Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.S227fs
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TP53

NM_000546.6:p.S227fs

Associated Papers

TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype.

Sun Zhang A et al.

Scientific Reports, 2025

41057495 (PubMed )
Supplement: 41598_2025_22407_MOESM1_ESM.docx

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 families.

Omran M et al.

European Journal of Human Genetics : Ejhg, 2025

39757328 (PubMed )
Supplement: 41431_2024_1753_MOESM1_ESM.xlsx › Table_S5

Pathologic complete response to KEYNOTE522 and HER2-directed therapy for synchronous TNBC and HER2+ breast cancer.

Mai N et al.

Npj Precision Oncology, 2024

Low-burden TP53 mutations represent frequent genetic events in CLL with an increased risk for treatment initiation.

László T et al.

The Journal of Pathology. Clinical Research, 2024

37987115 (PubMed )
Supplement: CJP2-10-e351-s001.xlsx › Table_S2

Functional characterization of novel germline TP53 variants in Swedish families.

Kharaziha P et al.

Clinical Genetics, 2019

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