|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:dateCreated |
2010-12-16
|
|
pubmed:abstractText |
The DNA double strand break repair gene TOPBP1 has been suggested as a breast cancer susceptibility gene and a missense variant Arg309Cys was observed at elevated frequency in familial breast cancer cases compared to healthy controls from Finland. We found the Arg309Cys allele at a 13% carrier frequency in a hospital-based series of 1064 German breast cancer patients and at a 14% carrier frequency in 1014 population controls (OR 0.89, 95%CI 0.69-1.15; p = 0.4). Arg309Cys carriers were not enriched among patients with a family history of breast cancer (OR = 0.87, 95%CI 0.53-1.43, p = 0.6) and were slightly underrepresented in patients with bilateral disease (OR = 0.49, 95%CI = 0.24-0.99; p = 0.047). In the latter group, the mean age at diagnosis was 62 years in carriers and 54 years in non-carriers (p = 0.004). We conclude that there is no evidence for the TOPBP1*Arg309Cys variant to confer an increased risk for breast cancer in the German population.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
1477-5751
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
9
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
9
|
|
pubmed:meshHeading |
pubmed-meshheading:21108795-Aged,
pubmed-meshheading:21108795-Amino Acid Substitution,
pubmed-meshheading:21108795-Base Sequence,
pubmed-meshheading:21108795-Breast Neoplasms,
pubmed-meshheading:21108795-Carrier Proteins,
pubmed-meshheading:21108795-Case-Control Studies,
pubmed-meshheading:21108795-Codon,
pubmed-meshheading:21108795-DNA Mutational Analysis,
pubmed-meshheading:21108795-DNA-Binding Proteins,
pubmed-meshheading:21108795-Female,
pubmed-meshheading:21108795-Genetic Predisposition to Disease,
pubmed-meshheading:21108795-Genetic Testing,
pubmed-meshheading:21108795-Germany,
pubmed-meshheading:21108795-Hospitals,
pubmed-meshheading:21108795-Humans,
pubmed-meshheading:21108795-Middle Aged,
pubmed-meshheading:21108795-Molecular Sequence Data,
pubmed-meshheading:21108795-Mutation, Missense,
pubmed-meshheading:21108795-Nuclear Proteins
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study.
|
|
pubmed:affiliation |
Clinics of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-Str. 1, D-30625 Hannover, Germany.
|
|
pubmed:publicationType |
Journal Article
|
