Cited by 60BRCA gene mutations in cancerBreast Lesions and CarcinomasPARP inhibition in cancer therapy

Hereditary breast cancer: From molecular pathology to tailored therapies

Open access
Tan, D S P, Marchiò, C, Reis-Filho, J S·2008·Journal of Clinical Pathology

Abstract

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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Crossref · 10.1136/jcp.2008.057950

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Research works printed but not linked: 3

  1. Carlomagno F, Chang-Claude J, Dunning AM, et al. Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. Genes Chromosomes Cancer 1999;25:393-5.
  2. Marcus JN, Watson P, Page DL, et al. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 1996;77:697-709.
  3. Armes JE, Egan AJ, Southey MC, et al. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study. Cancer 1998;83:2335-45.

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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
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

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