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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer.
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
Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.
Kanth P, Grimmett J, Champine M, Burt R, Samadder NJ
Am J Gastroenterol 2017 Oct;112(10):1509-1525. Epub 2017 Aug 8 doi: 10.1038/ajg.2017.212. PMID: 28786406

Recent clinical studies

Etiology

Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032137. PMID: 36768460Free PMC Article
The rising tide of early-onset colorectal cancer: a comprehensive review of epidemiology, clinical features, biology, risk factors, prevention, and early detection.
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
Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer.
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
The aging-related risk signature in colorectal cancer.
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
Microsatellite instability in colorectal cancer.
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

Hereditary Colorectal Cancer.
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
The rising tide of early-onset colorectal cancer: a comprehensive review of epidemiology, clinical features, biology, risk factors, prevention, and early detection.
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
Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer.
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
The aging-related risk signature in colorectal cancer.
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
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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

Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer.
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
Adiposity, metabolites, and colorectal cancer risk: Mendelian randomization study.
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
Diabetes and cancer risk: A Mendelian randomization study.
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
IL-23 in inflammatory bowel diseases and colon cancer.
Neurath MF
Cytokine Growth Factor Rev 2019 Feb;45:1-8. Epub 2018 Dec 12 doi: 10.1016/j.cytogfr.2018.12.002. PMID: 30563755
Multitarget stool DNA testing for colorectal-cancer screening.
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

The rising tide of early-onset colorectal cancer: a comprehensive review of epidemiology, clinical features, biology, risk factors, prevention, and early detection.
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
Role of oncogenic KRAS in the prognosis, diagnosis and treatment of colorectal cancer.
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
The aging-related risk signature in colorectal cancer.
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
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
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
Microsatellite instability in colorectal cancer.
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

Genomic landscape of colorectal carcinogenesis.
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
The aging-related risk signature in colorectal cancer.
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
Deep learning model for the prediction of microsatellite instability in colorectal cancer: a diagnostic study.
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
Genetic Risk Score, Combined Lifestyle Factors and Risk of Colorectal Cancer.
Cho YA, Lee J, Oh JH, Chang HJ, Sohn DK, Shin A, Kim J
Cancer Res Treat 2019 Jul;51(3):1033-1040. Epub 2018 Oct 18 doi: 10.4143/crt.2018.447. PMID: 30336659Free PMC Article
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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

Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.
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
Microwave Ablation, Radiofrequency Ablation, Irreversible Electroporation, and Stereotactic Ablative Body Radiotherapy for Intermediate Size (3-5 cm) Unresectable Colorectal Liver Metastases: a Systematic Review and Meta-analysis.
Nieuwenhuizen S, Dijkstra M, Puijk RS, Geboers B, Ruarus AH, Schouten EA, Nielsen K, de Vries JJJ, Bruynzeel AME, Scheffer HJ, van den Tol MP, Haasbeek CJA, Meijerink MR
Curr Oncol Rep 2022 Jun;24(6):793-808. Epub 2022 Mar 17 doi: 10.1007/s11912-022-01248-6. PMID: 35298796Free PMC Article
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.
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
Genetic variation of clock genes and cancer risk: a field synopsis and meta-analysis.
Benna C, Helfrich-Förster C, Rajendran S, Monticelli H, Pilati P, Nitti D, Mocellin S
Oncotarget 2017 Apr 4;8(14):23978-23995. doi: 10.18632/oncotarget.15074. PMID: 28177907Free PMC Article
Causal inference in obesity research.
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

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