Problems of Radiation Medicine and Radiobiology

Prognosis of probability of BRCA1 and BRCA2 mutations carriage in women with compromised family history of breast and/or ovarian cancer

L. A. Rybchenko, A. M. Bychkova, G. V. Skyban, S. V. Klymenko
State Institution “National Research Center for Radiation Medicine of the National Academy of MedicalSciences of Ukraine”, Melnykov str., 53, Kyiv, 04050, Ukraine

Burdened family history of breast and/or ovarian cancer may indicate the mutations carriage in the BRCA1 and BRCA2genes.
Objective. Estimation and compare of the Manchester Scoring system, Penn II and Myriad algorithm in an ability to distinguish the cases with BRCA1/2 mutation those and no mutant alleles at the individual level among the Ukrainian women with early onset of a breast cancer and/or compromised family history with breast cancer and/or ovarian cancer.
Material and methods. Results of genealogy, molecular genetic and morphological study from 44 females with breast cancer, with early development of the disease or family history of a breast cancer and/or ovarian cancer were the material of research. Determination of carriers BRCA1 and BRCA2 mutations among women was performed by Manchester Scoring system and Penn II and Myriad algorithm.
Results and conclusions. Manchester Scoring system has better capacity to distinguish patients with and without mutant alleles at the individual level. The area under the curve of Manchester Scoring system is 0.84, Penn II – 0.66, Myriad – 0.68.

Key words: Manchester scoring system, Penn II, Myriad, BRCA1, BRCA2.

Problems of radiation medicine and radiobiology. 2013;18:253–260.