Linked Life Data

10637951

Source:http://linkedlifedata.com/resource/pubmed/id/10637951

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
50
pubmed:dateCreated
2000-1-28
pubmed:abstractText
Hereditary non-polyposis colorectal cancer (HNPCC) is a relatively common autosomal dominantly inherited predisposition leading to a familial occurrence of cancer of the colon, rectum, endometrium and some other organs. Cancer mortality can be significantly reduced by appropriate intervention. The diagnosis of HNPCC is suspected on the basis of early onset and multiple foci of colorectal cancer (CRC), in many cases affecting the proximal part of the colon, and of endometrial cancer. It may be confirmed by molecular genetic analysis of the mismatch repair genes, especially hMLH1 and hMSH2. In spite of considerable progress in the understanding of hereditary colon cancer, many questions which are of basic importance for the identification and appropriate genetic counselling of gene carriers remain to be answered. HNPCC defined on clinical and genealogical grounds is by no means identical with the presence of mutated mismatch-repair genes. This impedes the identification of persons/families at increased cancer risk. Mutations of other, mainly as yet unidentified genes may lead to a similar phenotype. Not only heterogeneity of the predispositions underlying CRC, but also penetrance and expressivity of the identifiable mutations of the MMR-genes, have been explored only superficially. The process of carcinogenesis in the colon can follow different routes depending on the genetic background of the patients. Its investigation will open up new possibilities of cancer prevention. In addition, genetic counselling must be developed into a more "evidence"-based medical undertaking. These gaps in the understanding of hereditary CRC and in the care of persons at risk can only be overcome through structured collaboration between family doctors, medical specialists such as gastroenterologists, oncologists and surgeons, medical geneticists and basic researchers.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0036-7672
pubmed:author
pubmed:issnType
Print
pubmed:day
18
pubmed:volume
129
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1978-85
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
[Identification and genetic counseling of people with HNPCC (hereditary nonpolyposis colorectal cancer): old and new research goals].
pubmed:affiliation
Abteilung Medizinische Genetik, Universitäts-Kinderspital beider Basel. Hansjakob.Mueller@unibas.ch
pubmed:publicationType
Journal Article, English Abstract, Review, Research Support, Non-U.S. Gov't