Hereditary breast cancer: From molecular pathology to tailored therapies
Open accessAbstract
Hereditary breast cancer accounts for up to 5–10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.
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Ductal Carcinoma In Situ in BRCA Mutation Carriers
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Breast tumor immunophenotype of BRCA1-mutation carriers is influenced by age at diagnosis.
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Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
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Evaluation of RAD50 in familial breast cancer predisposition
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ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers
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Morphology of Breast Cancer as a Means of Triage of Patients for BRCA1 Genetic Testing
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Mutation analysis of five candidate genes in familial breast cancer
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Flagged first, then by citations
Research works printed but not linked: 3
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Cited by
Sorted by citations
Marine Natural Products: A Source of Novel Anticancer Drugs
Khalifa, S. A. M., Elias, N., Farag, M. A., Chen, L., Saeed, A., Hegazy, M.-E. F., Moustafa, M. S., Abd El-Wahed, A., Al-Mousawi, S. M., Musharraf, S. G., et al. (2019) · Marine Drugs · doi:10.3390/md17090491 · Cited by 555 · see citing works
- Authors
- Tan, D. S. P., Marchiò, C., & Reis-Filho, J. S.
- Affiliations
- Institute of Cancer Research (GB)
- Corresponding author
- Reis-Filho, J S
- Venue
- Journal of Clinical Pathology
- Publisher
- BMJ
- Published
- 2008-08-04
- Volume
- 61
- Issue
- 10
- Pages
- 1073-1082
- ISSN
- 0021-9746 (ISSN-L)
- 1472-4146
- OpenAlex
- W2096813414
- Cited by
- 60
- References
- 117
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 3 · 2022: 2 · 2021: 2 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 4 · 2013: 4 · 2012: 4
- FWCI
- 0.78
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Pathology (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- Cancer Research UK
- Associazione Italiana per la Ricerca sul Cancro
- Università degli Studi di Torino
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Breast Lesions and Carcinomas
- Health Sciences › Medicine › Oncology › PARP inhibition in cancer therapy
- Keywords
- hereditary breast cancer, BRCA1, BRCA2, Chk2, ATM, tumor suppressor, hereditary cancer, histopathological features, mutation detection, PARP inhibitors, crosslinking agents, targeted therapy
- MeSH terms
- Breast Neoplasms, DNA Repair, DNA-Binding Proteins, Female, Humans, Protein Serine-Threonine Kinases, Germ-Line Mutation, Cell Cycle Proteins, Genes, BRCA1, Genetic Predisposition to Disease, Genes, BRCA2, Tumor Suppressor Proteins, Ataxia Telangiectasia Mutated Proteins, Checkpoint Kinase 2
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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