TY  - THES
A1  - Weis, Claudia
T1  - Berechnungen der Lebenserkrankungswahrscheinlichkeit bei familiärem Brustkrebs - Vergleich von Methoden
T1  - Lifetime risk calculation for familial breast cancer - comparison of methods
N2  - Diese Arbeit vergleicht verschiedene Methoden zur Berechung der Lebenserkrankungswahrscheinlichkeit bei familiärem Brustkrebs. Dabei handelt es sich um Tabellen von Chang-Claude und die Computerprogramme Cyrillic Version 2.1 sowie IBIS Breast Cancer Risk Evaluation Tool. Es stellte sich heraus, dass sich die Ergebnisse der Modelle nicht wesentlich voneinander unterscheiden.
N2  - This paper compares different models of lifetime risk calculation for familial breast cancer. These were tables of Chang-Claude and the computer programmes Cyrillic Version 2.1 and IBIS Breast Cancer Risk Evaluation Tool. It is shown that there is no distinct difference between the results of calculated risks.
KW  - Brustkrebs
KW  - Risiko
KW  - Berechnung
KW  - breast cancer
KW  - risk
KW  - calculation
Y1  - 2010
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-74027
ER  - 
TY  - JOUR
A1  - Kohlhase, Sandra
A1  - Bogdanova, Natalia V.
A1  - Schürmann, Peter
A1  - Bermisheva, Marina
A1  - Khusnutdinova, Elza
A1  - Antonenkova, Natalia
A1  - Park-Simon, Tjoung-Won
A1  - Hillemanns, Peter
A1  - Meyer, Andreas
A1  - Christiansen, Hans
A1  - Schindler, Detlev
A1  - Dörk, Thilo
T1  - Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer
JF  - PLOS ONE
N2  - 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.
KW  - ERCC1-XPF
KW  - susceptibility loci
KW  - ERCC4
KW  - genome-wide association
KW  - fanconi-anemia
KW  - ATM gene
KW  - endonuclease
KW  - risk
KW  - requency
KW  - variants
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-117582
VL  - 9
IS  - 1
ER  -