title: New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients.
abstract: Breast cancer is the most common cause of malignancy and mortality in women worldwide. This study aimed at localising homologous recombination repair (HR) genes and their chromosomal loci and correlating their nucleotide variants with susceptibility to breast cancer. In this study, authors analysed the association between single nucleotide polymorphisms (SNPs) in homologous recombination repair genes and the incidence of breast cancer in the population of Polish women. Blood samples from 94 breast cancer patients were analysed as test group. Individuals were recruited into the study at the Department of Oncological Surgery and Breast Diseases of the Institute of the Polish Mother's Memorial Hospital in Lodz, Poland. Healthy controls (n = 500) were obtained from the Biobank Laboratory, Department of Molecular Biophysics, University of Lodz. Then, DNA of breast cancer patients was compared with one of the disease-free women. The test was supported by microarray analysis. Statistically significant correlations were identified between breast cancer and 3 not described previously SNPs of homologous recombination repair genes BRCA1 and BRCA2: rs59004709, rs4986852 and rs1799950. Further studies on larger groups are warranted to support the hypothesis of correlation between the abovementioned genetic variants and breast cancer risk.
authors.affiliation: Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital - Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland. hanna-romanowicz@wp.pl.
authors.forename: Hanna
authors.initials: H
authors.lastname: Romanowicz
authors.affiliation: Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pilarskiego 14/16, 90-237, Lodz, Poland.
authors.forename: Dominik
authors.initials: D
authors.lastname: Strapagiel
authors.affiliation: Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pilarskiego 14/16, 90-237, Lodz, Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Słomka
authors.affiliation: Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pilarskiego 14/16, 90-237, Lodz, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Sobalska-Kwapis
authors.affiliation: Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-236, Lodz, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Kępka
authors.affiliation: Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Pomorska 141/143, 90-236, Lodz, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Siewierska-Górska
authors.affiliation: Department of Oncological Surgery and Breast Diseases, Polish Mother's Memorial Hospital - Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Zadrożny
authors.affiliation: Department of Surgical, Endoscopic and Oncologic Gynaecology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Bieńkiewicz
authors.affiliation: Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital - Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Smolarz
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D046228:Microarray Analysis; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: Breast cancer; DNA repair; Homologous recombination; Microarray analysis; Polymorphisms