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Grant Details

Grant Number: 5R01CA176785-05 Interpret this number
Primary Investigator: Couch, Fergus
Organization: Mayo Clinic Rochester
Project Title: Identifying and Validating Novel Susceptibility Genes for Breast Cancer
Fiscal Year: 2018
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Abstract

DESCRIPTION (provided by applicant): Breast cancer is one of the most common cancers in the US with approximately 227,000 new cases of invasive breast cancer and 40,000 breast cancer deaths predicted in 2012. Breast cancer has a strong heritable component with approximately 15% to 20% of cases exhibiting a family history of the disease. Susceptibility to breast cancer is associated with rare germline variants in high-risk genes such as BRCA1 and BRCA2, several intermediate-risk (3 to 5 fold) predisposition genes such as PALB2 and CHEK2, and many common genetic variants associated with modest (<1.5 fold) increased risk of disease. Currently, high-risk genes and intermediate risk genes are used for clinical genetic testing for breast cancer susceptibility and for clinical management of individuals with a family history of breast cancer. However, the known predisposing variants account for less than 50% of all familial breast cancer cases. Thus, many individuals with a family history of breast cancer cannot benefit from informative clinical genetic testing and enhanced cancer risk assessment and management. Although non-genetic factors and additional common genetic variants also may influence breast cancer risk, it is unlikely that these additional factors account for all of te missing heritability of breast cancer. Thus, we hypothesize that a significant amount of the unexplained familial risk of breast cancer is due to rare genetic variants that are associated with intermediate-to-high risk. Herein, we propose to identify and characterize novel breast cancer susceptibility genes using a comprehensive sequence-based approach. We have already completed whole exome sequencing of multiple germline DNA samples from 200 high-risk breast cancer families and now propose to leverage the results from these exome sequencing studies to establish the contribution of candidate variants and genes to breast cancer. In Aim 1, we will validate 400 candidate genes in a case-control study of 4,000 familial breast cancer cases and 4,000 unaffected controls. In Aim 2 we will take a different approach to the identification of breast cancer risk factors by evaluating associations between rare recurring protein-coding variants and breast cancer risk. We will use a large case-control study of 8,000 breast cancer cases and 8,000 matched unaffected controls to validate candidates. Finally, in Aim 3 we will conduct functional studies of the candidate genes and variants from Aims 1 and 2 in order to improve prediction of pathogenic and non-pathogenic variants for the validation studies and to understand the signaling mechanisms associated with predisposition to breast cancer. The research team involved in this project has access to large, well annotated patient resources, has an established background in this research, is leveraging extensive preliminary data, and has the ability to utilize the findings for the benefit of breast cancer patients. Thus, his team is well positioned to account for much of the "missing heritability" of breast cancer.

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Publications

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Authors: Hart S.N. , Hoskin T. , Shimelis H. , Moore R.M. , Feng B. , Thomas A. , Lindor N.M. , Polley E.C. , Goldgar D.E. , Iversen E. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2018-06-08 00:00:00.0; , .
EPub date: 2018-06-08 00:00:00.0.
PMID: 29884841
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Authors: Rebbeck T.R. , Friebel T.M. , Friedman E. , Hamann U. , Huo D. , Kwong A. , Olah E. , Olopade O.I. , Solano A.R. , Teo S.H. , et al. .
Source: Human Mutation, 2018 May; 39(5), p. 593-620.
EPub date: 2018-03-12 00:00:00.0.
PMID: 29446198
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E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.
Authors: Horne H.N. , Oh H. , Sherman M.E. , Palakal M. , Hewitt S.M. , Schmidt M.K. , Milne R.L. , Hardisson D. , Benitez J. , Blomqvist C. , et al. .
Source: Scientific Reports, 2018-04-26 00:00:00.0; 8(1), p. 6574.
EPub date: 2018-04-26 00:00:00.0.
PMID: 29700408
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Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.
Authors: Lilyquist J. , Ruddy K.J. , Vachon C.M. , Couch F.J. .
Source: Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology, 2018 Apr; 27(4), p. 380-394.
EPub date: 2018-01-30 00:00:00.0.
PMID: 29382703
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Authors: Milne R.L. , Kuchenbaecker K.B. , Michailidou K. , Beesley J. , Kar S. , Lindström S. , Hui S. , Lemaçon A. , Soucy P. , Dennis J. , et al. .
Source: Nature Genetics, 2017 Dec; 49(12), p. 1767-1778.
EPub date: 2017-10-23 00:00:00.0.
PMID: 29058716
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Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Authors: Brouckaert O. , Rudolph A. , Laenen A. , Keeman R. , Bolla M.K. , Wang Q. , Soubry A. , Wildiers H. , Andrulis I.L. , Arndt V. , et al. .
Source: Breast Cancer Research : Bcr, 2017-11-07 00:00:00.0; 19(1), p. 119.
EPub date: 2017-11-07 00:00:00.0.
PMID: 29116004
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Association analysis identifies 65 new breast cancer risk loci.
Authors: Michailidou K. , Lindström S. , Dennis J. , Beesley J. , Hui S. , Kar S. , Lemaçon A. , Soucy P. , Glubb D. , Rostamianfar A. , et al. .
Source: Nature, 2017-11-02 00:00:00.0; 551(7678), p. 92-94.
EPub date: 2017-10-23 00:00:00.0.
PMID: 29059683
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Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
Authors: Barrdahl M. , Rudolph A. , Hopper J.L. , Southey M.C. , Broeks A. , Fasching P.A. , Beckmann M.W. , Gago-Dominguez M. , Castelao J.E. , Guénel P. , et al. .
Source: International Journal Of Cancer, 2017-11-01 00:00:00.0; 141(9), p. 1830-1840.
EPub date: 2017-08-11 00:00:00.0.
PMID: 28670784
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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
Authors: Lecarpentier J. , Silvestri V. , Kuchenbaecker K.B. , Barrowdale D. , Dennis J. , McGuffog L. , Soucy P. , Leslie G. , Rizzolo P. , Navazio A.S. , et al. .
Source: Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology, 2017-07-10 00:00:00.0; 35(20), p. 2240-2250.
EPub date: 2017-04-27 00:00:00.0.
PMID: 28448241
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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
Authors: Kuchenbaecker K.B. , McGuffog L. , Barrowdale D. , Lee A. , Soucy P. , Dennis J. , Domchek S.M. , Robson M. , Spurdle A.B. , Ramus S.J. , et al. .
Source: Journal Of The National Cancer Institute, 2017-07-01 00:00:00.0; 109(7), .
PMID: 28376175
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Authors: Phelan C.M. , Kuchenbaecker K.B. , Tyrer J.P. , Kar S.P. , Lawrenson K. , Winham S.J. , Dennis J. , Pirie A. , Riggan M.J. , Chornokur G. , et al. .
Source: Nature Genetics, 2017 May; 49(5), p. 680-691.
EPub date: 2017-03-27 00:00:00.0.
PMID: 28346442
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Evaluation Of Copy-number Variants As Modifiers Of Breast And Ovarian Cancer Risk For Brca1 Pathogenic Variant Carriers
Authors: Walker L.C. , Marquart L. , Pearson J.F. , Wiggins G.A. , O'Mara T.A. , Parsons M.T. , BCFR , Barrowdale D. , McGuffog L. , Dennis J. , et al. .
Source: European Journal Of Human Genetics : Ejhg, 2017 Apr; 25(4), p. 432-438.
PMID: 28145423
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TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
Authors: Fagerholm R. , Khan S. , Schmidt M.K. , García-Closas M. , Heikkilä P. , Saarela J. , Beesley J. , Jamshidi M. , Aittomäki K. , Liu J. , et al. .
Source: Oncotarget, 2017-03-14 00:00:00.0; 8(11), p. 18381-18398.
PMID: 28179588
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Brca2 Hypomorphic Missense Variants Confer Moderate Risks Of Breast Cancer
Authors: Shimelis H. , Mesman R.L. , Von Nicolai C. , Ehlen A. , Guidugli L. , Martin C. , Calleja F.M. , Meeks H. , Hallberg E. , Hinton J. , et al. .
Source: Cancer Research, 2017-03-10 00:00:00.0; , .
PMID: 28283652
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The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
Authors: Slavin T.P. , Maxwell K.N. , Lilyquist J. , Vijai J. , Neuhausen S.L. , Hart S.N. , Ravichandran V. , Thomas T. , Maria A. , Villano D. , et al. .
Source: Npj Breast Cancer, 2017; 3, p. 22.
EPub date: 2017-06-09 00:00:00.0.
PMID: 28649662
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Male Breast Cancer In A Multi-gene Panel Testing Cohort: Insights And Unexpected Results
Authors: Pritzlaff M. , Summerour P. , McFarland R. , Li S. , Reineke P. , Dolinsky J.S. , Goldgar D.E. , Shimelis H. , Couch F.J. , Chao E.C. , et al. .
Source: Breast Cancer Research And Treatment, 2016-12-22 00:00:00.0; , .
PMID: 28008555
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Association Of Breast Cancer Risk With Genetic Variants Showing Differential Allelic Expression: Identification Of A Novel Breast Cancer Susceptibility Locus At 4q21
Authors: Hamdi Y. , Soucy P. , Adoue V. , Michailidou K. , Canisius S. , Lemaçon A. , Droit A. , Andrulis I.L. , Anton-Culver H. , Arndt V. , et al. .
Source: Oncotarget, 2016-12-06 00:00:00.0; 7(49), p. 80140-80163.
PMID: 27792995
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Mammographic Texture And Risk Of Breast Cancer By Tumor Type And Estrogen Receptor Status
Authors: Malkov S. , Shepherd J.A. , Scott C.G. , Tamimi R.M. , Ma L. , Bertrand K.A. , Couch F. , Jensen M.R. , Mahmoudzadeh A.P. , Fan B. , et al. .
Source: Breast Cancer Research : Bcr, 2016-12-06 00:00:00.0; 18(1), p. 122.
PMID: 27923387
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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Authors: Southey M.C. , Goldgar D.E. , Winqvist R. , Pylkäs K. , Couch F. , Tischkowitz M. , Foulkes W.D. , Dennis J. , Michailidou K. , van Rensburg E.J. , et al. .
Source: Journal Of Medical Genetics, 2016 Dec; 53(12), p. 800-811.
PMID: 27595995
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Rs2735383, Located At A Microrna Binding Site In The 3'utr Of Nbs1, Is Not Associated With Breast Cancer Risk
Authors: Liu J. , Lon¿ar I. , Collée J.M. , Bolla M.K. , Dennis J. , Michailidou K. , Wang Q. , Andrulis I.L. , Barile M. , Beckmann M.W. , et al. .
Source: Scientific Reports, 2016-11-15 00:00:00.0; 6, p. 36874.
PMID: 27845421
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Inheritance Of Deleterious Mutations At Both Brca1 And Brca2 In An International Sample Of 32,295 Women
Authors: Rebbeck T.R. , Friebel T.M. , Mitra N. , Wan F. , Chen S. , Andrulis I.L. , Apostolou P. , Arnold N. , Arun B.K. , Barrowdale D. , et al. .
Source: Breast Cancer Research : Bcr, 2016-11-11 00:00:00.0; 18(1), p. 112.
PMID: 27836010
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The Palb2 P.leu939trp Mutation Is Not Associated With Breast Cancer Risk
Authors: Catucci I. , Radice P. , Milne R.L. , Couch F.J. , Southey M.C. , Peterlongo P. .
Source: Breast Cancer Research : Bcr, 2016-11-09 00:00:00.0; 18(1), p. 111.
PMID: 27829436
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A Recurrent Ercc3 Truncating Mutation Confers Moderate Risk For Breast Cancer
Authors: Vijai J. , Topka S. , Villano D. , Ravichandran V. , Maxwell K.N. , Maria A. , Thomas T. , Gaddam P. , Lincoln A. , Kazzaz S. , et al. .
Source: Cancer Discovery, 2016 Nov; 6(11), p. 1267-1275.
PMID: 27655433
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Association Of Breast Cancer Risk In Brca1 And Brca2 Mutation Carriers With Genetic Variants Showing Differential Allelic Expression: Identification Of A Modifier Of Breast Cancer Risk At Locus 11q22.3
Authors: Hamdi Y. , Soucy P. , Kuchenbaeker K.B. , Pastinen T. , Droit A. , Lemaçon A. , Adlard J. , Aittomäki K. , Andrulis I.L. , Arason A. , et al. .
Source: Breast Cancer Research And Treatment, 2016-10-28 00:00:00.0; , .
PMID: 27796716
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Evidence That The 5p12 Variant Rs10941679 Confers Susceptibility To Estrogen-receptor-positive Breast Cancer Through Fgf10 And Mrps30 Regulation
Authors: Ghoussaini M. , French J.D. , Michailidou K. , Nord S. , Beesley J. , Canisus S. , Hillman K.M. , Kaufmann S. , Sivakumaran H. , Moradi Marjaneh M. , et al. .
Source: American Journal Of Human Genetics, 2016-10-06 00:00:00.0; 99(4), p. 903-911.
PMID: 27640304
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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Authors: Muranen T.A. , Greco D. , Blomqvist C. , Aittomäki K. , Khan S. , Hogervorst F. , Verhoef S. , Pharoah P.D. , Dunning A.M. , Shah M. , et al. .
Source: Genetics In Medicine : Official Journal Of The American College Of Medical Genetics, 2016-10-06 00:00:00.0; , .
EPub date: 2016-10-06 00:00:00.0.
PMID: 27711073
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Patient Survival And Tumor Characteristics Associated With Chek2:p.i157t - Findings From The Breast Cancer Association Consortium
Authors: Muranen T.A. , Blomqvist C. , Dörk T. , Jakubowska A. , Heikkilä P. , Fagerholm R. , Greco D. , Aittomäki K. , Bojesen S.E. , Shah M. , et al. .
Source: Breast Cancer Research : Bcr, 2016-10-03 00:00:00.0; 18(1), p. 98.
PMID: 27716369
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Fine Scale Mapping Of The 17q22 Breast Cancer Locus Using Dense Snps, Genotyped Within The Collaborative Oncological Gene-environment Study (cogs)
Authors: Darabi H. , Beesley J. , Droit A. , Kar S. , Nord S. , Moradi Marjaneh M. , Soucy P. , Michailidou K. , Ghoussaini M. , Fues Wahl H. , et al. .
Source: Scientific Reports, 2016-09-07 00:00:00.0; 6, p. 32512.
PMID: 27600471
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Functional Mechanisms Underlying Pleiotropic Risk Alleles At The 19p13.1 Breast-ovarian Cancer Susceptibility Locus
Authors: Lawrenson K. , Kar S. , McCue K. , Kuchenbaeker K. , Michailidou K. , Tyrer J. , Beesley J. , Ramus S.J. , Li Q. , Delgado M.K. , et al. .
Source: Nature Communications, 2016-09-07 00:00:00.0; 7, p. 12675.
PMID: 27601076
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An Intergenic Risk Locus Containing An Enhancer Deletion In 2q35 Modulates Breast Cancer Risk By Deregulating Igfbp5 Expression
Authors: Wyszynski A. , Hong C.C. , Lam K. , Michailidou K. , Lytle C. , Yao S. , Zhang Y. , Bolla M.K. , Wang Q. , Dennis J. , et al. .
Source: Human Molecular Genetics, 2016-09-01 00:00:00.0; 25(17), p. 3863-3876.
PMID: 27402876
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Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
Authors: Kar S.P. , Beesley J. , Amin Al Olama A. , Michailidou K. , Tyrer J. , Kote-Jarai Z. , Lawrenson K. , Lindstrom S. , Ramus S.J. , Thompson D.J. , et al. .
Source: Cancer Discovery, 2016 Sep; 6(9), p. 1052-67.
PMID: 27432226
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Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
Authors: Schmidt M.K. , Hogervorst F. , van Hien R. , Cornelissen S. , Broeks A. , Adank M.A. , Meijers H. , Waisfisz Q. , Hollestelle A. , Schutte M. , et al. .
Source: Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology, 2016-08-10 00:00:00.0; 34(23), p. 2750-60.
EPub date: 2016-08-10 00:00:00.0.
PMID: 27269948
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Genetically Predicted Body Mass Index And Breast Cancer Risk: Mendelian Randomization Analyses Of Data From 145,000 Women Of European Descent
Authors: Guo Y. , Warren Andersen S. , Shu X.O. , Michailidou K. , Bolla M.K. , Wang Q. , Garcia-Closas M. , Milne R.L. , Schmidt M.K. , Chang-Claude J. , et al. .
Source: Plos Medicine, 2016 Aug; 13(8), p. e1002105.
PMID: 27551723
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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Authors: Zeng C. , Guo X. , Long J. , Kuchenbaecker K.B. , Droit A. , Michailidou K. , Ghoussaini M. , Kar S. , Freeman A. , Hopper J.L. , et al. .
Source: Breast Cancer Research : Bcr, 2016-06-21 00:00:00.0; 18(1), p. 64.
EPub date: 2016-06-21 00:00:00.0.
PMID: 27459855
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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Authors: Maxwell K.N. , Hart S.N. , Vijai J. , Schrader K.A. , Slavin T.P. , Thomas T. , Wubbenhorst B. , Ravichandran V. , Moore R.M. , Hu C. , et al. .
Source: American Journal Of Human Genetics, 2016-05-05 00:00:00.0; 98(5), p. 801-17.
PMID: 27153395
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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Authors: Easton D.F. , Lesueur F. , Decker B. , Michailidou K. , Li J. , Allen J. , Luccarini C. , Pooley K.A. , Shah M. , Bolla M.K. , et al. .
Source: Journal Of Medical Genetics, 2016 May; 53(5), p. 298-309.
PMID: 26921362
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Authors: Couch F.J. , Kuchenbaecker K.B. , Michailidou K. , Mendoza-Fandino G.A. , Nord S. , Lilyquist J. , Olswold C. , Hallberg E. , Agata S. , Ahsan H. , et al. .
Source: Nature Communications, 2016-04-27 00:00:00.0; 7, p. 11375.
EPub date: 2016-04-27 00:00:00.0.
PMID: 27117709
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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Authors: Dunning A.M. , Michailidou K. , Kuchenbaecker K.B. , Thompson D. , French J.D. , Beesley J. , Healey C.S. , Kar S. , Pooley K.A. , Lopez-Knowles E. , et al. .
Source: Nature Genetics, 2016 Apr; 48(4), p. 374-86.
PMID: 26928228
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Genetic predisposition to ductal carcinoma in situ of the breast.
Authors: Petridis C. , Brook M.N. , Shah V. , Kohut K. , Gorman P. , Caneppele M. , Levi D. , Papouli E. , Orr N. , Cox A. , et al. .
Source: Breast Cancer Research : Bcr, 2016-02-17 00:00:00.0; 18(1), p. 22.
EPub date: 2016-02-17 00:00:00.0.
PMID: 26884359
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Authors: Silvestri V. , Barrowdale D. , Mulligan A.M. , Neuhausen S.L. , Fox S. , Karlan B.Y. , Mitchell G. , James P. , Thull D.L. , Zorn K.K. , et al. .
Source: Breast Cancer Research : Bcr, 2016-02-09 00:00:00.0; 18(1), p. 15.
EPub date: 2016-02-09 00:00:00.0.
PMID: 26857456
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Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers.
Authors: Sung H. , Garcia-Closas M. , Chang-Claude J. , Blows F.M. , Ali H.R. , Figueroa J. , Nevanlinna H. , Fagerholm R. , Heikkilä P. , Blomqvist C. , et al. .
Source: British Journal Of Cancer, 2016-02-02 00:00:00.0; 114(3), p. 298-304.
EPub date: 2016-02-02 00:00:00.0.
PMID: 26679376
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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
Authors: Meeks H.D. , Song H. , Michailidou K. , Bolla M.K. , Dennis J. , Wang Q. , Barrowdale D. , Frost D. , EMBRACE , McGuffog L. , et al. .
Source: Journal Of The National Cancer Institute, 2016 Feb; 108(2), .
PMID: 26586665
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Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.
Authors: Lei J. , Rudolph A. , Moysich K.B. , Behrens S. , Goode E.L. , Bolla M.K. , Dennis J. , Dunning A.M. , Easton D.F. , Wang Q. , et al. .
Source: Human Genetics, 2016 Jan; 135(1), p. 137-54.
PMID: 26621531
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Genomic Biomarkers for Breast Cancer Risk.
Authors: Walsh M.F. , Nathanson K.L. , Couch F.J. , Offit K. .
Source: Advances In Experimental Medicine And Biology, 2016; 882, p. 1-32.
PMID: 26987529
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RAD51B in Familial Breast Cancer.
Authors: Pelttari L.M. , Khan S. , Vuorela M. , Kiiski J.I. , Vilske S. , Nevanlinna V. , Ranta S. , Schleutker J. , Winqvist R. , Kallioniemi A. , et al. .
Source: Plos One, 2016; 11(5), p. e0153788.
PMID: 27149063
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Fine-mapping Of The 1p11.2 Breast Cancer Susceptibility Locus
Authors: Horne H.N. , Chung C.C. , Zhang H. , Yu K. , Prokunina-Olsson L. , Michailidou K. , Bolla M.K. , Wang Q. , Dennis J. , Hopper J.L. , et al. .
Source: Plos One, 2016; 11(8), p. e0160316.
PMID: 27556229
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SNP-SNP interaction analysis of NF-¿B signaling pathway on breast cancer survival.
Authors: Jamshidi M. , Fagerholm R. , Khan S. , Aittomäki K. , Czene K. , Darabi H. , Li J. , Andrulis I.L. , Chang-Claude J. , Devilee P. , et al. .
Source: Oncotarget, 2015-11-10 00:00:00.0; 6(35), p. 37979-94.
PMID: 26317411
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Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization.
Authors: Zhang B. , Shu X.O. , Delahanty R.J. , Zeng C. , Michailidou K. , Bolla M.K. , Wang Q. , Dennis J. , Wen W. , Long J. , et al. .
Source: Journal Of The National Cancer Institute, 2015 Nov; 107(11), .
PMID: 26296642
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Authors: Peterlongo P. , Catucci I. , Colombo M. , Caleca L. , Mucaki E. , Bogliolo M. , Marin M. , Damiola F. , Bernard L. , Pensotti V. , et al. .
Source: Human Molecular Genetics, 2015-09-15 00:00:00.0; 24(18), p. 5345-55.
EPub date: 2015-09-15 00:00:00.0.
PMID: 26130695
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Collaborative Science In The Next-generation Sequencing Era: A Viewpoint On How To Combine Exome Sequencing Data Across Sites To Identify Novel Disease Susceptibility Genes
Authors: Hart S.N. , Maxwell K.N. , Thomas T. , Ravichandran V. , Wubberhorst B. , Klein R.J. , Schrader K. , Szabo C. , Weitzel J.N. , Neuhausen S.L. , et al. .
Source: Briefings In Bioinformatics, 2015-09-10 00:00:00.0; , .
PMID: 26358132
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