HER2 Codon 655 (Ile/Val) Polymorphism and Breast Cancer in Austrian Women.
BACKGROUND
The overexpression of the human epidermal growth factor receptor 2 (HER2) in breast cancer (BC) is associated with impaired prognosis. Data concerning the HER2 codon 655 polymorphism (Ile/Val) and BC risk are conflicting.


METHODS
We studied the HER2 codon 655 (rs1136201) polymorphism in 80 Austrian patients with BC and 100 healthy volunteers by pyrosequencing and polymerase chain reaction. Associations between codon 655 allelic variants and clinicopathological variables (e.g. age, stage of disease, tumor type, grading, and receptor status) were studied with 2×2 tables.


RESULTS
The genotypic distributions in patients with BC (AA: 63.75%, AG: 32.5%, GG: 3.75%) and controls (AA: 63%, AG: 34%, GG: 3.7%) were virtually identical (odds ratio=1.03, 95% confidence interval=0.56-1.90). A non-significant link between carrying at least one G allele and more aggressive tumor type (estrogen receptor-negative p=0.08, G3 tumor p=0.19) was observed.


CONCLUSIONS
Genotypic variation within the codon 655 of HER2 does not alter the BC risk in Caucasian Austrian women. The association between the G allele and more aggressive tumor types requires further investigation.
Department of Gynecology and Obstetrics, St. Josefskrankenhaus, Teaching Hospital of the University of Freiburg, Freiburg, Germany Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria Rafal.Watrowski@gmx.at.
Rafał
R
Watrowski
Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
Dan Cacsire
DC
Castillo-Tong
Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
Andrea
A
Wolf
Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
Eva
E
Schuster
Department of Blood Group Serology and Transfusion Medicine, Medical University of Vienna, Vienna, Austria.
Michael B
MB
Fischer
Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
Paul
P
Speiser
Department of Obstetrics and Gynecology, Molecular Oncology Group, Medical University of Vienna, Vienna, Austria.
Robert
R
Zeillinger
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001317:Austria; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018275:Carcinoma, Lobular / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D016022:Case-Control Studies; D003062:Codon; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007124:Immunoenzyme Techniques; D008875:Middle Aged; D060787:Neoplasm Grading; D009361:Neoplasm Invasiveness; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics*; D011960:Receptors, Estrogen / Q000378:metabolism; D011980:Receptors, Progesterone / Q000378:metabolism; D012307:Risk Factors
D014408:Biomarkers, Tumor; D003062:Codon; D018719:Erb-b2 Receptor Tyrosine Kinases; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; C508053:ERBB2 protein, human
ERBB2; HER2; Ile655Val; breast cancer; codon 655; polymorphism