A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations

A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations

Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI). MSI is present in 85-90% of colorectal cancers that occur i...

Use of SDHB immunohistochemistry to identify germline mutations of SDH genes

Pheochromocytomas and paragangliomas occur sporadically but are commonly associated with the von Hippel Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1) and germline mutations of succinate dehydrogenase B (SDHB), C (SDHC) or D (SDHD). It is therefore recommended that genetic testing be considered if not performed in all cases of even apparently s...

GATA2 Germline Mutations Impair

Germline Mutations Impair

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

The currently known Mendelian colorectal cancer (CRC) predisposition syndromes account for ~5-10% of all CRC cases, and are caused by inherited germline mutations in single CRC predisposing genes. Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1. Fr...