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Colorectal cancer, susceptibility to, 3(CRCS3)

MedGen UID:
436866
Concept ID:
C2677123
Finding
Synonyms: Colorectal cancer 3; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18
 
Gene (location): SMAD7 (18q21.1)
 
Monarch Initiative: MONDO:0012820
OMIM®: 612229

Definition

Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. [from MONDO]

Clinical features

From HPO
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.

Professional guidelines

PubMed

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C
Lancet Oncol 2023 Jan;24(1):91-106. Epub 2022 Nov 24 doi: 10.1016/S1470-2045(22)00643-X. PMID: 36436516Free PMC Article
Zhu G, Pei L, Xia H, Tang Q, Bi F
Mol Cancer 2021 Nov 6;20(1):143. doi: 10.1186/s12943-021-01441-4. PMID: 34742312Free PMC Article

Recent clinical studies

Etiology

Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Patel SG, Karlitz JJ, Yen T, Lieu CH, Boland CR
Lancet Gastroenterol Hepatol 2022 Mar;7(3):262-274. Epub 2022 Jan 26 doi: 10.1016/S2468-1253(21)00426-X. PMID: 35090605
Zhu G, Pei L, Xia H, Tang Q, Bi F
Mol Cancer 2021 Nov 6;20(1):143. doi: 10.1186/s12943-021-01441-4. PMID: 34742312Free PMC Article
Yue T, Chen S, Zhu J, Guo S, Huang Z, Wang P, Zuo S, Liu Y
Aging (Albany NY) 2021 Feb 26;13(5):7330-7349. doi: 10.18632/aging.202589. PMID: 33658390Free PMC Article
Boland CR, Goel A
Gastroenterology 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. PMID: 20420947Free PMC Article

Diagnosis

Hampel H, Kalady MF, Pearlman R, Stanich PP
Hematol Oncol Clin North Am 2022 Jun;36(3):429-447. Epub 2022 May 13 doi: 10.1016/j.hoc.2022.02.002. PMID: 35577708
Patel SG, Karlitz JJ, Yen T, Lieu CH, Boland CR
Lancet Gastroenterol Hepatol 2022 Mar;7(3):262-274. Epub 2022 Jan 26 doi: 10.1016/S2468-1253(21)00426-X. PMID: 35090605
Zhu G, Pei L, Xia H, Tang Q, Bi F
Mol Cancer 2021 Nov 6;20(1):143. doi: 10.1186/s12943-021-01441-4. PMID: 34742312Free PMC Article
Yue T, Chen S, Zhu J, Guo S, Huang Z, Wang P, Zuo S, Liu Y
Aging (Albany NY) 2021 Feb 26;13(5):7330-7349. doi: 10.18632/aging.202589. PMID: 33658390Free PMC Article
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S
J Clin Oncol 2017 Apr 1;35(10):1086-1095. Epub 2017 Jan 30 doi: 10.1200/JCO.2016.71.0012. PMID: 28135145Free PMC Article

Therapy

Yarmolinsky J, Díez-Obrero V, Richardson TG, Pigeyre M, Sjaarda J, Paré G, Walker VM, Vincent EE, Tan VY, Obón-Santacana M, Albanes D, Hampe J, Gsur A, Hampel H, Pai RK, Jenkins M, Gallinger S, Casey G, Zheng W, Amos CI; International Lung Cancer Consortium; PRACTICAL consortium; MEGASTROKE consortium, Smith GD, Martin RM, Moreno V
PLoS Med 2022 Feb;19(2):e1003897. Epub 2022 Feb 3 doi: 10.1371/journal.pmed.1003897. PMID: 35113855Free PMC Article
Zhu G, Pei L, Xia H, Tang Q, Bi F
Mol Cancer 2021 Nov 6;20(1):143. doi: 10.1186/s12943-021-01441-4. PMID: 34742312Free PMC Article
Bull CJ, Bell JA, Murphy N, Sanderson E, Davey Smith G, Timpson NJ, Banbury BL, Albanes D, Berndt SI, Bézieau S, Bishop DT, Brenner H, Buchanan DD, Burnett-Hartman A, Casey G, Castellví-Bel S, Chan AT, Chang-Claude J, Cross AJ, de la Chapelle A, Figueiredo JC, Gallinger SJ, Gapstur SM, Giles GG, Gruber SB, Gsur A, Hampe J, Hampel H, Harrison TA, Hoffmeister M, Hsu L, Huang WY, Huyghe JR, Jenkins MA, Joshu CE, Keku TO, Kühn T, Kweon SS, Le Marchand L, Li CI, Li L, Lindblom A, Martín V, May AM, Milne RL, Moreno V, Newcomb PA, Offit K, Ogino S, Phipps AI, Platz EA, Potter JD, Qu C, Quirós JR, Rennert G, Riboli E, Sakoda LC, Schafmayer C, Schoen RE, Slattery ML, Tangen CM, Tsilidis KK, Ulrich CM, van Duijnhoven FJB, van Guelpen B, Visvanathan K, Vodicka P, Vodickova L, Wang H, White E, Wolk A, Woods MO, Wu AH, Campbell PT, Zheng W, Peters U, Vincent EE, Gunter MJ
BMC Med 2020 Dec 17;18(1):396. doi: 10.1186/s12916-020-01855-9. PMID: 33327948Free PMC Article
Goto A, Yamaji T, Sawada N, Momozawa Y, Kamatani Y, Kubo M, Shimazu T, Inoue M, Noda M, Tsugane S, Iwasaki M
Int J Cancer 2020 Feb 1;146(3):712-719. Epub 2019 Apr 25 doi: 10.1002/ijc.32310. PMID: 30927373Free PMC Article
Imperiale TF, Ransohoff DF, Itzkowitz SH, Levin TR, Lavin P, Lidgard GP, Ahlquist DA, Berger BM
N Engl J Med 2014 Apr 3;370(14):1287-97. Epub 2014 Mar 19 doi: 10.1056/NEJMoa1311194. PMID: 24645800

Prognosis

Patel SG, Karlitz JJ, Yen T, Lieu CH, Boland CR
Lancet Gastroenterol Hepatol 2022 Mar;7(3):262-274. Epub 2022 Jan 26 doi: 10.1016/S2468-1253(21)00426-X. PMID: 35090605
Zhu G, Pei L, Xia H, Tang Q, Bi F
Mol Cancer 2021 Nov 6;20(1):143. doi: 10.1186/s12943-021-01441-4. PMID: 34742312Free PMC Article
Yue T, Chen S, Zhu J, Guo S, Huang Z, Wang P, Zuo S, Liu Y
Aging (Albany NY) 2021 Feb 26;13(5):7330-7349. doi: 10.18632/aging.202589. PMID: 33658390Free PMC Article
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article
Boland CR, Goel A
Gastroenterology 2010 Jun;138(6):2073-2087.e3. doi: 10.1053/j.gastro.2009.12.064. PMID: 20420947Free PMC Article

Clinical prediction guides

Xin J, Du M, Gu D, Jiang K, Wang M, Jin M, Hu Y, Ben S, Chen S, Shao W, Li S, Chu H, Zhu L, Li C, Chen K, Ding K, Zhang Z, Shen H, Wang M
Genome Med 2023 Jan 24;15(1):4. doi: 10.1186/s13073-023-01156-9. PMID: 36694225Free PMC Article
Kim JC, Bodmer WF
J Cancer Res Clin Oncol 2022 Mar;148(3):533-545. Epub 2022 Jan 20 doi: 10.1007/s00432-021-03888-w. PMID: 35048197
Yue T, Chen S, Zhu J, Guo S, Huang Z, Wang P, Zuo S, Liu Y
Aging (Albany NY) 2021 Feb 26;13(5):7330-7349. doi: 10.18632/aging.202589. PMID: 33658390Free PMC Article
Yamashita R, Long J, Longacre T, Peng L, Berry G, Martin B, Higgins J, Rubin DL, Shen J
Lancet Oncol 2021 Jan;22(1):132-141. doi: 10.1016/S1470-2045(20)30535-0. PMID: 33387492
Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S
Gastroenterology 2015 Sep;149(3):604-13.e20. Epub 2015 May 14 doi: 10.1053/j.gastro.2015.05.006. PMID: 25980754Free PMC Article

Recent systematic reviews

Dixon P, Keeney E, Taylor JC, Wordsworth S, Martin RM
Genet Med 2022 Aug;24(8):1604-1617. Epub 2022 May 16 doi: 10.1016/j.gim.2022.04.020. PMID: 35575786Free PMC Article
Belhadj S, Terradas M, Munoz-Torres PM, Aiza G, Navarro M, Capellá G, Valle L
Hum Mutat 2020 Sep;41(9):1563-1576. Epub 2020 Jul 28 doi: 10.1002/humu.24057. PMID: 32449991
Jansen AML, Goel A
Clin Gastroenterol Hepatol 2020 Aug;18(9):1949-1960. Epub 2020 Mar 5 doi: 10.1016/j.cgh.2020.02.049. PMID: 32147591Free PMC Article
Franks PW, Atabaki-Pasdar N
J Intern Med 2017 Mar;281(3):222-232. Epub 2016 Dec 8 doi: 10.1111/joim.12577. PMID: 27933671
Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421

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