×
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
26581862 2019
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
26581862 2019
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Development of a high risk pancreatic screening clinic using 3.0 T MRI.
29101607 2018
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776 2018
C11orf65
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
28608266 2018
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
29368341 2018
C11orf65
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Pathogenic Germline Variants in 10,389 Adult Cancers.
29625052 2018
×
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Pathogenic Germline Variants in 10,389 Adult Cancers.
29625052 2018
×
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.
29520813 2018
×
Entrez Id: 4763
Gene Symbol: NF1
NF1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.
29415745 2018
×
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Cutaneous melanoma in Birt-Hogg-Dubé syndrome: part of the clinical spectrum?
28869776 2018
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
C11orf65
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.
29678143 2018
×
Entrez Id: 5925
Gene Symbol: RB1
RB1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.
28803391 2018
×
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
29020732 2018
×
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
29177515 2018
×
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
29720200 2018
C11orf65
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Development of a high risk pancreatic screening clinic using 3.0 T MRI.
29101607 2018
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
29368341 2018
×
Entrez Id: 580
Gene Symbol: BARD1
BARD1
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
28152038 2017