The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Breast-Cancer Risk in Families with Mutations in PALB2
Open accessAbstract
BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifetime risk of breast cancer that is conferred by such mutations remains unknown. METHODS: We analyzed the risk of breast cancer among 362 members of 154 families who had deleterious truncating, splice, or deletion mutations in PALB2. The age-specific breast-cancer risk for mutation carriers was estimated with the use of a modified segregation-analysis approach that allowed for the effects of PALB2 genotype and residual familial aggregation. RESULTS: The risk of breast cancer for female PALB2 mutation carriers, as compared with the general population, was eight to nine times as high among those younger than 40 years of age, six to eight times as high among those 40 to 60 years of age, and five times as high among those older than 60 years of age. The estimated cumulative risk of breast cancer among female mutation carriers was 14% (95% confidence interval [CI], 9 to 20) by 50 years of age and 35% (95% CI, 26 to 46) by 70 years of age. Breast-cancer risk was also significantly influenced by birth cohort (P<0.001) and by other familial factors (P=0.04). The absolute breast-cancer risk for PALB2 female mutation carriers by 70 years of age ranged from 33% (95% CI, 25 to 44) for those with no family history of breast cancer to 58% (95% CI, 50 to 66) for those with two or more first-degree relatives with breast cancer at 50 years of age. CONCLUSIONS: Loss-of-function mutations in PALB2 are an important cause of hereditary breast cancer, with respect both to the frequency of cancer-predisposing mutations and to the risk associated with them. Our data suggest the breast-cancer risk for PALB2 mutation carriers may overlap with that for BRCA2 mutation carriers. (Funded by the European Research Council and others.).
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Cites
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Self-citationBreast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
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Self-citationPALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
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Self-citationPolygenic susceptibility to breast cancer and implications for prevention
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Self-citationControl of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
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Self-citationExomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene
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ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
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Self-citationPrograms for pedigree analysis: Mendel, Fisher, and dGene
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Cited by
Loibl, S., Poortmans, P., Morrow, M., Denkert, C., & Curigliano, G. (2021) · The Lancet · doi:10.1016/s0140-6736(20)32381-3 · Cited by 1,648
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869
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Self-citationPopulation dynamics of normal human blood inferred from somatic mutations
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Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature · doi:10.1038/s41586-020-2853-0 · Cited by 561
Metadata
- Authors
- Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., De Leeneer, K., Fostira, F., Tomiak, E., Neuhausen, S. L., Teo, Z. L., Khan, S., Aittomäki, K., Moilanen, J. S., Turnbull, C., Seal, S., Mannermaa, A., Kallioniemi, A., Lindeman, G. J., Buys, S. S., Andrulis, I. L., Radice, P., Tondini, C., Manoukian, S., Toland, A. E., Miron, P., Weitzel, J. N., Domchek, S. M., Poppe, B., Claes, K. B. M., Yannoukakos, D., Concannon, P., Bernstein, J. L., James, P. A., Easton, D. F., Goldgar, D. E., Hopper, J. L., Rahman, N., Peterlongo, P., Nevanlinna, H., King, M.-C., Couch, F. J., Southey, M. C., Winqvist, R., Foulkes, W. D., & Tischkowitz, M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2014-08-07
- Volume
- 371
- Issue
- 6
- Pages
- 497-506
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2194014097
- Cited by
- 851
- References
- 36
- FWCI
- 57.85
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., De Leeneer, K., Fostira, F., Tomiak, E., Neuhausen, S. L., Teo, Z. L., Khan, S., Aittomäki, K., Moilanen, J. S., Turnbull, C., Seal, S., Mannermaa, A., . . . Tischkowitz, M. (2014). Breast-Cancer Risk in Families with Mutations in PALB2. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1400382
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