A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family.

ABSTRACT:

Background

The use of high-throughput genotyping techniques has enabled us to identify the rare germline genetic variants with different pathogenicity and penetrance, and understand their role in cancer predisposition. We report here a familial cancer case, a study from Western Indian.

Methods

NGS-WES was carried out in a lung cancer patient who has a family history of multiple cancers across generations, including tongue, lung, brain, cervical, urothelial, and esophageal cancer. The results were validated by data mining from available data bases. I-TASSER, RasMol and PyMol were used for protein structure modelling.

Results

The sequencing by NGS-WES revealed PPM1D c.1654C>T (p.Arg552Ter) mutation in hotspot region exon 6 leading to sudden protein truncation and loss o

SUBMITTER: Biswas S 

PROVIDER: S-EPMC10505862 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature