|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
|
27064304 |
2016 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
2016 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
|
27064304 |
2016 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
|
25559809 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
|
24130102 |
2014 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
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 |
CausalMutation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
|
20487569 |
2010 |
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
|
20487569 |
2010 |