The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
Open accessAbstract
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain and intestinal tract tumours. Patients show a variety of non-malignant features that are indicative of CMMRD. However, currently no criteria that should entail diagnostic evaluation of CMMRD exist. We present a three-point scoring system for the suspected diagnosis CMMRD in a paediatric/young adult cancer patient. Tumours highly specific for CMMRD syndrome are assigned three points, malignancies overrepresented in CMMRD two points and all other malignancies one point. According to their specificity for CMMRD and their frequency in the general population, additional features are weighted with 1–2 points. They include multiple hyperpigmented and hypopigmented skin areas, brain malformations, pilomatricomas, a second childhood malignancy, a Lynch syndrome (LS)-associated tumour in a relative and parental consanguinity. According to the scoring system, CMMRD should be suspected in any cancer patient who reaches a minimum of three points by adding the points of the malignancy and the additional features. The diagnostic steps to confirm or refute the suspected diagnosis are outlined. We expect that application of the suggested strategy for CMMRD diagnosis will increase the number of patients being identified at the time when they develop their first tumour. This will allow adjustment of the treatment modalities, offering surveillance strategies for second malignancies and appropriate counselling of the entire family.
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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
Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., Chapelle, A. D. L., Ruschoff, J., Fishel, R., Lindor, N. M., Burgart, L. J., Hamelin, R., et al. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh034 · Cited by 3,183
Self-citationClues to the Pathogenesis of Familial Colorectal Cancer
Aaltonen, L. A., Peltomäki, P., Leach, F. S., Sistonen, P., Pylkkänen, L., Mecklin, J.-P., Järvinen, H., Powell, S. M., Jen, J., Hamilton, S. R., et al. (1993) · Science · doi:10.1126/science.8484121 · Cited by 2,710
Lynch, H. T., & de la Chapelle, A. (2003) · New England Journal of Medicine · doi:10.1056/nejmra012242 · Cited by 2,203
The Molecular Basis of Turcot's Syndrome
Hamilton, S. R., Liu, B., Parsons, R. E., Papadopoulos, N., Jen, J., Powell, S. M., Krush, A. J., Berk, T., Cohen, Z., Tetu, B., et al. (1995) · New England Journal of Medicine · doi:10.1056/nejm199503303321302 · Cited by 1,133
The CORGI Consortium, Palles, C., The WGS500 Consortium, Cazier, J.-B., Howarth, K. M., Domingo, E., Jones, A. M., Broderick, P., Kemp, Z., Spain, S. L., et al. (2013) · Nature Genetics · doi:10.1038/ng.2503 · Cited by 997
Parsons, R. E., Myeroff, L. L., Liu, B., Willson, J. K. V., Markowitz, S. D., Kinzler, K. W., & Vogelstein, B. (1995) · PubMed · Cited by 738
Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer
Peltomäki, P. (2003) · Journal of Clinical Oncology · doi:10.1200/jco.2003.04.060 · Cited by 706
The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations
Senter, L., Clendenning, M., Sotamaa, K., Hampel, H., Green, J., Potter, J. D., Lindblom, A., Lagerstedt, K., Thibodeau, S. N., Lindor, N. M., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2008.04.026 · Cited by 550
Turcot, J., Després, J.-P., & St. Pierre, F. (1959) · Diseases of the Colon & Rectum · doi:10.1007/bf02616938 · Cited by 476
Cited by
Bouffet, E., Larouche, V., Campbell, B. B., Merico, D., de Borja, R., Aronson, M., Durno, C., Krueger, J., Cabric, V., Ramaswamy, V., et al. (2016) · Journal of Clinical Oncology · doi:10.1200/jco.2016.66.6552 · Cited by 857
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer
Latham, A., Srinivasan, P., Kemel, Y., Shia, J., Bandlamudi, C., Mandelker, D., Middha, S., Hechtman, J., Zehir, A., Dubard-Gault, M., et al. (2019) · Journal of Clinical Oncology · doi:10.1200/jco.18.00283 · Cited by 616
Oosterhof, N., Chang, I. J., Karimiani, E. G., Kuil, L. E., Jensen, D. M., Daza, R., Young, E., Astle, L., van der Linde, H. C., Shivaram, G. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.010 · Cited by 247
Randrian, V., Evrard, C., & Tougeron, D. (2021) · Cancers · doi:10.3390/cancers13123063 · Cited by 65
Unraveling resistance to immunotherapy in MSI-high colorectal cancer
Heregger, R., Huemer, F., Steiner, M., Gonzalez-Martinez, A., Greil, R., & Weiss, L. (2023) · Cancers · doi:10.3390/cancers15205090 · Cited by 52
Metadata
- Authors
- Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L., & on behalf of the EU-Consortium Care for CMMRD (C4CMMRD)
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2014-04-15
- Volume
- 51
- Issue
- 6
- Pages
- 355-365
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2098897153
- Cited by
- 485
- References
- 39
- FWCI
- 23.55
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Wimmer, K., Kratz, C. P., Vasen, H. F. A., Caron, O., Colas, C., Entz-Werle, N., Gerdes, A.-M., Goldberg, Y., Ilencikova, D., Muleris, M., Duval, A., Lavoine, N., Ruiz-Ponte, C., Slavc, I., Burkhardt, B., Brugieres, L., & on behalf of the EU-Consortium Care for CMMRD (C4CMMRD). (2014). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD). Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2014-102284
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
