|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
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 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
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 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors.
|
23733769 |
2013 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.
|
21192060 |
2011 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
|
20407015 |
2010 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Evaluation of transcriptional activity of p53 in individual living mammalian cells.
|
19454241 |
2009 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?
|
19717094 |
2009 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
|
16494995 |
2007 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Geographical variations in TP53 mutational spectrum in ovarian carcinomas.
|
16907706 |
2006 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation.
|
16033918 |
2006 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library.
|
16007150 |
2005 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
|
12826609 |
2003 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.
|
12692171 |
2003 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma.
|
12209975 |
2002 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
T |
0.900 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers.
|
10719737 |
2000 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
|
rs121912664
|
|
Li-Fraumeni Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |