• 46599 Citations
  • 101 Scopus h-Index
1978 …2021

Research output per year

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Research Output

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Thompson, B. A., Spurdle, A. B., Plazzer, J. P., Greenblatt, M. S., Akagi, K., Al-Mulla, F., Bapat, B., Bernstein, I., Capellá, G., Den Dunnen, J. T., Du Sart, D., Fabre, A., Farrell, M. P., Farrington, S. M., Frayling, I. M., Frebourg, T., Goldgar, D. E., Heinen, C. D., Holinski-Feder, E., Kohonen-Corish, M. & 119 others, Robinson, K. L., Leung, S. Y., Martins, A., Moller, P., Morak, M., Nystrom, M., Peltomaki, P., Pineda, M., Qi, M., Ramesar, R., Rasmussen, L. J., Royer-Pokora, B., Scott, R. J., Sijmons, R., Tavtigian, S. V., Tops, C. M., Weber, T., Wijnen, J., Woods, M. O., Macrae, F., Genuardi, M., Castillejo, A., Sexton, A., Chan, A. K. W., Viel, A., Blanco, A., French, A., Laner, A., Wagner, A., Van Den Ouweland, A., Mensenkamp, A., Payá, A., Betz, B., Redeker, B., Smith, B., Espenschied, C., Cummings, C., Engel, C., Fornes, C., Valenzuela, C., Alenda, C., Buchanan, D., Barana, D., Konstantinova, D., Cairns, D., Glaser, E., Silva, F., Lalloo, F., Crucianelli, F., Hogervorst, F., Casey, G., Tomlinson, I., Blanco, I., Villar, I. L., Garcia-Planells, J., Bigler, J., Shia, J., Martinez-Lopez, J., Gille, J. J. P., Hopper, J., Potter, J., Soto, J. L., Kantelinen, J., Ellis, K., Mann, K., Varesco, L., Zhang, L., Marchand, L. L., Marafie, M. J., Nordling, M., Tibiletti, M. G., Kahan, M. A., Ligtenberg, M., Clendenning, M., Jenkins, M., Speevak, M., Digweed, M., Kloor, M., Hitchins, M., Myers, M., Aronson, M., Valentin, M. D., Kutsche, M., Parsons, M., Walsh, M., Kansikas, M., Zahary, M. N., Pedroni, M., Heider, N., Poplawski, N., Rahner, N., Lindor, N. M., Sala, P., Nan, P., Propping, P., Newcomb, P., Sarin, R., Haile, R., Hofstra, R., Ward, R., Tricarico, R., Bacares, R., Young, S., Chialina, S., Kovalenko, S., Gunawardena, S. R., Moreno, S., Ho, S. L., Yuen, S. T., Thibodeau, S. N., Gallinger, S., Burnett, T., Teitsch, T., Chan, T. L., Smyrk, T., Cranston, T., Psofaki, V., Steinke-Lange, V. & Barbera, V. M., Feb 1 2014, In : Nature Genetics. 46, 2, p. 107-115 9 p.

Research output: Contribution to journalReview article

253 Scopus citations

Ascending the learning curve-MSI testing experience of a six-laboratory consortium

Lindor, N. M., Smalley, R., Barker, M., Bigler, J., Krumroy, L. M., Lum-Jones, A., Plummer, S. J., Selander, T., Thomas, S., Youash, M., Seminara, D., Casey, G., Bapat, B. & Thibodeau, S. N., 2006, In : Cancer Biomarkers. 2, 1-2, p. 5-9 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair

Boardman, L. A., Schmidt, S., Lindor, N. M., Burgart, L. J., Cunningham, J. M., Price-Troska, T., Snow, K., Ahlquist, D. A. & Thibodeau, S. N., Jan 1 2001, In : Genes Chromosomes and Cancer. 30, 2, p. 181-186 6 p.

Research output: Contribution to journalArticle

15 Scopus citations

A Simple Assay for the Screening of the Cystic Fibrosis Allele in Carriers of the Phe508 Deletion Mutation

CHONG, GEORGE. L. & THIBODEAU, STEPHEN. N., Jan 1 1990, In : Mayo Clinic proceedings. 65, 8, p. 1072-1076 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Aspirin, Ibuprofen, and the Risk of Colorectal Cancer in Lynch Syndrome

Ouakrim, D. A., Dashti, S. G., Chau, R., Buchanan, D. D., Clendenning, M., Rosty, C., Winship, I. M., Young, J. P., Giles, G. G., Leggett, B., Macrae, F. A., Ahnen, D. J., Casey, G., Gallinger, S., Haile, R. W., Le Marchand, L., Thibodeau, S. N., Lindor, N. M., Newcomb, P. A., Potter, J. D. & 4 others, Baron, J. A., Hopper, J. L., Jenkins, M. A. & Win, A. K., Sep 1 2015, In : Journal of the National Cancer Institute. 107, 9

Research output: Contribution to journalArticle

43 Scopus citations
5 Scopus citations

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

the PRACTICAL consortium, Dec 1 2019, In : Nature communications. 10, 1, 2154.

Research output: Contribution to journalArticle

Open Access
9 Scopus citations

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Schumacher, F. R., Al Olama, A. A., Berndt, S. I., Benlloch, S., Ahmed, M., Saunders, E. J., Dadaev, T., Leongamornlert, D., Anokian, E., Cieza-Borrella, C., Goh, C., Brook, M. N., Sheng, X., Fachal, L., Dennis, J., Tyrer, J., Muir, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M. & 167 others, Carter, B. D., Tangen, C. M., Goodman, P. J., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Håkansson, N., West, C. M. L., Dunning, A. M., Burnet, N., Mucci, L. A., Giovannucci, E., Andriole, G. L., Cussenot, O., Cancel-Tassin, G., Koutros, S., Beane Freeman, L. E., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Lu, Y. J., Zhang, H. W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., Fitzgerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H. Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S. H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Singhal, S., Slavov, C., Mitev, V., Parliament, M., Claessens, F., Joniau, S., Van Den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Dominguez, M. G., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., Van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K. T., Cannon-Albright, L., Pandha, H., Michael, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Cui, Z., Kraft, P., Amos, C. I., Conti, D. V., Easton, D. F., Wiklund, F., Chanock, S. J., Henderson, B. E., Kote-Jarai, Z., Haiman, C. A. & Eeles, R. A., Jul 1 2018, In : Nature Genetics. 50, 7, p. 928-936 9 p.

Research output: Contribution to journalArticle

83 Scopus citations

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

Teerlink, C. C., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Rinckleb, A., Maier, C., Vogel, W., Cancel-Tassin, G., Egrot, C., Cussenot, O., Foulkes, W. D., Giles, G. G., Hopper, J. L., Severi, G., Eeles, R., Easton, D., Kote-Jarai, Z., Guy, M., Cooney, K. A., Ray, A. M. & 27 others, Zuhlke, K. A., Lange, E. M., Fitzgerald, L. M., Stanford, J. L., Ostrander, E. A., Wiley, K. E., Isaacs, S. D., Walsh, P. C., Isaacs, W. B., Wahlfors, T., Tammela, T., Schleutker, J., Wiklund, F., Grönberg, H., Emanuelsson, M., Carpten, J., Bailey-Wilson, J., Whittemore, A. S., Oakley-Girvan, I., Hsieh, C. L., Catalona, W. J., Zheng, S. L., Jin, G., Lu, L., Xu, J., Camp, N. J. & Cannon-Albright, L. A., Mar 1 2014, In : Human genetics. 133, 3, p. 347-356 10 p.

Research output: Contribution to journalArticle

20 Scopus citations

Association between body mass index and mortality for colorectal cancer survivors: Overall and by tumor molecular phenotype

Campbell, P. T., Newton, C. C., Newcomb, P. A., Phipps, A. I., Ahnen, D. J., Baron, J. A., Buchanan, D. D., Casey, G., Cleary, S. P., Cotterchio, M., Farris, A. B., Figueiredo, J. C., Gallinger, S., Green, R. C., Haile, R. W., Hopper, J. L., Jenkins, M. A., Le Marchand, L., Makar, K. W., McLaughlin, J. R. & 8 others, Potter, J. D., Renehan, A. G., Sinicrope, F. A., Thibodeau, S. N., Ulrich, C. M., Win, A. K., Lindor, N. M. & Limburg, P. J., Aug 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 8, p. 1229-1238 10 p.

Research output: Contribution to journalArticle

30 Scopus citations

Association of aspirin and NSAID use with risk of colorectal cancer according to genetic variants

Nan, H., Hutter, C. M., Lin, Y., Jacobs, E. J., Ulrich, C. M., White, E., Baron, J. A., Berndt, S. I., Brenner, H., Butterbach, K., Caan, B. J., Campbell, P. T., Carlson, C. S., Casey, G., Chang-Claude, J., Chanock, S. J., Cotterchio, M., Duggan, D., Figueiredo, J. C., Fuchs, C. S. & 33 others, Giovannucci, E. L., Gong, J., Haile, R. W., Harrison, T. A., Hayes, R. B., Hoffmeister, M., Hopper, J. L., Hudson, T. J., Jenkins, M. A., Jiao, S., Lindor, N. M., Lemire, M., Le Marchand, L., Newcomb, P. A., Ogino, S., Pflugeisen, B. M., Potter, J. D., Qu, C., Rosse, S. A., Rudolph, A., Schoen, R. E., Schumacher, F. R., Seminara, D., Slattery, M. L., Thibodeau, S. N., Thomas, F., Thornquist, M., Warnick, G. S., Zanke, B. W., Gauderman, W. J., Peters, U., Hsu, L. & Chan, A. T., Mar 17 2015, In : JAMA - Journal of the American Medical Association. 313, 11, p. 1133-1142 10 p.

Research output: Contribution to journalArticle

111 Scopus citations

Association of DNA mismatch repair and mutations in BRAF and KRAS with survival after recurrence in stage III colon cancers: A secondary analysis of 2 randomized clinical trials

Sinicrope, F. A., Shi, Q. D., Allegra, C. J., Smyrk, T. C., Thibodeau, S. N., Goldberg, R. M., Meyers, J. P., Pogue-Geile, K. L., Yothers, G., Sargent, D. J. & Alberts, S. R., 2017, In : JAMA oncology. 3, 4, p. 472-480 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

Association of mitochondrial DNA copy number with self-rated health status

Takahashi, P. Y., Jenkins, G. D., Welkie, B. P., McDonnell, S. K., Evans, J. M., Cerhan, J. R., Olson, J. E., Thibodeau, S. N., Cicek, M. & Ryu, E., Jan 1 2018, In : Application of Clinical Genetics. 11, p. 121-127 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women

Boardman, L. A., Pittelkow, M. R., Couch, F. J., Schaid, D. J., McDonnell, S. K., Burgart, L. J., Ahlquist, D. A., Carney, J. A., Schwartz, D. I., Thibodeau, S. N. & Hartmann, L. C., Oct 17 2000, In : Medicine. 79, 5, p. 293-298 6 p.

Research output: Contribution to journalArticle

30 Scopus citations

Associations between cigarette smoking, hormone therapy, and folate intake with incident colorectal cancer by TP53 protein expression level in a population-based cohort of older women

Tillmans, L. S., Vierkant, R. A., Wang, A. H., Samadder, N. J., Lynch, C. F., Anderson, K. E., French, A. J., Haile, R. W., Harnack, L. J., Potter, J. D., Slager, S. L., Smyrk, T. C., Thibodeau, S. N., Cerhan, J. R. & Limburg, P. J., Feb 1 2014, In : Cancer Epidemiology Biomarkers and Prevention. 23, 2, p. 350-355 6 p.

Research output: Contribution to journalArticle

7 Scopus citations

Associations between colorectal cancer molecular markers and pathways with clinicopathologic features in older women

Samadder, N. J., Vierkant, R. A., Tillmans, L. S., Wang, A. H., Weisenberger, D. J., Laird, P. W., Lynch, C. F., Anderson, K. E., French, A. J., Haile, R. W., Potter, J. D., Slager, S. L., Smyrk, T. C., Thibodeau, S. N., Cerhan, J. R. & Limburg, P. J., Aug 2013, In : Gastroenterology. 145, 2, p. 348-356.e2

Research output: Contribution to journalArticle

40 Scopus citations

Associations between environmental exposures and incident colorectal cancer by ESR2 protein expression level in a population-based cohort of older women

Tillmans, L. S., Vierkant, R. A., Wang, A. H., Samadder, N. J., Lynch, C. F., Anderson, K. E., French, A. J., Haile, R. W., Harnack, L. J., Potter, J. D., Slager, S. L., Smyrk, T. C., Thibodeau, S. N., Cerhan, J. R. & Limburg, P. J., Apr 1 2015, In : Cancer Epidemiology Biomarkers and Prevention. 24, 4, p. 713-719 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Associations between intake of folate and related micronutrients with molecularly defined colorectal cancer risks in the Iowa Women's Health Study

Razzak, A. A., Oxentenko, A. S., Vierkant, R. A., Tillmans, L. S., Wang, A. H., Weisenberger, D. J., Laird, P. W., Lynch, C. F., Anderson, K. E., French, A. J., Haile, R. W., Harnack, L. J., Potter, J. D., Slager, S. L., Smyrk, T. C., Thibodeau, S. N., Cerhan, J. R. & Limburg, P. J., Oct 1 2012, In : Nutrition and Cancer. 64, 7, p. 899-910 12 p.

Research output: Contribution to journalArticle

23 Scopus citations

Associations between smoking, alcohol consumption, and colorectal cancer, overall and by tumor microsatellite instability status

Poynter, J. N., Haile, R. W., Siegmund, K. D., Campbell, P. T., Figueiredo, J. C., Limburg, P., Young, J., Le Marchand, L., Potter, J. D., Cotterchio, M., Casey, G., Hopper, J. L., Jenkins, M. A., Thibodeau, S. N., Newcomb, P. A. & Baron, J. A., Oct 1 2009, In : Cancer Epidemiology Biomarkers and Prevention. 18, 10, p. 2745-2750 6 p.

Research output: Contribution to journalArticle

92 Scopus citations

Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases

Helfand, B. T., Roehl, K. A., Cooper, P. R., McGuire, B. B., Fitzgerald, L. M., Cancel-Tassin, G., Cornu, J. N., Bauer, S., Van Blarigan, E. L., Chen, X., Duggan, D., Ostrander, E. A., Gwo-Shu, M., Zhang, Z. F., Chang, S. C., Jeong, S., Fontham, E. T. H., Smith, G., Mohler, J. L., Berndt, S. I. & 25 others, McDonnell, S. K., Kittles, R., Rybicki, B. A., Freedman, M., Kantoff, P. W., Pomerantz, M., Breyer, J. P., Smith, J. R., Rebbeck, T. R., Mercola, D., Isaacs, W. B., Wiklund, F., Cussenot, O., Thibodeau, S. N., Schaid, D. J., Cannon-Albright, L., Cooney, K. A., Chanock, S. J., Stanford, J. L., Chan, J. M., Witte, J., Xu, J., Bensen, J. T., Taylor, J. A. & Catalona, W. J., Mar 10 2015, In : Human genetics. 134, 4, p. 439-450 12 p.

Research output: Contribution to journalArticle

22 Scopus citations

A study of aqueous humor formation in patients with cystic fibrosis

McCannel, C. A., Scanlon, P. D., Thibodeau, S. & Brubaker, R. F., Jan 1 1992, In : Investigative Ophthalmology and Visual Science. 33, 1, p. 160-164 5 p.

Research output: Contribution to journalArticle

16 Scopus citations

Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

Gusev, A., Shi, H., Kichaev, G., Pomerantz, M., Li, F., Long, H. W., Ingles, S. A., Kittles, R. A., Strom, S. S., Rybicki, B. A., Nemesure, B., Isaacs, W. B., Zheng, W., Pettaway, C. A., Yeboah, E. D., Tettey, Y., Biritwum, R. B., Adjei, A. A., Tay, E., Truelove, A. & 108 others, Niwa, S., Chokkalingam, A. P., John, E. M., Murphy, A. B., Signorello, L. B., Carpten, J., Leske, M. C., Wu, S. Y., Hennis, A. J. M., Neslund-Dudas, C., Hsing, A. W., Chu, L., Goodman, P. J., Klein, E. A., Witte, J. S., Casey, G., Kaggwa, S., Cook, M. B., Stram, D. O., Blot, W. J., Eeles, R. A., Easton, D., Kote-Jarai, Z., Al Olama, A. A., Benlloch, S., Muir, K., Giles, G. G., Southey, M. C., Fitzgerald, L. M., Gronberg, H., Wiklund, F., Aly, M., Henderson, B. E., Schleutker, J., Wahlfors, T., Tammela, T. L. J., Nordestgaard, B. G., Key, T. J., Travis, R. C., Neal, D. E., Donovan, J. L., Hamdy, F. C., Pharoah, P., Pashayan, N., Khaw, K. T., Stanford, J. L., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Maier, C., Vogel, W., Luedeke, M., Herkommer, K., Kibel, A. S., Cybulski, C., Wokolorczyk, D., Kluzniak, W., Cannon-Albright, L., Teerlink, C., Brenner, H., Dieffenbach, A. K., Arndt, V., Park, J. Y., Sellers, T. A., Lin, H. Y., Slavov, C., Kaneva, R., Mitev, V., Batra, J., Spurdle, A., Clements, J. A., Teixeira, M. R., Pandha, H., Michael, A., Paulo, P., Maia, S., Kierzek, A., Conti, D. V., Albanes, D., Berg, C., Berndt, S. I., Campa, D., Crawford, E. D., Diver, W. R., Gapstur, S. M., Gaziano, J. M., Giovannucci, E., Hoover, R., Hunter, D. J., Johansson, M., Kraft, P., Le Marchand, L., Lindström, S., Navarro, C., Overvad, K., Riboli, E., Siddiq, A., Stevens, V. L., Trichopoulos, D., Vineis, P., Yeager, M., Trynka, G., Raychaudhuri, S., Schumacher, F. R., Price, A. L., Freedman, M. L., Haiman, C. A. & Pasaniuc, B., Apr 7 2016, In : Nature Communications. 7, 10979.

Research output: Contribution to journalArticle

21 Scopus citations

A transposon-based genetic screen in mice identifies genes altered in colorectal cancer

Starr, T. K., Allaei, R., Silverstein, K. A. T., Staggs, R. A., Sarver, A. L., Bergemann, T. L., Gupta, M., Gerard O'Sullivan, M., Matise, I., Dupuy, A. J., Collier, L. S., Powers, S., Oberg, A. L., Asmann, Y. W., Thibodeau, S. N., Tessarollo, L., Copeland, N. G., Jenkins, N. A., Cormier, R. T. & Largaespada, D. A., Mar 27 2009, In : Science. 323, 5922, p. 1747-1750 4 p.

Research output: Contribution to journalArticle

250 Scopus citations

Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7

Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H. & Thibodeau, S. N., Jul 1 1993, In : Human molecular genetics. 2, 7, p. 869-873 5 p.

Research output: Contribution to journalArticle

50 Scopus citations

Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors

Decker, B., Karyadi, D. M., Davis, B. W., Karlins, E., Tillmans, L. S., Stanford, J. L., Thibodeau, S. N. & Ostrander, E. A., Nov 5 2015, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

14 Scopus citations

Blood lipids and prostate cancer: a Mendelian randomization analysis

The PRACTICAL Consortium, Jun 1 2016, In : Cancer Medicine. 5, 6, p. 1125-1136 12 p.

Research output: Contribution to journalArticle

20 Scopus citations

Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes

Win, A. K., Dowty, J. G., English, D. R., Campbell, P. T., Young, J. P., Winship, I., MacRae, F. A., Lipton, L., Parry, S., Young, G. P., Buchanan, D. D., Martínez, M. E., Jacobs, E. T., Ahnen, D. J., Haile, R. W., Casey, G., Baron, J. A., Lindor, N. M., Thibodeau, S. N., Newcomb, P. A. & 5 others, Potter, J. D., Le Marchand, L., Gallinger, S., Hopper, J. L. & Jenkins, M. A., Jun 28 2011, In : British journal of cancer. 105, 1, p. 162-169 8 p.

Research output: Contribution to journalArticle

32 Scopus citations

Body mass index in early adulthood and endometrial cancer risk for mismatch repair gene mutation carriers

Win, A. K., Dowty, J. G., Antill, Y. C., English, D. R., Baron, J. A., Young, J. P., Giles, G. G., Southey, M. C., Winship, I., Lipton, L., Parry, S., Thibodeau, S. N., Haile, R. W., Gallinger, S., Le Marchand, L., Lindor, N. M., Newcomb, P. A., Hopper, J. L. & Jenkins, M. A., Apr 1 2011, In : Obstetrics and gynecology. 117, 4, p. 899-905 7 p.

Research output: Contribution to journalArticle

19 Scopus citations

BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair

Wang, L., Cunningham, J. M., Winters, J. L., Guenther, J. C., French, A. J., Boardman, L. A., Burgart, L. J., McDonnell, S. K., Schaid, D. J. & Thibodeau, S. N., Sep 1 2003, In : Cancer research. 63, 17, p. 5209-5212 4 p.

Research output: Contribution to journalArticle

231 Scopus citations

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

Domingo, E., Laiho, P., Ollikainen, M., Pinto, M., Wang, L., French, A. J., Westra, J., Frebourg, T., Espín, E., Armengol, M., Hamelin, R., Yamamoto, H., Hofstra, R. M. W., Seruca, R., Lindblom, A., Peltomäki, P., Thibodeau, S. N., Aaltonen, L. A. & Schwartz, S., Sep 1 2004, In : Journal of medical genetics. 41, 9, p. 664-668 5 p.

Research output: Contribution to journalArticle

276 Scopus citations

BRAF V600E disrupts AZD6244-induced abrogation of negative feedback pathways between extracellular signal-regulated kinase and Raf proteins

Friday, B. B., Yu, C., Dy, G. K., Smith, P. D., Wang, L., Thibodeau, S. N. & Adjei, A. A., Aug 1 2008, In : Cancer research. 68, 15, p. 6145-6153 9 p.

Research output: Contribution to journalArticle

111 Scopus citations

BRCA1 and BRCA2 have a limited role in familial prostate cancer

Sinclair, C. S., Berry, R., Schaid, D., Thibodeau, S. N. & Couch, F. J., Mar 1 2000, In : Cancer research. 60, 5, p. 1371-1375 5 p.

Research output: Contribution to journalArticle

54 Scopus citations

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

10 Scopus citations

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., ten Broeke, S. W., Plazzer, J. P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H. & 68 others, Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J. P., Nielsen, M. & Møller, P., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

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Open Access
11 Scopus citations

Cancer Risks for MLH1 and MSH2 Mutation Carriers

Dowty, J. G., Win, A. K., Buchanan, D. D., Lindor, N. M., Macrae, F. A., Clendenning, M., Antill, Y. C., Thibodeau, S. N., Casey, G., Gallinger, S., Marchand, L. L., Newcomb, P. A., Haile, R. W., Young, G. P., James, P. A., Giles, G. G., Gunawardena, S. R., Leggett, B. A., Gattas, M., Boussioutas, A. & 7 others, Ahnen, D. J., Baron, J. A., Parry, S., Goldblatt, J., Young, J. P., Hopper, J. L. & Jenkins, M. A., Mar 1 2013, In : Human mutation. 34, 3, p. 490-497 8 p.

Research output: Contribution to journalArticle

118 Scopus citations

Cancer Risks for PMS2-associated lynch syndrom

Broeke, S. W. T., Klift, H. M. V., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., Chapelle, A. D., Capella, G., Clendenning, M., Engel, C., Gallinger, S., Garcia, E. G., Figueiredo, J. C., Haile, R., Hampel, H. L., Hopper, J. L., Hoogerbrugge, N., Doeberitz, M. V. K., Marchand, L. L., Letteboer, T. G. W. & 28 others, Jenkins, M. A., Lindblom, A., Lindor, N. M., Mensenkamp, A. R., Møller, P., Newcomb, P. A., Van Os, T. A. M., Pearlman, R., Pineda, M., Rahner, N., Redeker, E. J. W., Olderode-Berends, M. J. W., Rosty, C., Schackert, H. K., Scott, R., Senter, L., Spruijt, L., Steinke-Lange, V., Suerink, M., Thibodeau, S. N., Vos, Y. J., Wagner, A., Winship, I., Hes, J. F., Vasen, H. F. A., Wijnen, J. T., Nielsen, M. & Win, A. K., Oct 10 2018, In : Journal of Clinical Oncology. 36, 29, p. 2961-2968 8 p.

Research output: Contribution to journalArticle

33 Scopus citations

Candidate-gene association studies with pedigree data: Controlling for environmental covariates

Slager, S. L., Schaid, D. J., Wang, L. & Thibodeau, S. N., May 1 2003, In : Genetic epidemiology. 24, 4, p. 273-283 11 p.

Research output: Contribution to journalArticle

15 Scopus citations

Carrier Identification of Cystic Fibrosis by Recombinant DNA Techniques

DAWSON, D. BRIAN., CUMMINS, LAURA. A., SCHAID, DANIEL. J., MICHELS, VIRGINIA. V., GORDON, HYMIE., O'CONNELL, EDWARD. J. & THIBODEAU, STEPHEN. N., Jan 1 1989, In : Mayo Clinic proceedings. 64, 3, p. 325-334 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism

Smith, K. J., Thompson, A. R., McMullen, B. A., Frazier, D., Lin, S. W., Stafford, D., Kisiel, W., Thibodeau, S. N., Chen, S. H. & Smith, L. F., Dec 1 1987, In : Blood. 70, 4, p. 1006-1013 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Case-control study of overweight, obesity, and colorectal cancer risk, overall and by tumor microsatellite instability status

Campbell, P. T., Jacobs, E. T., Ulrich, C. M., Figueiredo, J. C., Poynter, J. N., McLaughlin, J. R., Haile, R. W., Jacobs, E. J., Newcomb, P. A., Potter, J. D., Le Marchand, L., Green, R. C., Parfrey, P., Younghusband, H. B., Cotterchio, M., Gallinger, S., Jenkins, M. A., Hopper, J. L., Baron, J. A., Thibodeau, S. N. & 3 others, Lindor, N. M., Limburg, P. J. & Martínez, M. E., Mar 1 2010, In : Journal of the National Cancer Institute. 102, 6, p. 391-400 10 p.

Research output: Contribution to journalArticle

125 Scopus citations

Caution on pedigree haplotype inference with software that assumes linkage equilibrium.

Schaid, D. J., McDonnell, S. K., Wang, L., Cunningham, J. M. & Thibodeau, S. N., Oct 2002, In : American journal of human genetics. 71, 4, p. 992-995 4 p.

Research output: Contribution to journalLetter

Open Access
87 Scopus citations

CCAT2, a novel noncoding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer

Ling, H., Spizzo, R., Atlasi, Y., Nicoloso, M., Shimizu, M., Redis, R. S., Nishida, N., Gafà, R., Song, J., Guo, Z., Ivan, C., Barbarotto, E., De Vries, I., Zhang, X., Ferracin, M., Churchman, M., Van Galen, J. F., Beverloo, B. H., Shariati, M., Haderk, F. & 33 others, Estecio, M. R., Garcia-Manero, G., Patijn, G. A., Gotley, D. C., Bhardwaj, V., Shureiqi, I., Sen, S., Multani, A. S., Welsh, J., Yamamoto, K., Taniguchi, I., Song, M. A., Gallinger, S., Casey, G., Thibodeau, S. N., Le Marchand, L., Tiirikainen, M., Mani, S. A., Zhang, W., Davuluri, R. V., Mimori, K., Mori, M., Sieuwerts, A. M., Martens, J. W. M., Tomlinson, I., Negrini, M., Berindan-Neagoe, I., Foekens, J. A., Hamilton, S. R., Lanza, G., Kopetz, S., Fodde, R. & Calin, G. A., Sep 1 2013, In : Genome Research. 23, 9, p. 1446-1461 16 p.

Research output: Contribution to journalArticle

345 Scopus citations

Characterisation of Familial Colorectal Cancer Type X, Lynch syndrome, and non-familial colorectal cancer

Shiovitz, S., Copeland, W. K., Passarelli, M. N., Burnett-Hartman, A. N., Grady, W. M., Potter, J. D., Gallinger, S., Buchanan, D. D., Rosty, C., Win, A. K., Jenkins, M., Thibodeau, S. N., Haile, R., Baron, J. A., Marchand, L. L., Newcomb, P. A. & Lindor, N. M., Jul 29 2014, In : British journal of cancer. 111, 3, p. 598-602 5 p.

Research output: Contribution to journalArticle

23 Scopus citations
Open Access
1 Scopus citations

Characteristics Associated With Recruitment and Re-contact in Mayo Clinic Biobank

Hathcock, M. A., Kirt, C., Ryu, E., Bublitz, J., Gupta, R., Wang, L., Thibodeau, S. N., Larson, N. L., Cicek, M. S., Cerhan, J. R. & Olson, J. E., Feb 4 2020, In : Frontiers in Public Health. 8, 9.

Research output: Contribution to journalArticle

Open Access

Characterization of hMLH1 and hMSH2 gene dosage alterations in lynch syndrome patients

Baudhuin, L. M., Ferber, M. J., Winters, J. L., Steenblock, K. J., Swanson, R. L., French, A. J., Butz, M. L. & Thibodeau, S. N., Sep 2005, In : Gastroenterology. 129, 3, p. 846-854 9 p.

Research output: Contribution to journalArticle

34 Scopus citations

Characterization of human plasma-derived exosomal RNAs by deep sequencing

Huang, X., Yuan, T., Tschannen, M., Sun, Z., Jacob, H., Du, M., Liang, M., Dittmar, R. L., Liu, Y., Liang, M., Kohli, M., Thibodeau, S. N., Boardman, L. & Wang, L., May 10 2013, In : BMC genomics. 14, 1, 319.

Research output: Contribution to journalArticle

432 Scopus citations

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

Raskin, L., Schwenter, F., Freytsis, M., Tischkowitz, M., Wong, N., Chong, G., Narod, S. A., Levine, D. A., Bogomolniy, F., Aronson, M., Thibodeau, S. N., Hunt, K. S., Rennert, G., Gallinger, S., Gruber, S. B. & Foulkes, W. D., Jun 1 2011, In : Clinical Genetics. 79, 6, p. 512-522 11 p.

Research output: Contribution to journalArticle

22 Scopus citations

Childhood cancers in families with and without Lynch syndrome

Heath, J. A., Reece, J. C., Buchanan, D. D., Casey, G., Durno, C. A., Gallinger, S., Haile, R. W., Newcomb, P. A., Potter, J. D., Thibodeau, S. N., Le Marchand, L., Lindor, N. M., Hopper, J. L., Jenkins, M. A. & Win, A. K., May 12 2015, In : Familial Cancer. 14, 4, p. 545-551 7 p.

Research output: Contribution to journalArticle

1 Scopus citations

Cholecystectomy and the risk of colorectal cancer by tumor mismatch repair deficiency status

Shang, J., Reece, J. C., Buchanan, D. D., Giles, G. G., Figueiredo, J. C., Casey, G., Gallinger, S., Thibodeau, S. N., Lindor, N. M., Newcomb, P. A., Potter, J. D., Baron, J. A., Hopper, J. L., Jenkins, M. A. & Win, A. K., Aug 1 2016, In : International Journal of Colorectal Disease. 31, 8, p. 1451-1457 7 p.

Research output: Contribution to journalArticle

4 Scopus citations