present in Gene: EPM2AIP1;MLH1
present in Chromosome: 3
Position on Chromosome: 36993651
Alleles of this Variant: TG/AC
rs121912965 in
EPM2AIP1;MLH1 gene and
Turcot syndrome (disorder)
PMID 22167527 2012 Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.
PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
PMID 25452455 2015 Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines.
PMID 11427529 2001 The interaction of DNA mismatch repair proteins with human exonuclease I.
PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 7661930 1995 The molecular basis of Turcot's syndrome.
PMID 17440981 2007 Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.