Fergus J Couch, PhD

Chair, Division of Experimental Pathology

  • 38376 Citations
  • 88 Scopus h-Index
1991 …2021
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Research Output 1991 2019

2019
1 Citation (Scopus)

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

LaDuca, H., Polley, E., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S., Yadav, S., Hu, C., Na, J., Goldgar, D. E., Fulk, K., Smith, L. P., Horton, C., Profato, J., Pesaran, T., Gau, C. L., Pronold, M., Davis, B. T., Chao, E. C., Couch, F. J. & 1 others, Dolinsky, J. S., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Neoplasm Genes
Genetic Testing
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
Melanoma

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

GEMO Study Collaborators, Oct 1 2019, In : Human mutation. 40, 10, p. 1781-1796 16 p.

Research output: Contribution to journalArticle

Databases
Research Personnel
Research
Population
Neoplasms

Functional characterization of 84 PALB2 variants of uncertain significance

Wiltshire, T., Ducy, M., Foo, T. K., Hu, C., Lee, K. Y., Belur Nagaraj, A., Rodrigue, A., Gomes, T. T., Simard, J., Monteiro, A. N. A., Xia, B., Carvalho, M. A., Masson, J. Y. & Couch, F. J., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

DNA Repair
Genetic Testing
Pancreatic Neoplasms
Cisplatin
DNA Damage

Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer

Ruddy, K. J., Schaid, D. J., Partridge, A. H., Larson, N. B., Batzler, A., Häberle, L., Dittrich, R., Widschwendter, P., Fink, V., Bauer, E., Schwitulla, J., Rübner, M., Ekici, A. B., Aivazova-Fuchs, V., Stewart, E. A., Beckmann, M. W., Ginsburg, E., Wang, L., Weinshilboum, R. M., Couch, F. J. & 4 others, Janni, W., Rack, B., Vachon, C. & Fasching, P. A., Jan 1 2019, (Accepted/In press) In : Fertility and Sterility.

Research output: Contribution to journalArticle

Amenorrhea
Breast Neoplasms
Drug Therapy
Menstruation
Phosphopantothenoyl-cysteine decarboxylase
2 Citations (Scopus)

Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

Opstal-Van Winden, A. W. J., De Haan, H. G., Hauptmann, M., Schmidt, M. K., Broeks, A., Russell, N. S., Janus, C. P. M., Krol, A. D. G., Van Der Baan, F. H., De Bruin, M. L., Van Eggermond, A. M., Dennis, J., Anton-Culver, H., Haiman, C. A., Sawyer, E. J., Cox, A., Devilee, P., Hooning, M. J., Peto, J., Couch, F. J. & 10 others, Pharoah, P., Orr, N., Easton, D. F., Aleman, B. M. P., Strong, L. C., Bhatia, S., Cooke, R., Robison, L. L., Swerdlow, A. J. & Van Leeuwen, F. E., Jan 1 2019, In : Blood. 133, 10, p. 1130-1139 10 p.

Research output: Contribution to journalArticle

Radiation-Induced Neoplasms
Genetic Predisposition to Disease
Hodgkin Disease
Breast Neoplasms
Radiation
1 Citation (Scopus)

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

EMBRACE Collaborators, GC-HBOC Study Collaborators, GEMO Study Collaborators, ABCTB Investigators, HEBON Investigators & BCFR Investigators, Dec 1 2019, In : Nature communications. 10, 1, 1741.

Research output: Contribution to journalArticle

Open Access
genome
Genome-Wide Association Study
loci
Transcriptome
breast
1 Citation (Scopus)

Genome-wide association study of germline variants and breast cancer-specific mortality

NBCS Collaborators, Mar 19 2019, In : British journal of cancer. 120, 6, p. 647-657 11 p.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Breast Neoplasms
Mortality
Meta-Analysis
Long Noncoding RNA
2 Citations (Scopus)

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

GEMO Study Collaborators, HEBON & EMBRACE, Apr 1 2019, In : Journal of the National Cancer Institute. 111, 4, p. 350-364 15 p.

Research output: Contribution to journalArticle

Random Allocation
Body Mass Index
Breast Neoplasms
Mutation
Confidence Intervals
2 Citations (Scopus)

Hereditary Cancer Syndromes—A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes

Samadder, N. J., Giridhar, K., Baffy, N., Riegert-Johnson, D. & Couch, F. J., Jun 1 2019, In : Mayo Clinic proceedings. 94, 6, p. 1084-1098 15 p.

Research output: Contribution to journalReview article

Open Access
Ovarian Neoplasms
Breast Neoplasms
Colorectal Neoplasms
Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
1 Citation (Scopus)

Hereditary Cancer Syndromes—A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes

Samadder, N. J., Baffy, N., Giridhar, K., Couch, F. J. & Riegert-Johnson, D., Jun 1 2019, In : Mayo Clinic proceedings. 94, 6, p. 1099-1116 18 p.

Research output: Contribution to journalReview article

Gastrointestinal Neoplasms
Colorectal Neoplasms
Hereditary Neoplastic Syndromes
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms

Hi-Plex2: A simple and robust approach to targeted sequencing-based genetic screening

Hammet, F., Mahmood, K., Green, T. R., Nguyen-Dumont, T., Southey, M. C., Buchanan, D. D., Lonie, A., Nathanson, K. L., Couch, F. J., Pope, B. J. & Park, D. J., Jan 1 2019, In : BioTechniques. 67, 3, p. 118-122 5 p.

Research output: Contribution to journalArticle

Open Access
Genetic Testing
Libraries
Screening
Costs and Cost Analysis
Gene Targeting
3 Citations (Scopus)

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

Fernandes, V. C., Golubeva, V. A., Pietro, G. D., Shields, C., Amankwah, K., Nepomuceno, T. C., de Gregoriis, G., Abreu, R. B. V., Harro, C., Gomes, T. T., Silva, R. F., Suarez-Kurtz, G., Couch, F. J., Iversen, E. S., Monteiro, A. N. A. & Carvalho, M. A., Jan 1 2019, In : Journal of Biological Chemistry. 294, 15, p. 5980-5992 13 p.

Research output: Contribution to journalArticle

Open Access
Amino Acid Substitution
Virulence
Tumors
Assays
Substitution reactions
1 Citation (Scopus)

Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk

Vachon, C. M., Scott, C. G., Tamimi, R. M., Thompson, D. J., Fasching, P. A., Stone, J., Southey, M. C., Winham, S. J., Lindström, S., Lilyquist, J., Giles, G. G., Milne, R. L., MacInnis, R. J., Baglietto, L., Li, J., Czene, K., Bolla, M. K., Wang, Q., Dennis, J., Haeberle, L. & 16 others, Eriksson, M., Kraft, P., Luben, R., Wareham, N., Olson, J. E., Norman, A., Polley, E., Maskarinec, G., Le Marchand, L., Haiman, C. A., Hopper, J. L., Couch, F. J., Easton, D. F., Hall, P., Chatterjee, N. & Garcia-Closas, M., May 22 2019, In : Breast Cancer Research. 21, 1, 68.

Research output: Contribution to journalArticle

Open Access
Body Mass Index
Breast Neoplasms
Odds Ratio
Single Nucleotide Polymorphism
Breast Density
1 Citation (Scopus)

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 201 others, Bonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Debatin, I., Del Valle, J., Delnatte, C., Derive, N., Diez, O., Ditsch, N., Domchek, S. M., Dutrannoy, V., Eccles, D. M., Ehrencrona, H., Enders, U., Evans, D. G., Farra, C., Faust, U., Felbor, U., Feroce, I., Fine, M., Foulkes, W. D., Galvao, H. C. R., Gambino, G., Gehrig, A., Gensini, F., Gerdes, A. M., Germani, A., Giesecke, J., Gismondi, V., Gómez, C., Gómez Garcia, E. B., González, S., Grau, E., Grill, S., Gross, E., Guerrieri-Gonzaga, A., Guillaud-Bataille, M., Gutiérrez-Enríquez, S., Haaf, T., Hackmann, K., Hansen, T. V. O., Harris, M., Hauke, J., Heinrich, T., Hellebrand, H., Herold, K. N., Honisch, E., Horvath, J., Houdayer, C., Hübbel, V., Iglesias, S., Izquierdo, A., James, P. A., Janssen, L. A. M., Jeschke, U., Kaulfuß, S., Keupp, K., Kiechle, M., Kölbl, A., Krieger, S., Kruse, T. A., Kvist, A., Lalloo, F., Larsen, M., Lattimore, V. L., Lautrup, C., Ledig, S., Leinert, E., Lewis, A. L., Lim, J., Loeffler, M., López-Fernández, A., Lucci-Cordisco, E., Maass, N., Manoukian, S., Marabelli, M., Matricardi, L., Meindl, A., Michelli, R. D., Moghadasi, S., Moles-Fernández, A., Montagna, M., Montalban, G., Monteiro, A. N., Montes, E., Mori, L., Moserle, L., Müller, C. R., Mundhenke, C., Naldi, N., Nathanson, K. L., Navarro, M., Nevanlinna, H., Nichols, C. B., Niederacher, D., Nielsen, H. R., Ong, K. R., Pachter, N., Palmero, E. I., Papi, L., Pedersen, I. S., Peissel, B., Perez-Segura, P., Pfeifer, K., Pineda, M., Pohl-Rescigno, E., Poplawski, N. K., Porfirio, B., Quante, A. S., Ramser, J., Reis, R. M., Revillion, F., Rhiem, K., Riboli, B., Ritter, J., Rivera, D., Rofes, P., Rump, A., Salinas, M., Sánchez de Abajo, A. M., Schmidt, G., Schoenwiese, U., Seggewiß, J., Solanes, A., Steinemann, D., Stiller, M., Stoppa-Lyonnet, D., Sullivan, K. J., Susman, R., Sutter, C., Tavtigian, S. V., Teo, S. H., Teulé, A., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tornero, E., Törngren, T., Torres-Esquius, S., Toss, A., Trainer, A. H., Tucker, K. M., van Asperen, C. J., van Mackelenbergh, M. T., Varesco, L., Vargas-Parra, G., Varon, R., Vega, A., Velasco, Á., Vesper, A. S., Viel, A., Vreeswijk, M. P. G., Wagner, S. A., Waha, A., Walker, L. C., Walters, R. J., Wang-Gohrke, S., Weber, B. H. F., Weichert, W., Wieland, K., Wiesmüller, L., Witzel, I., Wöckel, A., Woodward, E. R., Zachariae, S., Zampiga, V., Zeder-Göß, C., Investigators, KC. F., Lázaro, C., De Nicolo, A., Radice, P., Engel, C., Schmutzler, R. K., Goldgar, D. E. & Spurdle, A. B., Sep 1 2019, In : Human mutation. 40, 9, p. 1557-1578 22 p.

Research output: Contribution to journalArticle

Open Access
Virulence
Neoplasm Genes
Adenosine Monophosphate
Computational Biology
Calibration

Male breast cancer in the United States: Treatment patterns and prognostic factors in the 21st century

Yadav, S., Karam, D., Bin Riaz, I., Xie, H., Durani, U., Duma, N., Giridhar, K. V., Hieken, T. J., Boughey, J. C., Mutter, R. W., Hawse, J. R., Jimenez, R. E., Couch, F. J., Leon-Ferre, R. A. & Ruddy, K. J., Jan 1 2019, (Accepted/In press) In : Cancer.

Research output: Contribution to journalArticle

Male Breast Neoplasms
Simple Mastectomy
Radiotherapy
Therapeutics
Survival
1 Citation (Scopus)

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

KConFab investigators, HEBON Investigators, GEMO Study Collaborators & EMBRACE Collaborators, Jul 16 2019, In : British journal of cancer. 121, 2, p. 180-192 13 p.

Research output: Contribution to journalArticle

Random Allocation
Ovarian Neoplasms
Body Mass Index
Mutation
Confidence Intervals

Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers

the Hereditary Breast Cancer Clinical Study Group, Jan 1 2019, In : Breast Cancer Research and Treatment.

Research output: Contribution to journalArticle

Ovariectomy
Breast Neoplasms
Mutation
Second Primary Neoplasms
Mastectomy
44 Citations (Scopus)

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, Jan 3 2019, In : American Journal of Human Genetics. 104, 1, p. 21-34 14 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Estrogen Receptors
Prospective Studies
Single Nucleotide Polymorphism
Genome

Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C. & 313 others, Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y. C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K. T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H. J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H. E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., Dec 1 2019, In : Nature communications. 10, 1, 4386.

Research output: Contribution to journalComment/debate

Open Access
cancer
communication
Communication
Neoplasms
1 Citation (Scopus)

Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status

Antwi, S., Fagan, S. E., Chaffee, K. G., Bamlet, W. R., Hu, C., Polley, E., Hart, S., Shimelis, H., Lilyquist, J., Gnanaolivu, R. D., Mc Williams, R. R., Oberg, A. L., Couch, F. J. & Petersen, G. M., Mar 1 2019, In : Journal of the National Cancer Institute. 111, 3, p. 264-271 8 p.

Research output: Contribution to journalArticle

Pancreatic Neoplasms
Mutation
Genes
Confidence Intervals
Neoplasms
7 Citations (Scopus)

Shared heritability and functional enrichment across six solid cancers

Jiang, X., Finucane, H. K., Schumacher, F. R., Schmit, S. L., Tyrer, J. P., Han, Y., Michailidou, K., Lesseur, C., Kuchenbaecker, K. B., Dennis, J., Conti, D. V., Casey, G., Gaudet, M. M., Huyghe, J. R., Albanes, D., Aldrich, M. C., Andrew, A. S., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C. & 313 others, Antonenkova, N. N., Arnold, S. M., Aronson, K. J., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Batra, J., Beckmann, M. W., Benitez, J., Benlloch, S., Berchuck, A., Berndt, S. I., Bickeböller, H., Bien, S. A., Blomqvist, C., Boccia, S., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Brauch, H., Brenner, H., Brenton, J. D., Brook, M. N., Brunet, J., Brunnström, H., Buchanan, D. D., Burwinkel, B., Butzow, R., Cadoni, G., Caldés, T., Caligo, M. A., Campbell, I., Campbell, P. T., Cancel-Tassin, G., Cannon-Albright, L., Campa, D., Caporaso, N., Carvalho, A. L., Chan, A. T., Chang-Claude, J., Chanock, S. J., Chen, C., Christiani, D. C., Claes, K. B. M., Claessens, F., Clements, J., Collée, J. M., Correa, M. C., Couch, F. J., Cox, A., Cunningham, J. M., Cybulski, C., Czene, K., Daly, M. B., deFazio, A., Devilee, P., Diez, O., Gago-Dominguez, M., Donovan, J. L., Dörk, T., Duell, E. J., Dunning, A. M., Dwek, M., Eccles, D. M., Edlund, C. K., Edwards, D. R. V., Ellberg, C., Evans, D. G., Fasching, P. A., Ferris, R. L., Liloglou, T., Figueiredo, J. C., Fletcher, O., Fortner, R. T., Fostira, F., Franceschi, S., Friedman, E., Gallinger, S. J., Ganz, P. A., Garber, J., García-Sáenz, J. A., Gayther, S. A., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Goode, E. L., Goodman, M. T., Goodman, G., Grankvist, K., Greene, M. H., Gronberg, H., Gronwald, J., Guénel, P., Håkansson, N., Hall, P., Hamann, U., Hamdy, F. C., Hamilton, R. J., Hampe, J., Haugen, A., Heitz, F., Herrero, R., Hillemanns, P., Hoffmeister, M., Høgdall, E., Hong, Y. C., Hopper, J. L., Houlston, R., Hulick, P. J., Hunter, D. J., Huntsman, D. G., Idos, G., Imyanitov, E. N., Ingles, S. A., Isaacs, C., Jakubowska, A., James, P., Jenkins, M. A., Johansson, M., Johansson, M., John, E. M., Joshi, A. D., Kaneva, R., Karlan, B. Y., Kelemen, L. E., Kühl, T., Khaw, K. T., Khusnutdinova, E., Kibel, A. S., Kiemeney, L. A., Kim, J., Kjaer, S. K., Knight, J. A., Kogevinas, M., Kote-Jarai, Z., Koutros, S., Kristensen, V. N., Kupryjanczyk, J., Lacko, M., Lam, S., Lambrechts, D., Landi, M. T., Lazarus, P., Le, N. D., Lee, E., Lejbkowicz, F., Lenz, H. J., Leslie, G., Lessel, D., Lester, J., Levine, D. A., Li, L., Li, C. I., Lindblom, A., Lindor, N. M., Liu, G., Loupakis, F., Lubiński, J., Maehle, L., Maier, C., Mannermaa, A., Marchand, L. L., Margolin, S., May, T., McGuffog, L., Meindl, A., Middha, P., Miller, A., Milne, R. L., MacInnis, R. J., Modugno, F., Montagna, M., Moreno, V., Moysich, K. B., Mucci, L., Muir, K., Mulligan, A. M., Nathanson, K. L., Neal, D. E., Ness, A. R., Neuhausen, S. L., Nevanlinna, H., Newcomb, P. A., Newcomb, L. F., Nielsen, F. C., Nikitina-Zake, L., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olama, A. A. A., Olopade, O. I., Olshan, A. F., Olsson, H., Osorio, A., Pandha, H., Park, J. Y., Pashayan, N., Parsons, M. T., Pejovic, T., Penney, K. L., Peters, W. H. M., Phelan, C. M., Phipps, A. I., Plaseska-Karanfilska, D., Pring, M., Prokofyeva, D., Radice, P., Stefansson, K., Ramus, S. J., Raskin, L., Rennert, G., Rennert, H. S., van Rensburg, E. J., Riggan, M. J., Risch, H. A., Risch, A., Roobol, M. J., Rosenstein, B. S., Rossing, M. A., De Ruyck, K., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schabath, M. B., Schleutker, J., Schmidt, M. K., Setiawan, V. W., Shen, H., Siegel, E. M., Sieh, W., Singer, C. F., Slattery, M. L., Sorensen, K. D., Southey, M. C., Spurdle, A. B., Stanford, J. L., Stevens, V. L., Stintzing, S., Stone, J., Sundfeldt, K., Sutphen, R., Swerdlow, A. J., Tajara, E. H., Tangen, C. M., Tardon, A., Taylor, J. A., Teare, M. D., Teixeira, M. R., Terry, M. B., Terry, K. L., Thibodeau, S. N., Thomassen, M., Bjørge, L., Tischkowitz, M., Toland, A. E., Torres, D., Townsend, P. A., Travis, R. C., Tung, N., Tworoger, S. S., Ulrich, C. M., Usmani, N., Vachon, C. M., Van Nieuwenhuysen, E., Vega, A., Aguado-Barrera, M. E., Wang, Q., Webb, P. M., Weinberg, C. R., Weinstein, S., Weissler, M. C., Weitzel, J. N., West, C. M. L., White, E., Whittemore, A. S., Wichmann, H. E., Wiklund, F., Winqvist, R., Wolk, A., Woll, P., Woods, M., Wu, A. H., Wu, X., Yannoukakos, D., Zheng, W., Zienolddiny, S., Ziogas, A., Zorn, K. K., Lane, J. M., Saxena, R., Thomas, D., Hung, R. J., Diergaarde, B., McKay, J., Peters, U., Hsu, L., García-Closas, M., Eeles, R. A., Chenevix-Trench, G., Brennan, P. J., Haiman, C. A., Simard, J., Easton, D. F., Gruber, S. B., Pharoah, P. D. P., Price, A. L., Pasaniuc, B., Amos, C. I., Kraft, P. & Lindström, S., Dec 1 2019, In : Nature Communications. 10, 1, 431.

Research output: Contribution to journalArticle

cancer
Nucleic Acid Regulatory Sequences
Tumors
Neoplasms
Genes

Two truncating variants in FANCC and breast cancer risk

ABCTB Investigators & NBCS Collaborators, Dec 1 2019, In : Scientific reports. 9, 1, 12524.

Research output: Contribution to journalArticle

Open Access
Fanconi Anemia
Breast Neoplasms
Mutation
Genes
Neoplasm Genes
2018
6 Citations (Scopus)
Male Breast Neoplasms
Breast Neoplasms
Rare Diseases
Therapeutics
15 Citations (Scopus)

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

Guidugli, L., Shimelis, H., Masica, D. L., Pankratz, V. S., Lipton, G. B., Singh, N., Hu, C., Monteiro, A. N. A., Lindor, N. M., Goldgar, D. E., Karchin, R., Iversen, E. S. & Couch, F. J., Jan 1 2018, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Virulence
Homologous Recombination
Endophenotypes
Recombinational DNA Repair
DNA
55 Citations (Scopus)

Association between inherited germline mutations in cancer predisposition genes and risk of pancreatic cancer

Hu, C., Hart, S., Polley, E., Gnanaolivu, R., Shimelis, H., Lee, K. Y., Lilyquist, J., Na, J., Moore, R., Antwi, S., Bamlet, W. R., Chaffee, K. G., DiCarlo, J., Wu, Z., Samara, R., Kasi, P. M., Mc Williams, R. R., Petersen, G. M. & Couch, F. J., Jun 19 2018, In : JAMA - Journal of the American Medical Association. 319, 23, p. 2401-2409 9 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Neoplasm Genes
Pancreatic Neoplasms
Odds Ratio
Exome
8 Citations (Scopus)

A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

Lu, Y., Beeghly-Fadiel, A., Wu, L., Guo, X., Li, B., Schildkraut, J. M., Im, H. K., Chen, Y. A., Permuth, J. B., Reid, B. M., Teer, J. K., Moysich, K. B., Andrulis, I. L., Anton-Culver, H., Arun, B. K., Bandera, E. V., Barkardottir, R. B., Barnes, D. R., Benitez, J., Bjorge, L. & 124 others, Brenton, J., Butzow, R., Caldes, T., Caligo, M. A., Campbell, I., Chang-Claude, J., Claes, K. B. M., Couch, F. J., Cramer, D. W., Daly, M. B., DeFazio, A., Dennis, J., Diez, O., Domchek, S. M., D rk, T., Easton, D. F., Eccles, D. M., Fasching, P. A., Fortner, R. E. T., Fountzilas, G., Friedman, E., Ganz, P. A., Garber, J., Giles, G. G., Godwin, A. K., Goldgar, D. E., Goodman, M. T., Greene, M. H., Gronwald, J., Hamann, U., Heitz, F., Hildebrandt, M. A. T., Høgdall, C. K., Hollestelle, A., Hulick, P. J., Huntsman, D. G., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Karlan, B. Y., Kelemen, L. E., Kiemeney, L. A., Kjaer, S. K., Kwong, A., Le, N. D., Leslie, G., Lesueur, F., Levine, D. A., Mattiello, A., May, T., McGuffog, L., McNeish, I. A., Merritt, M. A., Modugno, F., Montagna, M., Neuhausen, S. L., Nevanlinna, H., Nielsen, F. C., Nikitina-Zake, L., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, S. H., Olsson, H. K., Osorio, A., Park, S. K., Parsons, M. T., Peeters, P. H. M., Pejovic, T., Peterlongo, P., Phelan, C. M., Pujana, M. A., Ramus, S. J., Rennert, G., Risch, H., Rodriguez, G. C., Rodríguez-Antona, C., Romieu, I., Rookus, M. A., Rossing, M. A., Rzepecka, I. K., Sandler, D. P., Schmutzler, R. K., Setiawan, V. W., Sharma, P., Sieh, W., Simard, J., Singer, C. F., Song, H., Southey, M. C., Spurdle, A. B., Sutphen, R., Swerdlow, A. J., Teixeira, M. R., Teo, S. H., Thomassen, M., Tischkowitz, M., Toland, A. E., Trichopoulou, A., Tung, N., Tworoger, S. S., Van Rensburg, E. J., Vanderstichele, A., Vega, A., Edwards, D. V., Webb, P. M., Weitzel, J. N., Wentzensen, N., White, E., Wolk, A., Wu, A. H., Yannoukakos, D., Zorn, K. K., Gayther, S. A., Antoniou, A. C., Berchuck, A., Goode, E. L., Chenevix-Trench, G., Sellers, T. A., Pharoah, P. D. P., Zheng, W. & Long, J., Sep 15 2018, In : Cancer Research. 78, 18, p. 5419-5430 12 p.

Research output: Contribution to journalArticle

Transcriptome
Genome-Wide Association Study
Genes
Ovarian epithelial cancer
RNA Sequence Analysis
18 Citations (Scopus)

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Wu, L., Shi, W., Long, J., Guo, X., Michailidou, K., Beesley, J., Bolla, M. K., Shu, X. O., Lu, Y., Cai, Q., Al-Ejeh, F., Rozali, E., Wang, Q., Dennis, J., Li, B., Zeng, C., Feng, H., Gusev, A., Barfield, R. T., Andrulis, I. L. & 190 others, Anton-Culver, H., Arndt, V., Aronson, K. J., Auer, P. L., Barrdahl, M., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brenner, H., Brinton, L., Broberg, P., Brucker, S. Y., Burwinkel, B., Caldés, T., Canzian, F., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chen, X., Cheng, T. Y. D., Christiansen, H., Clarke, C. L., Collée, M., Cornelissen, S., Couch, F. J., Cox, D., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Devilee, P., Doheny, K. F., Dörk, T., Dos-Santos-Silva, I., Dumont, M., Dwek, M., Eccles, D. M., Eilber, U., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Fritschi, L., Gabrielson, M., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., Gaudet, M. M., Ghoussaini, M., Giles, G. G., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Guénel, P., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hallberg, E., Hamann, U., Harrington, P., Hein, A., Hicks, B., Hillemanns, P., Hollestelle, A., Hoover, R. N., Hopper, J. L., Huang, G., Humphreys, K., Hunter, D. J., Jakubowska, A., Janni, W., John, E. M., Johnson, N., Jones, K., Jones, M. E., Jung, A., Kaaks, R., Kerin, M. J., Khusnutdinova, E., Kosma, V. M., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Li, J., Lindström, S., Lissowska, J., Lo, W. Y., Loibl, S., Lubinski, J., Luccarini, C., Lux, M. P., MacInnis, R. J., Maishman, T., Kostovska, I. M., Mannermaa, A., Manson, J. A. E., Margolin, S., Mavroudis, D., Meijers-Heijboer, H., Meindl, A., Menon, U., Meyer, J., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Nielsen, S. F., Nordestgaard, B. G., Olopade, O. I., Olson, J. E., Olsson, H., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prentice, R., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rennert, G., Rennert, H. S., Rhenius, V., Romero, A., Romm, J., Rudolph, A., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Scott, R. J., Scott, C. G., Seal, S., Shah, M., Shrubsole, M. J., Smeets, A., Southey, M. C., Spinelli, J. J., Stone, J., Surowy, H., Swerdlow, A. J., Tamimi, R. M., Tapper, W., Taylor, J. A., Terry, M. B., Tessier, D. C., Thomas, A., Thöne, K., Tollenaar, R. A. E. M., Torres, D., Truong, T., Untch, M., Vachon, C. M., Van Den Berg, D., Vincent, D., Waisfisz, Q., Weinberg, C. R., Wendt, C., Whittemore, A. S., Wildiers, H., Willett, W. C., Winqvist, R., Wolk, A., Xia, L., Yang, X. R., Ziogas, A., Ziv, E., Dunning, A. M., Pharoah, P. D. P., Simard, J., Milne, R. L., Edwards, S. L., Kraft, P., Easton, D. F., Chenevix-Trench, G. & Zheng, W., Jul 1 2018, In : Nature Genetics. 50, 7, p. 968-978 11 p.

Research output: Contribution to journalArticle

Transcriptome
Breast Neoplasms
Genes
Gene Expression
Atlases
21 Citations (Scopus)

BRCA1/2 Mutations and bevacizumab in the neoadjuvant treatment of breast cancer: Response and prognosis results in patients with triple-negative breast cancer From the geparquinto study

Fasching, P. A., Loibl, S., Hu, C., Hart, S., Shimelis, H., Moore, R., Schem, C., Tesch, H., Untch, M., Hilfrich, J., Rezai, M., Gerber, B., Costa, S. D., Blohmer, J. U., Fehm, T., Huober, J., Liedtke, C., Weinshilboum, R. M., Wang, L. M., Ingle, J. N. & 7 others, Müller, V., Nekljudova, V., Weber, K. E., Rack, B., Rübner, M., Von Minckwitz, G. & Couch, F. J., Aug 1 2018, In : Journal of Clinical Oncology. 36, 22, p. 2281-2287 7 p.

Research output: Contribution to journalArticle

Triple Negative Breast Neoplasms
Neoadjuvant Therapy
Breast Neoplasms
Mutation
Disease-Free Survival
9 Citations (Scopus)

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

BRCA Challenge Authors, Dec 1 2018, In : PLoS Genetics. 14, 12, e1007752.

Research output: Contribution to journalArticle

Databases
genetic variation
resource
Information Dissemination
imidazole mustard
3 Citations (Scopus)

Cancer susceptibility gene mutations in type I and II endometrial cancer

Long, B., Lilyquist, J., Weaver, A., Hu, C., Gnanaolivu, R., Lee, K. Y., Hart, S., Polley, E., Bakkum-Gamez, J. N., Couch, F. J. & Dowdy, S. C., Jan 1 2018, (Accepted/In press) In : Gynecologic Oncology.

Research output: Contribution to journalArticle

Neoplasm Genes
Endometrial Neoplasms
Mutation
Uterine Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
2 Citations (Scopus)

Cardiovascular Concerns in BRCA1 and BRCA2 Mutation Carriers

Gast, K. C., Viscuse, P. V., Nowsheen, S., Haddad, T. C., Mutter, R., Wahner Hendrickson, A. E., Couch, F. J. & Ruddy, K. J., Feb 1 2018, In : Current Treatment Options in Cardiovascular Medicine. 20, 2, 18.

Research output: Contribution to journalReview article

Mutation
Radiotherapy
Thorax
Guidelines
Drug Therapy
9 Citations (Scopus)

Clinical testing of BRCA1 and BRCA2: A worldwide snapshot of technological practices

Toland, A. E., Forman, A., Couch, F. J., Culver, J. O., Eccles, D. M., Foulkes, W. D., Hogervorst, F. B. L., Houdayer, C., Levy-Lahad, E., Monteiro, A. N., Neuhausen, S. L., Plon, S. E., Sharan, S. K., Spurdle, A. B., Szabo, C. & Brody, L. C., Dec 1 2018, In : npj Genomic Medicine. 3, 1, 7.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Technology
International Agencies
Patents
Neoplasm Genes
1 Citation (Scopus)

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Lee, K., Seifert, B. A., Shimelis, H., Ghosh, R., Crowley, S. B., Carter, N. J., Doonanco, K., Foreman, A. K., Ritter, D. I., Jimenez, S., Trapp, M., Offit, K., Plon, S. E. & Couch, F. J., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Breast Neoplasms
Genes
Breast
Genome
15 Citations (Scopus)

Common genetic variation and breast cancer Risk—Past, present, and future

Lilyquist, J., Ruddy, K. J., Vachon, C. M. & Couch, F. J., Apr 1 2018, In : Cancer Epidemiology Biomarkers and Prevention. 27, 4, p. 380-394 15 p.

Research output: Contribution to journalEditorial

Breast Neoplasms
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genes
Mutation
4 Citations (Scopus)

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Hart, S., Hoskin, T., Shimelis, H., Moore, R. M., Feng, B., Thomas, A., Lindor, N. M., Polley, E., Goldgar, D. E., Iversen, E., Monteiro, A. N. A., Suman, V. J. & Couch, F. J., Jun 8 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-10 10 p.

Research output: Contribution to journalArticle

Politics
Computer Simulation
Area Under Curve
BRCA2 Protein
Confidence Intervals

Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients

Augusto, B., Kasting, M. L., Couch, F. J., Lindor, N. M. & Vadaparampil, S. T., Jun 7 2018, (Accepted/In press) In : Journal of Immigrant and Minority Health. p. 1-4 4 p.

Research output: Contribution to journalArticle

Genetic Services
Genetic Counseling
Hispanic Americans
Neoplasms
Communication Barriers
1 Citation (Scopus)

Does mammographic density mediate risk factor associations with breast cancer? An analysis by tumor characteristics

Rice, M. S., Tamimi, R. M., Bertrand, K. A., Scott, C. G., Jensen, M. R., Norman, A. D., Visscher, D. W., Chen, Y. Y., Brandt, K. R., Couch, F. J., Shepherd, J. A., Fan, B., Wu, F. F., Ma, L., Collins, L. C., Cummings, S. R., Kerlikowske, K. & Vachon, C. M., Mar 3 2018, (Accepted/In press) In : Breast Cancer Research and Treatment. p. 1-13 13 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Neoplasms
Breast
Birth Order
Parity
2 Citations (Scopus)

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium

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., Bolla, M. K., Brenner, H., Chang-Claude, J., Cora, R., Couch, F. J., Cuk, K., Devilee, P., Easton, D. F., Eccles, D. M., Eilber, U. & 32 others, Hartikainen, J. M., Heikkilä, P., Holleczek, B., Hooning, M. J., Jones, M., Keeman, R., Mannermaa, A., Martens, J. W. M., Muranen, T. A., Nevanlinna, H., Olson, J. E., Orr, N., Perez, J. I. A., Pharoah, P. D. P., Ruddy, K. J., Saum, K. U., Schoemaker, M. J., Seynaeve, C., Sironen, R., Smit, V. T. H. B. M., Swerdlow, A. J., Tengström, M., Thomas, A. S., Timmermans, A. M., Tollenaar, R. A. E. M., Troester, M. A., Van Asperen, C. J., Van Deurzen, C. H. M., Van Leeuwen, F. F., Van'T Veer, L. J., García-Closas, M. & Figueroa, J. D., Dec 1 2018, In : Scientific Reports. 8, 1, 6574.

Research output: Contribution to journalArticle

Cadherins
Survival Analysis
Breast Neoplasms
Odds Ratio
Confidence Intervals

Erratum: Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation (Nature communications (2014) 4 (4999))

Ghoussaini, M., Edwards, S. L., Michailidou, K., Nord, S., Cowper-Sal Lari, R., Desai, K., Kar, S., Hillman, K. M., Kaufmann, S., Glubb, D. M., Beesley, J., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Guo, Q., Schmidt, M. K., Shah, M., Luben, R., Brown, J. & 191 others, Czene, K., Darabi, H., Eriksson, M., Klevebring, D., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Lambrechts, D., Thienpont, B., Neven, P., Wildiers, H., Broeks, A., Van't Veer, L. J., Rutgers, E. J. T., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C. M., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Peto, J., Dos-Santos-Silva, I., Gibson, L., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Hall, P., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Benitez, J., Pilar Zamora, M., Perez, J. I. A., Menéndez, P., Shu, X. O., Lu, W., Gao, Y. T., Cai, Q., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Lee, D. S. C., Wong, T. Y., Hooning, M. J., Martens, J. W. M., Collée, J. M., van Deurzen, C. H. M., Hopper, J. L., Southey, M. C., Tsimiklis, H., Kapuscinski, M. K., Shen, C. Y., Wu, P. E., Yu, J. C., Chen, S. T., Alnæs, G. G., Borresen-Dale, A. L., Giles, G. G., Milne, R. L., McLean, C., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Buhari, S. A. B. S., Teo, Y. Y., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Brauch, H., Brüning, T., Koto, Y. D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Dörk, T., Bogdanova, N. V., Helbig, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Slager, S. L., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Hamann, U., Torres, D., Zheng, W., Long, J., Anton-Culver, H., Neuhausen, S. L., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C. S., González-Neira, A., Pita, G., Rosario Alonso, M., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., de Santiago, I., Carroll, J., Caldas, C., Brown, M. A., Lupien, M., Kristensen, V. N., Pharoah, P. D. P., Chenevix-Trench, G., French, J. D., Easton, D. F. & Dunning, A. M., Apr 10 2018, In : Nature Communications. 9, 1 p.

Research output: Contribution to journalComment/debate

loci
breast
cancer
communication
Breast Neoplasms
4 Citations (Scopus)

Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation

Abubakar, M., Chang-Claude, J., Ali, H. R., Chatterjee, N., Coulson, P., Daley, F., Blows, F., Benitez, J., Milne, R. L., Brenner, H., Stegmaier, C., Mannermaa, A., Rudolph, A., Sinn, P., Couch, F. J., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Figueroa, J., Lissowska, J. & 16 others, Hewitt, S., Hooning, M. J., Hollestelle, A., Foekens, R., Koppert, L. B., Bolla, M. K., Wang, Q., Jones, M. E., Schoemaker, M. J., Keeman, R., Easton, D. F., Swerdlow, A. J., Sherman, M. E., Sherman, M. E., Pharoah, P. D. & Garcia-Closas, M., Jan 1 2018, (Accepted/In press) In : International Journal of Cancer.

Research output: Contribution to journalArticle

Hormones
Breast Neoplasms
Neoplasms
Parity
Obesity
3 Citations (Scopus)

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

Pelttari, L. M., Shimelis, H., Toiminen, H., Kvist, A., Törngren, T., Borg, A., Blomqvist, C., Bützow, R., Couch, F. J., Aittomäki, K. & Nevanlinna, H., Jan 1 2018, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Breast Neoplasms
Mutation
Genes
Population Control
8 Citations (Scopus)

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Painter, J. N., O'Mara, T. A., Morris, A. P., Cheng, T. H. T., Gorman, M., Martin, L., Hodson, S., Jones, A., Martin, N. G., Gordon, S., Henders, A. K., Attia, J., McEvoy, M., Holliday, E. G., Scott, R. J., Webb, P. M., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Hein, A. & 56 others, Rübner, M., Hall, P., Czene, K., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I., Lambrechts, D., Amant, F., Annibali, D., Depreeuw, J., Vanderstichele, A., Goode, E. L., Cunningham, J. M., Dowdy, S. C., Winham, S. J., Trovik, J., Hoivik, E., Werner, H. M. J., Krakstad, C., Ashton, K., Otton, G., Proietto, T., Tham, E., Mints, M., Ahmed, S., Healey, C. S., Shah, M., Pharoah, P. D. P., Dunning, A. M., Dennis, J., Bolla, M. K., Michailidou, K., Wang, Q., Tyrer, J. P., Hopper, J. L., Peto, J., Swerdlow, A. J., Burwinkel, B., Brenner, H., Meindl, A., Brauch, H., Lindblom, A., Chang-Claude, J., Couch, F. J., Giles, G. G., Kristensen, V. N., Cox, A., Zondervan, K. T., Nyholt, D. R., MacGregor, S., Montgomery, G. W., Tomlinson, I., Easton, D. F., Thompson, D. J. & Spurdle, A. B., May 1 2018, In : Cancer Medicine. 7, 5, p. 1978-1987 10 p.

Research output: Contribution to journalArticle

Genetic Crosses
Inborn Genetic Diseases
Endometriosis
Endometrial Neoplasms
Meta-Analysis
24 Citations (Scopus)

Hormone replacement therapy after oophorectomy and breast cancer risk among BRCA1 mutation carriers

Hereditary Breast Cancer Clinical Study Group, Aug 1 2018, In : JAMA oncology. 4, 8, p. 1059-1065 7 p.

Research output: Contribution to journalArticle

Hormone Replacement Therapy
Ovariectomy
Breast Neoplasms
Mutation
Estrogens
10 Citations (Scopus)

Identification of nine new susceptibility loci for endometrial cancer

O’Mara, T. A., Glubb, D. M., Amant, F., Annibali, D., Ashton, K., Attia, J., Auer, P. L., Beckmann, M. W., Black, A., Bolla, M. K., Brauch, H., Brenner, H., Brinton, L., Buchanan, D. D., Burwinkel, B., Chang-Claude, J., Chanock, S. J., Chen, C., Chen, M. M., Cheng, T. H. T. & 105 others, Clarke, C. L., Clendenning, M., Cook, L. S., Couch, F. J., Cox, A., Crous-Bous, M., Czene, K., Day, F., Dennis, J., Depreeuw, J., Doherty, J. A., Dörk, T., Dowdy, S. C., Dürst, M., Ekici, A. B., Fasching, P. A., Fridley, B. L., Friedenreich, C. M., Fritschi, L., Fung, J., García-Closas, M., Gaudet, M. M., Giles, G. G., Goode, E. L., Gorman, M., Haiman, C. A., Hall, P., Hankison, S. E., Healey, C. S., Hein, A., Hillemanns, P., Hodgson, S., Hoivik, E. A., Holliday, E. G., Hopper, J. L., Hunter, D. J., Jones, A., Krakstad, C., Kristensen, V. N., Lambrechts, D., Marchand, L. L., Liang, X., Lindblom, A., Lissowska, J., Long, J., Lu, L., Magliocco, A. M., Martin, L., McEvoy, M., Meindl, A., Michailidou, K., Milne, R. L., Mints, M., Montgomery, G. W., Nassir, R., Olsson, H., Orlow, I., Otton, G., Palles, C., Perry, J. R. B., Peto, J., Pooler, L., Prescott, J., Proietto, T., Rebbeck, T. R., Risch, H. A., Rogers, P. A. W., Rübner, M., Runnebaum, I., Sacerdote, C., Sarto, G. E., Schumacher, F., Scott, R. J., Setiawan, V. W., Shah, M., Sheng, X., Shu, X. O., Southey, M. C., Swerdlow, A. J., Tham, E., Trovik, J., Turman, C., Tyrer, J. P., Vachon, C. M., VanDen Berg, D., Vanderstichele, A., Wang, Z., Webb, P. M., Wentzensen, N., Werner, H. M. J., Winham, S. J., Wolk, A., Xia, L., Xiang, Y. B., Yang, H. P., Yu, H., Zheng, W., Pharoah, P. D. P., Dunning, A. M., Kraft, P., De Vivo, I., Tomlinson, I., Easton, D. F., Spurdle, A. B. & Thompson, D. J., Dec 1 2018, In : Nature Communications. 9, 1, 3166.

Research output: Contribution to journalArticle

Endometrial Neoplasms
loci
Genes
cancer
magnetic permeability
20 Citations (Scopus)

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Rudolph, A., Song, M., Brook, M. N., Milne, R. L., Mavaddat, N., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Wilcox, A. N., Hopper, J. L., Southey, M. C., Keeman, R., Fasching, P. A., Beckmann, M. W., Gago-Dominguez, M., Castelao, J. E., Guénel, P., Truong, T., Bojesen, S. E. & 31 others, Flyger, H., Brenner, H., Arndt, V., Brauch, H., Brüning, T., Mannermaa, A., Kosma, V. M., Lambrechts, D., Keupers, M., Couch, F. J., Vachon, C. M., Giles, G. G., MacInnis, R. J., Figueroa, J., Brinton, L., Czene, K., Brand, J. S., Gabrielson, M., Humphreys, K., Cox, A., Cross, S. S., Dunning, A. M., Orr, N., Swerdlow, A., Hall, P., Pharoah, P. D. P., Schmidt, M. K., Easton, D. F., Chatterjee, N., Chang-Claude, J. & García-Closas, M., Apr 1 2018, In : International Journal of Epidemiology. 47, 2, p. 526-536 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Estrogen Receptors
Alcohol Drinking
Single Nucleotide Polymorphism
Logistic Models
1 Citation (Scopus)

Molecular mechanisms linking high body mass index to breast cancer etiology in post-menopausal breast tumor and tumor-adjacent tissues

Heng, Y. J., Wang, J., Ahearn, T. U., Brown, S. B., Zhang, X., Ambrosone, C. B., de Andrade, V. P., Brufsky, A. M., Couch, F. J., King, T. A., Modugno, F., Vachon, C. M., DuPre, N. C., Garcia-Closas, M., Troester, M. A., Hunter, D. J., Eliassen, A. H., Tamimi, R. M., Hankinson, S. E. & Beck, A. H., Jan 1 2018, (Accepted/In press) In : Breast Cancer Research and Treatment.

Research output: Contribution to journalArticle

Body Mass Index
Estrogen Receptors
Breast Neoplasms
Neoplasms
Genes
45 Citations (Scopus)

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

EMBRACE, GEMO Study Collaborators & HEBON, May 1 2018, In : Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journalArticle

Mutation
Population
Research Personnel
Germ-Line Mutation
Genetic Testing
6 Citations (Scopus)

The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers

the Hereditary Breast Cancer Clinical Study Group, Jun 1 2018, In : International Journal of Cancer. 142, 11, p. 2263-2272 10 p.

Research output: Contribution to journalArticle

Smoking
Mutation
Incidence
Neoplasms
Confidence Intervals
5 Citations (Scopus)

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

kConFab/AOCS Investigators, May 1 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

Calibration
Exons
Protein Isoforms
Neoplasms
Causality
16 Citations (Scopus)

The landscape of somatic genetic alterations in breast cancers from atm germline mutation carriers

Weigelt, B., Bi, R., Kumar, R., Blecua, P., Mandelker, D. L., Geyer, F. C., Pareja, F., James, P. A., Couch, F. J., Eccles, D. M., Blows, F., Pharoah, P., Li, A., Selenica, P., Lim, R. S., Jayakumaran, G., Waddell, N., Shen, R., Norton, L., Wen, H. Y. & 5 others, Powell, S. N., Riaz, N., Robson, M. E., Reis-Filho, J. S. & Chenevix-Trench, G., Sep 1 2018, In : Journal of the National Cancer Institute. 110, 9, p. 1030-1034 5 p.

Research output: Contribution to journalArticle

Ataxia Telangiectasia
Germ-Line Mutation
Breast Neoplasms
Exome
Recombinational DNA Repair