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NCI CANCERLIT^® Search: Familial Adenomatous Polyposis - August 2002

Imprima English

National Cancer Institute^®
Ultima Vez Modificado: 1 de agosto del 2002

Landscaper seeks remunerative position.
Current status of genetic testing for colorectal cancer susceptibility.
Hereditary cancer: family history, diagnosis, molecular genetics, ecogenetics, and management strategies.
APC germline mutations identified in Czech patients with familial adenomatous polyposis.
Sulindac in familial adenomatous polyposis.

Table of Contents

1
UI - 11302952
AU - Playford RJ
TI - Landscaper seeks remunerative position.
SO - Gut 2001 May;48(5):594-5
AD - Department of Gastroenterology, Imperial College School of Medicine Hammersmith Hospital, Ducane Road London W12 ONN, UK. r.playford@ic.ac.uk

2
UI - 11866134
AU - Solomon CH; Pho LN; Burt RW
TI - Current status of genetic testing for colorectal cancer susceptibility.
SO - Oncology (Huntingt) 2002 Feb;16(2):161-71; discussion 176, 179-80
AD - Division of Gastroenterology, Huntsman Cancer Institute at the University of Utah, Salt Lake City 84112, USA.
Over 130,000 new cases of colon cancer are diagnosed annually. Approximately 20% to 30% of these are attributable to familial risk, and 3% to 5% belong to a hereditary colorectal cancer predisposition syndrome. Recent discoveries of the genes responsiblefor the inherited colorectal cancer conditions have expanded the field of commercial genetic testing. Health-care providers who use genetic testing in clinical practice are aware of the benefits that genetic testing can confer on screening, prevention, and treatment options for patients with a personal and/or family history of colon cancer. When genetic test results are correctly interpreted, the information they provide can offer medical guidance for the entire family. The psychological impact, however, of presymptomatic testing can be multifaceted. There are unprecedented benefits but also complex issues surrounding genetic testing. For these reasons, the practice of offering genetic testing to individuals at high risk for colon cancer is heavily fortified with guidelines and recommendations. This review covers the current availability and limitations of genetic testing for inherited colorectal cancer syndromes and focuses on guidelines that address the psychological, ethical, and social concerns stemming from genetic testing.

3
UI - 11900873
AU - Lynch HT; Lynch JF
TI - Hereditary cancer: family history, diagnosis, molecular genetics, ecogenetics, and management strategies.
SO - Biochimie 2002 Jan;84(1):3-17
AD - Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, Nebraska 68131, USA. htlynch@creighton.edu
The translation of knowledge about hereditary breast cancer and its improved control, as well as prevention through prophylactic surgery, has been significantly accelerated through the veritable explosive discoveries in molecular genetics inclusive of BRCA1 and BRCA2 germline mutations. Needed however, among the physician community, medical geneticists, and genetic counselors, is a raised level of knowledge about hereditary breast cancer syndromes. Particular attention needs to be given to their extant genotypic and phenotypic heterogeneity, their natural history, and foremost, the requirement of a sufficiently detailed family history, with knowledge as to how to interpret its significance so that hereditary cancer syndrome can be diagnosed, should it, in fact, exist in the particular family. Collectively, surveillance and management programs can then be developed for the patient and his or her high-risk relatives. We believe very firmly that this knowledge needs to be extended to the individual patient(s), first- and second-degree relatives so that they can benefit from this knowledge.

4
UI - 11933206
AU - Kohoutova M; Stekrova J; Jirasek V; Kapras J
TI - APC germline mutations identified in Czech patients with familial adenomatous polyposis.
SO - Hum Mutat 2002 Apr;19(4):460-1
AD - Institute of Biology and Medical Genetics, 1st Faculty of Medicine, Charles University, General Teaching Hospital, Prague, Czech Republic, mkoho@lf1.cuni.cz.
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelated FAP families and 9 suspected FAP families using DGGE analysis and direct DNA sequencing. We found 25 germline APC mutations and identified 11 which were not previously reported. Of the identified mutations, 10 were 1 to 5 bp deletions, four were 1 bp insertions and six were nonsense, all leading to the formation of premature stop codon. In addition, we detected two mutations in the splice-donor region of APC intron 11, one missense and two samesense mutations. Phenotypes of patients with known and novel types of mutations are presented and discussed. Copyright 2002 Wiley-Liss, Inc.

5
UI - 12192027
AU - Levy R
TI - Sulindac in familial adenomatous polyposis.
SO - N Engl J Med 2002 Aug 22;347(8):615

The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.

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