ArticleGut2003
A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours.
Article in Gut, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Emerging insights into ethnic-specific TP53 germline variants.Journal of the National Cancer Institute · 2023Review
- GermlineClinical case reports · 2021Article
- Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.Cancer science · 2021Article
- The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome.Internal medicine (Tokyo, Japan) · 2017Article
- A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer.Annals of laboratory medicine · 2013Article
- Functional mutants of the sequence-specific transcription factor p53 and implications for master genes of diversity.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During a search for causative genes in patients with concurrent multiple primary colon tumours, we found a novel case with a germline mutation of the p53 gene, from GCC (Ala) to GTC (Val) at codon 189. Of the six primary colon tumours that this patient had, one large advanced carcinoma exhibited a somatic p53 mutation and a somatic APC mutation, in addition to the germline p53 mutation. Two early carcinomas and three adenomas had somatic APC mutations but no somatic p53 mutation or loss of the p53 allele. K-ras-2 mutations were detected in an advanced carcinoma and an early carcinoma. The present results suggest that a patient with a certain type of germline p53 mutation is predisposed to concurrent multiple colon tumours. It is also suggested that in such a patient, a somatic APC mutation is involved in tumour formation and that an additional somatic p53 mutation contributes to tumour progression.
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Registered trials
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