|
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
|
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 |
Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
|
24702488 |
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 |
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 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Small molecule induced reactivation of mutant p53 in cancer cells.
|
23630318 |
2013 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
|
22923379 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
|
21761402 |
2012 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.
|
21356188 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
|
21343334 |
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 |
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.
|
20805372 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status.
|
20234365 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation.
|
20407015 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome.
|
19101993 |
2009 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
High frequency of de novo mutations in Li-Fraumeni syndrome.
|
19556618 |
2009 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.
|
18307025 |
2008 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS.
|
18307025 |
2008 |
|
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 |
Transcriptional functionality of germ line p53 mutants influences cancer phenotype.
|
17606709 |
2007 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
CausalMutation
|
CLINVAR |
Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.
|
17015838 |
2006 |