Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1996-12-31
pubmed:abstractText
Genetic consultations allow to identify families in which an hereditary predisposition to cancer is transmitted. In most cases the gene involved can be studied leading to identification of families members carrying or not the mutation conferring the cancer risk. In this case, cancer risk is more accurately explained and measures, adjusted to the risk, were proposed for early screening of the disease. Capacities to characterize an inherited mutation of the susceptibility gene vary according to our knowledge of the gene, its structure, its function, the kind of mutation(s) and also, the available techniques. The purpose of this paper is to describe the most frequently used techniques for direct or indirect molecular diagnosis of cancer predisposition and to specify, for each of them, the situations where its use seem the fittest. The example of breast cancer hereditary predisposition, where multiple susceptibility genes were identified and other are still unknown, illustrates the various degree of diagnosis that can be proposed and the strategy techniques used according to the gene.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0007-4551
pubmed:author
pubmed:issnType
Print
pubmed:volume
83
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
764-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
[Hereditary predispositions to cancer: the genetic diagnosis in practice].
pubmed:affiliation
Consultation d'oncogénétique et laboratoire d'oncologie moléculaire (Inserm CRI 9402), centre J-Perrin, Clermont-Ferrand, France.
pubmed:publicationType
Journal Article, English Abstract, Review, Research Support, Non-U.S. Gov't