|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germ line mutation in exon 5 of the p53 gene in an extended cancer family.
|
1933902 |
1991 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families.
|
10922393 |
2000 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia with TP53 germ line mutations.
|
27621308 |
2016 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
|
8825920 |
1995 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
|
20128691 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation.
|
20128691 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
|
12917626 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay.
|
12917626 |
2003 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning.
|
9667734 |
1998 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
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
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Dominant-negative mutations of the tumor suppressor p53 relating to early onset of glioblastoma multiforme.
|
10519380 |
1999 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
|
21761402 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent.
|
23406775 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
Li-Fraumeni Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
|
1978757 |
1990 |