[HTML][HTML] Germline TP53 pathogenic variants and breast cancer: A narrative review

E Blondeaux, L Arecco, K Punie, R Graffeo… - Cancer treatment …, 2023 - Elsevier
Approximately 10% of breast cancers are associated with the inheritance of a pathogenic
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …

[HTML][HTML] Germline TP53 Testing in Breast Cancers: Why, When and How?

DG Evans, ER Woodward, S Bajalica-Lagercrantz… - Cancers, 2020 - mdpi.com
Simple Summary TP53 variants detected in blood represent a main genetic cause of breast
cancers occurring before 31 years of age. TP53 being included in most of the cancer gene …

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome

C Fortuno, PA James, AB Spurdle - Human mutation, 2018 - Wiley Online Library
Pathogenic germline variants in TP53 predispose carriers to the multi‐cancer Li‐Fraumeni
syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic …

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer …

K Packwood, G Martland, M Sommerlad… - The Journal of …, 2019 - Wiley Online Library
Germline TP53 pathogenic variants are rare but associated with a high risk of cancer; they
are often identified in the context of clinically diagnosed Li–Fraumeni syndrome …

[HTML][HTML] Clinical implications of germline mutations in breast cancer: TP53

K Schon, M Tischkowitz - Breast cancer research and treatment, 2018 - Springer
Purpose This review describes the prevalence of germline TP53 mutations, the risk of breast
cancer and other cancers in mutation carriers and management implications for women with …

Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

S Masciari, DA Dillon, M Rath, M Robson… - Breast cancer research …, 2012 - Springer
Breast cancer is the most common tumor in women with Li-Fraumeni Syndrome (LFS), an
inherited cancer syndrome associated with germline mutations in the TP53 tumor …

[HTML][HTML] Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients

A Kwong, VY Shin, CYS Ho, CH Au, TP Slavin… - BMC cancer, 2020 - Springer
Background Germline TP53 mutations are associated with Li-Fraumeni syndrome, a severe
and rare hereditary cancer syndrome. Despite the rarity of germline TP53 mutations, the …

Prevalence and clinical impact of TP53 germline mutations in Chinese women with breast cancer

S Sheng, Y Xu, Y Guo, L Yao, L Hu… - … journal of cancer, 2020 - Wiley Online Library
The prevalence and clinical relevance of TP53 germline mutations in a large unselected
breast cancer series are largely unknown. Here, we determined TP53 germline mutations in …

Early onset HER2‐positive breast cancer is associated with germline TP53 mutations

A Melhem‐Bertrandt, J Bojadzieva, KJ Ready… - Cancer, 2012 - Wiley Online Library
BACKGROUND: Germline TP53 mutations predispose to early onset breast cancer in
women and are associated with Li‐Fraumeni syndrome. Published data on the pathological …

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome

EI Palmero, MIW Achatz, P Ashton-Prolla… - Current opinion in …, 2010 - journals.lww.com
Germline TP53 mutations may be responsible for a large fraction (15–20%) of all inherited
cancers. Although mutations are detectable by sequencing, counseling and follow-up …