Fergus J Couch, PhD

Chair, Division of Experimental Pathology

  • 37340 Citations
  • 87 Scopus h-Index
1991 …2021
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1991 2019

Filter
Article
2019

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

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

Ruddy, K. J., Schaid, D. J., Partridge, A. H., Larson, N., 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. M., Weinshilboum, R. M., Couch, F. J. & 4 others, Janni, W., Rack, B., Vachon, C. M. & 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
1 Citation (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

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

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
Multiplex Polymerase Chain Reaction
Genetic Testing
Libraries
Screening
Costs and Cost Analysis
2 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

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

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
29 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
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
5 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
2018
5 Citations (Scopus)
Male Breast Neoplasms
Breast Neoplasms
Rare Diseases
Therapeutics
13 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
39 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
6 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
13 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
19 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
7 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
2 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
8 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

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
2 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

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

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
2 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
2 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
5 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
18 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
7 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
17 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

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
36 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
5 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
4 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
13 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
28 Citations (Scopus)

Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing

Shimelis, H., LaDuca, H., Hu, C., Hart, S., Na, J., Thomas, A., Akinhanmi, M., Moore, R. M., Brauch, H., Cox, A., Eccles, D. M., Ewart-Toland, A., Fasching, P. A., Fostira, F., Garber, J., Godwin, A. K., Konstantopoulou, I., Nevanlinna, H., Sharma, P., Yannoukakos, D. & 9 others, Yao, S., Feng, B. J., Davis, B. T., Lilyquist, J., Pesaran, T., Goldgar, D. E., Polley, E., Dolinsky, J. S. & Couch, F. J., Jan 1 2018, In : Journal of the National Cancer Institute. 110, 8, p. 855-862 8 p.

Research output: Contribution to journalArticle

Triple Negative Breast Neoplasms
Neoplasm Genes
Odds Ratio
Neoplasms
Breast Neoplasms
2017
5 Citations (Scopus)

Alcohol consumption and breast tumor gene expression

Wang, J., Heng, Y. J., Eliassen, A. H., Tamimi, R. M., Hazra, A., Carey, V. J., Ambrosone, C. B., de Andrade, V. P., Brufsky, A., Couch, F. J., King, T. A., Modugno, F., Vachon, C. M., Hunter, D. J., Beck, A. H. & Hankinson, S. E., Sep 12 2017, In : Breast Cancer Research. 19, 1, 108.

Research output: Contribution to journalArticle

Alcohol Drinking
Estrogen Receptors
Breast Neoplasms
Gene Expression
Neoplasms
150 Citations (Scopus)

Association analysis identifies 65 new breast cancer risk loci

NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, Nov 2 2017, In : Nature. 551, 7678, p. 92-94 3 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Genes
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genetic Predisposition to Disease
7 Citations (Scopus)

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

KConFab investigators, HEBON, GEMO Study Collaborators & EMBRACE, Jan 1 2017, In : Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

Research output: Contribution to journalArticle

Heterozygote
Single Nucleotide Polymorphism
Breast Neoplasms
Mutation
Estrogen Receptors
129 Citations (Scopus)

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

Couch, F. J., Shimelis, H., Hu, C., Hart, S., Polley, E., Na, J., Hallberg, E., Moore, R., Thomas, A., Lilyquist, J., Feng, B., McFarland, R., Pesaran, T., Huether, R., LaDuca, H., Chao, E. C., Goldgar, D. E. & Dolinsky, J. S., Sep 1 2017, In : JAMA oncology. 3, 9, p. 1190-1196 7 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Neoplasm Genes
Genes
Neoplasms
Genetic Testing
5 Citations (Scopus)

Body mass index and breast cancer survival: A Mendelian randomization analysis

kConFab/AOCS Investigators, Dec 1 2017, In : International Journal of Epidemiology. 46, 6, p. 1891-1902 12 p.

Research output: Contribution to journalArticle

Mendelian Randomization Analysis
Body Mass Index
Breast Neoplasms
Survival
Estrogen Receptors
14 Citations (Scopus)

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

kConFab/AOCS Investigators & NBCS Collaborators, Jun 1 2017, In : Cancer Research. 77, 11, p. 2789-2799 11 p.

Research output: Contribution to journalArticle

Breast Neoplasms
BRCA2 Gene
BRCA1 Gene
Risk Management
Case-Control Studies
9 Citations (Scopus)

Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer

the PRACTICAL Consortium, the COGS-CRUK GWAS, the BCAC Consortium, the TRICL Consortium, Mar 31 2017, In : BMC Genomics. 18, 1, 270.

Research output: Contribution to journalArticle

Disease Susceptibility
Single Nucleotide Polymorphism
Prostatic Neoplasms
Breast Neoplasms
Epigenomics
16 Citations (Scopus)

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

Welsh, J. L., Hoskin, T. L., Day, C. N., Thomas, A. S., Cogswell, J. A., Couch, F. J. & Boughey, J. C., Aug 1 2017, (Accepted/In press) In : Annals of Surgical Oncology. p. 1-6 6 p.

Research output: Contribution to journalArticle

BRCA2 Gene
BRCA1 Gene
Breast Neoplasms
Neoplasms
Chi-Square Distribution
6 Citations (Scopus)

Evaluation and adaptation of a laboratory-based cDNA library preparation protocol for retrospective sequencing of archived microRNAs from up to 35-year-old clinical FFPE specimens

Loudig, O., Wang, T., Ye, K., Lin, J., Wang, Y., Ramnauth, A., Liu, C., Stark, A., Chitale, D., Greenlee, R., Multerer, D., Honda, S., Daida, Y., Feigelson, H. S., Glass, A., Couch, F. J., Rohan, T. & Ben-Dov, I. Z., Mar 14 2017, In : International Journal of Molecular Sciences. 18, 3, 627.

Research output: Contribution to journalArticle

sequencing
paraffins
MicroRNAs
Gene Library
Formaldehyde
7 Citations (Scopus)

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

Walker, L. C., Marquart, L., Pearson, J. F., Wiggins, G. A. R., O'Mara, T. A., Parsons, M. T., Barrowdale, D., McGuffog, L., Dennis, J., Benitez, J., Slavin, T. P., Radice, P., Frost, D., Godwin, A. K., Meindl, A., Schmutzler, R. K., Isaacs, C., Peshkin, B. N., Caldes, T., Hogervorst, F. B. L. & 14 others, Lazaro, C., Jakubowska, A., Montagna, M., Chen, X., Offit, K., Hulick, P. J., Andrulis, I. L., Lindblom, A., Nussbaum, R. L., Nathanson, K. L., Chenevix-Trench, G., Antoniou, A. C., Couch, F. J. & Spurdle, A. B., Apr 1 2017, In : European Journal of Human Genetics. 25, 4, p. 432-438 7 p.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Breast Neoplasms
Genome-Wide Association Study
Single Nucleotide Polymorphism
Overlapping Genes
49 Citations (Scopus)

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, K. B., McGuffog, L., Barrowdale, D., Lee, A., Soucy, P., Dennis, J., Domchek, S. M., Robson, M., Spurdle, A. B., Ramus, S. J., Mavaddat, N., Terry, M. B., Neuhausen, S. L., Schmutzler, R. K., Simard, J., Pharoah, P. D. P., Offit, K., Couch, F. J., Chenevix-Trench, G., Easton, D. F. & 1 others, Slager, S. L., Jul 1 2017, In : Journal of the National Cancer Institute. 109, 7, djw302.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Breast Neoplasms
Mutation
Estrogen Receptors
Genome-Wide Association Study