ArticleAmerican journal of cancer research2018
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome.
Article in American journal of cancer research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Breast Cancer after Radiation Therapy in a Patient with Li-Fraumeni Syndrome: A Case Report.Taehan Yongsang Uihakhoe chi · 2022Article
- Article
- Case Report: Identification of a Novel Pathogenic GermlineFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS. In this study, a patient with remarkable family history developed breast cancer and was diagnosed with LFS. By performing next-generation sequencing on the patient and subsequent verification by Sanger sequencing among other family members, a new germ-line P53 replication error, a trinucleotide repeat mutation in the coding region, was identified in two generations of this Li-Fraumeni family.
Indexed as
Identifiers
29416929PMC5794730W2979671430What OpenQuestion holds
Registered trials
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