Works matching AU David E. Goldgar

Results: 66

A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes.

Published in:

Genetic Epidemiology, 2005, v. 29, n. 1, p. 1, doi. 10.1002/gepi.20074

By:

Antonis C. Antoniou;
David E. Goldgar;
Nadine Andrieu;
Jenny Chang-Claude;
Richard Brohet;
Matti A. Rookus;
Douglas F. Easton

Publication type:

Article

The performance of MIM in comparison with MAPMAKER/SIBS to detect QTLs.

Published in:

Genetic Epidemiology, 1997, v. 14, n. 6, p. 897, doi. 10.1002/(SICI)1098-2272(1997)14:6<897::AID-GEPI56>3.0.CO;2-H

By:

Shugart, Yin Y.;
Goldgar, David E.

Publication type:

Article

Screening for linkage using a multipoint identity-by-descent method.

Published in:

Genetic Epidemiology, 1995, v. 12, n. 6, p. 777, doi. 10.1002/gepi.1370120641

By:

Lewis, Cathryn M.;
Goldgar, David E.

Publication type:

Article

Analysis of familial breast cancer in genetic analysis workshop 9: Summary of findings.

Published in:

Genetic Epidemiology, 1995, v. 12, n. 6, p. 833, doi. 10.1002/gepi.1370120650

By:

Goldgar, David E.

Publication type:

Article

Analysis of discrete phenotypes using a multipoint identity-by-descent method: Application to Alzheimer's disease.

Published in:

Genetic Epidemiology, 1993, v. 10, n. 6, p. 383, doi. 10.1002/gepi.1370100609

By:

Goldgar, David E.;
Lewis, Cathryn M.;
Gholami, Khosrow

Publication type:

Article

Mutation prevalence tables for hereditary cancer derived from multigene panel testing.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. e1, doi. 10.1002/humu.24053

By:

Hart, Steven N.;
Polley, Eric C.;
Yussuf, Amal;
Yadav, Siddhartha;
Goldgar, David E.;
Hu, Chunling;
LaDuca, Holly;
Smith, Laura P.;
Fujimoto, June;
Li, Shuwei;
Couch, Fergus J.;
Dolinsky, Jill S.

Publication type:

Article

Mutational spectrum in a worldwide study of 29,700 families with <italic>BRCA1</italic> or <italic>BRCA2</italic> mutations.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 593, doi. 10.1002/humu.23406

By:

Rebbeck, Timothy R.;
Friebel, Tara M.;
Friedman, Eitan;
Hamann, Ute;
Huo, Dezheng;
Kwong, Ava;
Olah, Edith;
Olopade, Olufunmilayo I.;
Solano, Angela R.;
Teo, Soo‐Hwang;
Thomassen, Mads;
Weitzel, Jeffrey N.;
Chan, T. L.;
Couch, Fergus J.;
Goldgar, David E.;
Kruse, Torben A.;
Palmero, Edenir Inêz;
Park, Sue Kyung;
Torres, Diana;
van Rensburg, Elizabeth J.

Publication type:

Article

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Published in:

Human Mutation, 2016, v. 37, n. 7, p. 627, doi. 10.1002/humu.22973

By:

Vallée, Maxime P.;
Sera, Tonya L.;
Nix, David A.;
Paquette, Andrew M.;
Parsons, Michael T.;
Bell, Russel;
Hoffman, Andrea;
Hogervorst, Frans B. L.;
Goldgar, David E.;
Spurdle, Amanda B.;
Tavtigian, Sean V.

Publication type:

Article

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214

By:

Thompson, Bryony A.;
Greenblatt, Marc S.;
Vallee, Maxime P.;
Herkert, Johanna C.;
Tessereau, Chloe;
Young, Erin L.;
Adzhubey, Ivan A.;
Li, Biao;
Bell, Russell;
Feng, Bingjian;
Mooney, Sean D.;
Radivojac, Predrag;
Sunyaev, Shamil R.;
Frebourg, Thierry;
Hofstra, Robert M.W.;
Sijmons, Rolf H.;
Boucher, Ken;
Thomas, Alun;
Goldgar, David E.;
Spurdle, Amanda B.

Publication type:

Article

A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 200, doi. 10.1002/humu.22213

By:

Thompson, Bryony A.;
Goldgar, David E.;
Paterson, Carol;
Clendenning, Mark;
Walters, Rhiannon;
Arnold, Sven;
Parsons, Michael T.;
Michael D., Walsh;
Gallinger, Steven;
Haile, Robert W.;
Hopper, John L.;
Jenkins, Mark A.;
LeMarchand, Loic;
Lindor, Noralane M.;
Newcomb, Polly A.;
Thibodeau, Stephen N.;
Young, Joanne P.;
Buchanan, Daniel D.;
Tavtigian, Sean V.;
Spurdle, Amanda B.

Publication type:

Article

Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 22, doi. 10.1002/humu.21629

By:

Vallée, Maxime P.;
Francy, Tiana C.;
Judkins, Megan K.;
Babikyan, Davit;
Lesueur, Fabienne;
Gammon, Amanda;
Goldgar, David E.;
Couch, Fergus J.;
Tavtigian, Sean V.

Publication type:

Article

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 2, doi. 10.1002/humu.21628

By:

Spurdle, Amanda B.;
Healey, Sue;
Devereau, Andrew;
Hogervorst, Frans B. L.;
Monteiro, Alvaro N. A.;
Nathanson, Katherine L.;
Radice, Paolo;
Stoppa-Lyonnet, Dominique;
Tavtigian, Sean;
Wappenschmidt, Barbara;
Couch, Fergus J.;
Goldgar, David E.

Publication type:

Article

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 8, doi. 10.1002/humu.21627

By:

Lindor, Noralane M.;
Guidugli, Lucia;
Wang, Xianshu;
Vallée, Maxime P.;
Monteiro, Alvaro N. A.;
Tavtigian, Sean;
Goldgar, David E.;
Couch, Fergus J.

Publication type:

Article

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495

By:

Whiley, Phillip J.;
Guidugli, Lucia;
Walker, Logan C.;
Healey, Sue;
Thompson, Bryony A.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Investigators, kConFab;
Tavtigian, Sean V.;
Goldgar, David E.;
Brown, Melissa A.;
Couch, Fergus J.;
Spurdle, Amanda B.

Publication type:

Article

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267

By:

Walker, Logan C.;
Whiley, Phillip J.;
Couch, Fergus J.;
Farrugia, Daniel J.;
Healey, Sue;
Eccles, Diana M.;
Lin, Feng;
Butler, Samantha A.;
Goff, Sheila A.;
Thompson, Bryony A.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Tavtigian, Sean V.;
Goldgar, David E.;
Brown, Melissa A.;
Spurdle, Amanda B.

Publication type:

Article

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. E1141, doi. 10.1002/humu.21181

By:

Spurdle, Amanda B.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Balleine, Rosemary L.;
Investigators, kConFab;
Goldgar, David E.

Publication type:

Article

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Published in:

Human Mutation, 2009, v. 30, n. 5, p. 757, doi. 10.1002/humu.20936

By:

Arnold, Sven;
Buchanan, Daniel D.;
Barker, Melissa;
Jaskowski, Lesley;
Walsh, Michael D.;
Birney, Genevieve;
Woods, Michael O.;
Hopper, John L.;
Jenkins, Mark A.;
Brown, Melissa A.;
Tavtigian, Sean V.;
Goldgar, David E.;
Young, Joanne P.;
Spurdle, Amanda B.

Publication type:

Article

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1342, doi. 10.1002/humu.20896

By:

Tavtigian, Sean V.;
Byrnes, Graham B.;
Goldgar, David E.;
Thomas, Alun

Publication type:

Article

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.

Published in:

2008

By:

Tavtigian, Sean V.;
Greenblatt, Marc S.;
Goldgar, David E.;
Boffetta, Paolo

Publication type:

Other

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. 1265, doi. 10.1002/humu.20897

By:

Goldgar, David E.;
Easton, Douglas F.;
Byrnes, Graham B.;
Spurdle, Amanda B.;
Iversen, Edwin S.;
Greenblatt, Marc S.

Publication type:

Article

BRCA1 and BRCA2 in Indian breast cancer patients.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9082

By:

Saxena, Sunita;
Szabo, Csilla I.;
Chopin, Sandrine;
Barjhoux, Laure;
Sinilnikova, Olga;
Lenoir, Gilbert;
Goldgar, David E.;
Bhatanager, Dinesh

Publication type:

Article

BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 474, doi. 10.1002/humu.9084

By:

Ruiz-Flores, Pablo;
Sinilnikova, Olga M.;
Badzioch, Michael;
Calderon-Garcidueñas, A.L.;
Chopin, Sandrine;
Fabrice, Odefrey;
González-Guerrero, J.F.;
Szabo, Csilla;
Lenoir, Gilbert;
Goldgar, David E.;
Barrera-Saldaña, Hugo A.

Publication type:

Article

Comparison of intracalss correlation coefficients with the ratio of two independent f-statistics.

Published in:

Communications in Statistics: Theory & Methods, 1980, v. 9, n. 15, p. 1641, doi. 10.1080/03610928008827988

By:

Zerbe, Cary O.;
Goldgar, David E.

Publication type:

Article

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13

By:

Tischkowitz, Marc;
Hamel, Nancy;
Carvalho, Marcelo A.;
Birrane, Gabriel;
Soni, Aditi;
van Beers, Erik H.;
Joosse, Simon A.;
Wong, Nora;
Novak, David;
Quenneville, Louise A.;
Grist, Scott A.;
Nederlof, Petra M.;
Goldgar, David E.;
Tavtigian, Sean V.;
Monteiro, Alvaro N.;
Ladias, John A. A.;
Foulkes, William D.

Publication type:

Article

Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 103, doi. 10.1038/sj.ejhg.5200280

By:

Shugart, Yin Y;
Goldgar, David E

Publication type:

Article

Increased Risk for Nonmedullary Thyroid Cancer in the First Degree Relatives of Prevalent Cases of Nonmedullary Thyroid Cancer: A Hospital-Based Study.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5307, doi. 10.1210/jcem.86.11.8010

By:

PAL, TUYA;
VOGL, FLORIAN D.;
CHAPPUIS, PIERRE O.;
TSANG, RICHARD;
BRIERLEY, JAMES;
RENARD, HELENE;
SANDERS, KEVIN;
KANTEMIROFF, TANIA;
BAGHA, SABIRA;
GOLDGAR, DAVID E.;
NAROD, STEVEN A.;
FOULKES, WILLIAM D.

Publication type:

Article

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086836

By:

Whiley, Phillip J.;
Parsons, Michael T.;
Leary, Jennifer;
Tucker, Kathy;
Warwick, Linda;
Dopita, Belinda;
Thorne, Heather;
Lakhani, Sunil R.;
Goldgar, David E.;
Brown, Melissa A.;
Spurdle, Amanda B.

Publication type:

Article

Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023221

By:

Feng, Bing-Jian;
Tavtigian, Sean V.;
Southey, Melissa C.;
Goldgar, David E.

Publication type:

Article

Multipoint analysis of chromosome 11p markers.

Published in:

Genetic Epidemiology, 1986, v. 3, n. S1, p. 141, doi. 10.1002/gepi.1370030722

By:

Goldgar, David E.;
Fain, Pamela R.

Publication type:

Article

A nonparametric test of heterogeneity of family risk.

Published in:

Genetic Epidemiology, 1986, v. 3, n. S1, p. 61, doi. 10.1002/gepi.1370030710

By:

Fain, Pamela R.;
Goldgar, David E.

Publication type:

Article

Genetic analysis workshop II: Results of incorporating a linkage disequilibrium parameter.

Published in:

Genetic Epidemiology, 1984, v. 1, n. 2, p. 179, doi. 10.1002/gepi.1370010211

By:

Goldgar, David E.;
Fain, Pamela R.

Publication type:

Article

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.

Published in:

2021

By:

Yadav, Siddhartha;
LaDuca, Holly;
Polley, Eric C;
Hu, Chunling;
Niguidula, Nancy;
Shimelis, Hermela;
Lilyquist, Jenna;
Na, Jie;
Lee, Kun Y;
Gutierrez, Stephanie;
Yussuf, Amal;
Hart, Steven N;
Davis, Brigette Tippin;
Chao, Elizabeth C;
Pesaran, Tina;
Goldgar, David E;
Dolinsky, Jill S;
Couch, Fergus J

Publication type:

journal article

The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort.

Published in:

2020

By:

Hu, Chunling;
Polley, Eric C;
Yadav, Siddhartha;
Lilyquist, Jenna;
Shimelis, Hermela;
Na, Jie;
Hart, Steven N;
Goldgar, David E;
Shah, Swati;
Pesaran, Tina;
Dolinsky, Jill S;
LaDuca, Holly;
Couch, Fergus J

Publication type:

journal article

Response.

Published in:

2016

By:

Spurdle, Amanda B.;
Domchek, Susan;
Robson, Mark;
Buys, Saundra;
Radice, Paolo;
de la Hoya, Miguel;
Devilee, Peter;
Monteiro, Alvaro N. A.;
Southey, Melissa;
Eccles, Diana;
Couch, Fergus J.;
Goldgar, David E.;
all authors

Publication type:

Letter

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.

Published in:

2017

By:

Kuchenbaecker, Karoline B.;
Hopper, John L.;
Barnes, Daniel R.;
Phillips, Kelly-Anne;
Mooij, Thea M.;
Roos-Blom, Marie-José;
Jervis, Sarah;
van Leeuwen, Flora E.;
Milne, Roger L.;
Andrieu, Nadine;
Goldgar, David E.;
Terry, Mary Beth;
Rookus, Matti A.;
Easton, Douglas F.;
Antoniou, Antonis C.;
and the BRCA1 and BRCA2 Cohort Consortium;
McGuffog, Lesley;
Evans, D Gareth;
Barrowdale, Daniel;
Frost, Debra

Publication type:

journal article

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

Published in:

PLoS Genetics, 2016, v. 12, n. 6, p. 1, doi. 10.1371/journal.pgen.1006096

By:

Thouvenot, Pierre;
Ben Yamin, Barbara;
Fourrière, Lou;
Lescure, Aurianne;
Boudier, Thomas;
Del Nery, Elaine;
Chauchereau, Anne;
Goldgar, David E.;
Houdayer, Claude;
Stoppa-Lyonnet, Dominique;
Nicolas, Alain;
Millot, Gaël A.

Publication type:

Article

Response.

Published in:

2007

By:

Andrieu, Nadine;
Goldgar, David E.;
Easton, Douglas F.;
Rookus, Matti;
Brohet, Richard;
Antoniou, Antonis C.;
Chang-Claude, Jenny

Publication type:

Letter

Pregnancies, Breast-Feeding, and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS).

Published in:

JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 8, p. 535, doi. 10.1093/jnci/djj132

By:

Andrieu, Nadine;
Goldgar, David E.;
Easton, Douglas F.;
Rookus, Matti;
Brohet, Richard;
Antoniou, Antonis C.;
Peock, Susan;
Evans, Gareth;
Eccles, Diana;
Douglas, Fiona;
Noguës, Catherine;
Gauthier-Villars, Marion;
Chompret, Agnes;
Leeuwen, Flora E. Van;
Kluijt, Irma;
Benitez, Javier;
Arver, Brita;
Olah, Edith;
Chang-Claude, Jenny

Publication type:

Article

Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 6, p. 835, doi. 10.1093/hmg/5.6.835

By:

Durocher, Francine;
Shattuck-Eidens, Donna;
McClure, Melody;
Labrie, Fernand;
Skolnick, Mark H.;
Goldgar, David E.;
Simard, Jacques

Publication type:

Article

Heritable DNA methylation marks associated with susceptibility to breast cancer.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03058-6

By:

Joo, Jihoon E.;
Dowty, James G.;
Milne, Roger L.;
Ee Ming Wong;
Dugué, Pierre-Antoine;
English, Dallas;
Hopper, John L.;
Goldgar, David E.;
Giles, Graham G.;
Southey, Melissa C.

Publication type:

Article

Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC).

Published in:

2016

By:

Terry, Mary Beth;
Phillips, Kelly-Anne;
Daly, Mary B.;
John, Esther M.;
Andrulis, Irene L.;
Buys, Saundra S.;
Goldgar, David E.;
Knight, Julia A.;
Whittemore, Alice S.;
Chung, Wendy K.;
Apicella, Carmel;
Hopper, John L.

Publication type:

journal article

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Published in:

2018

By:

Young, Erin L.;
Thompson, Bryony A.;
Neklason, Deborah W.;
Firpo, Matthew A.;
Werner, Theresa;
Bell, Russell;
Berger, Justin;
Fraser, Alison;
Gammon, Amanda;
Koptiuch, Cathryn;
Kohlmann, Wendy K.;
Neumayer, Leigh;
Goldgar, David E.;
Mulvihill, Sean J.;
Cannon-Albright, Lisa A.;
Tavtigian, Sean V.

Publication type:

journal article

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management.

Published in:

Oncologist, 2013, v. 18, n. 5, p. 518, doi. 10.1634/theoncologist.2012-0452

By:

Lindor, Noralane M.;
Goldgar, David E.;
Tavtigian, Sean V.;
Plon, Sharon E.;
Couch, Fergus J.

Publication type:

Article

Association between IL13 Polymorphisms and Psoriatic Arthritis Is Modified by Smoking.

Published in:

Journal of Investigative Dermatology, 2009, v. 129, n. 12, p. 2777, doi. 10.1038/jid.2009.169

By:

Duffin, Kristina Callis;
Freeny, Ingrid C.;
Schrodi, Steven J.;
Bob Wong;
Bing-Jian Feng;
Soltani-Arabshahi, Razieh;
Rakkhit, Tina;
Goldgar, David E.;
Krueger, Gerald G.

Publication type:

Article

Trend-TDT -- a transmission/disequilibrium based association test on functional mini/microsatellites.

Published in:

BMC Genetics, 2007, v. 8, p. 75, doi. 10.1186/1471-2156-8-75

By:

Bing-Jian Feng;
Goldgar, David E.;
Corbex, Marilys

Publication type:

Article

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Published in:

2018

By:

Nguyen-Dumont, Tú;
Teo, Zhi L.;
Hammet, Fleur;
Roberge, Alexis;
Mahmoodi, Maryam;
Tsimiklis, Helen;
Park, Daniel J.;
Pope, Bernard J.;
Lonie, Andrew;
Kapuscinski, Miroslav K.;
Mahmood, Khalid;
ABCFR;
Goldgar, David E.;
Giles, Graham G.;
Winship, Ingrid;
Hopper, John L.;
Southey, Melissa C.;
Nguyen-Dumont, Tú

Publication type:

journal article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Published in:

Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-015-0567-2

By:

Blein, Sophie;
Bardel, Claire;
Danjean, Vincent;
McGuffog, Lesley;
Healey, Sue;
Barrowdale, Daniel;
Lee, Andrew;
Dennis, Joe;
Kuchenbaecker, Karoline B.;
Soucy, Penny Soucy;
Terry, Mary Beth;
Chung, Wendy K.;
Goldgar, David E.;
Buys, Saundra S.;
Janavicius, Ramunas;
Tihomirova, Laima;
Nadine Tung;
Dorfling, Cecilia M.;
van Rensburg, Elizabeth J.;
Neuhausen, Susan L.

Publication type:

Article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Published in:

2015

By:

Blein, Sophie;
Bardel, Claire;
Danjean, Vincent;
McGuffog, Lesley;
Healey, Sue;
Barrowdale, Daniel;
Lee, Andrew;
Dennis, Joe;
Kuchenbaecker, Karoline B;
Soucy, Penny;
Terry, Mary Beth;
Chung, Wendy K;
Goldgar, David E;
Buys, Saundra S;
Janavicius, Ramunas;
Tihomirova, Laima;
Tung, Nadine;
Dorfling, Cecilia M;
van Rensburg, Elizabeth J;
Neuhausen, Susan L

Publication type:

journal article

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Published in:

Breast Cancer Research, 2014, v. 16, n. 3, p. 1, doi. 10.1186/bcr3669

By:

Damiola, Francesca;
Pertesi, Maroulio;
Oliver, Javier;
Calvez-Kelm, Florence Le;
Voegele, Catherine;
Young, Erin L.;
Robinot, Nivonirina;
Forey, Nathalie;
Durand, Geoffroy;
Vallée, Maxime P.;
Tao, Kayoko;
Roane, Terrell C.;
Williams, Gareth J.;
Hopper, John L.;
Southey, Melissa C.;
Andrulis, Irene L.;
John, Esther M.;
Goldgar, David E.;
Lesueur, Fabienne;
Tavtigia, Sean V.

Publication type:

Article

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Published in:

2014

By:

Damiola, Francesca;
Pertesi, Maroulio;
Oliver, Javier;
Le Calvez-Kelm, Florence;
Voegele, Catherine;
Young, Erin L;
Robinot, Nivonirina;
Forey, Nathalie;
Durand, Geoffroy;
Vallée, Maxime P;
Tao, Kayoko;
Roane, Terrell C;
Williams, Gareth J;
Hopper, John L;
Southey, Melissa C;
Andrulis, Irene L;
John, Esther M;
Goldgar, David E;
Lesueur, Fabienne;
Tavtigian, Sean V

Publication type:

journal article