Abstract
Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal-dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings.
| Original language | English |
|---|---|
| Pages (from-to) | 353-364 |
| Number of pages | 12 |
| Journal | American Journal of Medical Genetics |
| Volume | 62 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 24 1996 |
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Keywords
- colorectal cancer
- hereditary tumors
- mismatch repair
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
Cite this
Hereditary nonpolyposis colorectal cancer : Review of clinical, molecular genetics, and counseling aspects. / Bellacosa, Alfonso; Genuardi, Maurizio; Anti, Marcello; Viel, Alessandra; Ponz De Leon, Maurizio.
In: American Journal of Medical Genetics, Vol. 62, No. 4, 24.04.1996, p. 353-364.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary nonpolyposis colorectal cancer
T2 - Review of clinical, molecular genetics, and counseling aspects
AU - Bellacosa, Alfonso
AU - Genuardi, Maurizio
AU - Anti, Marcello
AU - Viel, Alessandra
AU - Ponz De Leon, Maurizio
PY - 1996/4/24
Y1 - 1996/4/24
N2 - Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal-dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings.
AB - Lynch syndrome, or hereditary nonpolyposis colon cancer (HNPCC), is an autosomal-dominant disease accounting for approximately 1-5% of all colorectal cancer cases. Due to the lack of pathognomonic morphological or biomolecular markers, HNPCC has traditionally posed unique problems to clinicians and geneticists alike, both in terms of diagnosis and clinical management. Recently, novel insight into the pathogenesis of this syndrome has been provided by the identification of its molecular basis. In HNPCC families, germline mutations in any of four genes encoding proteins of a specialized DNA repair system, the mismatch repair, predispose to cancer development. Mutations in mismatch repair genes lead to an overall increase of the mutation rate and are associated with a phenotype of length instability of microsatellite loci. The present report summarizes the clinicopathological aspects of HNPCC and reviews the most recent molecular and biochemical findings.
KW - colorectal cancer
KW - hereditary tumors
KW - mismatch repair
UR - http://www.scopus.com/inward/record.url?scp=0029985255&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0029985255&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S
DO - 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S
M3 - Article
C2 - 8723065
AN - SCOPUS:0029985255
VL - 62
SP - 353
EP - 364
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -