Tags

Type your tag names separated by a space and hit enter

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects.
Schweiz Med Wochenschr. 1997 Apr 19; 127(16):682-90.SM

Abstract

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are two syndromes of colorectal cancer predisposition, inherited in an autosomal dominant fashion. They account for about 1% and 5-7% of all colorectal cancer cases, respectively. FAP is caused by germline mutations of a tumour suppressor gene, the adenomatous polyposis coli (APC) gene, whereas HNPCC results from genetic alterations of the DNA mismatch repair genes. Clinical manifestations in FAP include colonic as well as extracolonic sites (duodenum, eye, dental, nervous or connective tissues). In FAP, prophylactic colectomy is required in all affected patients and regular endoscopic check-up of the upper gastrointestinal tract is necessary to detect malignant transformation of duodenal polyps; medical management of complex desmoid tumours is preferred rather than surgery. In HNPCC, there are extracolonic associated endometrial, gastric, small bowel or brain carcinomas. At present time, for HNPCC patients, only preventive measures such as regular colonoscopic or gynecologic examinations are recommended, since prophylactic colectomy or hysterectomy are not considered to be routine procedures.

Authors+Show Affiliations

Department of Surgery, Mount Sinai Hospital, Toronto, Canada. soravia@mshri.on.caNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

9140167

Citation

Soravia, C, et al. "Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC): a Review of Clinical, Genetic and Therapeutic Aspects." Schweizerische Medizinische Wochenschrift, vol. 127, no. 16, 1997, pp. 682-90.
Soravia C, Bapat B, Cohen Z. Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects. Schweiz Med Wochenschr. 1997;127(16):682-90.
Soravia, C., Bapat, B., & Cohen, Z. (1997). Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects. Schweizerische Medizinische Wochenschrift, 127(16), 682-90.
Soravia C, Bapat B, Cohen Z. Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC): a Review of Clinical, Genetic and Therapeutic Aspects. Schweiz Med Wochenschr. 1997 Apr 19;127(16):682-90. PubMed PMID: 9140167.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC): a review of clinical, genetic and therapeutic aspects. AU - Soravia,C, AU - Bapat,B, AU - Cohen,Z, PY - 1997/4/19/pubmed PY - 1997/4/19/medline PY - 1997/4/19/entrez SP - 682 EP - 90 JF - Schweizerische medizinische Wochenschrift JO - Schweiz Med Wochenschr VL - 127 IS - 16 N2 - Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) are two syndromes of colorectal cancer predisposition, inherited in an autosomal dominant fashion. They account for about 1% and 5-7% of all colorectal cancer cases, respectively. FAP is caused by germline mutations of a tumour suppressor gene, the adenomatous polyposis coli (APC) gene, whereas HNPCC results from genetic alterations of the DNA mismatch repair genes. Clinical manifestations in FAP include colonic as well as extracolonic sites (duodenum, eye, dental, nervous or connective tissues). In FAP, prophylactic colectomy is required in all affected patients and regular endoscopic check-up of the upper gastrointestinal tract is necessary to detect malignant transformation of duodenal polyps; medical management of complex desmoid tumours is preferred rather than surgery. In HNPCC, there are extracolonic associated endometrial, gastric, small bowel or brain carcinomas. At present time, for HNPCC patients, only preventive measures such as regular colonoscopic or gynecologic examinations are recommended, since prophylactic colectomy or hysterectomy are not considered to be routine procedures. SN - 0036-7672 UR - https://www.unboundmedicine.com/medline/citation/9140167/Familial_adenomatous_polyposis__FAP__and_hereditary_nonpolyposis_colorectal_cancer__HNPCC_:_a_review_of_clinical_genetic_and_therapeutic_aspects_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -