hMSH6: a potential diagnostic marker for oral carcinoma in situ.
Brisbane, Australia. In J Clin Pathol, 28 Nov 2014
The focus of this study was the obligatory and non-obligatory components of the MutLα and MutSα mismatch repair heterodimers, namely hMLH1, hMSH2, hPMS2 and hMSH6, which were studied in 274 formalin-fixed paraffin-embedded sections.
Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair-deficient tumors.
Houston, United States. In Genet Med, 23 Nov 2014
Our study compared the family histories of MMRD+/germ-line- CRC and/or EC patients with LS CRC and/or EC patients.Methods:A total of 253 individuals with an MMRD CRC or EC from one institution were included for analysis in one of four groups: LS; MMRD+/germ-line-; MMRD tumor with variant of uncertain significance (MMRD+/VUS); and sporadic MSI-H (MMRD tumor with MLH1 promoter hypermethylation or BRAF mutation).
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
San Francisco, United States. In J Clin Oncol, Aug 2014
Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations.