rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
2
|
pubmed:dateCreated |
2000-8-8
|
pubmed:abstractText |
The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n= 53) and healthy controls (n= 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry.
|
pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-10439961,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-3431470,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-6234857,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-7798298,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8318422,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8533757,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8673092,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8898735,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8946903,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-8990217,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9042909,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9288102,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9407954,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9536083,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9731522,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10901363-9731533
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
0007-0920
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
83
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
153-5
|
pubmed:dateRevised |
2009-11-18
|
pubmed:meshHeading |
pubmed-meshheading:10901363-Adenomatous Polyposis Coli Protein,
pubmed-meshheading:10901363-Adult,
pubmed-meshheading:10901363-Aged,
pubmed-meshheading:10901363-Aged, 80 and over,
pubmed-meshheading:10901363-BRCA1 Protein,
pubmed-meshheading:10901363-BRCA2 Protein,
pubmed-meshheading:10901363-Breast Neoplasms,
pubmed-meshheading:10901363-Cytoskeletal Proteins,
pubmed-meshheading:10901363-Female,
pubmed-meshheading:10901363-Gene Frequency,
pubmed-meshheading:10901363-Genetic Markers,
pubmed-meshheading:10901363-Genetic Predisposition to Disease,
pubmed-meshheading:10901363-Humans,
pubmed-meshheading:10901363-Middle Aged,
pubmed-meshheading:10901363-Mutation,
pubmed-meshheading:10901363-Neoplasm Proteins,
pubmed-meshheading:10901363-Ovarian Neoplasms,
pubmed-meshheading:10901363-Transcription Factors
|
pubmed:year |
2000
|
pubmed:articleTitle |
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers.
|
pubmed:affiliation |
Department of Genetics, Rambam Medical Center, Bruce Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|