Analysis of BRCA1 gene exon 2 mutation in breast cancer patients in a South Indian population

• Published in: Research journal of pharmacy and technology Vol. 11; no. 10; pp. 4592 - 4596
• Main Authors: Francis, Andrea Mary, Ramya, R., Ganesan, Nalini, Kumarasamy, P., Paul, Solomon F. D, Munirajan, A.K., Roobini, J.
• Format: Journal Article
• Language: English
• Published: Raipur A&V Publications 01.10.2018
• Subjects: Breast cancer; Family medical history; Genetic testing; Mutation; Ovarian cancer; India
• ISSN: 0974-3618; 0974-360X; 0974-306X
• DOI: 10.5958/0974-360X.2018.00840.5

Cancer trigger is caused by susceptibility genes in several modes one way is that the germ line mutations in DNA repair genes and tumour suppressor genes lead to accumulation of mutations in oncogenes and cell cycle check point genes and ultimately resulting in uncontrolled cell growth. [...]population specific mutation is not yet established for India. [...]testing the genetic status could probably offer management option for BRCA1 mutation carriers. The association of the mutation with breast cancer patients imposes genetic testing in familial cases, paving way for targeted therapy and precision medicine Figure 4 shows the pedigree of 4 interesting cases which had classic history of several family members being affected across generation. BRCA1 genetic testing is not carried routinely in laboratories for all breast cancer patients the testing is limited to familial history due to high cost involved in analysis, limited infrastructure laborious time consuming methodology and also the complexity involved in the huge exonic region of BRCA1 and BRCA2 and lack of established mutational hotspots or population specific founder mutation for India thus making it difficult to be practiced routinely.