rs28934576
|
|
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 |
rs28934576
|
|
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 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
|
20065170 |
2010 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A germline missense mutation R337C in exon 10 of the human p53 gene.
|
9452042 |
1998 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
|
9242456 |
1997 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Gastric cancer in individuals with Li-Fraumeni syndrome.
|
21552135 |
2011 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome.
|
17540308 |
2007 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.
|
10484981 |
1999 |
rs28934576
|
|
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 |
rs28934576
|
|
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 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li--Fraumeni syndrome.
|
20693561 |
2011 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
|
1565144 |
1992 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
The tumor suppressor p53: from structures to drug discovery.
|
20516128 |
2010 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
|
26014290 |
2015 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.
|
2259385 |
1991 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy.
|
24677579 |
2014 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.
|
7887414 |
1995 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
|
10864200 |
2000 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells.
|
17636407 |
2007 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia.
|
1737852 |
1992 |
rs28934576
|
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
|
15604628 |
2004 |