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

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Ten Genes for Inherited Breast Cancer

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

DOI 10.1016/j.ccr.2007.01.010

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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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Biallelic Inactivation of BRCA2 in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149
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The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026
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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
Renwick, A., Thompson, D. J., Seal, S., Kelly, P. F., Chagtai, T., Ahmed, M., North, B. V., Jayatilake, H., Barfoot, R., Spanova, K., et al. (2006) · Nature Genetics · doi:10.1038/ng1837 · Cited by 770
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746
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Self-citation
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1947 · Cited by 642
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Erkko, H., Xia, B., Nikkilä, J., Schleutker, J., Syrjäkoski, K., Mannermaa, A., Kallioniemi, A. H., Pylkäs, K., Karppinen, S., Rapakko, K., et al. (2007) · Nature · doi:10.1038/nature05609 · Cited by 471

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Authors: Walsh, T., & King, M.-C.
Affiliations: University of Washington (US)
Corresponding author: Walsh, Tom
King, Mary-Claire
ORCID: 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)
DOI: 10.1016/j.ccr.2007.01.010
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: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2358 d)
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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Ten Genes for Inherited Breast Cancer

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