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Carcinoma of colon(CRC)

MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
Synonyms: Colon cancer; Colon cancer, somatic; Colonic carcinoma; Colorectal cancer; Colorectal cancer, somatic; CRC; Rectal cancer, somatic
SNOMED CT: Carcinoma of colon (269533000)
 
Genes (locations): AKT1 (14q32.33); APC (5q22.2); AXIN2 (17q24.1); BUB1B (15q15.1); CTNNB1 (3p22.1); DCC (18q21.2); DLC1 (8p22); EP300 (22q13.2); FGFR3 (4p16.3); FLCN (17p11.2); NRAS (1p13.2); PIK3CA (3q26.32); SRC (20q11.23); TP53 (17p13.1)
Related genes: GALNT12, MLH3, TGFBR2, STK11, POLD1, PMS2, PMS1, MUTYH, MSH2, MLH1, SMAD7, SMAD4, EPCAM, MSH6, BMPR1A
OMIM®: 114500

Disease characteristics

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following lifetime risks for cancer are seen: CRC: 52%-82% (mean age at diagnosis 44-61 years). Endometrial cancer in females: 25%-60% (mean age at diagnosis 48-62 years). Gastric cancer: 6%-13% (mean age at diagnosis 56 years). Ovarian cancer: 4%-12% (mean age at diagnosis 42.5 years; ~30% are diagnosed < age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GeneReviews]
Authors:
Wendy Kohlmann  |  Stephen B Gruber   view full author information

Clinical features

Renal cell carcinoma, papillary, 1
MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850).
Neoplasm of stomach
MedGen UID:
20958
Concept ID:
C0038356
Neoplastic Process
In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer. Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see 120435), familial adenomatous polyposis (FAP; 175100), Peutz-Jeghers syndrome (PJS; 175200), Cowden disease (CD; 158350), and the Li-Fraumeni syndrome (151623). See also hereditary diffuse gastric cancer (HDGC; 137215). Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see 600263).
Transitional cell carcinoma of the bladder
MedGen UID:
76013
Concept ID:
C0279680
Neoplastic Process
The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
Uterine leiomyosarcoma
MedGen UID:
83679
Concept ID:
C0280631
Neoplastic Process
An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
MedGen UID:
429057
Concept ID:
CN005847

Term Hierarchy

Professional guidelines

PubMed

García-Alfonso P, García-Foncillas J, Salazar R, Pérez-Segura P, García-Carbonero R, Musulén-Palet E, Cuatrecasas M, Landolfi S, Ramón Y Cajal S, Navarro S; Spanish Society of Pathology.; Spanish Society of Medical Oncology.
Clin Transl Oncol 2015 Apr;17(4):264-73. Epub 2014 Nov 6 doi: 10.1007/s12094-014-1252-0. PMID: 25373533
Wong NA, Gonzalez D, Salto-Tellez M, Butler R, Diaz-Cano SJ, Ilyas M, Newman W, Shaw E, Taniere P, Walsh SV; Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
J Clin Pathol 2014 Sep;67(9):751-7. doi: 10.1136/jclinpath-2014-202467. PMID: 24996433
Duffy MJ, Lamerz R, Haglund C, Nicolini A, Kalousová M, Holubec L, Sturgeon C
Int J Cancer 2014 Jun 1;134(11):2513-22. Epub 2013 Aug 27 doi: 10.1002/ijc.28384. PMID: 23852704Free PMC Article
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2013 Jul;15(7):517-27. Epub 2013 Feb 21 doi: 10.1038/gim.2012.184. PMID: 23429431
Schmoll HJ, Van Cutsem E, Stein A, Valentini V, Glimelius B, Haustermans K, Nordlinger B, van de Velde CJ, Balmana J, Regula J, Nagtegaal ID, Beets-Tan RG, Arnold D, Ciardiello F, Hoff P, Kerr D, Köhne CH, Labianca R, Price T, Scheithauer W, Sobrero A, Tabernero J, Aderka D, Barroso S, Bodoky G, Douillard JY, El Ghazaly H, Gallardo J, Garin A, Glynne-Jones R, Jordan K, Meshcheryakov A, Papamichail D, Pfeiffer P, Souglakos I, Turhal S, Cervantes A
Ann Oncol 2012 Oct;23(10):2479-516. doi: 10.1093/annonc/mds236. PMID: 23012255
García-Alfonso P, Salazar R, García-Foncillas J, Musulén E, García-Carbonero R, Payá A, Pérez-Segura P, Ramón y Cajal S, Navarro S; Spanish Society of Medical Oncology (SEOM).; Spanish Society of Pathology (SEAP).
Clin Transl Oncol 2012 Oct;14(10):726-39. Epub 2012 Jul 27 doi: 10.1007/s12094-012-0856-5. PMID: 22855150
Febbo PG, Ladanyi M, Aldape KD, De Marzo AM, Hammond ME, Hayes DF, Iafrate AJ, Kelley RK, Marcucci G, Ogino S, Pao W, Sgroi DC, Birkeland ML
J Natl Compr Canc Netw 2011 Nov;9 Suppl 5:S1-32; quiz S33. PMID: 22138009
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2009 Jan;11(1):15-20. doi: 10.1097/GIM.0b013e31818efd9d. PMID: 19125128Free PMC Article
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2009 Jan;11(1):35-41. doi: 10.1097/GIM.0b013e31818fa2ff. PMID: 19125126Free PMC Article
Sturgeon CM, Duffy MJ, Stenman UH, Lilja H, Brünner N, Chan DW, Babaian R, Bast RC Jr, Dowell B, Esteva FJ, Haglund C, Harbeck N, Hayes DF, Holten-Andersen M, Klee GG, Lamerz R, Looijenga LH, Molina R, Nielsen HJ, Rittenhouse H, Semjonow A, Shih IeM, Sibley P, Sölétormos G, Stephan C, Sokoll L, Hoffman BR, Diamandis EP; National Academy of Clinical Biochemistry.
Clin Chem 2008 Dec;54(12):e11-79. doi: 10.1373/clinchem.2008.105601. PMID: 19042984
Locker GY, Hamilton S, Harris J, Jessup JM, Kemeny N, Macdonald JS, Somerfield MR, Hayes DF, Bast RC Jr; ASCO.
J Clin Oncol 2006 Nov 20;24(33):5313-27. Epub 2006 Oct 23 doi: 10.1200/JCO.2006.08.2644. PMID: 17060676

External

Technology Assessment on Genetic Testing or Molecular Pathology Testing of Cancers with Unknown Primary Site to Determine Origin

Suggested Reading

PubMed

Imperiale TF, Ransohoff DF, Itzkowitz SH
N Engl J Med 2014 Jul 10;371(2):187-8. doi: 10.1056/NEJMc1405215. PMID: 25006736

External

AMA/NCHPEG, 2012

Recent clinical studies

Etiology

Choi SJ, Kim HS, Ahn SJ, Jeong YM, Choi HY
Acta Radiol 2013 Jun;54(5):487-92. Epub 2013 Apr 30 doi: 10.1177/0284185113475923. PMID: 23436826
Lu QJ, Bian GX, Chen YY, Zhang M, Guo SM, Wen LQ
Acta Pharmacol Sin 2005 Oct;26(10):1259-64. doi: 10.1111/j.1745-7254.2005.00177.x. PMID: 16174444
Rajkumar D, Prakash A, Arya SV, Sinha AN
Indian J Gastroenterol 2001 Nov-Dec;20(6):241-2. PMID: 11817779
Hirano K, Minamoto T
Cancer Detect Prev 2000;24(4):343-55. PMID: 11059565
Consorti F, Lorenzotti A, Midiri G, Di Paola M
J Surg Oncol 2000 Feb;73(2):70-4. PMID: 10694641

Diagnosis

Soliman ML, Tiwari A, Zhao Q
World J Gastroenterol 2017 Feb 14;23(6):1106-1112. doi: 10.3748/wjg.v23.i6.1106. PMID: 28246485Free PMC Article
Srivastava A, Walter N, Atkinson P
J Surg Orthop Adv 2010 Summer;19(2):125-8. PMID: 20727310
Agmon-Levin N, Ziv-Sokolovsky N, Shull P, Sthoeger ZM
Am J Med Sci 2005 Jun;329(6):322-6. PMID: 15958876
Hirano K, Minamoto T
Cancer Detect Prev 2000;24(4):343-55. PMID: 11059565
Zvejnieks PA, Tellschow SR, Gudlaugsson EG, Markham N, Shroyer KR
Mol Cell Probes 1998 Aug;12(4):185-90. doi: 10.1006/mcpr.1998.0172. PMID: 9727193

Therapy

Srivastava A, Walter N, Atkinson P
J Surg Orthop Adv 2010 Summer;19(2):125-8. PMID: 20727310
Lu QJ, Bian GX, Chen YY, Zhang M, Guo SM, Wen LQ
Acta Pharmacol Sin 2005 Oct;26(10):1259-64. doi: 10.1111/j.1745-7254.2005.00177.x. PMID: 16174444
Zvejnieks PA, Tellschow SR, Gudlaugsson EG, Markham N, Shroyer KR
Mol Cell Probes 1998 Aug;12(4):185-90. doi: 10.1006/mcpr.1998.0172. PMID: 9727193
Bett NJ
Ann Gastroenterol Hepatol (Paris) 1984 Oct-Nov;20(5):229-31. PMID: 6099086
Bett NJ, Wells BW
Dis Colon Rectum 1980 Sep;23(6):408-10. PMID: 7418578

Prognosis

Fahim F, Al-Salamah SM, Alam MK, Al-Akeely MH
Saudi Med J 2006 Jun;27(6):874-7. PMID: 16758054
Rajkumar D, Prakash A, Arya SV, Sinha AN
Indian J Gastroenterol 2001 Nov-Dec;20(6):241-2. PMID: 11817779
Hirano K, Minamoto T
Cancer Detect Prev 2000;24(4):343-55. PMID: 11059565
Consorti F, Lorenzotti A, Midiri G, Di Paola M
J Surg Oncol 2000 Feb;73(2):70-4. PMID: 10694641
Bhatavdekar J, Patel D, Ghosh N, Vora H, Shah N, Karelia N, Balar D, Chikhlikar P, Dave R
J Surg Oncol 1994 Apr;55(4):246-9. PMID: 8159006

Clinical prediction guides

Choi SJ, Kim HS, Ahn SJ, Jeong YM, Choi HY
Acta Radiol 2013 Jun;54(5):487-92. Epub 2013 Apr 30 doi: 10.1177/0284185113475923. PMID: 23436826
Lu QJ, Bian GX, Chen YY, Zhang M, Guo SM, Wen LQ
Acta Pharmacol Sin 2005 Oct;26(10):1259-64. doi: 10.1111/j.1745-7254.2005.00177.x. PMID: 16174444
Hirano K, Minamoto T
Cancer Detect Prev 2000;24(4):343-55. PMID: 11059565
Consorti F, Lorenzotti A, Midiri G, Di Paola M
J Surg Oncol 2000 Feb;73(2):70-4. PMID: 10694641
Bhatavdekar J, Patel D, Ghosh N, Vora H, Shah N, Karelia N, Balar D, Chikhlikar P, Dave R
J Surg Oncol 1994 Apr;55(4):246-9. PMID: 8159006

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