|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
|
28503822 |
2018 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
|
28503822 |
2018 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
|
28365877 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
|
28365877 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
|
27435373 |
2016 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
25452455 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
25394175 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.
|
23837913 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
|
23435383 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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.
|
22167527 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
|
20186688 |
2010 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Drastic genetic instability of tumors and normal tissues in Turcot syndrome.
|
9419979 |
1997 |
|
Turcot syndrome (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The molecular basis of Turcot's syndrome.
|
7661930 |
1995 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer.
|
28365877 |
2017 |
|
Hereditary Malignant Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer.
|
28365877 |
2017 |