APC c.136-4672A>G

Variant ID: 5-112097351-A-G

NM_000038.5(APC):c.136-4672A>G

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Assessment of Body Mass Index, Polygenic Risk Score, and Development of Colorectal Cancer.

Jama Network Open
Chen, Xuechen X; Li, Hengjing H; Mandic, Marko M; Hoffmeister, Michael M; Brenner, Hermann H
Publication Date: 2022-12-01

Variant appearance in text: rs755229494
PubMed Link: 36547977
Variant Present in the following documents:
  • jamanetwopen-e2248447-s001.pdf
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Association between germline variants and somatic mutations in colorectal cancer.

Scientific Reports
Barfield, Richard R; Qu, Conghui C; Steinfelder, Robert S RS; Zeng, Chenjie C; Harrison, Tabitha A TA; Brezina, Stefanie S; Buchanan, Daniel D DD; Campbell, Peter T PT; Casey, Graham G; Gallinger, Steven S; Giannakis, Marios M; Gruber, Stephen B SB; Gsur, Andrea A; Hsu, Li L; Huyghe, Jeroen R JR; Moreno, Victor V; Newcomb, Polly A PA; Ogino, Shuji S; Phipps, Amanda I AI; Slattery, Martha L ML; Thibodeau, Stephen N SN; Trinh, Quang M QM; Toland, Amanda E AE; Hudson, Thomas J TJ; Sun, Wei W; Zaidi, Syed H SH; Peters, Ulrike U
Publication Date: 2022-06-17

Variant appearance in text: rs755229494
PubMed Link: 35715570
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_14408.pdf
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Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE.

Preventive Medicine Reports
Jantzen, Rodolphe R; Payette, Yves Y; de Malliard, Thibault T; Labbé, Catherine C; Noisel, Nolwenn N; Broët, Philippe P
Publication Date: 2022-02

Variant appearance in text: rs755229494
PubMed Link: 35127357
Variant Present in the following documents:
  • Main text
  • main.pdf
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Polygenic risk score across distinct colorectal cancer screening outcomes: from premalignant polyps to colorectal cancer.

Bmc Medicine
Obón-Santacana, Mireia M; Díez-Villanueva, Anna A; Alonso, Maria Henar MH; Ibáñez-Sanz, Gemma G; Guinó, Elisabet E; López, Ana A; Rodríguez-Alonso, Lorena L; Mata, Alfredo A; García-Rodríguez, Ana A; Palomo, Andrés García AG; Molina, Antonio J AJ; Garcia, Montse M; Binefa, Gemma G; Martín, Vicente V; Moreno, Victor V
Publication Date: 2021-11-08

Variant appearance in text: rs755229494
PubMed Link: 34743725
Variant Present in the following documents:
  • Main text
  • 12916_2021_Article_2134.pdf
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Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.

Cancers
Mur, Pilar P; Bonifaci, Nuria N; Díez-Villanueva, Anna A; Munté, Elisabet E; Alonso, Maria Henar MH; Obón-Santacana, Mireia M; Aiza, Gemma G; Navarro, Matilde M; Piñol, Virginia V; Brunet, Joan J; Tomlinson, Ian I; Capellá, Gabriel G; Moreno, Victor V; Valle, Laura L
Publication Date: 2021-07-31

Variant appearance in text: rs755229494
PubMed Link: 34359758
Variant Present in the following documents:
  • Main text
  • cancers-13-03857.pdf
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Genetic architectures of proximal and distal colorectal cancer are partly distinct.

Gut
Huyghe, Jeroen R JR; Harrison, Tabitha A TA; Bien, Stephanie A SA; Hampel, Heather H; Figueiredo, Jane C JC; Schmit, Stephanie L SL; Conti, David V DV; Chen, Sai S; Qu, Conghui C; Lin, Yi Y; Barfield, Richard R; Baron, John A JA; Cross, Amanda J AJ; Diergaarde, Brenda B; Duggan, David D; Harlid, Sophia S; Imaz, Liher L; Kang, Hyun Min HM; Levine, David M DM; Perduca, Vittorio V; Perez-Cornago, Aurora A; Sakoda, Lori C LC; Schumacher, Fredrick R FR; Slattery, Martha L ML; Toland, Amanda E AE; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Agudo, Antonio A; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Banbury, Barbara L BL; Bassik, Michael C MC; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Boutron-Ruault, Marie-Christine MC; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Caan, Bette J BJ; Campbell, Peter T PT; Carr, Prudence R PR; Castells, Antoni A; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Curtis, Keith R KR; de la Chapelle, Albert A; Easton, Douglas F DF; English, Dallas R DR; Feskens, Edith J M EJM; Gala, Manish M; Gallinger, Steven J SJ; Gauderman, W James WJ; Giles, Graham G GG; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Jenab, Mazda M; Jenkins, Mark A MA; Joshi, Amit D AD; Keku, Temitope O TO; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Le Marchand, Loic L; Lejbkowicz, Flavio F; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lindblom, Annika A; Lindor, Noralane M NM; Männistö, Satu S; Markowitz, Sanford D SD; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Nassir, Rami R; Offit, Kenneth K; Ogino, Shuji S; Panico, Salvatore S; Parfrey, Patrick S PS; Pearlman, Rachel R; Pharoah, Paul D P PDP; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Prentice, Ross L RL; Qi, Lihong L; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Song, Mingyang M; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Scacheri, Peter C PC; Kundaje, Anshul A; Casey, Graham G; Gruber, Stephen B SB; Hsu, Li L; Moreno, Victor V; Hayes, Richard B RB; Newcomb, Polly A PA; Peters, Ulrike U
Publication Date: 2021-07

Variant appearance in text: rs755229494
PubMed Link: 33632709
Variant Present in the following documents:
  • gutjnl-2020-321534.pdf
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Genetic architectures of proximal and distal colorectal cancer are partly distinct.

Gut
Huyghe, Jeroen R JR; Harrison, Tabitha A TA; Bien, Stephanie A SA; Hampel, Heather H; Figueiredo, Jane C JC; Schmit, Stephanie L SL; Conti, David V DV; Chen, Sai S; Qu, Conghui C; Lin, Yi Y; Barfield, Richard R; Baron, John A JA; Cross, Amanda J AJ; Diergaarde, Brenda B; Duggan, David D; Harlid, Sophia S; Imaz, Liher L; Kang, Hyun Min HM; Levine, David M DM; Perduca, Vittorio V; Perez-Cornago, Aurora A; Sakoda, Lori C LC; Schumacher, Fredrick R FR; Slattery, Martha L ML; Toland, Amanda E AE; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Agudo, Antonio A; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Banbury, Barbara L BL; Bassik, Michael C MC; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Boutron-Ruault, Marie-Christine MC; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Caan, Bette J BJ; Campbell, Peter T PT; Carr, Prudence R PR; Castells, Antoni A; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Curtis, Keith R KR; de la Chapelle, Albert A; Easton, Douglas F DF; English, Dallas R DR; Feskens, Edith J M EJM; Gala, Manish M; Gallinger, Steven J SJ; Gauderman, W James WJ; Giles, Graham G GG; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Jenab, Mazda M; Jenkins, Mark A MA; Joshi, Amit D AD; Keku, Temitope O TO; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Le Marchand, Loic L; Lejbkowicz, Flavio F; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lindblom, Annika A; Lindor, Noralane M NM; Männistö, Satu S; Markowitz, Sanford D SD; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Nassir, Rami R; Offit, Kenneth K; Ogino, Shuji S; Panico, Salvatore S; Parfrey, Patrick S PS; Pearlman, Rachel R; Pharoah, Paul D P PDP; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Prentice, Ross L RL; Qi, Lihong L; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Song, Mingyang M; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Scacheri, Peter C PC; Kundaje, Anshul A; Casey, Graham G; Gruber, Stephen B SB; Hsu, Li L; Moreno, Victor V; Hayes, Richard B RB; Newcomb, Polly A PA; Peters, Ulrike U
Publication Date: 2021-07

Variant appearance in text: rs755229494
PubMed Link: 33632709
Variant Present in the following documents:
  • gutjnl-2020-321534.pdf
View BVdb publication page



Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer.

Gastroenterology
Archambault, Alexi N AN; Su, Yu-Ru YR; Jeon, Jihyoun J; Thomas, Minta M; Lin, Yi Y; Conti, David V DV; Win, Aung Ko AK; Sakoda, Lori C LC; Lansdorp-Vogelaar, Iris I; Peterse, Elisabeth F P EFP; Zauber, Ann G AG; Duggan, David D; Holowatyj, Andreana N AN; Huyghe, Jeroen R JR; Brenner, Hermann H; Cotterchio, Michelle M; Bézieau, Stéphane S; Schmit, Stephanie L SL; Edlund, Christopher K CK; Southey, Melissa C MC; MacInnis, Robert J RJ; Campbell, Peter T PT; Chang-Claude, Jenny J; Slattery, Martha L ML; Chan, Andrew T AT; Joshi, Amit D AD; Song, Mingyang M; Cao, Yin Y; Woods, Michael O MO; White, Emily E; Weinstein, Stephanie J SJ; Ulrich, Cornelia M CM; Hoffmeister, Michael M; Bien, Stephanie A SA; Harrison, Tabitha A TA; Hampe, Jochen J; Li, Christopher I CI; Schafmayer, Clemens C; Offit, Kenneth K; Pharoah, Paul D PD; Moreno, Victor V; Lindblom, Annika A; Wolk, Alicja A; Wu, Anna H AH; Li, Li L; Gunter, Marc J MJ; Gsur, Andrea A; Keku, Temitope O TO; Pearlman, Rachel R; Bishop, D Timothy DT; Castellví-Bel, Sergi S; Moreira, Leticia L; Vodicka, Pavel P; Kampman, Ellen E; Giles, Graham G GG; Albanes, Demetrius D; Baron, John A JA; Berndt, Sonja I SI; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Trichopoulou, Antonia A; Severi, Gianluca G; Chirlaque, María-Dolores MD; Sánchez, Maria-José MJ; Palli, Domenico D; Kühn, Tilman T; Murphy, Neil N; Cross, Amanda J AJ; Burnett-Hartman, Andrea N AN; Chanock, Stephen J SJ; de la Chapelle, Albert A; Easton, Douglas F DF; Elliott, Faye F; English, Dallas R DR; Feskens, Edith J M EJM; FitzGerald, Liesel M LM; Goodman, Phyllis J PJ; Hopper, John L JL; Hudson, Thomas J TJ; Hunter, David J DJ; Jacobs, Eric J EJ; Joshu, Corinne E CE; Küry, Sébastien S; Markowitz, Sanford D SD; Milne, Roger L RL; Platz, Elizabeth A EA; Rennert, Gad G; Rennert, Hedy S HS; Schumacher, Fredrick R FR; Sandler, Robert S RS; Seminara, Daniela D; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Toland, Amanda E AE; van Duijnhoven, Franzel J B FJB; Visvanathan, Kala K; Vodickova, Ludmila L; Potter, John D JD; Männistö, Satu S; Weigl, Korbinian K; Figueiredo, Jane J; Martín, Vicente V; Larsson, Susanna C SC; Parfrey, Patrick S PS; Huang, Wen-Yi WY; Lenz, Heinz-Josef HJ; Castelao, Jose E JE; Gago-Dominguez, Manuela M; Muñoz-Garzón, Victor V; Mancao, Christoph C; Haiman, Christopher A CA; Wilkens, Lynne R LR; Siegel, Erin E; Barry, Elizabeth E; Younghusband, Ban B; Van Guelpen, Bethany B; Harlid, Sophia S; Zeleniuch-Jacquotte, Anne A; Liang, Peter S PS; Du, Mengmeng M; Casey, Graham G; Lindor, Noralane M NM; Le Marchand, Loic L; Gallinger, Steven J SJ; Jenkins, Mark A MA; Newcomb, Polly A PA; Gruber, Stephen B SB; Schoen, Robert E RE; Hampel, Heather H; Corley, Douglas A DA; Hsu, Li L; Peters, Ulrike U; Hayes, Richard B RB
Publication Date: 2020-04

Variant appearance in text: rs755229494
PubMed Link: 31866242
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of common and rare genetic risk variants for colorectal cancer.

Nature Genetics
Huyghe, Jeroen R JR; Bien, Stephanie A SA; Harrison, Tabitha A TA; Kang, Hyun Min HM; Chen, Sai S; Schmit, Stephanie L SL; Conti, David V DV; Qu, Conghui C; Jeon, Jihyoun J; Edlund, Christopher K CK; Greenside, Peyton P; Wainberg, Michael M; Schumacher, Fredrick R FR; Smith, Joshua D JD; Levine, David M DM; Nelson, Sarah C SC; Sinnott-Armstrong, Nasa A NA; Albanes, Demetrius D; Alonso, M Henar MH; Anderson, Kristin K; Arnau-Collell, Coral C; Arndt, Volker V; Bamia, Christina C; Banbury, Barbara L BL; Baron, John A JA; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Boehm, Juergen J; Boeing, Heiner H; Brenner, Hermann H; Brezina, Stefanie S; Buch, Stephan S; Buchanan, Daniel D DD; Burnett-Hartman, Andrea A; Butterbach, Katja K; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Castellví-Bel, Sergi S; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chirlaque, Maria-Dolores MD; Cho, Sang Hee SH; Connolly, Charles M CM; Cross, Amanda J AJ; Cuk, Katarina K; Curtis, Keith R KR; de la Chapelle, Albert A; Doheny, Kimberly F KF; Duggan, David D; Easton, Douglas F DF; Elias, Sjoerd G SG; Elliott, Faye F; English, Dallas R DR; Feskens, Edith J M EJM; Figueiredo, Jane C JC; Fischer, Rocky R; FitzGerald, Liesel M LM; Forman, David D; Gala, Manish M; Gallinger, Steven S; Gauderman, W James WJ; Giles, Graham G GG; Gillanders, Elizabeth E; Gong, Jian J; Goodman, Phyllis J PJ; Grady, William M WM; Grove, John S JS; Gsur, Andrea A; Gunter, Marc J MJ; Haile, Robert W RW; Hampe, Jochen J; Hampel, Heather H; Harlid, Sophia S; Hayes, Richard B RB; Hofer, Philipp P; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Wan-Ling WL; Huang, Wen-Yi WY; Hudson, Thomas J TJ; Hunter, David J DJ; Ibañez-Sanz, Gemma G; Idos, Gregory E GE; Ingersoll, Roxann R; Jackson, Rebecca D RD; Jacobs, Eric J EJ; Jenkins, Mark A MA; Joshi, Amit D AD; Joshu, Corinne E CE; Keku, Temitope O TO; Key, Timothy J TJ; Kim, Hyeong Rok HR; Kobayashi, Emiko E; Kolonel, Laurence N LN; Kooperberg, Charles C; Kühn, Tilman T; Küry, Sébastien S; Kweon, Sun-Seog SS; Larsson, Susanna C SC; Laurie, Cecelia A CA; Le Marchand, Loic L; Leal, Suzanne M SM; Lee, Soo Chin SC; Lejbkowicz, Flavio F; Lemire, Mathieu M; Li, Christopher I CI; Li, Li L; Lieb, Wolfgang W; Lin, Yi Y; Lindblom, Annika A; Lindor, Noralane M NM; Ling, Hua H; Louie, Tin L TL; Männistö, Satu S; Markowitz, Sanford D SD; Martín, Vicente V; Masala, Giovanna G; McNeil, Caroline E CE; Melas, Marilena M; Milne, Roger L RL; Moreno, Lorena L; Murphy, Neil N; Myte, Robin R; Naccarati, Alessio A; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Onland-Moret, N Charlotte NC; Pardini, Barbara B; Parfrey, Patrick S PS; Pearlman, Rachel R; Perduca, Vittorio V; Pharoah, Paul D P PDP; Pinchev, Mila M; Platz, Elizabeth A EA; Prentice, Ross L RL; Pugh, Elizabeth E; Raskin, Leon L; Rennert, Gad G; Rennert, Hedy S HS; Riboli, Elio E; Rodríguez-Barranco, Miguel M; Romm, Jane J; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Seminara, Daniela D; Shah, Mitul M; Shelford, Tameka T; Shin, Min-Ho MH; Shulman, Katerina K; Sieri, Sabina S; Slattery, Martha L ML; Southey, Melissa C MC; Stadler, Zsofia K ZK; Stegmaier, Christa C; Su, Yu-Ru YR; Tangen, Catherine M CM; Thibodeau, Stephen N SN; Thomas, Duncan C DC; Thomas, Sushma S SS; Toland, Amanda E AE; Trichopoulou, Antonia A; Ulrich, Cornelia M CM; Van Den Berg, David J DJ; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; van Kranen, Henk H; Vijai, Joseph J; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Win, Aung Ko AK; Wolf, C Roland CR; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zaidi, Syed H SH; Zanke, Brent W BW; Zhang, Qing Q; Zheng, Wei W; Scacheri, Peter C PC; Potter, John D JD; Bassik, Michael C MC; Kundaje, Anshul A; Casey, Graham G; Moreno, Victor V; Abecasis, Goncalo R GR; Nickerson, Deborah A DA; Gruber, Stephen B SB; Hsu, Li L; Peters, Ulrike U
Publication Date: 2019-01

Variant appearance in text: rs755229494
PubMed Link: 30510241
Variant Present in the following documents:
  • Main text
  • nihms-1510322.pdf
View BVdb publication page