Cited by 477BRCA gene mutations in cancerBreast Lesions and CarcinomasDNA Repair Mechanisms

Ten Genes for Inherited Breast Cancer

Open access
Walsh, Tom, King, Mary-Claire·2007·Cancer Cell

Abstract

Inherited breast cancer is associated with germline mutations in ten different genes in pathways critical to genomic integrity. BRCA1 and BRCA2 mutations confer very high risks of breast and ovarian cancer. p53 and PTEN mutations lead to very high breast cancer risks associated with rare cancer syndromes. Mutations in CHEK2, ATM, NBS1, RAD50, BRIP1, and PALB2 are associated with doubling of breast cancer risks. In addition, biallelic mutations in BRCA2, BRIP1, and PALB2 cause Fanconi anemia. The convergence of these genes in a shared role reveals underlying biology of these illnesses and suggests still other breast cancer genes.

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Crossref · 10.1016/j.ccr.2007.01.010

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  • FANCJ is considered a low-to-moderate penetrance breast cancer susceptibility allele associated with modest two- to threefold increases in breast cancer risk.

    “All together, FANCJ is considered a low-to-moderate penetrance breast cancer susceptibility allele and is associated with modest two- to threefold increases in breast cancer risk [9,54].”

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Authors
Walsh, T., & King, M.-C.
Affiliations
University of Washington (US)
Corresponding author
  • Walsh, Tom
  • King, Mary-Claire
Venue
Cancer Cell
Publisher
Elsevier BV
Published
2007-02
Volume
11
Issue
2
Pages
103-105
ISSN
1535-6108 (ISSN-L)
OpenAlex
W2023353541
Cited by
477
References
15
Citations by year
2026: 3 · 2025: 6 · 2024: 5 · 2023: 9 · 2022: 10 · 2021: 12 · 2020: 21 · 2019: 21 · 2018: 22 · 2017: 20 · 2016: 23 · 2015: 24 · 2014: 38 · 2013: 36 · 2012: 36
FWCI
25.35
Type
journal article
Language
en
Open access
Locations
  • Cancer Cell (publishedVersion)
  • PubMed (publishedVersion)
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords
hereditary breast cancer, germline mutations, BRCA1, BRCA2, p53, PTEN, CHEK2, ATM, NBS1, RAD50, BRIP1, PALB2, Fanconi anemia, genome stability, cancer susceptibility genes, ovarian cancer
MeSH terms
Fanconi Anemia Complementation Group N Protein, Breast Neoplasms, DNA-Binding Proteins, Fanconi Anemia, Humans, Neoplasm Proteins, Nuclear Proteins, Tumor Suppressor Protein p53, Protein Serine-Threonine Kinases, Acid Anhydride Hydrolases, Germ-Line Mutation, Cell Cycle Proteins, BRCA1 Protein, Genetic Predisposition to Disease, RNA Helicases, BRCA2 Protein, Tumor Suppressor Proteins, DNA Repair Enzymes, PTEN Phosphohydrolase, Fanconi Anemia Complementation Group Proteins, Ataxia Telangiectasia Mutated Proteins, Checkpoint Kinase 2

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