BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India / 한국유방암학회지

Male breast cancer (MBC) is a rare and poorly studied disease that is a growing global health problem. Interestingly, both the molecular basis of MBC and its histological profile are often quite distinct from the far more prevalent female breast cancer, emphasizing the need for increased focus on MBC. Here, we present a case report of an MBC patient from India with a strong familial history of breast cancer. This patient was normal for BRCA1/2 and many other common breast cancer-associated genes. However, upon further analysis, the individual was found to possess two mutations in the DNA helicase and tumor suppressor gene BRIP1, including a silent mutation at residue 879 as well as a P919S variant. Other family members were also screened for these mutations. To the best of our knowledge, this is the first report of BRIP1 mutation in MBC in the Indian population.

Common SNP of IL-10 [-1082A/G] is associated with increased risk of Premenopausal Breast Cancer in South Indian Women

Background: Evading the immune destruction and angiogenesis has been the two hallmarks of cancer. Interleukin-10 [IL-10] is a cytokine with immune suppressing [pro-tumorigenic] and anti-angiogenic [anti-tumorigenic] properties, thus making the role of IL-10 in tumorigenesis enigmatic. Previous studies have suggested a critical role of IL10 altered expression in complex process of tumor-microenvironment, co-evolution and tumorigenesis

Objectives: Evaluating the role of IL10 [-1082A/G] gene promoter polymorphism in breast cancer patients from South India

Patients and Methods: A case-control study was conducted with a total of 285 individuals, these include 125 histologically confirmed breast cancer patients and 160 age and sex matched controls. Genotypes were determined by allele-specific polymerase chain reaction [AS-PCR], followed by agarose gel electrophoresis. Statistical analysis was done to test the significance of results obtained

Results: Statistical analysis revealed that AA genotype of the Il-10 -1082A/G polymorphism is significantly associated with breast cancer [AA vs. AG: x[2] = 14.46, P = 0.0001432, OR = 2.854, 95% CI = 1.68 - 4.849]. Up on stratifying subjects based on cancer stage, age at onset, menopausal status, AA genotype has associated with all the sub groups, except for post-menopausal women. There was no significant association which was observed with respected to hormonal status [ER, PR] and Her2/neu status

Conclusions: The present study suggests that IL-10 AA genotype as a risk factor in the etiology of breast cancer in the South Indian population