Disease-associated repeat instability and mismatch repair.
Toronto, Canada. In Dna Repair (amst), Jan 2016
Recent advances have broadened our knowledge of both the MMR proteins involved in disease repeat expansions, including: MSH2, MSH3, MSH6, MLH1, PMS2, and MLH3, as well as the types of repeats affected by MMR, now including: (CAG)·(CTG), (CGG)·(CCG), and (GAA)·(TTC) repeats.
Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.
Groningen, Netherlands. In Dna Repair (amst), Jan 2016
UNASSIGNED: Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive Constitutional Mismatch Repair Deficiency syndrome.
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
San Francisco, United States. In J Clin Oncol, 2014
Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations.