The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome
Open accessAbstract
CONTEXT: Identifying families at high risk for the Lynch syndrome (ie, hereditary nonpolyposis colorectal cancer) is critical for both genetic counseling and cancer prevention. Current clinical guidelines are effective but limited by applicability and cost. OBJECTIVE: To develop and validate a genetic counseling and risk prediction tool that estimates the probability of carrying a deleterious mutation in mismatch repair genes MLH1, MSH2, or MSH6 and the probability of developing colorectal or endometrial cancer. DESIGN, SETTING, AND PATIENTS: External validation of the MMRpro model was conducted on 279 individuals from 226 clinic-based families in the United States, Canada, and Australia (referred between 1993-2005) by comparing model predictions with results of highly sensitive germline mutation detection techniques. MMRpro models the autosomal dominant inheritance of mismatch repair mutations, with parameters based on meta-analyses of the penetrance and prevalence of mutations and of the predictive values of tumor characteristics. The model's prediction is tailored to each individual's detailed family history information on colorectal and endometrial cancer and to tumor characteristics including microsatellite instability. MAIN OUTCOME MEASURE: Ability of MMRpro to correctly predict mutation carrier status, as measured by operating characteristics, calibration, and overall accuracy. RESULTS: In the independent validation, MMRpro provided a concordance index of 0.83 (95% confidence interval, 0.78-0.88) and a ratio of observed to predicted cases of 0.94 (95% confidence interval, 0.84-1.05). This results in higher accuracy than existing alternatives and current clinical guidelines. CONCLUSIONS: MMRpro is a broadly applicable, accurate prediction model that can contribute to current screening and genetic counseling practices in a high-risk population. It is more sensitive and more specific than existing clinical guidelines for identifying individuals who may benefit from MMR germline testing. It is applicable to individuals for whom tumor samples are not available and to individuals in whom germline testing finds no mutation.
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Boland, C. R., Thibodeau, S. N., Hamilton, S. R., Sidransky, D., Eshleman, J. R., Burt, R. W., Meltzer, S. J., Rodrı́guez-Bigas, M. A., Fodde, R., Ranzani, G. N., et al. (1998) · PubMed · Cited by 4,087
Evaluating the Yield of Medical Tests
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Self-citationVASEN, H., WATSON, P., MECKLIN, J., & LYNCH, H. (1999) · Gastroenterology · doi:10.1016/s0016-5085(99)70510-x · Cited by 2,519
Self-citationMutations 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
Self-citationThe 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
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Landon, M., Saam, J., Brown, K. L., Moyes, K., Evans, B., & Wenstrup, R. (2015) · Oncology · doi:10.1159/000430097 · Cited by 1,939
Mutation of a mutL Homolog in Hereditary Colon Cancer
Papadopoulos, N., Nicolaides, N. C., Wei, Y.-F., Ruben, S. M., Carter, K. C., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., et al. (1994) · Science · doi:10.1126/science.8128251 · Cited by 1,834
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Cited by
Microsatellite Instability in Colorectal Cancer-the Stable Evidence
Vilar, E., & Gruber, S. B. (2010) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2009.237 · Cited by 1,063
Self-citationCalculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome
Stoffel, E., Mukherjee, B., Raymond, V. M., Tayob, N., Kastrinos, F., Sparr, J., Wang, F., Bandipalliam, P., Syngal, S., & Gruber, S. B. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.07.039 · Cited by 360
Self-citationAdrenocortical carcinoma is a Lynch syndrome-associated cancer
Raymond, V. M., Everett, J. N., Furtado, L. V., Gustafson, S. L., Jungbluth, C. R., Gruber, S. B., Hammer, G. D., Stoffel, E. M., Greenson, J. K., Giordano, T. J., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.48.0988 · Cited by 208
Self-citationDinh, T. A., Rosner, B. I., Atwood, J. C., Boland, C. R., Syngal, S., Vasen, H. F. A., Gruber, S. B., & Burt, R. W. (2011) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-10-0262 · Cited by 175
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Metadata
- Authors
- Chen, S., Wang, W., Lee, S., Nafa, K., Lee, J., Romans, K., Watson, P., Gruber, S. B., Euhus, D., Kinzler, K. W., Jass, J., Gallinger, S., Lindor, N. M., Casey, G., Ellis, N., Giardiello, F. M., Offit, K., Parmigiani, G., & Colon Cancer Family Registry, F. T.
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2006-09-27
- Volume
- 296
- Issue
- 12
- Pages
- 1479
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W2066833606
- Cited by
- 384
- References
- 57
- FWCI
- 14.58
- Type
- journal article
- Language
- en
- Open access
- green
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- Chen, S., Wang, W., Lee, S., Nafa, K., Lee, J., Romans, K., Watson, P., Gruber, S. B., Euhus, D., Kinzler, K. W., Jass, J., Gallinger, S., Lindor, N. M., Casey, G., Ellis, N., Giardiello, F. M., Offit, K., Parmigiani, G., & Colon Cancer Family Registry, F. T. (2006). Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome. JAMA. https://doi.org/10.1001/jama.296.12.1479
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