Fergus J Couch, PhD

Chair, Division of Experimental Pathology

  • 40564 Citations
  • 91 Scopus h-Index
1991 …2021

Research output per year

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Research Output

2020

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. C., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S. N., 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., Feb 1 2020, In : Genetics in Medicine. 22, 2, p. 407-415 9 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

Escala-Garcia, M., Abraham, J., Andrulis, I. L., Anton-Culver, H., Arndt, V., Ashworth, A., Auer, P. L., Auvinen, P., Beckmann, M. W., Beesley, J., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Børresen-Dale, A. L., Brauch, H. & 125 others, Brenner, H., Brucker, S. Y., Burwinkel, B., Caldas, C., Canzian, F., Chang-Claude, J., Chanock, S. J., Chin, S. F., Clarke, C. L., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Devilee, P., Dunn, J. A., Dunning, A. M., Dwek, M., Earl, H. M., Eccles, D. M., Eliassen, A. H., Ellberg, C., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Gago-Dominguez, M., Gapstur, S. M., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., George, A., Giles, G. G., Goldgar, D. E., González-Neira, A., Grip, M., Guénel, P., Guo, Q., Haiman, C. A., Håkansson, N., Hamann, U., Harrington, P. A., Hiller, L., Hooning, M. J., Hopper, J. L., Howell, A., Huang, C. S., Huang, G., Hunter, D. J., Jakubowska, A., John, E. M., Kaaks, R., Kapoor, P. M., Keeman, R., Kitahara, C. M., Koppert, L. B., Kraft, P., Kristensen, V. N., Lambrechts, D., Le Marchand, L., Lejbkowicz, F., Lindblom, A., Lubiński, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M. E., Maurer, T., Mavroudis, D., Meindl, A., Milne, R. L., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Newman, W. G., Olshan, A. F., Olson, J. E., Olsson, H., Orr, N., Peterlongo, P., Petridis, C., Prentice, R. L., Presneau, N., Punie, K., Ramachandran, D., Rennert, G., Romero, A., Sachchithananthan, M., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Schwentner, L., Scott, C., Simard, J., Sohn, C., Southey, M. C., Swerdlow, A. J., Tamimi, R. M., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thorne, H., Tollenaar, R. A. E. M., Tomlinson, I., Troester, M. A., Truong, T., Turnbull, C., Vachon, C. M., van der Kolk, L. E., Wang, Q., Winqvist, R., Wolk, A., Yang, X. R., Ziogas, A., Pharoah, P. D. P., Hall, P., Wessels, L. F. A., Chenevix-Trench, G., Bader, G. D., Dörk, T., Easton, D. F., Canisius, S. & Schmidt, M. K., Dec 1 2020, In : Nature communications. 11, 1, 312.

Research output: Contribution to journalArticle

Open Access

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittom, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J. & 239 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldes, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., De La Hoya, M., Della Puppa, L., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, B., Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadalo, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberan, V., Garre, P., Gauthier-Villars, M., Geczi, L., Gehrig, A., Gerdes, A. M., Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S. W., Kim, Z., Ko, K. P., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernandez, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Cilius Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K. R., Osorio, A., Ott, C. E., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A. B., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., Van Asperen, C. J., Van Der Baan, F. H., Van Der Kolk, L. E., Van Der Luijt, R. B., Van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstrate, J., Villa, R., Von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S. Y., Zanzottera, C., Zorn, K. K., D’Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., Feb 1 2020, In : Cancer research. 80, 3, p. 624-638 15 p.

Research output: Contribution to journalArticle

Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

Yang, X., Leslie, G., Doroszuk, A., Schneider, S., Allen, J., Decker, B., Dunning, A. M., Redman, J., Scarth, J., Plaskocinska, I., Luccarini, C., Shah, M., Pooley, K., Dorling, L., Leei, A., Adank, M. A., Adlard, J., Aittomäki, K., Andrulis, I. L., Ang, P. & 99 others, Barwell, J., Bernstein, J. L., Bobolis, K., Borg, Å., Blomqvist, C., Claes, K. B. M., Concannon, P., Cuggia, A., Culver, J. O., Damiola, F., De Pauw, A., Diez, O., Dolinsky, J. S., Domchek, S. M., Engel, C., Evans, D. G., Fostira, F., Garber, J., Golmard, L., Goode, E. L., Gruber, S. B., Hahnen, E., Hake, C., Heikkinen, T., Hurley, J. E., Janavicius, R., Kleibl, Z., Kleiblova, P., Konstantopoulou, I., Kvist, A., Laduca, H., Lee, A. S. G., Lesueur, F., Maher, E. R., Mannermaa, A., Manoukian, S., McFarland, R., McKinnon, W., Meindl, A., Metcalfe, K., Taib, N. A. M., Moilanen, J., Nathanson, K. L., Neuhausen, S., Ng, P. S., Nguyen-Dumont, T., Nielsen, S. M., Obermair, F., Offit, K., Olopade, O. I., Ottini, L., Penkert, J., Pylkäs, K., Radice, P., Ramus, S. J., Rudaitis, V., Side, L., Silva-Smith, R., Silvestri, V., Skytte, A. B., Slavin, T., Soukupova, J., Tondini, C., Trainer, A. H., Unzeitig, G., Usha, L., Van Overeem Hansen, T., Whitworth, J., Wood, M., Yip, C. H., Yoon, S. Y., Yussuf, A., Zogopoulos, G., Goldgar, D., Hopper, J. L., Chenevix-Trench, G., Pharoah, P., George, S. H. L., Balmaña, J., Houdayer, C., James, P., El-Haffaf, Z., Ehrencrona, H., Janatova, M., Peterlongo, P., Nevanlinna, H., Schmutzler, R., Teo, S. H., Robson, M., Pal, T., Couch, F., Weitzel, J. N., Elliott, A., Southey, M., Winqvist, R., Easton, D. F., Foulkes, W. D., Antoniou, A. C. & Tischkowitz, M., Mar 1 2020, In : Journal of Clinical Oncology. 38, 7, p. 674-685 12 p.

Research output: Contribution to journalArticle

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

Li, H., LaDuca, H., Pesaran, T., Chao, E. C., Dolinsky, J. S., Parsons, M., Spurdle, A. B., Polley, E. C., Shimelis, H., Hart, S. N., Hu, C., Couch, F. J. & Goldgar, D. E., Apr 1 2020, In : Genetics in Medicine. 22, 4, p. 701-708 8 p.

Research output: Contribution to journalArticle

Open Access

Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer

Yadav, S., Hu, C., Hart, S. N., Boddicker, N., Polley, E. C., Na, J., Gnanaolivu, R., Lee, K. Y., Lindstrom, T., Armasu, S., Fitz-Gibbon, P., Ghosh, K., Stan, D. L., Pruthi, S., Neal, L., Sandhu, N., Rhodes, D. J., Klassen, C., Peethambaram, P. P., Haddad, T. C. & 7 others, Olson, J. E., Hoskin, T. L., Goetz, M. P., Domchek, S. M., Boughey, J. C., Ruddy, K. J. & Couch, F. J., May 1 2020, In : Journal of Clinical Oncology. 38, 13, p. 1409-1418 10 p.

Research output: Contribution to journalArticle

Open Access

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, KConFab investigators & HEBON Investigators, Jan 1 2020, In : Nature Genetics. 52, 1, p. 56-73 18 p.

Research output: Contribution to journalArticle

Folate receptor alpha expression associates with improved disease-free survival in triple negative breast cancer patients

Norton, N., Youssef, B., Hillman, D. W., Nassar, A., Geiger, X. J., Necela, B. M., Liu, H., Ruddy, K. J., Polley, M. Y. C., Ingle, J. N., Couch, F. J., Perez, E. A., Liu, M. C., Carter, J. M., Leon-Ferre, R. A., Boughey, J. C., Somers, E. B., Kalari, K. R., Visscher, D. W., Goetz, M. P. & 1 others, Knutson, K. L., Dec 1 2020, In : npj Breast Cancer. 6, 1, 4.

Research output: Contribution to journalArticle

Open Access

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

Hart, S. N., Polley, E. C., Shimelis, H., Yadav, S. & Couch, F. J., Dec 1 2020, In : npj Breast Cancer. 6, 1, 13.

Research output: Contribution to journalArticle

Open Access

Real-world experiences with acupuncture among breast cancer survivors: a cross-sectional survey study

Zayas, J., Ruddy, K. J., Olson, J. E., Couch, F. J., Bauer, B. A., Mallory, M. J., Yang, P., Zahrieh, D., Athreya, A. P., Loprinzi, C. L. & Cathcart-Rake, E. J., Jan 1 2020, (Accepted/In press) In : Supportive Care in Cancer.

Research output: Contribution to journalArticle

Reply to On the proportion of male breast cancer among all breast cancers

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 2020, In : Cancer. 126, 9, p. 2034-2035 2 p.

Research output: Contribution to journalLetter

Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA

Advisors, STRIVE investigators & GRAIL, Inc., Jun 2020, In : Annals of Oncology. 31, 6, p. 745-759 15 p.

Research output: Contribution to journalArticle

Open Access

The association of modifiable breast cancer risk factors and somatic genomic alterations in breast tumors: The cancer genome atlas network

Heng, Y. J., Hankinson, S. E., Wang, J., Alexandrov, L. B., Ambrosone, C. B., de Andrade, V. P., Brufsky, A. M., Couch, F. J., King, T. A., Modugno, F., Vachon, C. M., Heather Eliassen, A., Tamimi, R. M. & Kraft, P., Jan 1 2020, In : Cancer Epidemiology Biomarkers and Prevention. 29, 3, p. 599-605 7 p.

Research output: Contribution to journalArticle

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

ABCTB Investigators, HEBON Investigators, BCFR Investigators, OCGN Investigators, GEMO Study Collaborators, EMBRACE Collaborators & GC-HBOC Study Collaborators, Jan 1 2020, (Accepted/In press) In : Genetic epidemiology.

Research output: Contribution to journalArticle

Open Access

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: Best practices in functional analysis for clinical annotation

Monteiro, A. N., Bouwman, P., Kousholt, A. N., Eccles, D. M., Millot, G. A., Masson, J. Y., Schmidt, M. K., Sharan, S. K., Scully, R., Wiesmüller, L., Couch, F. & Vreeswijk, M. P. G., Jan 1 2020, (Accepted/In press) In : Journal of medical genetics. 106368.

Research output: Contribution to journalReview article

2019

Accuracy of self-reported cancer treatment data in young breast cancer survivors

Gast, K. C., Cathcart-Rake, E. J., Norman, A., Eshraghi, L., Obidegwu, N., Couch, F., Vachon, C. & Ruddy, K. J., Dec 1 2019, In : Journal of Patient-Reported Outcomes. 3, 1, 24.

Research output: Contribution to journalArticle

Open Access

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

1 Scopus citations

Correction to: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers (European Journal of Human Genetics, (2017), 25, 4, (432-438), 10.1038/ejhg.2016.203)

BCFR, EMBRACE, GEMO Study Collaborators, HEBON & KConFab investigators, Jan 1 2019, In : European Journal of Human Genetics. 27, 1, p. 167-168 2 p.

Research output: Contribution to journalComment/debate

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

Boonen, R. A. C. M., Rodrigue, A., Stoepker, C., Wiegant, W. W., Vroling, B., Sharma, M., Rother, M. B., Celosse, N., Vreeswijk, M. P. G., Couch, F., Simard, J., Devilee, P., Masson, J. Y. & van Attikum, H., Dec 1 2019, In : Nature communications. 10, 1, 5296.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

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

2 Scopus citations

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

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

6 Scopus citations

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
6 Scopus citations

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
5 Scopus citations

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, Jan 1 2019, In : Journal of the National Cancer Institute. 111, 4, p. 350-364 15 p.

Research output: Contribution to journalArticle

3 Scopus citations

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
7 Scopus citations

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

2 Scopus citations

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
2 Scopus citations

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., Apr 12 2019, In : Journal of Biological Chemistry. 294, 15, p. 5980-5992 13 p.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

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., 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. C., 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
3 Scopus citations

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
8 Scopus citations

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

5 Scopus citations

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

2 Scopus citations

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., Feb 15 2019, In : Breast Cancer Research and Treatment. 173, 3, p. 667-677 11 p.

Research output: Contribution to journalArticle

5 Scopus citations

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

2 Scopus citations

Patients' medical and psychosocial experiences after detection of a CDH1 variant with multigene panel testing

Hamilton, J. G., Long, J. M., Brandt, A. C., Brower, J., Symecko, H., Salo-Mullen, E. E., Christian, S. N., Harstad, T., Couch, F. J., Garber, J. E., Offit, K., Robson, M. E. & Domchek, S. M., Jan 1 2019, In : JCO Precision Oncology. 3, p. 1-14 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

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

80 Scopus citations

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

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Brnich, S. E., Abou Tayoun, A. N., Couch, F. J., Cutting, G. R., Greenblatt, M. S., Heinen, C. D., Kanavy, D. M., Luo, X., McNulty, S. M., Starita, L. M., Tavtigian, S. V., Wright, M. W., Harrison, S. M., Biesecker, L. G., Berg, J. S., Abou Tayoun, A. N., Berg, J. S., Biesecker, L. G., Brenner, S. E., Cutting, G. R. & 12 others, Ellard, S., Greenblatt, M. S., Harrison, S. M., Karbassi, I., Karchin, R., Mester, J. L., O'Donnell-Luria, A., Pesaran, T., Plon, S. E., Rehm, H., Tavtigian, S. V. & Topper, S., Dec 31 2019, In : Genome medicine. 12, 1, 3.

Research output: Contribution to journalReview article

Open Access

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

1 Scopus citations

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

11 Scopus citations

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

ABCTB Investigators, GEMO Study Collaborators & KConFab, Dec 1 2019, In : npj Breast Cancer. 5, 1, 38.

Research output: Contribution to journalArticle

Open Access

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
1 Scopus citations
2018
9 Scopus citations

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

21 Scopus citations

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

74 Scopus citations

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

10 Scopus citations

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., 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

27 Scopus citations

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. N., 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., 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

27 Scopus citations

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

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

Research output: Contribution to journalArticle

25 Scopus citations