@article{KohlhaseBogdanovaSchuermannetal.2014,
  author    = {Kohlhase, Sandra and Bogdanova, Natalia V. and Sch{\"u}rmann, Peter and Bermisheva, Marina and Khusnutdinova, Elza and Antonenkova, Natalia and Park-Simon, Tjoung-Won and Hillemanns, Peter and Meyer, Andreas and Christiansen, Hans and Schindler, Detlev and D{\"o}rk, Thilo},
  title     = {Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer},
  series = {PLOS ONE},
  volume    = {9},
  journal   = {PLOS ONE},
  number    = {1},
  doi       = {10.1371/journal.pone.0085334},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-117582},
  pages     = {e85334},
  year      = {2014},
  abstract  = {The ERCC4 protein forms a structure-specific endonuclease involved in the DNA damage response. Different cancer syndromes such as a subtype of Xeroderma pigmentosum, XPF, and recently a subtype of Fanconi Anemia, FA-Q, have been attributed to biallelic ERCC4 gene mutations. To investigate whether monoallelic ERCC4 gene defects play some role in the inherited component of breast cancer susceptibility, we sequenced the whole ERCC4 coding region and flanking untranslated portions in a series of 101 Byelorussian and German breast cancer patients selected for familial disease (set 1, n = 63) or for the presence of the rs1800067 risk haplotype (set 2, n = 38). This study confirmed six known and one novel exonic variants, including four missense substitutions but no truncating mutation. Missense substitution p.R415Q (rs1800067), a previously postulated breast cancer susceptibility allele, was subsequently screened for in a total of 3,698 breast cancer cases and 2,868 controls from Germany, Belarus or Russia. The Gln415 allele appeared protective against breast cancer in the German series, with the strongest effect for ductal histology (OR 0.67; 95\%CI 0.49; 0.92; p = 0.003), but this association was not confirmed in the other two series, with the combined analysis yielding an overall Mantel-Haenszel OR of 0.94 (95\% CI 0.81; 1.08). There was no significant effect of p.R415Q on breast cancer survival in the German patient series. The other three detected ERCC4 missense mutations included two known rare variants as well as a novel substitution, p.E17V, that we identified on a p.R415Q haplotype background. The p.E17V mutation is predicted to be probably damaging but was present in just one heterozygous patient. We conclude that the contribution of ERCC4/FANCQ coding mutations to hereditary breast cancer in Central and Eastern Europe is likely to be small.},
  language  = {en}
}
@article{GrabenhenrichReichFischeretal.2014,
  author    = {Grabenhenrich, Linus B. and Reich, Andreas and Fischer, Felix and Zepp, Fred and Forster, Johannes and Schuster, Antje and Bauer, Carl-Peter and Bergmann, Renate L. and Bergmann, Karl E. and Wahn, Ulrich and Keil, Thomas and Lau, Susanne},
  title     = {The Novel 10-Item Asthma Prediction Tool: External Validation in the German MAS Birth Cohort},
  series = {PLOS ONE},
  volume    = {9},
  journal   = {PLOS ONE},
  number    = {12},
  issn      = {1932-6203},
  doi       = {10.1371/journal.pone.0115852},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-114202},
  pages     = {e115852},
  year      = {2014},
  abstract  = {Background: A novel non-invasive asthma prediction tool from the Leicester Cohort, UK, forecasts asthma at age 8 years based on 10 predictors assessed in early childhood, including current respiratory symptoms, eczema, and parental history of asthma. Objective: We aimed to externally validate the proposed asthma prediction method in a German birth cohort. Methods: The MAS-90 study (Multicentre Allergy Study) recorded details on allergic diseases prospectively in about yearly follow-up assessments up to age 20 years in a cohort of 1,314 children born 1990. We replicated the scoring method from the Leicester cohort and assessed prediction, performance and discrimination. The primary outcome was defined as the combination of parent-reported wheeze and asthma drugs (both in last 12 months) at age 8. Sensitivity analyses assessed model performance for outcomes related to asthma up to age 20 years. Results: For 140 children parents reported current wheeze or cough at age 3 years. Score distribution and frequencies of later asthma resembled the Leicester cohort: 9\% vs. 16\% (MAS-90 vs. Leicester) of children at low risk at 3 years had asthma at 8 years, at medium risk 45\% vs. 48\%. Performance of the asthma prediction tool in the MAS-90 cohort was similar (Brier score 0.22 vs. 0.23) and discrimination slightly better than in the original cohort (area under the curve, AUC 0.83 vs. 0.78). Prediction and discrimination were robust against changes of inclusion criteria, scoring and outcome definitions. The secondary outcome 'physicians' diagnosed asthma at 20 years' showed the highest discrimination (AUC 0.89). Conclusion: The novel asthma prediction tool from the Leicester cohort, UK, performed well in another population, a German birth cohort, supporting its use and further development as a simple aid to predict asthma risk in clinical settings.},
  language  = {en}
}