G.M.

Knijff, P. de

Leeuwen, J.P.P.M. van

Ligtenberg, M.J.L.

Looij, E. van de

Luijt, R. van der

Meijers-Heijboer, H.

Menko, F.H.

Mieremet, R.

Newman, B.

Neyns, B.

Olmer, R.

Ommen, G.J.B. van

Oosterwijk-Wakka, J.C.

Ouweland, A.M.W. van den

Pals, G.

Peelen, T.

Petrij-Bosch, A.

Plandsoen, M.

Sijmons, R.H.

Smeets, H.J.M.

Szabo, C.

Teugels, E.

Vasen, H.F.A.

Veer, L.J. van 't

Vliet, M. van

Willems, H.W.

Szabo, C.I.

Luijt, R.B. van der

Hout, H.P.J. van

King, M.

Vasen, H.F.

Veer, M.B. van 't

NARCIS 

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

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 greater than or equal to 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 similar to 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.</p

Peelen, T

vanVliet, M

PetrijBosch, A

Mieremet, R

Szabo, C

van den Ouweland, AMW

Hogervorst, F

Brohet, R

Ligtenberg, MJL

Teugels, E

vanderLuijt, R

van der Hout, AH

Gille, JJP

Pals, G

Jedema, I

Olmer, R

van Leeuwen, I

Newman, B

Plandsoen, M

vanderEst, M

Brink, G

Hageman, S

Arts, PJW

Bakker, MM

Willems, HW

vanderLooij, E

Neyns, B

Bonduelle, M

Jansen, R

Oosterwijk, JC

Sijmons, R

Smeets, HJM

van Asperen, CJ

MeijersHeijboer, H

Klijn, JGM

deGreve, J

King, MC

Menko, FH

Brunner, HG

Halley, D

vanOmmen, GJB

Vasen, HFA

Cornelisse, CJ

vantVeer, LJ

deKnijff, P

Bakker, E

Devilee, P

Dissertations of the University of Groningen

Radboud Repository

vandenOuweland, AMW

vanderHout, AH

Jedema, [No Value]

vanLeeuwen, [No Value]

vanAsperen, CJ

University of Groningen

van Vliet, M@

Petrij-Bosch, A

van den Ouweland, Ans

van der Luijt, R

van der Est, MN

Bakker, MM@

van der Looij, E

Jansen, Rick

Meijers-Heijboer, EJ

Klijn, Jan

de Greve, J

King, M-C

Halley, Dicky

van Ommen, G-JB

van 't Veer, LJ (Laura)

de Knijff, P

Bakker, E@

EUR Research Repository

A High Proportion of Novel Mutations in BRCA1 with Strong Founder Effects among Dutch and Belgian Hereditary Breast and Ovarian Cancer Families

ARTS repository - University of Groningen

Proceedings - University of Groningen

University of Groningen Research Database

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

Abstract

Similar works

Full text

Available Versions

NARCIS

Dissertations of the University of Groningen

Radboud Repository

NARCIS

University of Groningen

EUR Research Repository

ARTS repository - University of Groningen

Proceedings - University of Groningen

Proceedings - University of Groningen

University of Groningen Research Database