Cytogenetic Finding of Breast Cancer Cases and in Their First-Degree Relatives

Abstract

PurposeThe aim of this study was to evaluate and compare the rate of sister chromatid exchange (SCE), the occurrence of micronuclei, and the lymphocyte proliferation rate index (PRI) in patients with breast cancer, their first-degree relatives, and healthy volunteers.MethodsWe analyzed the frequency of SCE and micronuclei, and the PRI in the peripheral blood lymphocytes of 30 women with breast cancer, 22 of their female family members, and 20 age-matched healthy female volunteers.ResultsSCE occurred significantly more often in the lymphocytes of breast cancer patients (10.84±0.4 per metaphase), compared with their first-degree relatives (7.45±0.54) and controls (5.94±0.2) (p<0.001 for both). The mean SCE frequency was not statistically different between first-degree relatives and controls (p=0.071). Similarly, micronuclei occurred at a significantly higher rate in breast cancer patients (9.6±0.72), and in their first-degree relatives (7±0.64), compared to controls (3.85±0.4) (p<0.001 and p=0.001, respectively). There was also a significant difference between the occurrence of micronuclei in patients compared to their family members (p=0.021). The PRI was significantly lower in patients (1.61±0.1), compared with both their first-degree relatives (1.75±0.1), and controls (1.74±0.1) (p=0.001 and p=0.002, respectively).ConclusionIncreased SCE and the occurrence of micronuclei, as well as a reduced PRI are associated with breast cancer. Furthermore, increased SCE and the frequency of micronuclei in a first-degree relative suggest that they exhibit greater genetic instability than women of the same age.

Cytogenetic findings in patients diagnosed with breast cancer having undergone adjuvant chemotherapy regimens

“…In the present study, the extent of spontaneous chromosome damage in lymphocytes of BC patients and control subjects was examined. Basal levels of DNA damage in peripheral lymphocytes of untreated BC patients have been described previously (Cefle et al, 2006;Kopjar et al, 2007;Aristei et al, 2009;Santos et al, 2010;Çelik et al, 2013). In these studies, such damage was found to be significantly higher in BC patients than in control subjects.…”

Sister chromatid exchange: A possible approach to characterize familial breast cancer patients

“…In the present study, a significant increase in the frequency of SCE was observed in familial compared to sporadic patients, hypothesizing an increased genome susceptibility as previously reported (13). However, in our series of BC patients, we found an SCE frequency lower than that of other studies (13,21). We believe that the frequency of SCE of the BC patients from the Apulia Caucasian population is different than that in other populations.…”

Aurora B–mediated localized delays in nuclear envelope formation facilitate inclusion of late-segregating chromosome fragments

“…This appears to be a direct consequence of the failure to form a nuclear envelope gap, blocking the acentric chromosome from entering the daughter telophase nucleus. Historically, micronuclei have been used as biomarkers for genomic instability, and their increased presence of micronuclei in human cells is typically associated with cancer ( Bonassi et al ., 2011 ; Santos et al ., 2010 ; Celik et al ., 2013 ). As such, there has been much interest in understanding the cellular response to micronucleus formation and subsequent micronucleus fate ( Fenech et al ., 2011 ; Huang et al ., 2011 ; Kirsch-Volders et al ., 2011 ; Hatch et al ., 2013 ; Ji et al ., 2013 ).…”