Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
Houston, United States. In Ann Oncol, Feb 2016
RESULTS: Of the 1000 patients who underwent sequencing, 43 had likely pathogenic germline variants: APC (1), BRCA1 (11), BRCA2 (10), TP53 (10), MSH2 (1), MSH6 (4), PALB2 (2), PTEN (2), TSC2 (1), and RB1 (1).
Impact of Polymorphic Variations of Gemcitabine Metabolism, DNA Damage Repair, and Drug Resistance Genes on the Effect of High-Dose Chemotherapy for Relapsed or Refractory Lymphoid Malignancies.
Houston, United States. In Biol Blood Marrow Transplant, Jan 2016
EXPERIMENTAL DESIGN: We evaluated 21 germline SNPs of the gemcitabine metabolism genes CDA, dCK, and hCNT3, DNA damage repair genes RECQL, XRCC1, RAD54L, ATM, ATR, MLH1, MSH2, MSH3, TREX1, EXO1, and TP73, and multidrug resistance genes MRP2 and MRP5, as well as glutathione-S-transferase GSTP1 in 153 patients with relapsed or refractory lymphoma or myeloma receiving Gem/Bu/Mel.
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.