UI - 11302952
AU - Playford RJ
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.
UI - 11866134
AU - Solomon CH; Pho LN; Burt RW
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
UI - 11900873
AU - Lynch HT; Lynch JF
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. firstname.lastname@example.org
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.
UI - 11933206
AU - Kohoutova M; Stekrova J; Jirasek V; Kapras J
APC germline mutations identified in Czech patients with familial
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,
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
UI - 12192027
AU - Levy R
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.