Aims: Breast cancer is the second most common cancer in the world and, by far, the most
frequent cancer among women. Scientific literature has hypothesized the association of ACE I/D
polymorphism with breast cancer for several decades. Unfortunately the outcomes of studies are inconsistent.
Thus the present study was designed to evaluate the association of ACE gene (I/D) polymorphism
with breast cancer in Indian population.
Methods: Genotyping was performed by PCR (polymerase chain reaction), using genomic DNA extracted
from peripheral blood of subjects, with (213 cases) or without (213 controls) breast cancer.
Findings: The distribution of ACE genotype frequencies i.e. II, DD and ID in patients was 43.19%,
16.43% and 40.38% respectively. In healthy control group II, DD and ID frequencies were 52.58%,
11.27% and 36.15% respectively. The frequencies of D and I alleles were 29.34% and 70.66% in the
healthy subjects, while 36.62% and 63.38% among the patient group. Frequency of D allele was significantly
different (p=0.0287) between control and case subjects.
Significance: The present study showed an association of D allele of ACE gene with increased genetic
risk factor for breast cancer in Indian women. 0.2% increased disease risk was found in patients
carrying D allele.