title: Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population.
abstract: Global burden of breast cancer is expected to increase to >2 million new cases every year by 2030 and 10% of these are likely to have hereditary breast and ovarian cancer syndrome. Identifying these individuals by pedigree and BRCA1/2 mutation analyses will enable us to offer targeted mutation testing and appropriate counseling. This study from a tertiary care hospital showed that of the 127 breast cancer patients on treatment during 2014-2015, 24 of them fulfilled the criteria of hereditary breast and ovarian cancer syndrome after detailed verbal autopsy and pedigree analysis, and BRCA1 and 2 next-generation sequencing done after pre-test counseling revealed mutations in 13 cases (54%), these included 9 BRCA1 mutations (69%) and 4 BRCA2 mutation (31%). Subsequent post-test counseling recommended targeted mutation analysis for 64 high-risk members in these 13 families with pathogenic mutations, which will help in surveillance for early detection, appropriate management, and prevention of the disease by decreasing the burden to both family and nation. Results from this preliminary study highlight the importance of genetic counseling, pedigree analysis, and genetic testing. It can be recommended that all oncology units should have a genetic counseling service for providing appropriate support to oncologists, patients, and families to prevent unnecessary testing; however, breast cancer screening program is incomplete without evaluating for hereditary breast and ovarian cancer syndrome.
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Mina
authors.initials: M
authors.lastname: Darooei
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Subhadra
authors.initials: S
authors.lastname: Poornima
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Bibi Umae
authors.initials: BU
authors.lastname: Salma
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Gayatri R
authors.initials: GR
authors.lastname: Iyer
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Akhilesh N
authors.initials: AN
authors.lastname: Pujar
authors.affiliation: 2 Department of Radiology, Kamineni Academy of Medical Sciences and Research Centre, Hyderabad, India.
authors.forename: Srirambhatla
authors.initials: S
authors.lastname: Annapurna
authors.affiliation: 3 Department of Oncology, Kamineni Hospitals, Hyderabad, India.
authors.forename: Ashwin
authors.initials: A
authors.lastname: Shah
authors.affiliation: 3 Department of Oncology, Kamineni Hospitals, Hyderabad, India.
authors.forename: Srinivas
authors.initials: S
authors.lastname: Maddali
authors.affiliation: 1 Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
authors.forename: Qurratulain
authors.initials: Q
authors.lastname: Hasan
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000401:mortality; D010375:Pedigree
keywords: BRCA genes; Breast cancer; genetic counseling; hereditary breast cancer and ovarian syndrome; pedigree analysis