Jaya Singh

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories, ⩽40 years, 40–50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.

Study of Biological Efficiency and Yield of Oyster Mushroom with Chemical Treatment

Various concentration of nitrogen source, e.g. peptone, few carbon, viz ., maltose and lactose and inorganic chemicals, viz ., MgSO 4 and FeSO 4 (0.5 to 1.0) were screened to determine the most suitable concentration for better yield of Pleurotus sajor-caju , It was found that all the carbon source and inorganic chemicals gave maximum yield and biological efficiency in 0.5 per cent concentration. On that basis maltose and MgSO 4 were proved superior carbon source and inorganic chemical, respectively. Peptone, the semisolid protein as nitrogen source gave maximum yield and biological efficiency in 0.5 per cent concentration.

Genotype-Phenotype Analysis in an Indian Family Affected with Li-Fraumeni Syndrome-Role of Genetic Counselling

Abstract Li-Fraumeni syndrome (LFS) is associated with the high risk of a diverse spectrum of childhood and adult-onset malignancies with a predominance of the soft-tissue sarcomas, osteosarcoma, breast cancer, brain tumor, adrenocortical carcinomas, Wilms tumor, leukaemia and several other LFS-associated cancer types. This paper reports a case of a 43 years male diagnosed with an undifferentiated, high grade sarcoma. Genetic testing by Next Generation Sequencing revealed a heterozygous likely novel pathogenic germline mutation in the TP53 gene (c.323delG; p.Gly108ValfsTer15) in the proband. Post-test genetic counselling referred the family screening and the other eight family members were found to be carrier for the same variant. Thus the researchers have tried to describe the genotype-phenotype correlation for the LFS with the TP53 mutation which may have contributed to the variable phenotypes in the reported family with reduced/ incomplete penetrance. In this paper the researchers have also tried to highlight the cancer genetic counselling to detect an inherited cancer syndrome