Source:http://linkedlifedata.com/resource/pubmed/id/11802209
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2002-1-21
|
| pubmed:abstractText |
The main focus of this German-wide multi-center study was to establish a BRCA1/2 mutation profile and to determine family types with high frequencies of mutations in these genes. In a comprehensive study, the entire coding sequences of the breast cancer genes BRCA1 and BRCA2 were analyzed in 989 unrelated patients from German breast/ovarian cancer families. A total of 77 BRCA1 and 63 BRCA2 distinct deleterious mutations were found in 302 patients. More than (1/3) of these mutations are novel and might be specific for the German population. Eighteen common mutations were found in 68% of cases in BRCA1 and 13 recurrent mutations in 44% of cases in BRCA2, facilitating prescreening approaches. Haplotype analysis indicate that 14 out of 20 recurrent mutations are likely originating from a common founder. An additional 50 different rare sequence variants with unknown relevance for tumorigenesis were found in 72 families. Correlation of BRCA1/BRCA2 detection rates with family history identified families with both breast and ovarian cancer to be at highest risk for BRCA1/BRCA2 mutations (43% and 10%, respectively), followed by families with at least 2 premenopausal cases of breast cancer (24% BRCA1 and 13% BRCA2 mutations). These data provide strong evidence for further predisposing genes in the German population. In breast cancer families with 2 or 3 affected females but only a single or no premenopausal case, mutations were detected with low frequencies (about 10% or less for both genes). The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Feb
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| pubmed:issn |
0020-7136
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| pubmed:author | |
| pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
|
| pubmed:day |
1
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| pubmed:volume |
97
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
472-80
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:11802209-Adult,
pubmed-meshheading:11802209-Age of Onset,
pubmed-meshheading:11802209-Alleles,
pubmed-meshheading:11802209-Breast Neoplasms,
pubmed-meshheading:11802209-DNA, Neoplasm,
pubmed-meshheading:11802209-DNA Mutational Analysis,
pubmed-meshheading:11802209-Exons,
pubmed-meshheading:11802209-Female,
pubmed-meshheading:11802209-Founder Effect,
pubmed-meshheading:11802209-Frameshift Mutation,
pubmed-meshheading:11802209-Gene Frequency,
pubmed-meshheading:11802209-Genes, BRCA1,
pubmed-meshheading:11802209-Genes, BRCA2,
pubmed-meshheading:11802209-Genetic Predisposition to Disease,
pubmed-meshheading:11802209-Genetic Testing,
pubmed-meshheading:11802209-Germany,
pubmed-meshheading:11802209-Haplotypes,
pubmed-meshheading:11802209-Humans,
pubmed-meshheading:11802209-Male,
pubmed-meshheading:11802209-Middle Aged,
pubmed-meshheading:11802209-Mutation,
pubmed-meshheading:11802209-Mutation, Missense,
pubmed-meshheading:11802209-Neoplasms, Multiple Primary,
pubmed-meshheading:11802209-Neoplastic Syndromes, Hereditary,
pubmed-meshheading:11802209-Ovarian Neoplasms,
pubmed-meshheading:11802209-Prevalence,
pubmed-meshheading:11802209-RNA Splicing,
pubmed-meshheading:11802209-Risk Factors,
pubmed-meshheading:11802209-Sequence Deletion
|
| pubmed:year |
2002
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| pubmed:articleTitle |
Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.
|
| pubmed:affiliation |
Department of Medical Genetics, Ludwig-Maximilians University, Munich, Germany. alfons@pedgen.med.uni-muenchen.de
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| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Multicenter Study
|