Publications:

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Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals Of Coloproctology

Kim, Jin Cheon JC; Bodmer, Walter F WF

Publication Date: 2021-12

Variant appearance in text: rs992157

PubMed Link: 34961301

Variant Present in the following documents:

• Main text
• ac-2021-00878-0125.pdf

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Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals Of Coloproctology

Kim, Jin Cheon JC; Bodmer, Walter F WF

Publication Date: 2021-12

Variant appearance in text: rs992157

PubMed Link: 34961301

Variant Present in the following documents:

• Main text
• ac-2021-00878-0125.pdf

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Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.

Oncology Letters

Forgacova, Natalia N; Gazdarica, Juraj J; Budis, Jaroslav J; Radvanszky, Jan J; Szemes, Tomas T

Publication Date: 2021-11

Variant appearance in text: rs992157

PubMed Link: 34594420

Variant Present in the following documents:

• Main text
• ol-22-05-13040.pdf

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs992157

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs992157

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

Journal Of Medical Genetics

Arnau-Collell, Coral C; Soares de Lima, Yasmin Y; Díaz-Gay, Marcos M; Muñoz, Jenifer J; Carballal, Sabela S; Bonjoch, Laia L; Moreira, Leticia L; Lozano, Juan José JJ; Ocaña, Teresa T; Cuatrecasas, Miriam M; Díaz de Bustamante, Aranzazu A; Castells, Antoni A; Capellà, Gabriel G; Bujanda, Luis L; Cubiella, Joaquin J; Rodríguez-Alcalde, Daniel D; Balaguer, Francesc F; Ruiz-Ponte, Clara C; Valle, Laura L; Moreno, Victor V; Castellvi-Bel, Sergi S

Publication Date: 2020-10

Variant appearance in text: rs992157

PubMed Link: 32170005

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106374.pdf

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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers

Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C

Publication Date: 2019-07-30

Variant appearance in text: rs992157

PubMed Link: 31366136

Variant Present in the following documents:

• cancers-11-01081-s001.pdf

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Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Human Genetics

Bien, Stephanie A SA; Su, Yu-Ru YR; Conti, David V DV; Harrison, Tabitha A TA; Qu, Conghui C; Guo, Xingyi X; Lu, Yingchang Y; Albanes, Demetrius D; Auer, Paul L PL; Banbury, Barbara L BL; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Buchanan, Daniel D DD; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Chan, Andrew T AT; Chang-Claude, Jenny J; Chen, Sai S; Connolly, Charles M CM; Easton, Douglas F DF; Feskens, Edith J M EJM; Gallinger, Steven S; Giles, Graham G GG; Gunter, Marc J MJ; Hampe, Jochen J; Huyghe, Jeroen R JR; Hoffmeister, Michael M; Hudson, Thomas J TJ; Jacobs, Eric J EJ; Jenkins, Mark A MA; Kampman, Ellen E; Kang, Hyun Min HM; Kühn, Tilman T; Küry, Sébastien S; Lejbkowicz, Flavio F; Le Marchand, Loic L; Milne, Roger L RL; Li, Li L; Li, Christopher I CI; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; McNeil, Caroline E CE; Melas, Marilena M; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Pharaoh, Paul D P PDP; Potter, John D JD; Qu, Chenxu C; Riboli, Elio E; Rennert, Gad G; Sala, Núria N; Schafmayer, Clemens C; Scacheri, Peter C PC; Schmit, Stephanie L SL; Severi, Gianluca G; Slattery, Martha L ML; Smith, Joshua D JD; Trichopoulou, Antonia A; Tumino, Rosario R; Ulrich, Cornelia M CM; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Casey, Graham G; Nickerson, Deborah A DA; Gruber, Stephen B SB; Hsu, Li L; Zheng, Wei W; Peters, Ulrike U

Publication Date: 2019-04

Variant appearance in text: rs992157

PubMed Link: 30820706

Variant Present in the following documents:

• Main text
• 439_2019_Article_1989.pdf

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Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

Gastroenterology

Lu, Yingchang Y; Kweon, Sun-Seog SS; Tanikawa, Chizu C; Jia, Wei-Hua WH; Xiang, Yong-Bing YB; Cai, Qiuyin Q; Zeng, Chenjie C; Schmit, Stephanie L SL; Shin, Aesun A; Matsuo, Keitaro K; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Kim, Jeongseon J; Wen, Wanqing W; Shi, Jiajun J; Guo, Xingyi X; Li, Bingshan B; Wang, Nan N; Zhang, Ben B; Li, Xinxiang X; Shin, Min-Ho MH; Li, Hong-Lan HL; Ren, Zefang Z; Oh, Jae Hwan JH; Oze, Isao I; Ahn, Yoon-Ok YO; Jung, Keum Ji KJ; Conti, David V DV; Schumacher, Fredrick R FR; Rennert, Gad G; Jenkins, Mark A MA; Campbell, Peter T PT; Hoffmeister, Michael M; Casey, Graham G; Gruber, Stephen B SB; Gao, Jing J; Gao, Yu-Tang YT; Pan, Zhi-Zhong ZZ; Kamatani, Yoichiro Y; Zeng, Yi-Xin YX; Shu, Xiao-Ou XO; Long, Jirong J; Matsuda, Koichi K; Zheng, Wei W

Publication Date: 2019-04

Variant appearance in text: rs992157

PubMed Link: 30529582

Variant Present in the following documents:

• Main text

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Precision Medicine for CRC Patients in the Veteran Population: State-of-the-Art, Challenges and Research Directions.

Digestive Diseases And Sciences

Mohapatra, Shyam S SS; Batra, Surinder K SK; Bharadwaj, Srinivas S; Bouvet, Michael M; Cosman, Bard B; Goel, Ajay A; Jogunoori, Wilma W; Kelley, Michael J MJ; Mishra, Lopa L; Mishra, Bibhuti B; Mohapatra, Subhra S; Patel, Bhaumik B; Pisegna, Joseph R JR; Raufman, Jean-Pierre JP; Rao, Shuyun S; Roy, Hemant H; Scheuner, Maren M; Singh, Satish S; Vidyarthi, Gitanjali G; White, Jon J

Publication Date: 2018-05

Variant appearance in text: rs992157

PubMed Link: 29572615

Variant Present in the following documents:

• Main text
• 10620_2018_Article_5000.pdf

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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

International Journal Of Cancer

Tanskanen, Tomas T; van den Berg, Linda L; Välimäki, Niko N; Aavikko, Mervi M; Ness-Jensen, Eivind E; Hveem, Kristian K; Wettergren, Yvonne Y; Bexe Lindskog, Elinor E; Tõnisson, Neeme N; Metspalu, Andres A; Silander, Kaisa K; Orlando, Giulia G; Law, Philip J PJ; Tuupanen, Sari S; Gylfe, Alexandra E AE; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Kondelin, Johanna J; Sarin, Antti-Pekka AP; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Ripatti, Samuli S; Palotie, Aarno A; Järvinen, Heikki H; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Al-Tassan, Nada A NA; Palles, Claire C; Martin, Lynn L; Barclay, Ella E; Tenesa, Albert A; Farrington, Susan M SM; Timofeeva, Maria N MN; Meyer, Brian F BF; Wakil, Salma M SM; Campbell, Harry H; Smith, Christopher G CG; Idziaszczyk, Shelley S; Maughan, Tim S TS; Kaplan, Richard R; Kerr, Rachel R; Kerr, David D; Buchanan, Daniel D DD; Win, Aung K AK; Hopper, John J; Jenkins, Mark A MA; Newcomb, Polly A PA; Gallinger, Steve S; Conti, David D; Schumacher, Fredrick R FR; Casey, Graham G; Cheadle, Jeremy P JP; Dunlop, Malcolm G MG; Tomlinson, Ian P IP; Houlston, Richard S RS; Palin, Kimmo K; Aaltonen, Lauri A LA

Publication Date: 2018-02-01

Variant appearance in text: rs992157

PubMed Link: 28960316

Variant Present in the following documents:

• Main text

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Evaluation of genetic variants in association with colorectal cancer risk and survival in Asians.

International Journal Of Cancer

Wang, Nan N; Lu, Yingchang Y; Khankari, Nikhil K NK; Long, Jirong J; Li, Hong-Lan HL; Gao, Jing J; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO; Zheng, Wei W

Publication Date: 2017-09-15

Variant appearance in text: rs992157

PubMed Link: 28567967

Variant Present in the following documents:

• Main text

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Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.

Human Molecular Genetics

Orlando, Giulia G; Law, Philip J PJ; Palin, Kimmo K; Tuupanen, Sari S; Gylfe, Alexandra A; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Tanskanen, Tomas T; Kondelin, Johanna J; Kaasinen, Eevi E; Sarin, Antti-Pekka AP; Kaprio, Jaakko J; Eriksson, Johan G JG; Rissanen, Harri H; Knekt, Paul P; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Ripatti, Samuli S; Palotie, Aarno A; Järvinen, Heikki H; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Al-Tassan, Nada A NA; Palles, Claire C; Martin, Lynn L; Barclay, Ella E; Tenesa, Albert A; Farrington, Susan S; Timofeeva, Maria N MN; Meyer, Brian F BF; Wakil, Salma M SM; Campbell, Harry H; Smith, Christopher G CG; Idziaszczyk, Shelley S; Maughan, Timothy S TS; Kaplan, Richard R; Kerr, Rachel R; Kerr, David D; Buchanan, Daniel D DD; Win, Aung Ko AK; Hopper, John J; Jenkins, Mark M; Lindor, Noralane M NM; Newcomb, Polly A PA; Gallinger, Steve S; Conti, David D; Schumacher, Fred F; Casey, Graham G; Taipale, Jussi J; Cheadle, Jeremy P JP; Dunlop, Malcolm G MG; Tomlinson, Ian P IP; Aaltonen, Lauri A LA; Houlston, Richard S RS

Publication Date: 2016-06-01

Variant appearance in text: rs992157

PubMed Link: 27005424

Variant Present in the following documents:

• Main text
• ddw087.pdf

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Global analysis of the impact of environmental perturbation on cis-regulation of gene expression.

Plos Genetics

Grundberg, Elin E; Adoue, Veronique V; Kwan, Tony T; Ge, Bing B; Duan, Qing Ling QL; Lam, Kevin C L KC; Koka, Vonda V; Kindmark, Andreas A; Weiss, Scott T ST; Tantisira, Kelan K; Mallmin, Hans H; Raby, Benjamin A BA; Nilsson, Olle O; Pastinen, Tomi T

Publication Date: 2011-01-20

Variant appearance in text: rs992157

PubMed Link: 21283786

Variant Present in the following documents:

• Main text

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Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis.

Plos One

Hov, Johannes R JR; Keitel, Verena V; Laerdahl, Jon K JK; Spomer, Lina L; Ellinghaus, Eva E; ElSharawy, Abdou A; Melum, Espen E; Boberg, Kirsten M KM; Manke, Thomas T; Balschun, Tobias T; Schramm, Christoph C; Bergquist, Annika A; Weismüller, Tobias T; Gotthardt, Daniel D; Rust, Christian C; Henckaerts, Liesbet L; Onnie, Clive M CM; Weersma, Rinse K RK; Sterneck, Martina M; Teufel, Andreas A; Runz, Heiko H; Stiehl, Adolf A; Ponsioen, Cyriel Y CY; Wijmenga, Cisca C; Vatn, Morten H MH; , ; Stokkers, Pieter C F PC; Vermeire, Severine S; Mathew, Christopher G CG; Lie, Benedicte A BA; Beuers, Ulrich U; Manns, Michael P MP; Schreiber, Stefan S; Schrumpf, Erik E; Häussinger, Dieter D; Franke, Andre A; Karlsen, Tom H TH

Publication Date: 2010-08-25

Variant appearance in text: rs992157

PubMed Link: 20811628

Variant Present in the following documents:

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