|
rs121912664
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature.
|
31748977 |
2020 |
|
rs121912664
|
|
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
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The arginine to histidine substitution at amino acid position 337 of p53 (R337H) is a founder mutation highly prevalent in southern and southeastern Brazil and is considered an LFS mutation.
|
30042151 |
2018 |
|
rs121912664
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.
|
9704930 |
1998 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome.
|
19046423 |
2008 |
|
rs121912664
|
|
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
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
BEFREE |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
ChIP-Seq analysis of LFS lymphocytes carrying TP53 null mutations (p.P152Rfs*18 or complete deletion) or the low penetrant 'Brazilian' p.R337H mutation revealed a moderate decrease of p53-binding sites (949, 580 and 620, respectively) and of ChIP-Seq peak depths.
|
28369373 |
2017 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
|
rs121912664
|
|
G |
0.900 |
GeneticVariation |
CLINVAR |
Geographical variations in TP53 mutational spectrum in ovarian carcinomas.
|
16907706 |
2006 |
|
rs121912664
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
rs121912664
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs121912664
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
|
rs121912664
|
|
|
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 |
|
rs121912651
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer.
|
8425176 |
1993 |
|
rs121912651
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
rs121912651
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
rs121912651
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
|
23950206 |
2013 |