RAD51B in Familial Breast Cancer
Publication Date
May 05, 2016
Journal
PLOS ONE
Authors
Liisa M. Pelttari, Sofia Khan, Mikko Vuorela, Johanna I. Kiiski, et al
Volume
11
Issue
5
Pages
e0153788
DOI
https://dx.plos.org/10.1371/journal.pone.0153788
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0153788
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/27149063
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858276
Europe PMC
http://europepmc.org/abstract/MED/27149063
Scopus
85023753787
Mendeley
http://www.mendeley.com/research/rad51b-familial-breast-cancer-2
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F.", "last_name"=>"Ng", "scopus_author_id"=>"36719756500"}, {"first_name"=>"R.", "last_name"=>"Blum", "scopus_author_id"=>"57190607963"}, {"first_name"=>"V.", "last_name"=>"Ganju", "scopus_author_id"=>"6602568241"}, {"first_name"=>"I.", "last_name"=>"Hammond", "scopus_author_id"=>"7004849540"}, {"first_name"=>"Y.", "last_name"=>"Leung", "scopus_author_id"=>"7201463926"}, {"first_name"=>"A.", "last_name"=>"McCartney", "scopus_author_id"=>"7004310422"}, {"first_name"=>"C.", "last_name"=>"Stewart", "scopus_author_id"=>"55572150400"}, {"first_name"=>"N.", "last_name"=>"Zeps", "scopus_author_id"=>"57200842780"}], "year"=>2016, "source"=>"PLoS ONE", "identifiers"=>{"scopus"=>"2-s2.0-85023753787", "sgr"=>"85023753787", "issn"=>"19326203", "doi"=>"10.1371/journal.pone.0153788", "pmid"=>"27149063", "pui"=>"617227925"}, "id"=>"d8f7fcb9-66a2-34cc-b7fb-c05696d29c79", "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 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.", "link"=>"http://www.mendeley.com/research/rad51b-familial-breast-cancer-2", "reader_count"=>15, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Librarian"=>2, "Researcher"=>3, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>4, "Other"=>1, "Student > Master"=>1, "Student > Bachelor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Librarian"=>2, "Researcher"=>3, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>4, "Other"=>1, "Student > Master"=>1, "Student > Bachelor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>4, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>4, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>1}}, "reader_count_by_country"=>{"United States"=>2, "Finland"=>1}, "group_count"=>2}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/5146243"], "description"=>"<p>Variants identified in the screening of the <i>RAD51B</i> gene (RefSeq NM_133509.3).</p>", "links"=>[], "tags"=>["RAD 51B haplotypes", "RAD 51B", "breast cancer risk", "missense mutation c .541C", "Finnish cancer patients", "rs 1314913 SNPs", "breast cancer cases", "RAD 51B region", "breast cancer", "BCAC dataset", "Familial Breast Cancer Common variation", "rs 1314913", "CI", "breast cancer patients", "breast cancer predisposition", "RAD 51B variants", "Breast Cancer Association Consortium"], "article_id"=>3307984, "categories"=>["Medicine", "Genetics", "Environmental Sciences not elsewhere classified", "Biological Sciences not elsewhere classified", "Mathematical Sciences not elsewhere classified", "Cancer", "Plant Biology"], "users"=>["Liisa M. Pelttari", "Sofia Khan", "Mikko Vuorela", "Johanna I. Kiiski", "Sara Vilske", "Viivi Nevanlinna", "Salla Ranta", "Johanna Schleutker", "Robert Winqvist", "Anne Kallioniemi", "Thilo Dörk", "Natalia V. Bogdanova", "Jonine Figueroa", "Paul D. P. Pharoah", "Marjanka K. Schmidt", "Alison M. Dunning", "Montserrat García-Closas", "Manjeet K. Bolla", "Joe Dennis", "Kyriaki Michailidou", "Qin Wang", "John L. Hopper", "Melissa C. Southey", "Efraim H. Rosenberg", "Peter A. Fasching", "Matthias W. Beckmann", "Julian Peto", "Isabel dos-Santos-Silva", "Elinor J. Sawyer", "Ian Tomlinson", "Barbara Burwinkel", "Harald Surowy", "Pascal Guénel", "Thérèse Truong", "Stig E. Bojesen", "Børge G. Nordestgaard", "Javier Benitez", "Anna González-Neira", "Susan L. Neuhausen", "Hoda Anton-Culver", "Hermann Brenner", "Volker Arndt", "Alfons Meindl", "Rita K. Schmutzler", "Hiltrud Brauch", "Thomas Brüning", "Annika Lindblom", "Sara Margolin", "Arto Mannermaa", "Jaana M. Hartikainen", "Georgia Chenevix-Trench", "Laurien Van Dyck", "Hilde Janssen", "Jenny Chang-Claude", "Anja Rudolph", "Paolo Radice", "Paolo Peterlongo", "Emily Hallberg", "Janet E. Olson", "Graham G. Giles", "Roger L. Milne", "Christopher A. Haiman", "Fredrick Schumacher", "Jacques Simard", "Martine Dumont", "Vessela Kristensen", "Anne-Lise Borresen-Dale", "Wei Zheng", "Alicia Beeghly-Fadiel", "Mervi Grip", "Irene L. Andrulis", "Gord Glendon", "Peter Devilee", "Caroline Seynaeve", "Maartje J. Hooning", "Margriet Collée", "Angela Cox", "Simon S. Cross", "Mitul Shah", "Robert N. Luben", "Ute Hamann", "Diana Torres", "Anna Jakubowska", "Jan Lubinski", "Fergus J. Couch", "Drakoulis Yannoukakos", "Nick Orr", "Anthony Swerdlow", "Hatef Darabi", "Jingmei Li", "Kamila Czene", "Per Hall", "Douglas F. Easton", "Johanna Mattson", "Carl Blomqvist", "Kristiina Aittomäki", "Heli Nevanlinna"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0153788.t001", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Variants_identified_in_the_screening_of_the_i_RAD51B_i_gene_RefSeq_NM_133509_3_/3307984", "title"=>"Variants identified in the screening of the <i>RAD51B</i> gene (RefSeq NM_133509.3).", "pos_in_sequence"=>2, "defined_type"=>3, "published_date"=>"2016-05-05 07:53:44"}
  • {"files"=>["https://ndownloader.figshare.com/files/5146285"], "description"=>"<p>Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series.</p>", "links"=>[], "tags"=>["RAD 51B haplotypes", "RAD 51B", "breast cancer risk", "missense mutation c .541C", "Finnish cancer patients", "rs 1314913 SNPs", "breast cancer cases", "RAD 51B region", "breast cancer", "BCAC dataset", "Familial Breast Cancer Common variation", "rs 1314913", "CI", "breast cancer patients", "breast cancer predisposition", "RAD 51B variants", "Breast Cancer Association Consortium"], "article_id"=>3308008, "categories"=>["Medicine", "Genetics", "Environmental Sciences not elsewhere classified", "Biological Sciences not elsewhere classified", "Mathematical Sciences not elsewhere classified", "Cancer", "Plant Biology"], "users"=>["Liisa M. Pelttari", "Sofia Khan", "Mikko Vuorela", "Johanna I. Kiiski", "Sara Vilske", "Viivi Nevanlinna", "Salla Ranta", "Johanna Schleutker", "Robert Winqvist", "Anne Kallioniemi", "Thilo Dörk", "Natalia V. Bogdanova", "Jonine Figueroa", "Paul D. P. Pharoah", "Marjanka K. Schmidt", "Alison M. Dunning", "Montserrat García-Closas", "Manjeet K. Bolla", "Joe Dennis", "Kyriaki Michailidou", "Qin Wang", "John L. Hopper", "Melissa C. Southey", "Efraim H. Rosenberg", "Peter A. Fasching", "Matthias W. Beckmann", "Julian Peto", "Isabel dos-Santos-Silva", "Elinor J. Sawyer", "Ian Tomlinson", "Barbara Burwinkel", "Harald Surowy", "Pascal Guénel", "Thérèse Truong", "Stig E. Bojesen", "Børge G. Nordestgaard", "Javier Benitez", "Anna González-Neira", "Susan L. Neuhausen", "Hoda Anton-Culver", "Hermann Brenner", "Volker Arndt", "Alfons Meindl", "Rita K. Schmutzler", "Hiltrud Brauch", "Thomas Brüning", "Annika Lindblom", "Sara Margolin", "Arto Mannermaa", "Jaana M. Hartikainen", "Georgia Chenevix-Trench", "Laurien Van Dyck", "Hilde Janssen", "Jenny Chang-Claude", "Anja Rudolph", "Paolo Radice", "Paolo Peterlongo", "Emily Hallberg", "Janet E. Olson", "Graham G. Giles", "Roger L. Milne", "Christopher A. Haiman", "Fredrick Schumacher", "Jacques Simard", "Martine Dumont", "Vessela Kristensen", "Anne-Lise Borresen-Dale", "Wei Zheng", "Alicia Beeghly-Fadiel", "Mervi Grip", "Irene L. Andrulis", "Gord Glendon", "Peter Devilee", "Caroline Seynaeve", "Maartje J. Hooning", "Margriet Collée", "Angela Cox", "Simon S. Cross", "Mitul Shah", "Robert N. Luben", "Ute Hamann", "Diana Torres", "Anna Jakubowska", "Jan Lubinski", "Fergus J. Couch", "Drakoulis Yannoukakos", "Nick Orr", "Anthony Swerdlow", "Hatef Darabi", "Jingmei Li", "Kamila Czene", "Per Hall", "Douglas F. Easton", "Johanna Mattson", "Carl Blomqvist", "Kristiina Aittomäki", "Heli Nevanlinna"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0153788.t002", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Frequencies_and_ORs_for_the_c_541C_T_mutation_among_the_different_patient_subgroups_in_the_Helsinki_Tampere_Oulu_and_Belarus_series_/3308008", "title"=>"Frequencies and ORs for the c.541C>T mutation among the different patient subgroups in the Helsinki, Tampere, Oulu, and Belarus series.", "pos_in_sequence"=>3, "defined_type"=>3, "published_date"=>"2016-05-05 07:53:44"}
  • {"files"=>["https://ndownloader.figshare.com/files/5146393"], "description"=>"<p>The haplotypes are based on genotypes for SNPs rs2588809, rs1314913, and rs999737.</p>", "links"=>[], "tags"=>["RAD 51B haplotypes", "RAD 51B", "breast cancer risk", "missense mutation c .541C", "Finnish cancer patients", "rs 1314913 SNPs", "breast cancer cases", "RAD 51B region", "breast cancer", "BCAC dataset", "Familial Breast Cancer Common variation", "rs 1314913", "CI", "breast cancer patients", "breast cancer predisposition", "RAD 51B variants", "Breast Cancer Association Consortium"], "article_id"=>3308059, "categories"=>["Medicine", "Genetics", "Environmental Sciences not elsewhere classified", "Biological Sciences not elsewhere classified", "Mathematical Sciences not elsewhere classified", "Cancer", "Plant Biology"], "users"=>["Liisa M. Pelttari", "Sofia Khan", "Mikko Vuorela", "Johanna I. Kiiski", "Sara Vilske", "Viivi Nevanlinna", "Salla Ranta", "Johanna Schleutker", "Robert Winqvist", "Anne Kallioniemi", "Thilo Dörk", "Natalia V. Bogdanova", "Jonine Figueroa", "Paul D. P. Pharoah", "Marjanka K. Schmidt", "Alison M. Dunning", "Montserrat García-Closas", "Manjeet K. Bolla", "Joe Dennis", "Kyriaki Michailidou", "Qin Wang", "John L. Hopper", "Melissa C. Southey", "Efraim H. Rosenberg", "Peter A. Fasching", "Matthias W. Beckmann", "Julian Peto", "Isabel dos-Santos-Silva", "Elinor J. Sawyer", "Ian Tomlinson", "Barbara Burwinkel", "Harald Surowy", "Pascal Guénel", "Thérèse Truong", "Stig E. Bojesen", "Børge G. Nordestgaard", "Javier Benitez", "Anna González-Neira", "Susan L. Neuhausen", "Hoda Anton-Culver", "Hermann Brenner", "Volker Arndt", "Alfons Meindl", "Rita K. Schmutzler", "Hiltrud Brauch", "Thomas Brüning", "Annika Lindblom", "Sara Margolin", "Arto Mannermaa", "Jaana M. Hartikainen", "Georgia Chenevix-Trench", "Laurien Van Dyck", "Hilde Janssen", "Jenny Chang-Claude", "Anja Rudolph", "Paolo Radice", "Paolo Peterlongo", "Emily Hallberg", "Janet E. Olson", "Graham G. Giles", "Roger L. Milne", "Christopher A. Haiman", "Fredrick Schumacher", "Jacques Simard", "Martine Dumont", "Vessela Kristensen", "Anne-Lise Borresen-Dale", "Wei Zheng", "Alicia Beeghly-Fadiel", "Mervi Grip", "Irene L. Andrulis", "Gord Glendon", "Peter Devilee", "Caroline Seynaeve", "Maartje J. Hooning", "Margriet Collée", "Angela Cox", "Simon S. Cross", "Mitul Shah", "Robert N. Luben", "Ute Hamann", "Diana Torres", "Anna Jakubowska", "Jan Lubinski", "Fergus J. Couch", "Drakoulis Yannoukakos", "Nick Orr", "Anthony Swerdlow", "Hatef Darabi", "Jingmei Li", "Kamila Czene", "Per Hall", "Douglas F. Easton", "Johanna Mattson", "Carl Blomqvist", "Kristiina Aittomäki", "Heli Nevanlinna"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0153788.t004", "stats"=>{"downloads"=>0, "page_views"=>1, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Estimated_haplotype_frequencies_and_haplotype-specific_ORs_among_the_BCAC_dataset_/3308059", "title"=>"Estimated haplotype frequencies and haplotype-specific ORs among the BCAC dataset.", "pos_in_sequence"=>5, "defined_type"=>3, "published_date"=>"2016-05-05 07:53:44"}
  • {"files"=>["https://ndownloader.figshare.com/files/5146177", "https://ndownloader.figshare.com/files/5146192", "https://ndownloader.figshare.com/files/5146198", "https://ndownloader.figshare.com/files/5146204", "https://ndownloader.figshare.com/files/5146213"], "description"=>"<div><p>Common variation on 14q24.1, close to <i>RAD51B</i>, 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 <i>RAD51B</i> variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of <i>RAD51B</i> 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 <i>RAD51B</i> haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, <i>P</i> = 8.88 x 10<sup>−16</sup>) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, <i>P</i> = 6.19 x 10<sup>−11</sup>), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in <i>RAD51B</i> are rare, but common variation at the <i>RAD51B</i> region is significantly associated with familial breast cancer risk.</p></div>", "links"=>[], "tags"=>["RAD 51B haplotypes", "RAD 51B", "breast cancer risk", "missense mutation c .541C", "Finnish cancer patients", "rs 1314913 SNPs", "breast cancer cases", "RAD 51B region", "breast cancer", "BCAC dataset", "Familial Breast Cancer Common variation", "rs 1314913", "CI", "breast cancer patients", "breast cancer predisposition", "RAD 51B variants", "Breast Cancer Association Consortium"], "article_id"=>3307933, "categories"=>["Medicine", "Genetics", "Environmental Sciences not elsewhere classified", "Biological Sciences not elsewhere classified", "Mathematical Sciences not elsewhere classified", "Cancer", "Plant Biology"], "users"=>["Liisa M. Pelttari", "Sofia Khan", "Mikko Vuorela", "Johanna I. Kiiski", "Sara Vilske", "Viivi Nevanlinna", "Salla Ranta", "Johanna Schleutker", "Robert Winqvist", "Anne Kallioniemi", "Thilo Dörk", "Natalia V. Bogdanova", "Jonine Figueroa", "Paul D. P. Pharoah", "Marjanka K. Schmidt", "Alison M. Dunning", "Montserrat García-Closas", "Manjeet K. Bolla", "Joe Dennis", "Kyriaki Michailidou", "Qin Wang", "John L. Hopper", "Melissa C. Southey", "Efraim H. Rosenberg", "Peter A. Fasching", "Matthias W. Beckmann", "Julian Peto", "Isabel dos-Santos-Silva", "Elinor J. Sawyer", "Ian Tomlinson", "Barbara Burwinkel", "Harald Surowy", "Pascal Guénel", "Thérèse Truong", "Stig E. Bojesen", "Børge G. Nordestgaard", "Javier Benitez", "Anna González-Neira", "Susan L. Neuhausen", "Hoda Anton-Culver", "Hermann Brenner", "Volker Arndt", "Alfons Meindl", "Rita K. Schmutzler", "Hiltrud Brauch", "Thomas Brüning", "Annika Lindblom", "Sara Margolin", "Arto Mannermaa", "Jaana M. Hartikainen", "Georgia Chenevix-Trench", "Laurien Van Dyck", "Hilde Janssen", "Jenny Chang-Claude", "Anja Rudolph", "Paolo Radice", "Paolo Peterlongo", "Emily Hallberg", "Janet E. Olson", "Graham G. Giles", "Roger L. Milne", "Christopher A. Haiman", "Fredrick Schumacher", "Jacques Simard", "Martine Dumont", "Vessela Kristensen", "Anne-Lise Borresen-Dale", "Wei Zheng", "Alicia Beeghly-Fadiel", "Mervi Grip", "Irene L. Andrulis", "Gord Glendon", "Peter Devilee", "Caroline Seynaeve", "Maartje J. Hooning", "Margriet Collée", "Angela Cox", "Simon S. Cross", "Mitul Shah", "Robert N. Luben", "Ute Hamann", "Diana Torres", "Anna Jakubowska", "Jan Lubinski", "Fergus J. Couch", "Drakoulis Yannoukakos", "Nick Orr", "Anthony Swerdlow", "Hatef Darabi", "Jingmei Li", "Kamila Czene", "Per Hall", "Douglas F. Easton", "Johanna Mattson", "Carl Blomqvist", "Kristiina Aittomäki", "Heli Nevanlinna"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0153788.s001", "https://dx.doi.org/10.1371/journal.pone.0153788.s002", "https://dx.doi.org/10.1371/journal.pone.0153788.s003", "https://dx.doi.org/10.1371/journal.pone.0153788.s004", "https://dx.doi.org/10.1371/journal.pone.0153788.s005"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_i_RAD51B_i_in_Familial_Breast_Cancer/3307933", "title"=>"<i>RAD51B</i> in Familial Breast Cancer", "pos_in_sequence"=>1, "defined_type"=>4, "published_date"=>"2016-05-05 07:53:44"}
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PMC Usage Stats | Further Information

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Relative Metric

{"start_date"=>"2016-01-01T00:00:00Z", "end_date"=>"2016-12-31T00:00:00Z", "subject_areas"=>[]}
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