Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
|
28503822 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
|
28528518 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
|
28466842 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
|
27978560 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
|
28286799 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Practical guidance for mismatch repair-deficiency testing in endometrial cancer.
|
27742654 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Lost in translation: returning germline genetic results in genome-scale cancer research.
|
28454591 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
|
27273229 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
|
28125078 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
|
28514183 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
|
28765196 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
|
28874130 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Practical guidance for mismatch repair-deficiency testing in endometrial cancer.
|
27742654 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
|
28466842 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
|
28365877 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
|
27694994 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
PMS2 monoallelic mutation carriers: the known unknown.
|
25856668 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan.
|
27589204 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |