MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers

Bandeira, Isabel Cristina; Vieira, Igor Araújo; Andreis, Tiago Finger; Reis, Larissa Brussa; Macedo, Gabriel S.; Vianna, Fernanda Sales Luiz; Santos-Silva, Patricia; Palmero, Edenir Inêz; Galvão, Henrique de Campos Reis; Ramos, Cíntia Regina Niederauer; Santiago, Karina Miranda; Achatz, Maria Isabel; Costa, Alexandre André Balieiro Anastácio da; Ashton‐Prolla, Patrícia

doi:10.1016/j.cancergen.2019.11.005

Cited by 6 publications

(2 citation statements)

References 21 publications

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“…In a large study of 195 LFS patients, this haplotype was shown to influence cancer onset with tumors occurring 5 years earlier [ 73 ]. Other genetic factors have been reported as potential modifiers of the LFS phenotype, such as an SNP within the hsa-miR-605 (rs2043556) [ 74 , 75 ].…”

Section: Mutational Landscape Of Tp53 In Lfsmentioning

confidence: 99%

“…Exploring an LFS cohort of 238 Brazilian individuals carrying TP53 p.R337H, miR-605 rs2043556 G allele was present in 57.1% of patients where 10.5% were homozygous [ 75 ]. Interestingly, in this cohort of LFS patients, the presence of miR-605 rs2043556 was significantly associated with the onset of multiple primary tumors [ 75 ].…”

Section: Role Of Non-coding Rnas In Lfs: Novel Mechanisms and Hypothesismentioning

confidence: 99%

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Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

Rocca

Blandino

D’Antona

et al. 2022

Cancers

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Li–Fraumeni syndrome (LFS) is a rare familial tumor predisposition syndrome with autosomal dominant inheritance, involving germline mutations of the TP53 tumor suppressor gene. The most frequent tumors that arise in patients under the age of 45 are osteosarcomas, soft-tissue sarcomas, breast tumors in young women, leukemias/lymphomas, brain tumors, and tumors of the adrenal cortex. To date, no other gene mutations have been associated with LFS. The diagnosis is usually confirmed by genetic testing for the identification of TP53 mutations; therefore, these mutations are considered the biomarkers associated with the tumor spectrum of LFS. Here, we aim to review novel molecular mechanisms involved in the oncogenic functions of mutant p53 in LFS and to discuss recent new diagnostic and therapeutic approaches exploiting TP53 mutations as biomarkers and druggable targets.

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Section: Mutational Landscape Of Tp53 In Lfsmentioning

confidence: 99%

Section: Role Of Non-coding Rnas In Lfs: Novel Mechanisms and Hypothesismentioning

confidence: 99%

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

Rocca

Blandino

D’Antona

et al. 2022

Cancers

View full text Add to dashboard Cite

show abstract

Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?

Vieira,

Pezzi,

Bandeira

et al. 2024

Gene

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AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study

Figueiredo,

Dupont,

Portelli

et al. 2024

The Lancet Regional Health - Americas

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MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers

Cited by 6 publications

References 21 publications

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment

Functional pri-miR-34b/c rs4938723 and KRAS 3′UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?

AI-guided identification of risk variants for adrenocortical tumours in TP53 p.R337H carrier children: a genetic association study

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