×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR ) genes.
27886675 2016
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
Biomarker
group
BEFREE
LS is one of the most prevalent hereditary cancer syndromes in man and accounts for 1-3 % of unselected colorectal carcinomas and some 15 % of those with microsatellite instability and/or absent MMR protein.
26873718 2016
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR ) genes.
25200962 2014
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
Biomarker
group
BEFREE
Alterations in KRAS, BRAF, or mismatch repair (MMR ) genes may determine therapeutic response or define a hereditary cancer syndrome .
23773459 2013
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR ) genes, MLH1, MSH2, MSH6, and PMS2.
21769135 2011
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
Lynch syndrome is an inherited cancer syndrome caused by germline mutations in mismatch repair (MMR ) genes MLH1, MSH2, MSH6 and PMS2.
19728162 2009
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer syndrome associated with germline mutations in DNA mismatch repair (MMR ) genes.
16353134 2006
×
Entrez Id: 4360
Gene Symbol: MRC1
MRC1
0.080
GeneticVariation
group
BEFREE
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome caused by germline defects of mismatch repair (MMR ) genes.
10196371 1999
×
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
0.100
CausalMutation
group
CLINVAR
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
26581862 2019
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.100
CausalMutation
group
CLINVAR
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
31349801 2019
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
0.100
CausalMutation
group
CLINVAR
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
26581862 2019
×
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100
CausalMutation
group
CLINVAR
Development of a high risk pancreatic screening clinic using 3.0 T MRI.
29101607 2018
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
0.100
CausalMutation
group
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776 2018
C11orf65
0.100
CausalMutation
group
CLINVAR
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
29368341 2018
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.100
GeneticVariation
group
CLINVAR
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
28608266 2018
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.100
GeneticVariation
group
CLINVAR
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
29368341 2018
C11orf65
0.100
CausalMutation
group
CLINVAR
Pathogenic Germline Variants in 10,389 Adult Cancers.
29625052 2018
×
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.100
GeneticVariation
group
CLINVAR
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB , SDHC and SDHD .
29386252 2018
×
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
0.100
CausalMutation
group
CLINVAR
Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
28821472 2018
×
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100
CausalMutation
group
CLINVAR
Pathogenic Germline Variants in 10,389 Adult Cancers.
29625052 2018
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
0.100
GeneticVariation
group
CLINVAR
A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.
29520813 2018
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
0.100
CausalMutation
group
CLINVAR
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.
29415745 2018
×
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
0.100
CausalMutation
group
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776 2018
×
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100
CausalMutation
group
CLINVAR
Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.
29678143 2018
×
Entrez Id: 472
Gene Symbol: ATM
ATM
0.100
CausalMutation
group
CLINVAR
Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
29486991 2018