Hereditary nonpolyposis colorectal cancer causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]Ali Akram, M.B.B.S.[3]

Overview

Hereditary nonpolyposis colorectal cancer is caused by germline mutations in one of the four MMR genes (MLH1, MSH2, MSH6, or PMS2), that results in defective repair of DNA sequence. Deletions in the EPCAM gene also cause hereditary nonpolyposis colorectal cancer.

Causes

Hereditary nonpolyposis colorectal cancer is caused by a genetic mutation in MMR gene, that results in defective repair of DNA sequence.^[1]^[2]
Deletions in the EPCAM gene, which can lead to MSH2 silencing, also cause hereditary nonpolyposis colorectal cancer.^[3]^[4]

References

↑ C. Richard Boland & Ajay Goel (2010). “Microsatellite instability in colorectal cancer”. Gastroenterology. 138 (6): 2073–2087. doi:10.1053/j.gastro.2009.12.064. PMID 20420947. Unknown parameter |month= ignored (help)
↑ Jing-wen Si, Li Wang, Xiao-jun Ba, Xu Zhang, Ying Dong, Ji-xin Zhang, Wen-ting Li & Ting Li (2015). “[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]”. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. 47 (5): 858–864. PMID 26474631. Unknown parameter |month= ignored (help)
↑ Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany C. Thomas, Kara A. Mensink, Steven Gallinger, Spring Holter, Polly A. Newcomb, John D. Potter, Mark A. Jenkins, John L. Hopper, Tiffany I. Long, Daniel J. Weisenberger, Robert W. Haile, Graham Casey, Peter W. Laird, Loic Le Marchand & Stephen N. Thibodeau (2011). “Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases”. The Journal of molecular diagnostics : JMD. 13 (1): 93–99. doi:10.1016/j.jmoldx.2010.11.011. PMID 21227399. Unknown parameter |month= ignored (help)
↑ Marlies J. E. Kempers, Roland P. Kuiper, Charlotte W. Ockeloen, Pierre O. Chappuis, Pierre Hutter, Nils Rahner, Hans K. Schackert, Verena Steinke, Elke Holinski-Feder, Monika Morak, Matthias Kloor, Reinhard Buttner, Eugene T. P. Verwiel, J. Han van Krieken, Iris D. Nagtegaal, Monique Goossens, Rachel S. van der Post, Renee C. Niessen, Rolf H. Sijmons, Irma Kluijt, Frans B. L. Hogervorst, Edward M. Leter, Johan J. P. Gille, Cora M. Aalfs, Egbert J. W. Redeker, Frederik J. Hes, Carli M. J. Tops, Bernadette P. M. van Nesselrooij, Marielle E. van Gijn, Encarna B. Gomez Garcia, Diana M. Eccles, David J. Bunyan, Sapna Syngal, Elena M. Stoffel, Julie O. Culver, Melanie R. Palomares, Tracy Graham, Lea Velsher, Janos Papp, Edith Olah, Tsun L. Chan, Suet Y. Leung, Ad Geurts van Kessel, Lambertus A. L. M. Kiemeney, Nicoline Hoogerbrugge & Marjolijn J. L. Ligtenberg (2011). “Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study”. The Lancet. Oncology. 12 (1): 49–55. doi:10.1016/S1470-2045(10)70265-5. PMID 21145788. Unknown parameter |month= ignored (help)

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[1] C. Richard Boland & Ajay Goel (2010). “Microsatellite instability in colorectal cancer”. Gastroenterology. 138 (6): 2073–2087. doi:10.1053/j.gastro.2009.12.064. PMID 20420947. Unknown parameter |month= ignored (help)

[2] Jing-wen Si, Li Wang, Xiao-jun Ba, Xu Zhang, Ying Dong, Ji-xin Zhang, Wen-ting Li & Ting Li (2015). “[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]”. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. 47 (5): 858–864. PMID 26474631. Unknown parameter |month= ignored (help)

[3] Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany C. Thomas, Kara A. Mensink, Steven Gallinger, Spring Holter, Polly A. Newcomb, John D. Potter, Mark A. Jenkins, John L. Hopper, Tiffany I. Long, Daniel J. Weisenberger, Robert W. Haile, Graham Casey, Peter W. Laird, Loic Le Marchand & Stephen N. Thibodeau (2011). “Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases”. The Journal of molecular diagnostics : JMD. 13 (1): 93–99. doi:10.1016/j.jmoldx.2010.11.011. PMID 21227399. Unknown parameter |month= ignored (help)

[4] Marlies J. E. Kempers, Roland P. Kuiper, Charlotte W. Ockeloen, Pierre O. Chappuis, Pierre Hutter, Nils Rahner, Hans K. Schackert, Verena Steinke, Elke Holinski-Feder, Monika Morak, Matthias Kloor, Reinhard Buttner, Eugene T. P. Verwiel, J. Han van Krieken, Iris D. Nagtegaal, Monique Goossens, Rachel S. van der Post, Renee C. Niessen, Rolf H. Sijmons, Irma Kluijt, Frans B. L. Hogervorst, Edward M. Leter, Johan J. P. Gille, Cora M. Aalfs, Egbert J. W. Redeker, Frederik J. Hes, Carli M. J. Tops, Bernadette P. M. van Nesselrooij, Marielle E. van Gijn, Encarna B. Gomez Garcia, Diana M. Eccles, David J. Bunyan, Sapna Syngal, Elena M. Stoffel, Julie O. Culver, Melanie R. Palomares, Tracy Graham, Lea Velsher, Janos Papp, Edith Olah, Tsun L. Chan, Suet Y. Leung, Ad Geurts van Kessel, Lambertus A. L. M. Kiemeney, Nicoline Hoogerbrugge & Marjolijn J. L. Ligtenberg (2011). “Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study”. The Lancet. Oncology. 12 (1): 49–55. doi:10.1016/S1470-2045(10)70265-5. PMID 21145788. Unknown parameter |month= ignored (help)

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