publication . Article . Other literature type . 2016

RAD51B in Familial Breast Cancer

Pelttari, Liisa M; Khan, Sofia; Vuorela, Mikko; Kiiski, Johanna I; Vilske, Sara; Nevanlinna, Viivi; Ranta, Salla; Schleutker, Johanna; Winqvist, Robert; Kallioniemi, Anne; ...
  • Published: 05 May 2016
Abstract
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 con...
Subjects
free text keywords: Breast Neoplasms, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Genotyping Techniques, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single Nucleotide, Journal Article, /dk/atira/pure/researchoutput/pubmedpublicationtype/D016428, Biolääketieteet - Biomedicine, Syöpätaudit - Cancers, -, Medizinische Fakultät, Medizin, Research Article, Medicine and Health Sciences, Oncology, Cancers and Neoplasms, Breast Tumors, Breast Cancer, Biology and Life Sciences, Evolutionary Biology, Population Genetics, Haplotypes, Genetics, Population Biology, Gynecological Tumors, Ovarian Cancer, Computational Biology, Genome Complexity, Introns, Genomics, Heredity, Genetic Mapping, Variant Genotypes, People and Places, Population Groupings, Ethnicities, Finns, Geographical Locations, Europe, Finland, Cancer Detection and Diagnosis, Cancer Screening, Medicine, R, Science, Q, GENOME-WIDE ASSOCIATION, OVARIAN-CANCER, CONFER SUSCEPTIBILITY, GERMLINE MUTATIONS, 14Q24.1 RAD51L1, FANCONI-ANEMIA, RISK, GENE, VARIANTS, XRCC2, 3123 Gynaecology and paediatrics, 3122 Cancers, ddc:610
Funded by
NHMRC| Risk and prognostic factors for breast cancer of different immunohistochemical subtypes
Project
  • Funder: National Health and Medical Research Council (NHMRC) (NHMRC)
  • Project Code: 504711
  • Funding stream: NHMRC Project Grants
,
NHMRC| Epidemiology of Chronic Disease, Health Interventions and DNA Studies
Project
  • Funder: National Health and Medical Research Council (NHMRC) (NHMRC)
  • Project Code: 209057
  • Funding stream: Programs
,
NIH| Fine-mapping of 8q24 and Loci Identified in Genome-Wide Studies for Breast &Colo
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01CA132839-03
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Elucidating Loci Involved in Prostate Cancer Suceptibility
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U19CA148537-02
  • Funding stream: NATIONAL CANCER INSTITUTE
,
AKA| Search for novel genes in heritable predisposition to breast cancer
Project
  • Funder: Academy of Finland (AKA)
  • Project Code: 122715
34 references, page 1 of 3

1 Torre LA, Bray F, Siegel RL, Ferlay J, Lortet-Tieulent J, Jemal A. Global cancer statistics, 2012 CA Cancer J Clin. 2015;65: 87–108. 10.3322/caac.21262 [OpenAIRE] [DOI]

2 Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40: 17–22. 18163131 [PubMed]

3 Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res. 2010;70: 7353–7359. 10.1158/0008-5472.CAN-10-1012 20858716 [OpenAIRE] [PubMed] [DOI]

4 Suwaki N, Klare K, Tarsounas M. RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis. Semin Cell Dev Biol. 2011;22: 898–905. 10.1016/j.semcdb.2011.07.019 21821141 [OpenAIRE] [PubMed] [DOI]

5 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: 410–414. 10.1038/ng.569 20400964 [OpenAIRE] [PubMed] [DOI]

6 Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, et al Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011;43: 879–882. 10.1038/ng.893 21822267 [OpenAIRE] [PubMed] [DOI]

7 Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, et al Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet. 2012;44: 475–476. 10.1038/ng.2224 22538716 [PubMed] [DOI]

8 Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, et al Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010;42: 406–409. 10.1038/ng.570 20400963 [OpenAIRE] [PubMed] [DOI]

9 Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012;49: 184–186. 10.1136/jmedgenet-2011-100585 22232082 [OpenAIRE] [PubMed] [DOI]

10 Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, et al Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet. 2012;90: 734–739. 10.1016/j.ajhg.2012.02.0 27 22464251 [OpenAIRE] [PubMed] [DOI]

11 Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, et al Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet. 2012;49: 618–620. 10.1136/jmedgenet-2012-101191 23054243 [OpenAIRE] [PubMed] [DOI]

12 Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, et al A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41: 579–584. 10.1038/ng.353 19330030 [OpenAIRE] [PubMed] [DOI]

13 Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, et al Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet. 2012;44: 1182–1184. 10.1038/ng.2417.23001122 [OpenAIRE] [PubMed] [DOI]

14 Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, et al Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45: 353–361. 10.1038/ng.2563 23535729 [OpenAIRE] [PubMed] [DOI]

15 Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, et al Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9: e1003212 10.1371/journal.pgen.1003212 23544013 [OpenAIRE] [PubMed] [DOI]

34 references, page 1 of 3
Abstract
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 con...
Subjects
free text keywords: Breast Neoplasms, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Genotyping Techniques, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single Nucleotide, Journal Article, /dk/atira/pure/researchoutput/pubmedpublicationtype/D016428, Biolääketieteet - Biomedicine, Syöpätaudit - Cancers, -, Medizinische Fakultät, Medizin, Research Article, Medicine and Health Sciences, Oncology, Cancers and Neoplasms, Breast Tumors, Breast Cancer, Biology and Life Sciences, Evolutionary Biology, Population Genetics, Haplotypes, Genetics, Population Biology, Gynecological Tumors, Ovarian Cancer, Computational Biology, Genome Complexity, Introns, Genomics, Heredity, Genetic Mapping, Variant Genotypes, People and Places, Population Groupings, Ethnicities, Finns, Geographical Locations, Europe, Finland, Cancer Detection and Diagnosis, Cancer Screening, Medicine, R, Science, Q, GENOME-WIDE ASSOCIATION, OVARIAN-CANCER, CONFER SUSCEPTIBILITY, GERMLINE MUTATIONS, 14Q24.1 RAD51L1, FANCONI-ANEMIA, RISK, GENE, VARIANTS, XRCC2, 3123 Gynaecology and paediatrics, 3122 Cancers, ddc:610
Funded by
NHMRC| Risk and prognostic factors for breast cancer of different immunohistochemical subtypes
Project
  • Funder: National Health and Medical Research Council (NHMRC) (NHMRC)
  • Project Code: 504711
  • Funding stream: NHMRC Project Grants
,
NHMRC| Epidemiology of Chronic Disease, Health Interventions and DNA Studies
Project
  • Funder: National Health and Medical Research Council (NHMRC) (NHMRC)
  • Project Code: 209057
  • Funding stream: Programs
,
NIH| Fine-mapping of 8q24 and Loci Identified in Genome-Wide Studies for Breast &Colo
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01CA132839-03
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Elucidating Loci Involved in Prostate Cancer Suceptibility
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U19CA148537-02
  • Funding stream: NATIONAL CANCER INSTITUTE
,
AKA| Search for novel genes in heritable predisposition to breast cancer
Project
  • Funder: Academy of Finland (AKA)
  • Project Code: 122715
34 references, page 1 of 3

1 Torre LA, Bray F, Siegel RL, Ferlay J, Lortet-Tieulent J, Jemal A. Global cancer statistics, 2012 CA Cancer J Clin. 2015;65: 87–108. 10.3322/caac.21262 [OpenAIRE] [DOI]

2 Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40: 17–22. 18163131 [PubMed]

3 Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res. 2010;70: 7353–7359. 10.1158/0008-5472.CAN-10-1012 20858716 [OpenAIRE] [PubMed] [DOI]

4 Suwaki N, Klare K, Tarsounas M. RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis. Semin Cell Dev Biol. 2011;22: 898–905. 10.1016/j.semcdb.2011.07.019 21821141 [OpenAIRE] [PubMed] [DOI]

5 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: 410–414. 10.1038/ng.569 20400964 [OpenAIRE] [PubMed] [DOI]

6 Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, et al Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011;43: 879–882. 10.1038/ng.893 21822267 [OpenAIRE] [PubMed] [DOI]

7 Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, et al Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet. 2012;44: 475–476. 10.1038/ng.2224 22538716 [PubMed] [DOI]

8 Vaz F, Hanenberg H, Schuster B, Barker K, Wiek C, Erven V, et al Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010;42: 406–409. 10.1038/ng.570 20400963 [OpenAIRE] [PubMed] [DOI]

9 Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012;49: 184–186. 10.1136/jmedgenet-2011-100585 22232082 [OpenAIRE] [PubMed] [DOI]

10 Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, et al Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet. 2012;90: 734–739. 10.1016/j.ajhg.2012.02.0 27 22464251 [OpenAIRE] [PubMed] [DOI]

11 Hilbers FS, Wijnen JT, Hoogerbrugge N, Oosterwijk JC, Collee MJ, Peterlongo P, et al Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet. 2012;49: 618–620. 10.1136/jmedgenet-2012-101191 23054243 [OpenAIRE] [PubMed] [DOI]

12 Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, Cox DG, et al A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009;41: 579–584. 10.1038/ng.353 19330030 [OpenAIRE] [PubMed] [DOI]

13 Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, et al Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet. 2012;44: 1182–1184. 10.1038/ng.2417.23001122 [OpenAIRE] [PubMed] [DOI]

14 Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, et al Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45: 353–361. 10.1038/ng.2563 23535729 [OpenAIRE] [PubMed] [DOI]

15 Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, et al Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9: e1003212 10.1371/journal.pgen.1003212 23544013 [OpenAIRE] [PubMed] [DOI]

34 references, page 1 of 3
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publication . Article . Other literature type . 2016

RAD51B in Familial Breast Cancer

Pelttari, Liisa M; Khan, Sofia; Vuorela, Mikko; Kiiski, Johanna I; Vilske, Sara; Nevanlinna, Viivi; Ranta, Salla; Schleutker, Johanna; Winqvist, Robert; Kallioniemi, Anne; ...