Screening, diagnosis and genetic study of breast cancer patients in Pakistan.

Objective: To determine the role of variants in gene in breast cancer development, women of Pakistani origin, diagnosed with breast cancer, were screened for variants in the .

Methods: The present study involved screening of 5000 women for breast cancer. 302 women were diagnosed with breast cancer. Using Sanger sequencing, DNA extracted from peripheral blood of 100 patients was screened for disease causing variants in the .

Results: Analysis of sequenced data revealed two frame shift (Gly312Trpfs*8, Ala322Glyfs*4), six missense (p.Glu362Lys, p.Lys651Arg, p.Asp693Asn, p.Pro871Leu, p.Glu1134Lys, p.Lys1183Arg), four synonymous (p.Thr327Thr, p.Ser694Ser, p.His771His, p.Gln1135Gln), and two intronic variants (g.75407T>C, g.75401_75401delT) in the patients.

Conclusion: The present investigation showed that variations in made substantial contribution in causing hereditary/early-onset breast cancer in Pakistani women.