×
Entrez Id:
23405
Gene Symbol:
DICER1
DICER1
0.120
GeneticVariation
group
BEFREE
• DICER1 germline mutations are associated with an inherited cancer syndrome , most commonly pleuropulmonary blastoma, ovarian sex cord tumors, thyroid cysts/goitre, and cystic nephroma.
26526666
2016
×
Entrez Id:
6390
Gene Symbol:
SDHB
SDHB
0.110
CausalMutation
group
CLINVAR
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
21909610
2011
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
0.130
CausalMutation
group
CLINVAR
[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].
15945244
2005
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
CausalMutation
group
CLINVAR
[The analysis for mRNA mutation of MLH1, MSH2 genes and the gene diagnosis for hereditary nonpolyposis colorectal cancer].
16456782
2006
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
0.100
CausalMutation
group
CLINVAR
[Phenotypic and genetic features in neurofibromatosis type 1 in children].
25541118
2015
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.150
CausalMutation
group
CLINVAR
[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].
16324400
2005
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
0.110
CausalMutation
group
CLINVAR
[Mutation screening and prenatal diagnosis of tuberous sclerosis complex].
21811971
2011
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
GeneticVariation
group
CLINVAR
[Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families].
14514376
2003
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
CausalMutation
group
CLINVAR
[Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families].
14514376
2003
×
Entrez Id:
4436
Gene Symbol:
MSH2
MSH2
0.130
GeneticVariation
group
CLINVAR
[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].
10530344
1999
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
0.170
CausalMutation
group
CLINVAR
[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation].
20478780
2010
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
CausalMutation
group
CLINVAR
[Founder mutation in Lynch syndrome].
27295708
2016
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
GeneticVariation
group
CLINVAR
[Detection mutations in the DNA mismatch repair genes of hMLH1 and hMSH2 genes in Colombian families with suspicion of hereditary non-polyposis colorectal carcinoma (Lynch syndrome)].
16276679
2005
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
0.170
CausalMutation
group
CLINVAR
[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].
12406399
2002
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.150
CausalMutation
group
CLINVAR
[Clinical value of screening hereditary nonpolyposis colorectal cancer in China with protocol recommended by NCCN guidelines].
18636350
2008
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
0.100
CausalMutation
group
CLINVAR
[Birt-Hogg-Dubé syndrome: an update].
21937013
2012
×
Entrez Id:
201163
Gene Symbol:
FLCN
FLCN
0.100
CausalMutation
group
CLINVAR
[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
19457309
2009
×
Entrez Id:
23164
Gene Symbol:
MPRIP
MPRIP
0.100
CausalMutation
group
CLINVAR
[Birt-Hogg-Dubé syndrome in a patient with cutaneous symptoms and a c.1429 C > T;p.R477X mutation in exon 12 of the folliculin gene].
19457309
2009
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.150
CausalMutation
group
CLINVAR
[Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients].
12947551
2003
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.150
CausalMutation
group
CLINVAR
[Analysis of mutations in genes BRCA1 and BRCA2 among patients with breast and ovarian cancer in northern Portugal and Galicia].
12060539
2002
×
Entrez Id:
675
Gene Symbol:
BRCA2
BRCA2
0.130
CausalMutation
group
CLINVAR
[Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].
18393245
2008
×
Entrez Id:
324
Gene Symbol:
APC
APC
0.110
CausalMutation
group
CLINVAR
[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].
16883523
2006
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.150
CausalMutation
group
CLINVAR
[5589del8: the recurrent mutation of BRCA1 gene in Chinese breast cancer patients].
17680524
2007
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
0.150
CausalMutation
group
CLINVAR
Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.
16287141
2005
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
0.110
CausalMutation
group
CLINVAR
Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
22081473
2012