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  • Fergus J Couch
2016

A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer

Vijai, J., Topka, S., Villano, D., Ravichandran, V., Maxwell, K. N., Maria, A., Thomas, T., Gaddam, P., Lincoln, A., Kazzaz, S., Wenz, B., Carmi, S., Schrader, K. A., Hart, S. N., Lipkin, S. M., Neuhausen, S. L., Walsh, M. F., Zhang, L., Lejbkowicz, F., Rennert, H. & 10 others, Stadler, Z. K., Robson, M., Weitzel, J. N., Domchek, S., Daly, M. J., Couch, F. J., Nathanson, K. L., Norton, L., Rennert, G. & Offit, K., Nov 2016, In : Cancer discovery. 6, 11, p. 1267-1275 9 p.

Research output: Contribution to journalArticle

17 Scopus citations

Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation

Gronwald, J., Glass, K., Rosen, B., Karlan, B., Tung, N., Neuhausen, S. L., Moller, P., Ainsworth, P., Sun, P., Narod, S. A., Lubinski, J., Kotsopoulos, J., Lynch, H. T., Cybulski, C., Kim-Sing, C., Friedman, S., Senter, L., Weitzel, J., Singer, C., Eng, C. & 60 others, Mitchell, G., Huzarski, T., McCuaig, J., Eisen, A., Gilchrist, D., Blum, J. L., Zakalik, D., Pal, T., Daly, M., Weber, B., Snyder, C., Fallen, T., Chudley, A., Lunn, J., Donenberg, T., Kurz, R. N., Saal, H., Garber, J., Rennert, G., Sweet, K., Rappaport, C., Lemire, E., Stoppa-Lyonnet, D., Olopade, O. I., Merajver, S., Bordeleau, L., Cullinane, C. A., Friedman, E., McKinnon, W., Wood, M., Rayson, D., Meschino, W., Costalas, J. W., Reilly, R. E., Vadaparampil, S., Offit, K., Kauff, N., Euhus, D., Kwong, A., Isaacs, C., Couch, F. J., Manoukian, S., Byrski, T., Elser, C., Panchal, S., Armel, S., Demsky, R., Nanda, S., Metcalfe, K., Poll, A., Foulkes, W. D., Robidoux, A., Warner, E., Maehle, L., Evans, G., Pasini, B., Ginsburg, O., Cohen, S., Jakubowska, A. & Little, J., Mar 1 2016, In : Fertility and Sterility. 105, 3, p. 781-785 5 p.

Research output: Contribution to journalArticle

14 Scopus citations
2019

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
2017

Traceback: A proposed framework to increase identification and genetic counseling of BRCA1 and BRCA2 mutation carriers through family-based outreach

Samimi, G., Caga-Anan, C. F., Dean, M., Mechanic, L. E., Minasian, L. M., Sherman, M. E., Brody, L. C., Bernardini, M. Q., Lheureux, S., Shaw, P. A., Kwon, J. S., Campbell, I. G., James, P. A., Takenaka, M., Bowtell, D. D., Chenevix-Trench, G., Friedlander, M., Ramus, S. J., Couch, F. J., De Hullu, J. A. & 13 others, Harmsen, M. G., Domchek, S. M., Drapkin, R., Mai, P. L., Feigelson, H. S., Gaudet, M. M., Hurley, K., Robson, M. E., Lacbawan, F., Slavin, T. P., Myers, E. R., Rezende, L. F. & Swisher, E. M., Jul 10 2017, In : Journal of Clinical Oncology. 35, 20, p. 2329-2337 9 p.

Research output: Contribution to journalArticle

23 Scopus citations
2018

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

9 Scopus citations
2019

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
1 Scopus citations

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
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
2017

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

Kadalayil, L., Khan, S., Nevanlinna, H., Fasching, P. A., Couch, F. J., Hopper, J. L., Liu, J., Maishman, T., Durcan, L., Gerty, S., Blomqvist, C., Rack, B., Janni, W., Collins, A., Eccles, D. & Tapper, W., Dec 1 2017, In : Nature Communications. 8, 1, 1632.

Research output: Contribution to journalArticle

6 Scopus citations
2018

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

7 Scopus citations
2016

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Maxwell, K. N., Hart, S. N., Vijai, J., Schrader, K. A., Slavin, T. P., Thomas, T., Wubbenhorst, B., Ravichandran, V., Moore, R. M., Hu, C., Guidugli, L., Wenz, B., Domchek, S. M., Robson, M. E., Szabo, C., Neuhausen, S. L., Weitzel, J. N., Offit, K., Couch, F. J. & Nathanson, K. L., May 5 2016, In : American journal of human genetics. 98, 5, p. 801-817 17 p.

Research output: Contribution to journalArticle

50 Scopus citations
2019

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
2018

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

3 Scopus citations
2016

Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

Hart, S., Maxwell, K. N., Thomas, T., Ravichandran, V., Wubberhorst, B., Klein, R. J., Schrader, K., Szabo, C., Weitzel, J. N., Neuhausen, S. L., Nathanson, K., Offit, K., Couch, F. J. & Vijai, J., Jul 1 2016, In : Briefings in Bioinformatics. 17, 4, p. 672-677 6 p., bbv075.

Research output: Contribution to journalArticle

2 Scopus citations
2018

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

25 Scopus citations
2016

Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

Sung, H., Garcia-Closas, M., Chang-Claude, J., Blows, F. M., Ali, H. R., Figueroa, J., Nevanlinna, H., Fagerholm, R., Heikkilä, P., Blomqvist, C., Giles, G. G., Milne, R. L., Southey, M. C., McLean, C., Mannermaa, A., Kosma, V. M., Kataja, V., Sironen, R., Couch, F. J., Olson, J. E. & 16 others, Hallberg, E., Olswold, C., Cox, A., Cross, S. S., Kraft, P., Tamimi, R. M., Eliassen, A. H., Schmidt, M. K., Bolla, M. K., Wang, Q., Easton, D., Howat, W. J., Coulson, P., Pharoah, P. D. P., Sherman, M. E. & Yang, X. R., Feb 2 2016, In : British Journal of Cancer. 114, 3, p. 298-304 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, The GENICA Network, KConFab investigators, KConFab investigators, Australian Ovarian Cancer Study Group & The GENICA Network, Jan 1 2016, In : Human molecular genetics. 25, 17, p. 3863-3876 14 p.

Research output: Contribution to journalArticle

11 Scopus citations

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, NBCS Collaborators, kConFab/AOCS Investigators & NBCS Collaborators, Jan 1 2016, In : Oncotarget. 7, 49, p. 80140-80163 24 p.

Research output: Contribution to journalArticle

16 Scopus citations
2017

Genetic modifiers of CHEK2∗1100delC-associated breast cancer risk

Breast Cancer Association Consortium & KConFab,AOCS Investigators, May 1 2017, In : Genetics in Medicine. 19, 5, p. 599-603 5 p.

Research output: Contribution to journalArticle

18 Scopus citations
2016

Integrated genomic analysis of pancreatic ductal adenocarcinomas reveals genomic rearrangement events as significant drivers of disease

Murphy, S. J., Hart, S., Halling, G. C., Johnson, S. H., Smadbeck, J., Drucker, T., Lima, J. F., Rohakhtar, F. R., Harris, F. R., Kosari, F., Subramanian, S., Petersen, G. M., Wiltshire, T. D., Kipp, B. R., Truty, M., Mc Williams, R. R., Couch, F. J. & Vasmatzis, G., Feb 1 2016, In : Cancer Research. 76, 3, p. 749-761 13 p.

Research output: Contribution to journalArticle

15 Scopus citations
2019

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
2016

Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients

Hu, C., Hart, S., Bamlet, W. R., Moore, R. M., Nandakumar, K., Eckloff, B. W., Lee, Y. K., Petersen, G. M., Mc Williams, R. R. & Couch, F. J., Jan 1 2016, In : Cancer Epidemiology Biomarkers and Prevention. 25, 1, p. 207-211 5 p.

Research output: Contribution to journalArticle

59 Scopus citations

Rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

Liu, J., Loncar, I., Colleé, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Beckmann, M. W., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Broeks, A. & 79 others, Burwinkel, B., Chang-Claude, J., Chen, S. T., Chenevix-Trench, G., Cheng, C. Y., Choi, J. Y., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., Garciá-Closas, M., Giles, G. G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V. M., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Matsuo, K., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C. Y., Shrubsole, M. J., Shu, X. O., Simard, J., Southey, M. C., Swerdlow, A., Teo, S. H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C. C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., Van Den Ouweland, A. M. W., Martens, J. W. M. & Hollestelle, A., Nov 15 2016, In : Scientific reports. 6, 36874.

Research output: Contribution to journalArticle

1 Scopus citations
2020

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
2018

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., Jul 1 2018, In : Breast Cancer Research and Treatment. 170, 1, p. 129-141 13 p.

Research output: Contribution to journalArticle

1 Scopus citations
2016

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

KConFab investigators, Sep 15 2016, In : International Journal of Cancer. 139, 6, p. 1303-1317 15 p.

Research output: Contribution to journalArticle

18 Scopus citations
2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 461 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Al-Ejeh, F., Margreet, G. M. A., Bacot, F., Børresen-Dale, A. L., Bressac-De, B. P., Brooks-Wilson, A., Castelao, J. E., Caux-Moncoutier, V., Chang-Claude, J., McLaes, K. B., Dieter, F. J., Gschwantler-Kaulich, D., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. 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Research output: Contribution to journalArticle

75 Scopus citations
2016

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Dunning, A. M., Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., Healey, C. S., Kar, S., Pooley, K. A., Lopez-Knowles, E., Dicks, E., Barrowdale, D., Sinnott-Armstrong, N. A., Sallari, R. C., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Marjaneh, M. M., Lee, J. S., Hills, M. & 228 others, Jarosz, M., Drury, S., Canisius, S., KBolla, M., Dennis, J., Wang, Q., LHopper, J., Southey, M. C., Broeks, A., Schmidt, M. K., Lophatananon, A., Muir, K., Beckmann, M. W., Fasching, P. A., Dos-Santos-Silva, I., Peto, J., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Gonzlez-Neira, A., Perez, J. I. A., Anton-Culver, H., Eunjung, L., Arndt, V., Brenner, H., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Aittomki, K., Blomqvist, C., Ito, H., Matsuo, K., Bogdanova, N., Dörk, T., Lindblom, A., Margolin, S., Kosma, V. M., Mannermaa, A., Tseng, C. C., Wu, A. H., Lambrechts, D., Wildiers, H., Chang-Claude, J., Rudolph, A., Peterlongo, P., Radice, P., EOlson, J., GGiles, G., Milne, R. L., Haiman, C. A., Henderson, B. E., Goldberg, M. S., Teo, S. H., Yip, C. H., Nord, S., Borresen-Dale, A. L., Kristensen, V., Long, J., Zheng, W., Pylks, K., Winqvist, R., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., Figueroa, J., Sherman, M. E., Czene, K., Darabi, H., Hollestelle, A., Van Den Ouweland, A. M. W., Humphreys, K., Gao, Y. T., Shu, X. O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Ghoussaini, M., Perkins, B. J., Shah, M., Choi, J. Y., Kang, D., Lee, S. C., Hartman, M., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Brennan, P., Sangrajrang, S., Ambrosone, C. B., Toland, A. E., Shen, C. Y., Wu, P. E., Orr, N., Swerdlow, A., McGuffog, L., Healey, S., Lee, A., Kapuscinski, M., John, E. M., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., Van Rensburg, E. J., Neuhausen, S. L., Ejlertsen, B., OHansen, T. V., Osorio, A., Benitez, J., Rando, R., Weitzel, J. N., Bonanni, B., Peissel, B., Manoukian, S., Papi, L., Ottini, L., Konstantopoulou, I., Apostolou, P., Garber, J., Rashid, M. U., Frost, D., Izatt, L., Ellis, S., Godwin, A. K., Arnold, N., Niederacher, D., Rhiem, K., Bogdanova-Markov, N., Sagne, C., Stoppa-Lyonnet, D., Damiola, F., Sinilnikova, O. M., Mazoyer, S., Isaacs, C., MClaes, K. B., De Leeneer, K., De La Hoya, M., Caldes, T., Nevanlinna, H., Khan, S., Mensenkamp, A. R., Hooning, M. J., Rookus, M. A., Kwong, A., Olah, E., Diez, O., Brunet, J., Pujana, M. A., Gronwald, J., Huzarski, T., Barkardottir, R. B., Laframboise, R., Soucy, P., Montagna, M., Agata, S., Teixeira, M. R., Kyung Park, S., Lindor, N., Couch, F. J., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Singer, C. F., Rappaport, C., MPhelan, C., Greene, M. H., Mai, P. L., Rennert, G., Imyanitov, E. N., Hulick, P. J., Phillips, K. A., Piedmonte, M., Mulligan, A. M., Glendon, G., Bojesen, A., Thomassen, M., Caligo, M. A., Yoon, S. Y., Friedman, E., Laitman, Y., Borg, A., Von Wachenfeldt, A., Ehrencrona, H., Rantala, J., Olopade, O. I., Ganz, P. A., Nussbaum, R. L., Gayther, S. A., LNathanson, K., Domchek, S. M., Arun, B. K., Mitchell, G., Karlan, B. Y., Lester, J., Maskarinec, G., Woolcott, C., Scott, C., Stone, J., Apicella, C., Tamimi, R., Luben, R., Khaw, K. T., Helland, S., Haakensen, V., Dowsett, M., Pharoah, P. D. P., Simard, J., Hall, P., Garca-Closas, M., Vachon, C., Chenevix-Trench, G., Antoniou, A. C., Easton, D. F. & Edwards, S. L., Mar 29 2016, In : Nature Genetics. 48, 4, p. 374-386 13 p.

Research output: Contribution to journalArticle

55 Scopus citations
2017

Reproductive profiles and risk of breast cancer subtypes: A multi-center case-only study

Brouckaert, O., Rudolph, A., Laenen, A., Keeman, R., Bolla, M. K., Wang, Q., Soubry, A., Wildiers, H., Andrulis, I. L., Arndt, V., Beckmann, M. W., Benitez, J., Blomqvist, C., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Chenevix-Trench, G., Choi, J. Y., Cornelissen, S. & 57 others, Couch, F. J., Cox, A., Cross, S. S., Czene, K., Eriksson, M., Fasching, P. A., Figueroa, J., Flyger, H., Giles, G. G., González-Neira, A., Guénel, P., Hall, P., Hollestelle, A., Hopper, J. L., Ito, H., Jones, M., Kang, D., Knight, J. A., Kosma, V. M., Li, J., Lindblom, A., Lilyquist, J., Lophatananon, A., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Muir, K., Nevanlinna, H., Peterlongo, P., Pylkäs, K., Saajrang, S., Seynaeve, C., Shen, C. Y., Shu, X. O., Southey, M. C., Swerdlow, A., Teo, S. H., Tollenaar, R. A. E. M., Truong, T., Tseng, C. C., van den Broek, A. J., van Deurzen, C. H. M., Winqvist, R., Wu, A. H., Yip, C. H., Yu, J. C., Zheng, W., Milne, R. L., Pharoah, P. D. P., Easton, D. F., Schmidt, M. K., Garcia-Closas, M., Chang-Claude, J., Lambrechts, D., Neven, P. & kConFab, Nov 7 2017, In : Breast Cancer Research. 19, 1, 119.

Research output: Contribution to journalArticle

11 Scopus citations
2016

Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S., Karlan, B. Y., Mitchell, G., James, P., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S. Y., Caligo, M. A. & 126 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E. N., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Kim, S. W., Teixeira, M. R., Pinto, P., Montagna, M., Matricardi, L., Arason, A., Johannsson, O. T., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Izquierdo, A., Pujana, M. A., Balmaña, J., Diez, O., Ivady, G., Papp, J., Olah, E., Kwong, A., Nevanlinna, H., Aittomäki, K., Perez Segura, P., Caldes, T., Van Maerken, T., Poppe, B., Claes, K. B. M., Isaacs, C., Elan, C., Lasset, C., Stoppa-Lyonnet, D., Barjhoux, L., Belotti, M., Meindl, A., Gehrig, A., Sutter, C., Engel, C., Niederacher, D., Steinemann, D., Hahnen, E., Kast, K., Arnold, N., Varon-Mateeva, R., Wand, D., Godwin, A. K., Evans, D. G., Frost, D., Perkins, J., Adlard, J., Izatt, L., Platte, R., Eeles, R., Ellis, S., Hamann, U., Garber, J., Fostira, F., Fountzilas, G., Pasini, B., Giannini, G., Rizzolo, P., Russo, A., Cortesi, L., Papi, L., Varesco, L., Palli, D., Zanna, I., Savarese, A., Radice, P., Manoukian, S., Peissel, B., Barile, M., Bonanni, B., Viel, A., Pensotti, V., Tommasi, S., Peterlongo, P., Weitzel, J. N., Osorio, A., Benitez, J., McGuffog, L., Healey, S., Gerdes, A. M., Ejlertsen, B., Hansen, T. V. O., Steele, L., Ding, Y. C., Tung, N., Janavicius, R., Goldgar, D. E., Buys, S. S., Daly, M. B., Bane, A., Terry, M. B., John, E. M., Southey, M., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C. & Ottini, L., Feb 9 2016, In : Breast Cancer Research. 18, 1, 15.

Research output: Contribution to journalArticle

36 Scopus citations
2018

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

Shimelis, H., LaDuca, H., Hu, C., Hart, S. N., 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. C., 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

57 Scopus citations
2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

KConFab investigators, Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, Consortium of Modifiers of BRCA1 and BRCA2, Australian Ovarian Cancer Study Group, Australian Ovarian Cancer Study Group, Australian Ovarian Cancer Study Group & GEMO Study Collaborators, May 1 2016, In : Gynecologic oncology. 141, 2, p. 386-401 16 p.

Research output: Contribution to journalReview article

8 Scopus citations
2019

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
2018

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., 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 2018, In : International journal of epidemiology. 47, 2, p. 526-536 11 p.

Research output: Contribution to journalArticle

25 Scopus citations

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

6 Scopus citations
2016

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing

Australian Ovarian Cancer Study Group, KConFab investigators, Lifepool Investigators & NBCS Investigators, Feb 26 2016, In : Journal of medical genetics. 53, 5, p. 298-309 12 p.

Research output: Contribution to journalArticle

56 Scopus citations
2017

Erratum to: Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status. [Breast Cancer Research. 18, (2016), (122)] doi:10.1186/s13058-016-0778-1

Malkov, S., Shepherd, J. A., Scott, C. G., Tamimi, R. M., Ma, L., Bertrand, K. A., Couch, F. J., Jensen, M. R., Mahmoudzadeh, A. P., Fan, B., Norman, A., Brandt, K. R., Pankratz, V. S., Vachon, C. M. & Kerlikowske, K., Jan 4 2017, In : Breast Cancer Research. 19, 1, 1.

Research output: Contribution to journalComment/debate

2018

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

73 Scopus citations

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

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

Research output: Contribution to journalArticle

61 Scopus citations

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

4 Scopus citations
2017

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Day, F. R., Thompson, D. J., Helgason, H., Chasman, D. I., Finucane, H., Sulem, P., Ruth, K. S., Whalen, S., Sarkar, A. K., Albrecht, E., Altmaier, E., Amini, M., Barbieri, C. M., Boutin, T., Campbell, A., Demerath, E., Giri, A., He, C., Hottenga, J. J., Karlsson, R. & 196 others, Kolcic, I., Loh, P. R., Lunetta, K. L., Mangino, M., Marco, B., McMahon, G., Medland, S. E., Nolte, I. M., Noordam, R., Nutile, T., Paternoster, L., Perjakova, N., Porcu, E., Rose, L. M., Schraut, K. E., Segrè, A. V., Smith, A. V., Stolk, L., Teumer, A., Andrulis, I. L., Bandinelli, S., Beckmann, M. W., Benitez, J., Bergmann, S., Bochud, M., Boerwinkle, E., Bojesen, S. E., Bolla, M. K., Brand, J. S., Brauch, H., Brenner, H., Broer, L., Brüning, T., Buring, J. E., Campbell, H., Catamo, E., Chanock, S., Chenevix-Trench, G., Corre, T., Couch, F. J., Cousminer, D. L., Cox, A., Crisponi, L., Czene, K., Davey Smith, G., De Geus, E. J. C. N., De Mutsert, R., De Vivo, I., Dennis, J., Devilee, P., Dos-Santos-Silva, I., Dunning, A. M., Eriksson, J. G., Fasching, P. A., Fernández-Rhodes, L., Ferrucci, L., Flesch-Janys, D., Franke, L., Gabrielson, M., Gandin, I., Giles, G. G., Grallert, H., Gudbjartsson, D. F., Guénel, P., Hall, P., Hallberg, E., Hamann, U., Harris, T. B., Hartman, C. A., Heiss, G., Hooning, M. J., Hopper, J. L., Hu, F., Hunter, D. J., Ikram, M. A., Im, H. K., Järvelin, M. R., Joshi, P. K., Karasik, D., Kellis, M., Kutalik, Z., Lachance, G., Lambrechts, D., Langenberg, C., Launer, L. J., Laven, J. S. E., Lenarduzzi, S., Li, J., Lind, P. A., Lindstrom, S., Liu, Y., Luan, JA., Mägi, R., Mannermaa, A., Mbarek, H., McCarthy, M. I., Meisinger, C., Meitinger, T., Menni, C., Metspalu, A., Michailidou, K., Milani, L., Milne, R. L., Montgomery, G. W., Mulligan, A. M., Nalls, M. A., Navarro, P., Nevanlinna, H., Nyholt, D. R., Oldehinkel, A. J., O'Mara, T. A., Padmanabhan, S., Palotie, A., Pedersen, N., Peters, A., Peto, J., Pharoah, P. D. P., Pouta, A., Radice, P., Rahman, I., Ring, S. M., Robino, A., Rosendaal, F. R., Rudan, I., Rueedi, R., Ruggiero, D., Sala, C. F., Schmidt, M. K., Scott, R. A., Shah, M., Sorice, R., Southey, M. C., Sovio, U., Stampfer, M., Steri, M., Strauch, K., Tanaka, T., Tikkanen, E., Timpson, N. J., Traglia, M., Truong, T., Tyrer, J. P., Uitterlinden, A. G., Edwards, D. R. V., Vitart, V., Völker, U., Vollenweider, P., Wang, Q., Widen, E., Van Dijk, K. W., Willemsen, G., Winqvist, R., Wolffenbuttel, B. H. R., Zhao, J. H., Zoledziewska, M., Zygmunt, M., Alizadeh, B. Z., Boomsma, D. I., Ciullo, M., Cucca, F., Esko, T., Franceschini, N., Gieger, C., Gudnason, V., Hayward, C., Kraft, P., Lawlor, D. A., Magnusson, P. K. E., Martin, N. G., Mook-Kanamori, D. O., Nohr, E. A., Polasek, O., Porteous, D., Price, A. L., Ridker, P. M., Snieder, H., Spector, T. D., Stöckl, D., Toniolo, D., Ulivi, S., Visser, J. A., Völzke, H., Wareham, N. J., Wilson, J. F., Spurdle, A. B., Thorsteindottir, U., Pollard, K. S., Easton, D. F., Tung, J. Y., Chang-Claude, J., Hinds, D., Murray, A., Murabito, J. M., Stefansson, K., Ong, K. K. & Perry, J. R. B., Jun 1 2017, In : Nature Genetics. 49, 6, p. 834-841 8 p.

Research output: Contribution to journalArticle

110 Scopus citations
2018

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Moghadasi, S., Meeks, H. D., Vreeswijk, P. M., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A. M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., Van Den Ouweland, A. M. W., Collée, M. J., Teugels, E., Adank, M. A., Van Der Luijt, R. B., Mensenkamp, R. A., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., Jan 2018, In : Journal of medical genetics. 55, 1, p. 15-20 6 p.

Research output: Contribution to journalArticle

22 Scopus citations
2017

The oncoarray consortium: A network for understanding the genetic architecture of common cancers

Amos, C. I., Dennis, J., Wang, Z., Byun, J., Schumacher, F. R., Gayther, S. A., Casey, G., Hunter, D. J., Sellers, T. A., Gruber, S. B., Dunning, A. M., Michailidou, K., Fachal, L., Doheny, K., Spurdle, A. B., Li, Y., Xiao, X., Romm, J., Pugh, E., Coetzee, G. A. & 73 others, Hazelett, D. J., Bojesen, S. E., Caga-Anan, C., Haiman, C. A., Kamal, A., Luccarini, C., Tessier, D., Vincent, D., Bacot, F., Van Den Berg, D. J., Nelson, S., Demetriades, S., Goldgar, D. E., Couch, F. J., Forman, J. L., Giles, G. G., Conti, D. V., Bickeboller, H., Risch, A., Waldenberger, M., Bruske-Hohlfeld, I., Hicks, B. D., Ling, H., McGuffog, L., Lee, A., Kuchenbaecker, K., Soucy, P., Manz, J., Cunningham, J. M., Butterbach, K., Kote-Jarai, Z., Kraft, P., FitzGerald, L., Lindstrom, S., Adams, M., McKay, J. D., Phelan, C. M., Benlloch, S., Kelemen, L. E., Brennan, P., Riggan, M., O'Mara, T. A., Shen, H., Shi, Y., Thompson, D. J., Goodman, M. T., Nielsen, S. F., Berchuck, A., Laboissiere, S., Schmit, S. L., Shelford, T., Edlund, C. K., Taylor, J. A., Field, J. K., Park, S. K., Offit, K., Thomassen, M., Schmutzler, R., Ottini, L., Hung, R. J., Marchini, J., Olama, A. A. A., Peters, U., Eeles, R. A., Seldin, M. F., Gillanders, E., Seminara, D., Antoniou, A. C., Pharoah, P. D. P., Chenevix-Trench, G., Chanock, S. J., Simard, J. & Easton, D. F., Jan 2017, In : Cancer Epidemiology Biomarkers and Prevention. 26, 1, p. 126-135 10 p.

Research output: Contribution to journalArticle

101 Scopus citations
2018

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

24 Scopus citations
2017

Identification of a pyruvate-to-lactate signature in pancreatic intraductal papillary mucinous neoplasms

Penheiter, A. R., Deelchand, D. K., Kittelson, E., Damgard, S. E., Murphy, S. J., O'Brien, D. R., Bamlet, W. R., Passow, M. R., Smyrk, T. C., Couch, F. J., Vasmatzis, G., Port, J. D., Marjańska, M. & Carlson, S. K., Jan 1 2017, (Accepted/In press) In : Pancreatology.

Research output: Contribution to journalArticle

5 Scopus citations
2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D. & 229 others, Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., De La Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Dos-Santos-Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Ehrencrona, H., Ekici, A. B., Eliassen, H., Ellis, S., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M. M., Gayther, S. A., Gerdes, A. M., Ghoussaini, M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K. T., Kibriya, M. G., Knight, J. A., Ko, Y. D., Konstantopoulou, I., Kosma, V. M., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., Mcguffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sanchez, M. J., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., Van Deurzen, C. H. M., Van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. D. P., Monteiro, A. A. N., García-Closas, M., Easton, D. F. & Antoniou, A. C., Apr 27 2016, In : Nature communications. 7, 11375.

Research output: Contribution to journalArticle

40 Scopus citations
2020

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
2016

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Ghoussaini, M., French, J. D., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, K. M., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M., Lee, J. S., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Milne, R. L., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A. & 103 others, Muir, K., Lophatananon, A., Fasching, P. A., Beckmann, M. W., Fletcher, O., Johnson, N., Sawyer, E. J., Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Alonso, M. R., Pita, G., Neuhausen, S. L., Anton-Culver, H., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Tessier, D. C., Vincent, D., Nevanlinna, H., Khan, S., Matsuo, K., Ito, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Wu, A. H., Van Den Berg, D., Lambrechts, D., Floris, G., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Hallberg, E., Giles, G. G., Haiman, C. A., Le Marchand, L., Goldberg, M. S., Teo, S. H., Yip, C. H., Borresen-Dale, A. L., Zheng, W., Cai, Q., Winqvist, R., Pylkäs, K., Andrulis, I. L., Devilee, P., Tollenaar, R. A. E. M., García-Closas, M., Figueroa, J., Hall, P., Czene, K., Brand, J. S., Darabi, H., Eriksson, M., Hooning, M. J., Koppert, L. B., Li, J., Shu, X. O., Zheng, Y., Cox, A., Cross, S. S., Shah, M., Rhenius, V., Choi, J. Y., Kang, D., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Luccarini, C., Conroy, D. M., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Olswold, C., Slager, S., Shen, C. Y., Hou, M. F., Swerdlow, A., Schoemaker, M. J., Simard, J., Pharoah, P. D. P., Kristensen, V., Chenevix-Trench, G., Easton, D. F., Dunning, A. M. & Edwards, S. L., Oct 6 2016, In : American journal of human genetics. 99, 4, p. 903-911 9 p.

Research output: Contribution to journalArticle

24 Scopus citations

Fine-mapping of the 1p11.2 breast cancer susceptibility locus

Horne, H. N., Chung, C. C., Zhang, H., Yu, K., Prokunina-Olsson, L., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Hopper, J. L., Southey, M. C., Schmidt, M. K., Broeks, A., Muir, K., Lophatananon, A., Fasching, P. A., Beckmann, M. W., Fletcher, O., Johnson, N., Sawyer, E. J. & 94 others, Tomlinson, I., Burwinkel, B., Marme, F., Guénel, P., Truong, T., Bojesen, S. E., Flyger, H., Benitez, J., González-Neira, A., Anton-Culver, H., Neuhausen, S. L., Brenner, H., Arndt, V., Meindl, A., Schmutzler, R. K., Brauch, H., Hamann, U., Nevanlinna, H., Khan, S., Matsuo, K., Iwata, H., Dörk, T., Bogdanova, N. V., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V. M., Chenevix-Trench, G., Wu, A. H., Ven Den Berg, D., Smeets, A., Zhao, H., Chang-Claude, J., Rudolph, A., Radice, P., Barile, M., Couch, F. J., Vachon, C., Giles, G. G., Milne, R. L., Haiman, C. A., Marchand, L. L., Goldberg, M. S., Teo, S. H., Taib, N. A. M., Kristensen, V., Borresen-Dale, A. L., Zheng, W., Shrubsole, M., Winqvist, R., Jukkola-Vuorinen, A., Andrulis, I. L., Knight, J. A., Devilee, P., Seynaeve, C., García-Closas, M., Czene, K., Darabi, H., Hollestelle, A., Martens, J. W. M., Li, J., Lu, W., Shu, X. O., Cox, A., Cross, S. S., Blot, W., Cai, Q., Shah, M., Luccarini, C., Baynes, C., Harrington, P., Kang, D., Choi, J. Y., Hartman, M., Chia, K. S., Kabisch, M., Torres, D., Jakubowska, A., Lubinski, J., Sangrajrang, S., Brennan, P., Slager, S., Yannoukakos, D., Shen, C. Y., Hou, M. F., Swerdlow, A., Orr, N., Simard, J., Hall, P., Pharoah, P. D. P., Easton, D. F., Chanock, S. J., Dunning, A. M. & Figueroa, J. D., Aug 2016, In : PloS one. 11, 8, e0160316.

Research output: Contribution to journalArticle

8 Scopus citations
2019

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