Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutational processes shape the landscape of TP53 mutations in human cancer.
|
30224644 |
2018 |
Li-Fraumeni Syndrome
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively.
|
25787918 |
2015 |
Li-Fraumeni Syndrome
|
|
0.820 |
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
|
26014290 |
2015 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.
|
25584008 |
2015 |
Li-Fraumeni Syndrome
|
|
0.820 |
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
|
24677579 |
2014 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species.
|
22899716 |
2012 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
|
21484931 |
2011 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Gastric cancer in individuals with Li-Fraumeni syndrome.
|
21552135 |
2011 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
|
20693561 |
2011 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
|
21484931 |
2011 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
The tumor suppressor p53: from structures to drug discovery.
|
20516128 |
2010 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
|
17540308 |
2007 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.
|
17636407 |
2007 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome.
|
16401470 |
2006 |
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.
|
15390294 |
2004 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome.
|
15607980 |
2004 |
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
|
12672316 |
2003 |