e-ISSN 2329-0072




The incidence of mutations of BRCA1, NOD2 and CHEK2 genes at the Lodz Macroregion

Monika Banaszkiewicz, Aleksandra Binka-Kowalska, Agnieszka Gilewska, Maria Constantinou, Bogdan Kałużewski

Med Sci Tech 2006; 47(2): RA101-104

ID: 881495

Available online:

Published: 1999-11-30

Introduction. During recent years, a number of genes have been identified the mutations of which are responsible for enhanced hereditary predisposition to neoplastic disease. The best known genes, associated with the predisposition to hereditary neoplasms, include: BRCA1, BRCA2, Rb1, MSH2, MLH1, MSH6. There is also a group of genes, the constitutional mutations of which increase the risk of neoplasm occurrence in certain organs, including among others: NBS1, NOD2, CHEK2, CYP1B1, CDKN2A. The occurrence of mutations in the above mentioned genes increases the risk of cancer in the breasts, the prostate, the colon and the rectum, the lungs, the larynx, the ovary, the thyroid gland and the kidneys, as well as of malignant melanoma. Materials and methods. Four (4) groups of patients were included in the study. Group I comprised 214 patients, referred to studies of BRCA1 gene mutations.Group II included 20 patients from a high risk group, threatened by colorectal neoplasms. Group III included 13 women with family history of breast cancer at the age above 50, as well as of colorectal cancer. Group IV consisted of 3 patients from a high risk group, with regards to prostate cancer. Results. At our Outpatient Clinic, the incidence of mutations of BRCA1,CHEK2 (I157T) and NOD2 genes was: 3.2%, 1.56% and 11.3%, respectively. Conclusions. The obtained incidence of mutations in BRCA1 gene was close to literature data. Mutations in CHEK2 gene were detected with lower frequency than it is reported data. (Clin. Exp. Med. Lett. 2006; 47(2):101-104)

Keywords: BRCA1, NOD2, CHEK2, mutations