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Li-Fraumeni syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Li-Fraumeni syndrome" returned 14 free, full-text review articles. First few results:
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
Last Updated: Mar 09, 2020

The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) (<‚ÄČ25-35%) are highlighted on germline genetic test reports. ...

[Update on Li-Fraumeni syndrome].
Last Updated: Jan 08, 2020

The Li-Fraumeni syndrome (LFS, online Mendelian inheritance in man, OMIM #151623) is considered to be one of the currently known most aggressive cancer predisposition syndromes. The heterogeneous spectrum of tumors is dominated by bone and soft tissue sarcomas, various brain tumors, ...

Hematologic malignancies and Li-Fraumeni syndrome.
Last Updated: Mar 30, 2020

Li-Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood- and adult-onset cancers. LFS is related to germline mutations of the tumor-suppressor gene The most common reported leukemia associated with LFS is hypodiploid ...

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14 Free Review Articles 41 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Li-Fraumeni syndrome" returned 0 free, full-text editorial articles. First 0 results:
Full PubMed Editorials matches at NCBI:
0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Li-Fraumeni syndrome" returned 113 free, full-text research articles. First few results:
The function of a heterozygous p53 mutation in a Li-Fraumeni syndrome patient.
Last Updated: Aug 24, 2020

p53 is one of the most extensively studied proteins in cancer research. Mutations in p53 generally abolish normal p53 function, and some mutants can gain new oncogenic functions. However, the mechanisms underlying p53 mutation-driven cancer remains to be elucidated. Our study investigated ...

Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts.
Last Updated: Jul 17, 2020

Li-Fraumeni syndrome (LFS) is a rare hereditary cancer syndrome associated with an autosomal-dominant mutation inheritance in the tumor suppressor gene and a wide spectrum of cancer diagnoses. The previously developed R package, LFSPRO, is capable of estimating the risk of an individual ...

Penetrance Estimates Over Time to First and Second Primary Cancer Diagnosis in Families with Li-Fraumeni Syndrome: A Single Institution Perspective.
Last Updated: Jul 17, 2020

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder associated with germline mutations and an increased lifetime risk of multiple primary cancers (MPC). Penetrance estimation of time to first and second primary cancer within LFS remains challenging because of limited ...

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113 Free Research Articles 271 Research Articles