The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Cancer risk associated with germline DNA mismatch repair gene mutations
Abstract
The autosomal dominant syndrome of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is due to germline DNA mismatch repair gene mutations in most cases. However, the penetrance of such mutations outwith classical HNPCC kindreds is unknown because families studied to date have been specifically selected for research purposes. Using a population-based strategy, we have calculated the lifetime cancer risk associated with germline DNA mismatch repair gene mutations, irrespective of their family history. We identified 67 gene carriers whose risk to age 70 for all cancers was 91% for males and 69% for females. The risk of developing colorectal cancer was significantly greater for males than for females (74% versus 30%, P= 0.006). The risk of uterine cancer (42%) exceeded that for colorectal cancer in females, emphasising the need for uterine screening. Our findings give further insight into the biological effect of defective DNA mismatch repair. We have demonstrated a systematic approach to identifying individuals at high risk of cancer but who may not be part of classical HNPCC families. The risk estimates derived from these analyses provide a rational basis on which to guide genetic counselling and to tailor clinical surveillance.
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Cites
Microsatellite Instability in Cancer of the Proximal Colon
Thibodeau, S. N., Bren, G., & Schaid, D. (1993) · Science · doi:10.1126/science.8484122 · Cited by 3,130
Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D., & Perucho, M. (1993) · Nature · doi:10.1038/363558a0 · Cited by 2,708
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L. A., Nyström-Lahti, M., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90330-s · Cited by 2,276
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
Vasen, H. F. A., Mecklin, J. P., Meera Khan, P., & Lynch, H. T. (1991) · Diseases of the Colon & Rectum · doi:10.1007/bf02053699 · Cited by 2,147
Lynch, H. T., Smyrk, T. C., Watson, P., Lanspa, S. J., Lynch, J. F., Lynch, P. M., Cavalieri, R. J., & Boland, C. R. (1993) · Gastroenterology · doi:10.1016/0016-5085(93)90368-m · Cited by 1,065
Hypermutability and mismatch repair deficiency in RER+ tumor cells
Parsons, R., Li, G.-M., Longley, M. J., Fang, W.-H., Papadopoulos, N., Jen, J., de la Chapelle, A., Kinzler, K. W., Vogelstein, B., & Modrich, P. (1993) · Cell · doi:10.1016/0092-8674(93)90331-j · Cited by 1,053
Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients
Liu, B., Parsons, R., Papadopoulos, N., Nicolaides, N. C., Lynch, H. T., Watson, P., Jass, J. R., Dunlop, M., Wyllie, A., Peltomäki, P., et al. (1996) · Nature Medicine · doi:10.1038/nm0296-169 · Cited by 945
Self-citationVasen, H., Wijnen, J., Menko, F., Kleibeuker, J., Taal, B., Griffioen, G., Nagengast, F., Meijers-Heijboer, E., Bertario, L., Varesco, L., et al. (1996) · Gastroenterology · doi:10.1053/gast.1996.v110.pm8612988 · Cited by 816
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability
Liu, B., Nicolaides, N. C., Markowitz, S., Willson, J. K. V., Parsons, R. E., Jen, J., Papadopolous, N., Peltomäki, P., de la Chapelle, A., Hamilton, S. R., et al. (1995) · Nature Genetics · doi:10.1038/ng0195-48 · Cited by 802
Lothe, R. A., Peltomäki, P., Meling, G., Aaltonen, L. A., Nyström, M., Pylkkänen, L., Heimdal, K., Andersen, T. I., Møller, P., & Rognum, T. O. (1993) · PubMed · Cited by 778
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
Järvinen, H. J., Aarnio, M., Mustonen, H., Aktan–Collan, K., Aaltonen, L. A., Peltomäki, P., Chapelle, A. D. L., & Mecklin, J. (2000) · Gastroenterology · doi:10.1016/s0016-5085(00)70168-5 · Cited by 1,337
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
Vasen, H. F. A., Möslein, G., Alonso, A., Bernstein, I., Bertario, L., Blanco, I., Burn, J., Capella, G., Engel, C., Frayling, I., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.048991 · Cited by 554
Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer
Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., Campbell, H., & Dunlop, M. G. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa053493 · Cited by 477
Self-citationBuermeyer, A. B., Deschênes, S. M., Baker, S. M., & Liskay, R. M. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.533 · Cited by 451
Metadata
- Authors
- Dunlop, M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-01-01
- Volume
- 6
- Issue
- 1
- Pages
- 105-110
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2159032347
- Cited by
- 688
- References
- 23
- FWCI
- 21.03
- Type
- journal article
- Language
- en
- Open access
- closed
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