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Lynch syndrome 1(FCC1; HNPCC1; LYNCH1)

MedGen UID:
423615
Concept ID:
C2936783
Disease or Syndrome
Synonyms: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; Colorectal cancer, hereditary, nonpolyposis, type 1; Hereditary non-polyposis colorectal cancer, type 1; Lynch syndrome I; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Lynch Syndrome
 
Genes (locations): MSH2 (2p21-16.3); PMS1 (2q32.2)
 
Monarch Initiative: MONDO:0007356
OMIM®: 120435

Definition

Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]

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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLynch syndrome 1

Professional guidelines

PubMed

Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M
Gastroenterology 2023 Apr;164(4):579-592.e8. Epub 2022 Dec 29 doi: 10.1053/j.gastro.2022.12.017. PMID: 36586540
Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE
Obstet Gynecol 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc. PMID: 19701031

Recent clinical studies

Etiology

Pearlman R, Markow M, Knight D, Chen W, Arnold CA, Pritchard CC, Hampel H, Frankel WL
Mod Pathol 2018 Dec;31(12):1891-1900. Epub 2018 Jul 2 doi: 10.1038/s41379-018-0058-y. PMID: 29967423Free PMC Article
Kerr L, Rewhorn MJ, Longmuir M, Fraser S, Walsh S, Andrew N, Leung HY
BMC Cancer 2016 Jul 25;16:529. doi: 10.1186/s12885-016-2573-x. PMID: 27456091Free PMC Article
Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE
Obstet Gynecol 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc. PMID: 19701031
Kwon JS, Sun CC, Peterson SK, White KG, Daniels MS, Boyd-Rogers SG, Lu KH
Cancer 2008 Jul 15;113(2):326-35. doi: 10.1002/cncr.23554. PMID: 18506736
Rex DK
Am J Gastroenterol 1995 Mar;90(3):353-65. PMID: 7872270

Diagnosis

Pearlman R, Markow M, Knight D, Chen W, Arnold CA, Pritchard CC, Hampel H, Frankel WL
Mod Pathol 2018 Dec;31(12):1891-1900. Epub 2018 Jul 2 doi: 10.1038/s41379-018-0058-y. PMID: 29967423Free PMC Article
Kerr L, Rewhorn MJ, Longmuir M, Fraser S, Walsh S, Andrew N, Leung HY
BMC Cancer 2016 Jul 25;16:529. doi: 10.1186/s12885-016-2573-x. PMID: 27456091Free PMC Article
Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE
Obstet Gynecol 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc. PMID: 19701031
Kwon JS, Sun CC, Peterson SK, White KG, Daniels MS, Boyd-Rogers SG, Lu KH
Cancer 2008 Jul 15;113(2):326-35. doi: 10.1002/cncr.23554. PMID: 18506736
Rex DK
Am J Gastroenterol 1995 Mar;90(3):353-65. PMID: 7872270

Prognosis

Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE
Obstet Gynecol 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc. PMID: 19701031
Rex DK
Am J Gastroenterol 1995 Mar;90(3):353-65. PMID: 7872270

Clinical prediction guides

Resnick K, Straughn JM Jr, Backes F, Hampel H, Matthews KS, Cohn DE
Obstet Gynecol 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc. PMID: 19701031
Rex DK
Am J Gastroenterol 1995 Mar;90(3):353-65. PMID: 7872270

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