TP53 c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma

Article Genetics & Heredity

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

D. Gareth Evans et al.

Summary: The study shows that the rates of BRCA1, BRCA2, and TP53 PVs are high in very early onset breast cancer cases. Testing of additional breast cancer-associated genes did not provide significant benefits. BRCA1/2 PVs were more common in women aged 26-30 years compared to younger women, and the younger age group had rates similar to other study cohorts.

JOURNAL OF MEDICAL GENETICS (2022)

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Article Oncology

Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers

Renata Lazari Sandoval et al.

Summary: The phenotype of breast cancer in Brazilian female carriers of Li-Fraumeni syndrome, particularly those with the TP53 p.R337H variant, is similar to that of carriers with other TP53 pathogenic variants. The age at onset of the disease is older than the general population but still relatively young compared to other breast cancer cases.

FRONTIERS IN ONCOLOGY (2022)

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Article Genetics & Heredity

UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants

Helen Hanson et al.

Summary: Constitutional pathogenic variants in TP53 are associated with high-risk cancer syndromes, requiring more intensive surveillance, including whole-body MRI and breast MRI.

JOURNAL OF MEDICAL GENETICS (2021)

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Article Oncology

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set An International Agency for Research on Cancer TP53 Database Analysis

Christian P. Kratz et al.

Summary: The study defines and classifies the phenotypic spectrum of Li-Fraumeni syndrome, providing insights into variant distribution and cancer characteristics in patients meeting different testing criteria. The new classification, Li-Fraumeni spectrum, may help understand phenotypic differences in cancer predisposition syndromes and serve as a model for further studies.

JAMA ONCOLOGY (2021)

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Article Biochemistry & Molecular Biology