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Grant Details

Grant Number: 7R01CA074415-12 Interpret this number
Primary Investigator: Neuhausen, Susan
Organization: City Of Hope/Beckman Research Institute
Project Title: Genetic Epidemiology of Breast Cancer: BRCA1 and Brca2
Fiscal Year: 2007
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Abstract

DESCRIPTION (provided by applicant): Women who carry mutations in BRCA1 and BRCA2 (BRCA1/2) have a substantially increased risk of developing breast and ovarian cancers. There is considerable variability in age at diagnosis and relative incidence of breast and ovarian cancers, even among women with the same mutation, suggestive that additional risk factors modify the age-specific risk. We propose a comprehensive analysis of genes in the insulin-like growth factor (IGF) signaling pathway, a pathway integrally involved in cellular proliferation. We will use powerful new approaches that combine multiple linked variants in a single gene to form haplotypes and that allow evaluation of multiple genes in a single mechanistic pathway. We will utilize the resources of our multi-center cohort, which currently includes 2,000 Caucasian and 76 African-American BRCA1/2 female mutation carriers, and for which collection is ongoing. Few studies have been conducted in African Americans, even though they often have more aggressive breast cancer, present at a younger age, and have histopathology characteristic of BRCA1 tumors. Our overall objective is to identify genetic risk factors that modify breast cancer risk. Our specific aims are: Aim 1) to genotype Single Nucleotide Polymorphisms (SNPs) in IGF1, IGF1R, IGFBP1, IGFBP3, IRS1, and SHBG in 100 unrelated Caucasian and African Americans and identify haplotype blocks by linkage disequilibrium analysis. A subset of SNPs (haplotype-tagging SNPs and SNPs with known function) will be selected for Aim 3. Aim 2): to continue enrolling BRCAI/2 mutation carriers in order to expand our cohort. This includes extending previously enrolled families carrying mutations; continuing to enroll and screen African-American women with breast cancer and expanding families with deleterious mutations; and obtaining mutation carriers from our multi-center cohort. Aim 3: to genotype affected (cases) and unaffected (matched controls) BRCAI/2 mutation carriers for SNPs selected in Aim 1. Aim 4: to perform analyses to evaluate the role of the genotypes in breast cancer development, age at diagnosis and stage. Our focus is BRCA1/2 mutation carriers, who because of their higher risk of developing cancer at an early age, are the group for whom these results would be applied. This information can be used to assist women and their physicians in individual risk assessment, as well as to target women for specific prevention or treatment strategies based on their genetic risk factors.

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Publications

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
Authors: Gronwald J, Robidoux A, Kim-Sing C, Tung N, Lynch HT, Foulkes WD, Manoukian S, Ainsworth P, Neuhausen SL, Demsky R, Eisen A, Singer CF, Saal H, Senter L, Eng C, Weitzel J, Moller P, Gilchrist DM, Olopade O, Ginsburg O, Sun P, Huzarski T, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group
Source: Breast Cancer Res Treat, 2014 Jul;146(2), p. 421-7.
EPub date: 2014 Jun 21.
PMID: 24951267
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Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation.
Authors: Finch AP, Lubinski J, Mřller P, Singer CF, Karlan B, Senter L, Rosen B, Maehle L, Ghadirian P, Cybulski C, Huzarski T, Eisen A, Foulkes WD, Kim-Sing C, Ainsworth P, Tung N, Lynch HT, Neuhausen S, Metcalfe KA, Thompson I, Murphy J, Sun P, Narod SA
Source: J Clin Oncol, 2014 May 20;32(15), p. 1547-53.
EPub date: 2014 Feb 24.
PMID: 24567435
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Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study.
Authors: Phelan CM, Iqbal J, Lynch HT, Lubinski J, Gronwald J, Moller P, Ghadirian P, Foulkes WD, Armel S, Eisen A, Neuhausen SL, Senter L, Singer CF, Ainsworth P, Kim-Sing C, Tung N, Llacuachaqui M, Chornokur G, Ping S, Narod SA, Hereditary Breast Cancer Study Group
Source: Br J Cancer, 2014 Jan 21;110(2), p. 530-4.
EPub date: 2013 Nov 28.
PMID: 24292448
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Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.
Authors: Valentini A, Finch A, Lubinski J, Byrski T, Ghadirian P, Kim-Sing C, Lynch HT, Ainsworth PJ, Neuhausen SL, Greenblatt E, Singer C, Sun P, Narod SA
Source: J Clin Oncol, 2013 Nov 1;31(31), p. 3914-9.
EPub date: 2013 Aug 26.
PMID: 23980083
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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers.
Authors: Stevens KN, Wang X, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M, Swedish Breast Cancer Study, Sweden (SWE-BRCA), Nathanson KL, Jakubowska A, Osorio A, Hamann U, Godwin AK, Stoppa-Lyonnet D, Southey M, Buys SS, Singer CF, Hansen TV, Arason A, Offit K, Piedmonte M, Montagna M, Imyanitov E, Tihomirova L, Sucheston L, Beattie M, HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON), German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), Neuhausen SL, CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT Team), Szabo CI, kConFab, Simard J, Spurdle AB, Healey S, Chen X, Rebbeck TR, Easton DF, Chenevix-Trench G, Antoniou AC, Couch FJ
Source: Breast Cancer Res Treat, 2012 Nov;136(1), p. 295-302.
EPub date: 2012 Sep 26.
PMID: 23011509
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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
Authors: Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Z?owowcka-Per?owska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF, CIMBA, SWE-BRCA, HEBON, EMBRACE, GEMO Collaborators Study, kConFab Investigators
Source: Breast Cancer Res, 2012 Feb 20;14(1), p. R33.
EPub date: 2012 Feb 20.
PMID: 22348646
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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Authors: Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, SWE-BRCA, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Z?owocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB, HEBON, EMBRACE, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C, GEMO, Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S, Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M, Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle AB, kConFab, Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, OCGN, Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ, Chenevix-Trench G, Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Source: Hum Mutat, 2012 Apr;33(4), p. 690-702.
EPub date: 2012 Feb 14.
PMID: 22253144
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Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Authors: Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB, HEBON, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C, EMBRACE, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schönbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L, GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Cańadas C, Heikkinen T, Heikkilä P, Aittomäki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S, kConFab Investigators, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K, SWE-BRCA Collaborators, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC, Consortium of Investigators of Modifiers of BRCA1/2
Source: Cancer Epidemiol Biomarkers Prev, 2012 Jan;21(1), p. 134-47.
EPub date: 2011 Dec 5.
PMID: 22144499
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Authors: Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL, Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg Ĺ, Karlsson P, Askmalm MS, Bustinza GB, SWE-BRCA Collaborators, Nathanson KL, Domchek SM, Rebbeck TR, Benítez J, Hamann U, Rookus MA, van den Ouweland AM, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gille HJ, HEBON, EMBRACE, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Paterson J, Eason J, Godwin AK, Remon MA, Moncoutier V, Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger F, Bressac de Paillerets B, Caron O, Delnatte C, GEMO Study Collaborators, Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB, Breast Cancer Family Registry, Singer CF, Dressler AC, Tea MK, Hansen TV, Johannsson O, Piedmonte M, Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I, Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise R, Nevanlinna H, Chen X, Beesley J, Spurdle AB, Neuhausen SL, Ding YC, Couch FJ, Wang X, Peterlongo P, Manoukian S, Bernard L, Radice P, Easton DF, Chenevix-Trench G, Antoniou AC, Stoppa-Lyonnet D, Mazoyer S, Sinilnikova OM, Consortium of Investigators of Modifiers of BRCA1/2
Source: Hum Mol Genet, 2011 Dec 1;20(23), p. 4732-47.
EPub date: 2011 Sep 2.
PMID: 21890493
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Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes.
Authors: Rebbeck TR, Mitra N, Domchek SM, Wan F, Friebel TM, Tran TV, Singer CF, Tea MK, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder CL, Garber JE, Antoniou AC, Peock S, Evans DG, Paterson J, Kennedy MJ, Donaldson A, Dorkins H, Easton DF, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE), Rubinstein WS, Daly MB, Isaacs C, Nevanlinna H, Couch FJ, Andrulis IL, Freidman E, Laitman Y, Ganz PA, Tomlinson GE, Neuhausen SL, Narod SA, Phelan CM, Greenberg R, Nathanson KL
Source: Cancer Res, 2011 Sep 1;71(17), p. 5792-805.
EPub date: 2011 Jul 28.
PMID: 21799032
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Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers.
Authors: Neuhausen SL, Brummel S, Ding YC, Steele L, Nathanson KL, Domchek S, Rebbeck TR, Singer CF, Pfeiler G, Lynch HT, Garber JE, Couch F, Weitzel JN, Godwin A, Narod SA, Ganz PA, Daly MB, Isaacs C, Olopade OI, Tomlinson GE, Rubinstein WS, Tung N, Blum JL, Gillen DL
Source: Cancer Epidemiol Biomarkers Prev, 2011 Aug;20(8), p. 1690-702.
EPub date: 2011 Jun 27.
PMID: 21708937
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Authors: Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B, SWE-BRCA, Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB, HEBON, Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z, EMBRACE, Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I, Frénay M, CEMO Study Collaborators, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D, Breast Cancer Family Registry, Singer CF, Tea MK, Pfeiler G, Dressler AC, Hansen Tv, Jřnson L, Ejlertsen B, Barkardottir RB, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess J, Blank S, Basil J, Azodi M, Toland AE, Montagna M, Tognazzo S, Agata S, Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ, Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I, Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D, Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M, Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB, kConFab investigators, Neuhausen SL, Chun Ding Y, Fredericksen Z, Wang X, Pankratz VS, Couch F, Simard J, Easton DF, Chenevix-Trench G, CIMBA
Source: Hum Mol Genet, 2011 Aug 15;20(16), p. 3304-21.
EPub date: 2011 May 18.
PMID: 21593217
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Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.
Authors: Spurdle AB, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X, Beesley J, Singer CF, Dressler AC, Gschwantler-Kaulich D, Blum JL, Tung N, Weitzel J, Lynch H, Garber J, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Conroy D, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Selkirk CG, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova OM, Buecher B, Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P, Collonge-Rame MA, GEMO Study Collaborators, Rookus MA, Verhoef S, Kriege M, Hoogerbrugge N, Ausems MG, van Os TA, Wijnen J, Devilee P, Meijers-Heijboer HE, Blok MJ, Heikkinen T, Nevanlinna H, Jakubowska A, Lubinski J, Huzarski T, Byrski T, Durocher F, Couch FJ, Lindor NM, Wang X, Thomassen M, Domchek S, Nathanson K, Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P, SWE-BRCA, Ganz PA, Olopade OI, Tomlinson G, Neuhausen S, Antoniou AC, Chenevix-Trench G, Rebbeck TR
Source: Cancer Epidemiol Biomarkers Prev, 2011 May;20(5), p. 1032-8.
EPub date: 2011 Mar 10.
PMID: 21393566
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.
Authors: Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J, Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A, Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon G, Ozcelik H, OCGN, Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P, Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM, Jakubowska A, Lubi?ski J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C, D?bniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen CJ, Blok MJ, Meijers-Heijboer HE, HEBON, EMBRACE, Peock S, Cook M, Oliver C, Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C, Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H, Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L, Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F, Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S, GEMO Study Collaborators, Miron A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D, BCFR, Hansen Tv, Jřnson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I, Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R, Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Simard J, Soucy P, kConFab Investigators, Spurdle AB, Holland H, Chenevix-Trench G, Easton DF, Antoniou AC, Consortium of Investigators of Modifiers of BRCA1/2
Source: J Natl Cancer Inst, 2011 Jan 19;103(2), p. 105-16.
EPub date: 2010 Dec 17.
PMID: 21169536
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
Authors: Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL, Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B, SWE-BRCA, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M, HEBON, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S, EMBRACE, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L, GEMO, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L, GEMO, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D, Breast Cancer Family Registry, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV, Jřnson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X, kConFab, Platte R, Chenevix-Trench G, Easton DF, CIMBA
Source: Cancer Res, 2010 Dec 1;70(23), p. 9742-54.
EPub date: 2010 Nov 30.
PMID: 21118973
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Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers.
Authors: Domchek SM, Friebel TM, Garber JE, Isaacs C, Matloff E, Eeles R, Evans DG, Rubinstein W, Singer CF, Rubin S, Lynch HT, Daly MB, Weitzel J, Ganz PA, Pichert G, Olopade OI, Tomlinson G, Tung N, Blum JL, Couch F, Rebbeck TR
Source: Breast Cancer Res Treat, 2010 Nov;124(1), p. 195-203.
EPub date: 2010 Feb 24.
PMID: 20180014
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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Authors: Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J, Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S, KConFab, Neuhausen SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G, Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N, OCGN, Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y, Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS, Arver B, Malmer B, SWE-BRCA, Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal T, Yannoukakos D, Hamann U, HEBON, Hogervorst FB, Verhoef S, Gómez García EB, Wijnen JT, van den Ouweland A, EMBRACE, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S, Morrison PJ, Douglas F, Godwin AK, GEMO, Sinilnikova OM, Barjhoux L, Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL, Terry MB, Miron A, Yassin Y, Goldgar D, Breast Cancer Family Registry, Singer CF, Gschwantler-Kaulich D, Pfeiler G, Spiess AC, Hansen TV, Johannsson OT, Kirchhoff T, Offit K, Kosarin K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Deissler H, Fiebig B, Varon-Mateeva R, Schaefer D, Froster UG, Caldes T, de la Hoya M, McGuffog L, Antoniou AC, Nevanlinna H, Radice P, Benítez J, CMBA
Source: Br J Cancer, 2009 Dec 15;101(12), p. 2048-54.
EPub date: 2009 Nov 17.
PMID: 19920816
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The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers.
Authors: Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Lubinski J
Source: Breast Cancer Res Treat, 2010 Jun;121(3), p. 639-49.
EPub date: 2009 Oct 30.
PMID: 19876733
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Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
Authors: Neuhausen SL, Brummel S, Ding YC, Singer CF, Pfeiler G, Lynch HT, Nathanson KL, Rebbeck TR, Garber JE, Couch F, Weitzel J, Narod SA, Ganz PA, Daly MB, Godwin AK, Isaacs C, Olopade OI, Tomlinson G, Rubinstein WS, Tung N, Blum JL, Gillen DL
Source: Breast Cancer Res, 2009;11(5), p. R76.
PMID: 19843326
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