Abstrakt

Deleterious effect of BRCA1 mutations in familial breast cancer: A SSCP analysis

Sudha Sellappa, Shibily Prathyumnan, Shyn Joseph, Sangeetha Raman

The frameshift mutation 185delAG, in the BRCA1 gene, which results in the generation of a stop codon at position 39 in exon 2 was detected in 6 patients, 5 of the patients were with stage III, with age group of 62, 44, 29, 41 and 56 years, and one patient with stage IV, with the age of 36 years. SSCPs are allelic variants of inherited, genetic traits that can be used as genetic markers and was done to determine the mutation. SSCP is most often used to analyze the polymorphisms at single loci.