2018
DOI: 10.1155/2018/3979135
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Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries

Abstract: Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early on… Show more

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Cited by 24 publications
(26 citation statements)
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“…Individuals from Amsterdam-positive families without any signs of dMMR were characterised as a distinct risk group, the so-called "familial colorectal cancer type X" (FCCTX or FCCX) [18,20]. The different clinical aspects and molecular features of LS, LLS, and FCCX are summarized elsewhere [21].…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…Individuals from Amsterdam-positive families without any signs of dMMR were characterised as a distinct risk group, the so-called "familial colorectal cancer type X" (FCCTX or FCCX) [18,20]. The different clinical aspects and molecular features of LS, LLS, and FCCX are summarized elsewhere [21].…”
Section: Introductionmentioning
confidence: 99%
“…A comprehensive characterisation of cancer risks is an important prerequisite for developing appropriate cancer surveillance and prevention programmes. To date, many studies have characterised cancer risks in LS, also using prospective data, but fewer studies have characterised cancer risks in LLS and FCCX [7][8][9][10][11][12][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33]. The aim of the present analysis was therefore to estimate and compare the risk for different types of cancers in individuals with LS, LLS, and FCCX based on data from a prospective surveillance study of the German Consortium for Familial Intestinal Cancer.…”
Section: Introductionmentioning
confidence: 99%
“…HNPCC is the most common form of hereditary CRC susceptibility syndrome, also known as Lynch syndrome 17, 18. HNPCC is inherited in an autosomal dominant manner with high penetrance 19.…”
Section: Susceptibility Genes and Mechanism Of Hnpccmentioning
confidence: 99%
“…The majority of LS cases (80–90%) are attributable to a heterozygous germline mutation in one of the four MMR genes, MLH1 , MSH2 , PMS2 or MSH6 . Germline defects in MLH1 and MSH2 collectively comprise 80% of all LS mutations whereas PMS2 and MSH6 defects account for 18% of mutations . To date, germline mutations in MSH3 have not been identified in individuals with LS 17 and the significance of the alternative MLH1 partner proteins PMS1 or MLH3 remains uncertain …”
Section: The Molecular Genetics Of Lsmentioning
confidence: 99%
“…This is due to the compensatory upregulation of an alternative partner protein to promote stability of the MMR complex in the absence of the primary binding partner . Secondly, germline mutations in EPCAM have been implicated as a novel cause in up to 3% of LS cases . In particular, exon deletions in the 3′ end of EPCAM , upstream of MSH2 , result in epigenetic silencing of MSH2 .…”
Section: The Molecular Genetics Of Lsmentioning
confidence: 99%