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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 …
20% of hereditary breast cancers are attributable to pathogenic variants in the highly …
Beyond BRCA: new hereditary breast cancer susceptibility genes
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 …
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 …
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 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) …
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 …
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 …
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 …
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 …
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
Cancers cause significant mortality and morbidity in adolescents and young adults (AYAs),
but their biological underpinnings are incompletely understood. Here, we analyze clinical …
but their biological underpinnings are incompletely understood. Here, we analyze clinical …