|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
|
21761402 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.
|
22672556 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome.
|
21305319 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
|
19468865 |
2009 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome.
|
11370630 |
2001 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma.
|
1565143 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
|
Li-Fraumeni Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |