Hereditary breast cancer: Syndromes, tumour pathology and molecular testing

A Sokolova, KJ Johnstone, AE McCart Reed… - …, 2023 - Wiley Online Library
Hereditary factors account for a significant proportion of breast cancer risk. Approximately
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …

Beyond BRCA: new hereditary breast cancer susceptibility genes

P Economopoulou, G Dimitriadis, A Psyrri - Cancer treatment reviews, 2015 - Elsevier
Abstract Approximately 5–10% of breast cancer cases might be inheritable, up to 30% of
which are due to BRCA1/2 mutations. During the past few years and thanks to technology …

Genetic/familial high-risk assessment: breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology

MB Daly, T Pal, MP Berry, SS Buys, P Dickson… - Journal of the National …, 2021 - jnccn.org
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and
Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants …

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

G Bougeard, M Renaux-Petel, JM Flaman… - Journal of Clinical …, 2015 - ascopubs.org
Purpose The aim of the study was to update the description of Li-Fraumeni syndrome (LFS),
a remarkable cancer predisposition characterized by extensive clinical heterogeneity …

A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

SS Buys, JF Sandbach, A Gammon, G Patel, J Kidd… - Cancer, 2017 - Wiley Online Library
BACKGROUND As panel testing becomes more common in clinical practice, it is important
to understand the prevalence and trends associated with the pathogenic variants (PVs) …

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 …

Depletion of a putatively druggable class of phosphatidylinositol kinases inhibits growth of p53-null tumors

BM Emerling, JB Hurov, G Poulogiannis… - Cell, 2013 - cell.com
Here, we show that a subset of breast cancers express high levels of the type 2
phosphatidylinositol-5-phosphate 4-kinases α and/or β (PI5P4Kα and β) and provide …

[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 …

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 …

Genomic disparities between cancers in adolescent and young adults and in older adults

X Wang, AM Langevin, PJ Houghton… - Nature communications, 2022 - nature.com
Cancers cause significant mortality and morbidity in adolescents and young adults (AYAs),
but their biological underpinnings are incompletely understood. Here, we analyze clinical …