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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. / Meindl, Alfons; Hellebrand, Heide; Wiek, Constanze; Erven, Verena; Wappenschmidt, Barbara; Niederacher, Dieter; Freund, Marcel; Lichtner, Peter; Hartmann, Linda; Schaal, Heiner; Ramser, Juliane; Honisch, Ellen; Kubisch, Christian; Wichmann, Hans E; Kast, Karin; Deissler, Helmut; Engel, Christoph; Müller-Myhsok, Bertram; Neveling, Kornelia; Kiechle, Marion; Mathew, Christopher G; Schindler, Detlev; Schmutzler, Rita K; Hanenberg, Helmut.

In: NAT GENET, Vol. 42, No. 5, 5, 2010, p. 410-414.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Meindl, A, Hellebrand, H, Wiek, C, Erven, V, Wappenschmidt, B, Niederacher, D, Freund, M, Lichtner, P, Hartmann, L, Schaal, H, Ramser, J, Honisch, E, Kubisch, C, Wichmann, HE, Kast, K, Deissler, H, Engel, C, Müller-Myhsok, B, Neveling, K, Kiechle, M, Mathew, CG, Schindler, D, Schmutzler, RK & Hanenberg, H 2010, 'Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.', NAT GENET, vol. 42, no. 5, 5, pp. 410-414. <http://www.ncbi.nlm.nih.gov/pubmed/20400964?dopt=Citation>

APA

Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., Ramser, J., Honisch, E., Kubisch, C., Wichmann, H. E., Kast, K., Deissler, H., Engel, C., Müller-Myhsok, B., Neveling, K., ... Hanenberg, H. (2010). Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. NAT GENET, 42(5), 410-414. [5]. http://www.ncbi.nlm.nih.gov/pubmed/20400964?dopt=Citation

Vancouver

Meindl A, Hellebrand H, Wiek C, Erven V, Wappenschmidt B, Niederacher D et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. NAT GENET. 2010;42(5):410-414. 5.

Bibtex

@article{9c213670f90c4e748073b89645b180b9,
title = "Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.",
abstract = "Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia-like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. These include two frameshift-causing insertions, two splice-site mutations and two nonfunctional missense mutations. The mutations were found exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors (BC/OC; 1.3%) and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls. These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis.",
keywords = "Germany, Humans, Female, Mutation, Phenotype, Pedigree, Alleles, Case-Control Studies, Models, Genetic, Breast Neoplasms/*genetics, DNA-Binding Proteins/genetics, *Genetic Predisposition to Disease, Ovarian Neoplasms/*genetics, *Germ-Line Mutation, Fanconi Anemia/genetics, Germany, Humans, Female, Mutation, Phenotype, Pedigree, Alleles, Case-Control Studies, Models, Genetic, Breast Neoplasms/*genetics, DNA-Binding Proteins/genetics, *Genetic Predisposition to Disease, Ovarian Neoplasms/*genetics, *Germ-Line Mutation, Fanconi Anemia/genetics",
author = "Alfons Meindl and Heide Hellebrand and Constanze Wiek and Verena Erven and Barbara Wappenschmidt and Dieter Niederacher and Marcel Freund and Peter Lichtner and Linda Hartmann and Heiner Schaal and Juliane Ramser and Ellen Honisch and Christian Kubisch and Wichmann, {Hans E} and Karin Kast and Helmut Deissler and Christoph Engel and Bertram M{\"u}ller-Myhsok and Kornelia Neveling and Marion Kiechle and Mathew, {Christopher G} and Detlev Schindler and Schmutzler, {Rita K} and Helmut Hanenberg",
year = "2010",
language = "English",
volume = "42",
pages = "410--414",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

AU - Meindl, Alfons

AU - Hellebrand, Heide

AU - Wiek, Constanze

AU - Erven, Verena

AU - Wappenschmidt, Barbara

AU - Niederacher, Dieter

AU - Freund, Marcel

AU - Lichtner, Peter

AU - Hartmann, Linda

AU - Schaal, Heiner

AU - Ramser, Juliane

AU - Honisch, Ellen

AU - Kubisch, Christian

AU - Wichmann, Hans E

AU - Kast, Karin

AU - Deissler, Helmut

AU - Engel, Christoph

AU - Müller-Myhsok, Bertram

AU - Neveling, Kornelia

AU - Kiechle, Marion

AU - Mathew, Christopher G

AU - Schindler, Detlev

AU - Schmutzler, Rita K

AU - Hanenberg, Helmut

PY - 2010

Y1 - 2010

N2 - Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia-like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. These include two frameshift-causing insertions, two splice-site mutations and two nonfunctional missense mutations. The mutations were found exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors (BC/OC; 1.3%) and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls. These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis.

AB - Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia-like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. These include two frameshift-causing insertions, two splice-site mutations and two nonfunctional missense mutations. The mutations were found exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors (BC/OC; 1.3%) and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls. These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis.

KW - Germany

KW - Humans

KW - Female

KW - Mutation

KW - Phenotype

KW - Pedigree

KW - Alleles

KW - Case-Control Studies

KW - Models, Genetic

KW - Breast Neoplasms/genetics

KW - DNA-Binding Proteins/genetics

KW - Genetic Predisposition to Disease

KW - Ovarian Neoplasms/genetics

KW - Germ-Line Mutation

KW - Fanconi Anemia/genetics

KW - Germany

KW - Humans

KW - Female

KW - Mutation

KW - Phenotype

KW - Pedigree

KW - Alleles

KW - Case-Control Studies

KW - Models, Genetic

KW - Breast Neoplasms/genetics

KW - DNA-Binding Proteins/genetics

KW - Genetic Predisposition to Disease

KW - Ovarian Neoplasms/genetics

KW - Germ-Line Mutation

KW - Fanconi Anemia/genetics

M3 - SCORING: Journal article

VL - 42

SP - 410

EP - 414

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 5

M1 - 5

ER -