RESUMO
We report a case of a 67-year-old man with pazopanib-resistant metastatic renal cell carcinoma (mRCC) who showed an exceptional response to everolimus. Furthermore, this patient had TSC1 and TSC2 mutations. Only a subset of patients with mRCC respond to mTOR inhibitors and emerging evidences indicate that TSC1 and TSC2 mutations could be markers of response to mTOR inhibition. The current case study supports these accruing evidences.
RESUMO
Aim: Breast cancer is leading cause of cancer deaths in women, globally. Recently a study on a Chinese population suggested that there is a protective role of rs11655505 (c.-2265 C/T) in the BRCA1 promoter whereas, the same in Caucasian population showed no effect on breast cancer prevalence. This study was undertaken to find out, if there is any association between rs11655505 (c.-2265 C/T) and breast cancer in an Indian population. Methodology: Blood samples were collected from 352 female breast cancer patients and 380 healthy women of age range 18-68 years. DNA was extracted from blood through standard salting out procedure. All the DNA samples were genotyped by using TaqMan® SNP Genotyping Assays. Data obtained was analyzed statistically to find out the possible association between the variation and predisposition of breast cancer Results: No association was found between rs11655505 and breast cancer occurrences in familial (p=0.61), non-familial (p=0.45) and premenopausal patients (p=0.52) groups. Menopausal group had a significant association (p=0.01) with studied SNP. Conclusion: Present study failed to confirm an association between of rs11655505 and breast cancer. Larger studies are required to consolidate if there is any little association of rs11655505 with breast cancer risk.