Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan
Identification of Mutations in Gene BRCA1/2 in Breast Cancer Cases from Balochistan, Pakistan
Asma Yousafzai1,*, Muhammad Luqman2, Nisar Ahmed1, Muneeza Arbab1,Muhammad Murad1, Naheed Sajjad3, Sara Naudhani1, Shakeela Daud1, Abdul Hameed Baloch4, Khushnaseeb5, Sana Zahoor6, Zahid Rauf7, Muhammad Mohsin Javed6 and Jamil Ahmad1
ABSTRACT
BRCA1/2 genes are highly susceptible genes for both breast and ovarian cancer and account for 15-20% of all the hereditary breast cancer cases. Present study was aimed at identifying mutation in BRCA1/2 in breast cancer patients in Balochistan. Blood samples of 100 subjects including 50 breast cancer cases and 50 normal subjects were used to determine genetic variants in BRCA1 and BRCA2. Nine variants were identified in BRCA1 and four were identified in BRCA2. In case of BRCA1, six missense substitutions (p.Asp343Tyr, p.Gly393Asp, p.Ser561Phe, p.Ser616Phe, p.Pro871Leu and p.Ser1613Gly) two frameshift (p.Ser423fs and p.Gly1770fs) and nonsense mutation (p.Glu1250X) was identified. In case of gene BRCA2, all the four variants were missense substitutions (p.Glu58Lys, p.Asp99Asn, p.Asp104Asn and p.Pro999Gln). The data reported here will be valuable addition for the future genetic screening of the breast cancer patients of Balochistan.
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August 2019
Vol. 51, Iss. 4, Pages 1203-1598
