Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Notably, no individuals with confirmed germline or likely germline TP53 PVs met classic Li-Fraumeni syndrome (LFS) criteria, only 41% met Chompret LFS criteria, and 59% met neither criteria, based upon provider-reported personal and family cancer history.
|
31490007 |
2020 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, the functional MIR605 variant rs2043556 (A>G) has been identified as a novel LFS phenotype modifier in families with germline TP53 DNA binding variants.
|
31778928 |
2020 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder associated with TP53 germline mutations and an increased lifetime risk of multiple primary cancers (MPC).
|
31719099 |
2020 |
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This enabled successful estimation of TP53 penetrance for three LFS cancer types: breast (BR), sarcoma (SA), and others (OT), from 186 pediatric sarcoma families collected at MD Anderson Cancer Center.
|
31719101 |
2020 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
|
29752822 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the prevalence of other tumors of the Li-Fraumeni syndrome (LFS) and Li-Fraumeni-like syndrome (LFL) spectrum, the clinical outcomes and the potential tumor occurrence in relatives carrying this distinct TP53 mutation were not fully investigated.
|
30974190 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we present a total of 24 different TP53 variants identified in 31 Swedish families with LFS or HrBC.
|
31081129 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in the TP53 gene cause Li-Fraumeni syndrome, a condition that predisposes individuals to a wide range of cancer types.
|
30840781 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Questionnaire data were collected for 152 women with confirmed germline TP53 variants enrolled in the National Cancer Institute's LFS study (NCT01443468); of which, 85 had breast cancer, confirmed by pathology/medical reports.
|
31212162 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
For PV carriers in high-penetrance genes like BRCA1, BRCA2, and TP53, prophylactic mastectomy is often recommended and radiation therapy avoided when possible for those with Li-Fraumeni syndrome (LFS).
|
31533767 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report cases highlights the challenges and impact of TP53 variant interpretation especially when there is no clear LFS/LFL phenotype.
|
31321604 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All patients with the TP53 mutations had a family history suggestive of LFS.
|
30709381 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Data are however scarce regarding ILC in women with BRCA1/2 (Hereditary Breast and Ovarian Cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
|
30414230 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The p.R337H mutation in TP53 gene was found in one patient clinically diagnosed as HBOC and without clinical criteria for Li-Fraumeni syndrome.
|
30535581 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive approaches are needed to better understand the interplay of germline TP53 variant classification, prevalence estimates, cancer penetrance, and LFS-associated phenotype.
|
30352134 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by germline TP53 mutations.
|
30191952 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic counseling for panel-ascertained TP53+ individuals should reflect the dynamic expansion of the Li-Fraumeni syndrome phenotype.
|
31105275 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TP53 pathogenic germline variation is associated with the multi-cancer predisposition Li-Fraumeni syndrome (LFS).
|
31296311 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with germline TP53 pathogenic variants (Li-Fraumeni syndrome [LFS]) are at extremely high lifetime risk of developing cancer.
|
30719841 |
2019 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Epidermal growth factor receptor (EGFR) mutation-driven lung cancer is a rare occurrence in patients with Li-Fraumeni syndrome (LFS) characterized by germline mutations in the tumor protein 53 (TP53) gene.
|
29854570 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Li-Fraumeni syndrome (LFS) is associated with germline mutations in the tumour suppressor gene, TP53.
|
29392648 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One family with LFS with a germline TP53 D49H mutation has previously been reported.
|
28902083 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline TP53 mutation, usually associated with Li-Fraumeni syndrome, is a rare event in UM.
|
29769598 |
2018 |
Li-Fraumeni Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Li-Fraumeni syndrome (LFS), due to TP53 germline mutations, is characterised by a remarkably high incidence of multiple primary cancers (MPCs), and the key role of p53 in response to DNA damage questions the contribution of anticancer treatments to MPCs development.
|
30072235 |
2018 |