Linked Life Data

14726700

Source:http://linkedlifedata.com/resource/pubmed/id/14726700

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-8-9
pubmed:abstractText
Patients with Fanconi anemia (FA) display a wide variety of defects including bone marrow failure and a high risk of developing cancer. Multiple Fanconi genes exist whose proteins form a complex that along with BRCA1 is important for the translocalization of FANCD2 to nuclear foci. With BRCA2 and RAD51, this complex is thought to have a role in the repair of DNA double strand breaks. The genetic basis of another form of Fanconi anemia--FANCD1, was recently identified as the result of biallelic inactivating mutations of the BRCA2 gene. Since carriers of germline BRCA2 gene mutations have an increased risk of developing pancreatic cancer, the FA pathway has been investigated as a tumor suppressor pathway in pancreatic cancer. Recently van der Heijden et al. identified FANCC and FANCG gene mutations in patients with young-onset pancreatic cancer. Here, we determined the role of germline FA gene mutations in kindred in which several family members had pancreatic cancer. Sequence analysis of 38 individuals with familial pancreatic cancer enrolled in the National Familial Pancreatic Tumor Registry (NFPTR) revealed previously identified polymorphisms within two exons and one intron of FANCC, and in three introns of FANCG. In addition, an unaffected relative from one family contained an exonic polymorphism within the FANCC gene. These and published data suggest the possibility that although germline and somatic mutations in FANCC and FANCG may contribute to the occurrence of pancreatic cancers, the pancreatic cancers that arise do so in an apparent sporadic fashion rather than with a phenotype of familial pancreatic cancer. FANCC and FANCG mutations may have low penetrance for the pancreatic cancer phenotype.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1538-4047
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
167-9
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
The genetics of FANCC and FANCG in familial pancreatic cancer.
pubmed:affiliation
Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.