The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary
Open accessAbstract
Background: In BRCA2 mutation carriers, increased risks have been reported for several cancer sites besides breast and ovary. As most of the families included in earlier reports were selected on the basis of multiple breast/ovarian cancer cases, it is possible that risk estimates may differ in mutation carriers with a less striking family history. Methods: In the Netherlands, 139 BRCA2 families with 66 different pathogenic mutations were included in a nationwide study. To avoid testing bias, we chose not to estimate risk in typed carriers, but rather in male and female family members with a 50% prior probability of being a carrier (n = 1811). The relative risk (RR) for each cancer site with the exception of breast and ovarian cancer was determined by comparing observed numbers with those expected, based on Dutch cancer incidence rates. Results: We observed an excess risk for four cancer sites: pancreas (RR 5.9; 95% confidence interval (CI) 3.2 to 10.0), prostate (2.5; 1.6 to 3.8), bone (14.4; 2.9 to 42.1) and pharynx (7.3; 2.0 to 18.6). A small increase was observed for cancer of the digestive tract (1.5; 1.1 to 1.9). Histological verification was available for 46% of the tumours. Nearly all increased risks reached statistical significance for men only. Cancer risks tended to be higher for people before the age of 65 years. Moreover, families with mutations outside the previously defined ovarian cancer cluster region tended to have a higher cancer risk. Conclusions: We found that BRCA2 carriers are at increased risk for cancers of the prostate and pancreas, and possibly bone and pharynx. Larger databases with extended follow up are needed to provide insight into mutation specific risks of selected carriers in BRCA2 families.
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Cites
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Cited by
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
Sakai, W., Swisher, E. M., Karlan, B. Y., Agarwal, M. K., Higgins, J., Friedman, C., Villegas, E., Jacquemont, C., Farrugia, D. J., Couch, F. J., et al. (2008) · Nature · doi:10.1038/nature06633 · Cited by 1,086
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
Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J.-W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., et al. (2013) · Gut · doi:10.1136/gutjnl-2012-303108 · Cited by 784
Frequent detection of pancreatic lesions in asymptomatic high-risk individuals
Canto, M. I., Hruban, R. H., Fishman, E. K., Kamel, I. R., Schulick, R., Zhang, Z., Topazian, M., Takahashi, N., Fletcher, J., Petersen, G., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2012.01.005 · Cited by 648
Metadata
- Authors
- van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F. A., Ausems, M. G. E. M., Menko, F. H., Gomez Garcia, E. B., Klijn, J. G. M., Hogervorst, F. B. L., van Houwelingen, J. C., van’t Veer, L. J., Rookus, M. A., & van Leeuwen, F. E.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09
- Volume
- 42
- Issue
- 9
- Pages
- 711-719
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2130414070
- Cited by
- 420
- References
- 37
- FWCI
- 8.40
- Type
- journal article
- Language
- en
- Open access
- bronze
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- van Asperen, C. J., Brohet, R. M., Meijers-Heijboer, E. J., Hoogerbrugge, N., Verhoef, S., Vasen, H. F. A., Ausems, M. G. E. M., Menko, F. H., Gomez Garcia, E. B., Klijn, J. G. M., Hogervorst, F. B. L., van Houwelingen, J. C., van’t Veer, L. J., Rookus, M. A., & van Leeuwen, F. E. (2005). Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2004.028829
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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