The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
Open accessAbstract
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by standard diagnostic analysis. To determine the incidence of copy number variants in cancer predisposition genes from families in the Wessex region, we have analysed the hMLH1 and hMSH2 genes in patients with hereditary nonpolyposis colorectal cancer (HNPCC), BRCA1 and BRCA2 in families with hereditary breast/ovarian cancer (BRCA) and APC in patients with familial adenomatous polyposis coli (FAP). Hereditary nonpolyposis colorectal cancer (n=162) and FAP (n=74) probands were fully screened for small mutations, and cases for which no causative abnormality were found (HNPCC, n=122; FAP, n=24) were screened by MLPA. Complete or partial gene deletions were identified in seven cases for hMSH2 (5.7% of mutation-negative HNPCC; 4.3% of all HNPCC), no cases for hMLH1 and six cases for APC (25% of mutation negative FAP; 8% of all FAP). For BRCA1 and BRCA2, a partial mutation screen was performed and 136 mutation-negative cases were selected for MLPA. Five deletions and one duplication were found for BRCA1 (4.4% of mutation-negative BRCA cases) and one deletion for BRCA2 (0.7% of mutation-negative BRCA cases). Cost analysis indicates it is marginally more cost effective to perform MLPA prior to point mutation screening, but the main advantage gained by prescreening is a greatly reduced reporting time for the patients who are positive. These data demonstrate that dosage analysis is an essential component of genetic screening for cancer predisposition genes.
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Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,699
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
Petrij-Bosch, A., Peelen, T., van Vliet, M., Eijk, R. V., Olmer, R., Drüsedau, M., Hogervorst, F. B. L., Hageman, S., Arts, P. J. W., Ligtenberg, M. J. L., et al. (1997) · Nature Genetics · doi:10.1038/ng1197-341 · Cited by 432
Hogervorst, F. B. L., Nederlof, P. M., Gille, J. J. P., McElgunn, C. J., Grippeling, M., Pruntel, R., Regnerus, R., van Welsem, T., van Spaendonk, R., Menko, F. H., et al. (2003) · PubMed · Cited by 314
Evans, D. G. R., Eccles, D. M., Rahman, N., Young, K., Bulman, M., Amir, E., Shenton, A., Howell, A., & Lalloo, F. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.017996 · Cited by 265
Self-citationMontagna, M. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg120 · Cited by 183
Sieber, O. M., Lamlum, H., Crabtree, M., Rowan, A., Barclay, E., Lipton, L. R., Hodgson, S. V., Thomas, H. J. W., Neale, K. F., Phillips, R. K. S., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.042699199 · Cited by 137
Charbonnier, F., Olschwang, S., Wang, Q., Boisson, C., Martin, C., Buisine, M., Puisieux, A., & Frébourg, T. (2002) · PubMed · Cited by 124
Wang, Y., Friedl, W., Lamberti, C., Jungck, M., Mathiak, M., Pagenstecher, C., Propping, P., & Mangold, E. (2002) · International Journal of Cancer · doi:10.1002/ijc.10869 · Cited by 105
Nakagawa, H., Hampel, H., & de la Chapelle, A. (2003) · Human Mutation · doi:10.1002/humu.9171 · Cited by 97
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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
Jones, A. V. (2005) · Blood · doi:10.1182/blood-2005-03-1320 · Cited by 843
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462
Identification of molecular apocrine breast tumours by microarray analysis
Farmer, P., Bonnefoi, H., Becette, V, Tubiana-Hulin, M., Fumoleau, P., Larsimont, D., MacGrogan, G., Bergh, J., Cameron, D., Goldstein, D., et al. (2005) · Breast Cancer Research · doi:10.1186/bcr1122 · Cited by 307
Metadata
- Authors
- Bunyan, D. J., Eccles, D. M., Sillibourne, J., Wilkins, E., Thomas, N. S., Shea-Simonds, J., Duncan, P. J., Curtis, C. E., Robinson, D. O., Harvey, J. F., & Cross, N. C. P.
- Venue
- British Journal of Cancer
- Published
- 2004-09
- Volume
- 91
- Issue
- 6
- Pages
- 1155-1159
- ISSN
- 0007-0920 (ISSN-L)
- 1532-1827
- OpenAlex
- W2116372322
- Cited by
- 264
- References
- 9
- FWCI
- 26.84
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Bunyan, D. J., Eccles, D. M., Sillibourne, J., Wilkins, E., Thomas, N. S., Shea-Simonds, J., Duncan, P. J., Curtis, C. E., Robinson, D. O., Harvey, J. F., & Cross, N. C. P. (2004). Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. British Journal of Cancer. https://doi.org/10.1038/sj.bjc.6602121
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