A study of chromosome aneuploidy in hereditary breast cancer patients and their healthy blood relatives.

Chromosomal abnormalities that may predispose a group of individuals to develop certain neoplasms have been reported in lymphocytes. We evaluated cytogenetic abnormalities in 21 histopathologically confirmed primary breast cancer patients (BCPs), 52 healthy blood relatives (HBRs), belonging to 19 hereditary breast cancer families (HBFs) and 25 females as control. Phytohemagglutinin stimulated peripheral blood lymphocyte (PBL) cultures were used to study the chromosomal abnormalities in BCPs and their HBRs. Short term culture of the tumor tissue was also carried out in defined growth medium. Suitable metaphases (11 to 55) from tumors and a minimum of 100 metaphases from PBL were karyotyped for the cytogenetic analysis. Heterogeneous population of cells with random and nonrandom chromosomal abnormalities was noticed in tumors. In control groups 2-5% of metaphases showed numerical abnormalities, whereas this phenomenon was observed in 3-18% of metaphases in HBRs and 3-23% of metaphases in BCPs. In tumor tissue, 47.05% of BCPs showed numerical abnormalities in more than 16 metaphases. In lymphocytes, this event was observed in 33.33% of BCPs and 13.14% of HBRs. In controls 1.28%, in BCPs 52.04% (tumor) and 13.42% (lymphocytes), and in HBRs 9.03% of metaphases were found aneuploid. Statistically it was highly significant (Fisher's exact test, P<0.00001). In lymphocytes of BCPs, chromosomes 1, 6, 8, 9, 15, 17, 18, 20, and X and in HBRs, chromosomes 8, 15, 17, 18, and X were frequently involved. It can be inferred from the findings that the above mentioned chromosomes may have an important role in early stage of breast carcinogenesis in BCFs. Moreover, presence of similar abnormalities in HBR indicates inherited pattern of this genetic error among them.