Somatic Mutation Panel (48 Genes) Test Cost & Procedure

To find therapeutically sensitising and resistance mutations in cancers, somatic mutation study is a routine procedure. This enables a more accurate diagnosis and prognosis as well as specific therapy catered to the tumour characteristics of each patient.

Background

It is unusual to do multiple targeted gene sequencing for both germline and somatic experimenting for ovarian cancer. The precision of this forthcoming comrade investigation is to estimate the unique hereditary anomalies, comprising bodily and germline modifications.

Methodology:

The procedure for this test uses PCR-based Next Generation Sequencing to analyse DNA from formalin-fixed, paraffin-embedded (FFPE) tissue or fresh tissue, such as bone marrow and peripheral blood. Exons 2 through 11 of TP53's complete coding area were sequenced utilising massively parallel sequencing (next-generation sequencing), multiplexed PCR, and sequencing on an Illumina platform. Multiple well-known variant calling tools (FreeBayes, MuTect2, and Scalpel) and a variant annotation tool have been employed in an internal bioinformatics study pipeline (Oncotator).

Materials and methods

Targeted exon capture and NGS technology were used to discover modifications in a specialised 21-gene committee that comprised BRCA1, BRCA2, and 19 other tumour suppressor genesis correlated to HR weakness or non-HR weakness across all coding exons and exon-intron (20 base pairs) limitations. Patients were added sequentially and randomly, without regard to their age or family history. In our investigation, fitted bodily and germline modifications were examined in 62 unselected patients with epithelial ovarian cancer.

Results

Mutation analysis showed that 77.4% (48/62) of the patients had one or more of the 64 genetic changes that had been detected, including 19 germline and 45 somatic mutations that were harmful. Twelve people had mutations in both their somatic and germline tissues. A total of 17 out of 62 (27.3%) patients had BRCA mutations. TP53, PTEN, ATM, CHEK2, PALB2, RAD51C, and STK11 were among the seven other HR or non-HR genes in which 46 (74.2%) of the 64 mutations were found.

Conclusions

This is the first account of Chinese EOC patients having a multi-gene panel test for germline and somatic mutations, which identified more harmful variants than just BRCA testing.