The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Ten Genes for Inherited Breast Cancer
Open accessAbstract
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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“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].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [54]
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Cites
Biallelic Inactivation of BRCA2 in Fanconi Anemia
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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
Essential role for nuclear PTEN in maintaining chromosomal integrity
Shen, W. H., Balajee, A. S., Wang, J., Wu, H., Eng, C., Pandolfi, P. P., & Yin, Y. (2007) · Cell · doi:10.1016/j.cell.2006.11.042 · Cited by 979
Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J., & Livingston, D. M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.05.022 · Cited by 861
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
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Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer
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Self-citationBiallelic 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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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
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Molecular pathogenesis of Fanconi anemia: recent progress
Taniguchi, T., & D’Andrea, A. D. (2006) · Blood · doi:10.1182/blood-2005-10-4240 · Cited by 390
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability
Heikkinen, K. (2005) · Carcinogenesis · doi:10.1093/carcin/bgi360 · Cited by 208
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Flagged first, then by citations
Research works printed but not linked: 4
- Erkko, 2007, Nature
- Rahman, 2006, Nat. Genet.
- Reid, 2006, Nat. Genet.
- Xia, 2006, Nat. Genet.
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Genetic Heterogeneity in Human Disease
McClellan, J., & King, M.-C. (2010) · Cell · doi:10.1016/j.cell.2010.03.032 · Cited by 981
Self-citationGoldhirsch, A., Wood, W. C., Gelber, R. D., Coates, A. S., Thurlimann, B. J. K., & Senn, H.-J. (2007) · Annals of Oncology · doi:10.1093/annonc/mdm271 · Cited by 932
Repair of Strand Breaks by Homologous RecombinationPreprint
Jasin, M., & Rothstein, R. J. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012740 · Cited by 929
Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., et al. (2010) · Nature Genetics · doi:10.1038/ng.569 · Cited by 743
Metadata
- 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
- bronze
- doi.org
- Licence
- 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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