The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service
Abstract
Autosomal dominantly inherited tumor‐prone syndromes are a substantial health problem and are amenable to epidemiologic studies by combining cancer surveillance registries with a genetic register (GR)‐based approach. Knowledge of the frequency of the conditions provides a basis for appropriate health‐resources allocations. GRs for five tumor‐prone syndromes were established in the Manchester region of North West England in 1989 and 1990. Mapping birth dates of affected individuals from families onto regional birth rates has allowed an estimate of birth incidence, disease prevalence, and de novo mutation rates. Disease prevalence in order of frequency were for neurofibromatosis type 1 (NF1): 1 in 4,560; familial adenomatous polyposis (FAP): 1 in 18,976; nevoid basal cell carcinoma [Gorlin syndrome (GS)]: 1 in 30,827; neurofibromatosis type 2 (NF2) 1 in 56,161; and von Hippel Lindau (VHL) 1 in 91,111. Best estimates for birth incidence were: 1 in 2,699; 1 in 8,619; 1 in 14,963, 1 in 33,000; and 1 in 42,987, respectively. The proportions due to de novo mutation were: 42% (NF1); 16% (FAP); 26% (GS); 56% (NF2); and 21% (VHL). Estimates for NF1, NF2, FAP, and VHL are in line with previous estimates, and we provide the first estimates of birth incidence and de novo mutation rate for GS. © 2010 Wiley‐Liss, Inc.
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Neurofibromatosis: Conference Statement
(1988) · Archives of Neurology · doi:10.1001/archneur.1988.00520290115023 · Cited by 1,547
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
Evans, D. G. R., Baser, M. E., McGaughran, J., Sharif, S., Howard, E., & Moran, A. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.5.311 · Cited by 1,282
Self-citationNeurofibromatosis. Conference statement, National Institute of Health development conference
Stumpf, D. A. (1988) · JAMA Neurology · Cited by 1,236
Guidelines for the clinical management of familial adenomatous polyposis (FAP)
Vasen, H. F. A., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., Blanco, I., Bülow, S., Burn, J., Capella, G., et al. (2008) · Gut · doi:10.1136/gut.2007.136127 · Cited by 704
A Clinical Study of Type 2 Neurofibromatosis
(1992) · QJM: An International Journal of Medicine · doi:10.1093/oxfordjournals.qjmed.a068699 · Cited by 634
Von Hippel-Lindau disease: a genetic study.
Maher, E. R., Iselius, L., Yates, J. R., Littler, M., Benjamin, C., Harris, R., Sampson, J., Williams, A., Ferguson-Smith, M. A., & Morton, N. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.7.443 · Cited by 595
Huson, S. M., Compston, D. A., Clark, P., & Harper, P. S. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.11.704 · Cited by 540
Self-citationFamilial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
Bisgaard, M. L., Fenger, K., Bülow, S., Niebuhr, E., & Mohr, J. (1994) · Human Mutation · doi:10.1002/humu.1380030206 · Cited by 490
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype
Brems, H., Chmara, M., Sahbatou, M., Denayer, E., Taniguchi, K., Kato, R., Somers, R., Messiaen, L., De Schepper, S., Fryns, J.-P., et al. (2007) · Nature Genetics · doi:10.1038/ng2113 · Cited by 472
Evans, D. G., Huson, S. M., Donnai, D., Neary, W., Blair, V, Teare, D., Newton, V, Strachan, T., Ramsden, R., & Harris, R. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.12.841 · Cited by 468
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A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
Howell, K. B., Eggers, S., Dalziel, K., Riseley, J., Mandelstam, S., Myers, C. T., McMahon, J. M., Schneider, A., Carvill, G. L., Mefford, H. C., et al. (2018) · Epilepsia · doi:10.1111/epi.14087 · Cited by 114
Billiet, T., Mädler, B., D'Arco, F., Peeters, R., Deprez, S., Plasschaert, E., Leemans, A., Zhang, H., den Bergh, B. V., Vandenbulcke, M., et al. (2014) · NeuroImage: Clinical · doi:10.1016/j.nicl.2014.04.005 · Cited by 101
RAS and beyond: the many faces of the neurofibromatosis type 1 protein
Anastasaki, C., Orozco, P., & Gutmann, D. H. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049362 · Cited by 86
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts
Dunnett-Kane, V., Burkitt-Wright, E., Blackhall, F. H., Malliri, A., Evans, D. G., & Lindsay, C. R. (2020) · Annals of Oncology · doi:10.1016/j.annonc.2020.03.291 · Cited by 66
Self-citationToyokuni, S., Kong, Y., Cheng, Z., Sato, K., Hayashi, S., Ito, F., Jiang, L., Yanatori, I., Okazaki, Y., & Akatsuka, S. (2020) · Cancers · doi:10.3390/cancers12113320 · Cited by 33
Metadata
- Authors
- Evans, D. G., Howard, E., Giblin, C., Clancy, T., Spencer, H., Huson, S. M., & Lalloo, F.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-01-15
- Volume
- 152A
- Issue
- 2
- Pages
- 327-332
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1974290681
- Cited by
- 988
- References
- 32
- FWCI
- 17.69
- Type
- journal article
- Language
- en
- Open access
- closed
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