The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
Abstract
We aimed to assess frequency and penetrance of BRCA1, BRCA2,and TP53 mutations in women diagnosed with breast cancer aged 30 years or younger, and then correlate this frequency with family history. 17 of 36 familial cases had a BRCA1, BRCA2, or TP53 mutation, compared with three of 63 non-familial cases. The calculated population frequency of TP53 mutations was one in 5000, substantially greater than previous estimates. This finding underlines the importance of accurate elucidation of a family history from young women diagnosed with breast cancer. Establishment of family history could help with development of patient-specific management and tumour surveillance protocols.
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“Lalloo et al (2003, 2006) reported on the frequency and penetrance of BRCA1/2 and TP53 mutations in early-onset breast cancer in earlier papers. These papers showed a predominance of BRCA1/2 mutations in familial aggregations of breast cancer, with penetrance estimates of breast cancer as high as 80–90% by 70 years of age.”
From Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status (2010) · cites this paper as Lalloo et al, 2003
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Cites
Ford, D., Easton, D., Stratton, M. R., Narod, S., Goldgar, D., Devilee, P., Bishop, D., Weber, B., Lenoir, G., Chang-Claude, J., et al. (1998) · American Journal of Human Genetics · doi:10.1086/301749 · Cited by 2,766
Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
Easton, D. F., Ford, D., & Bishop, D. T. (1995) · PubMed Central · Cited by 1,602
Anglian Breast Cancer Study Group (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1407 · Cited by 602
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
Birch, Hartley, Tricker, Prosser, P., Condie, Kelsey, Harris, Jones, Binchy, Crowther, et al. (1994) · Cancer Research · Cited by 475
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
Birch, J. M., Hartley, A. L., Tricker, K. J., Prosser, J., Condie, A., Kelsey, A. M., Harris, M., Jones, P. H. M., Binchy, A., & Crowther, D. (1994) · PubMed · Cited by 421
Breast and ovarian cancer incidence in BRCA1-mutation carriers
Easton, D., Ford, D., Bishop, D., Haites, N., Milner, B., Allan, L., Ponder, B., Peto, J., Smith, S., Ford, D., et al. (1995) · UCL Discovery (University College London) · Cited by 301
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Hereditary cancer syndromes linked to oxidative phosphorylation insufficiency
Kaplan, B., Duraj, T., Lee, D. C., & Seyfried, T. N. (2025) · ONCOLOGIE · doi:10.1515/oncologie-2025-0301
Recent advances in the understanding of TP53 in haematological malignancies
Ng, J. Y., & Talaulikar, D. (2026) · Pathology · doi:10.1016/j.pathol.2026.03.014
Metadata
- Authors
- Lalloo, F., Varley, J., Ellis, D., Moran, A., O'Dair, L., Pharoah, P., & Evans, D. G. R.
- Affiliations
- St Mary's Hospital (GB)
- Cancer Research UK Manchester Institute (GB)
- Guy's Hospital (GB)
- University of Manchester (GB)
- University of Cambridge (GB)
- Corresponding author
- Lalloo, Fiona
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2003-03
- Volume
- 361
- Issue
- 9363
- Pages
- 1101-1102
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2089797982
- Cited by
- 202
- References
- 6
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 9 · 2022: 9 · 2021: 10 · 2020: 10 · 2019: 14 · 2018: 16 · 2017: 14 · 2016: 4 · 2015: 12 · 2014: 7 · 2013: 8 · 2012: 13
- FWCI
- 3.89
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- 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 › Epidemiology › Multiple and Secondary Primary Cancers
- Keywords
- early-onset breast cancer, BRCA1 mutation, BRCA2 mutation, TP53 mutation, pathogenic variants, family history (medicine), mutation frequency, mutation penetrance, hereditary breast cancer, tumor surveillance
- MeSH terms
- Adult, Age Factors, Breast Neoplasms, DNA Mutational Analysis, Female, Gene Frequency, Genetic Testing, Humans, Tumor Suppressor Protein p53, Risk Assessment, BRCA1 Protein, Penetrance, Genetic Predisposition to Disease, BRCA2 Protein
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