| 1. |
- Thompson, B.A., et al.
(författare)
-
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
-
Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
|
|
| 2. |
- Boffano, P., et al.
(författare)
-
The epidemiology and management of ameloblastomas: A European multicenter study
- 2021
-
Ingår i: Journal of Cranio-Maxillofacial Surgery. - : Elsevier BV. - 1010-5182. ; 49:12, s. 1107-1112
-
Tidskriftsartikel (refereegranskat)abstract
- The present study aimed at assessing the epidemiology including demographic variables, diagnostic features, and management of ameloblastomas at several European departments of maxillofacial and oral surgery. The following data were recorded for each patient: gender, age, voluptuary habits, comorbidities, site, size, radiographic features, type, histopathological features, kind of treatment, length of hospital stay, complications, recurrence, management and complications of the recurrence. A total of 244 patients, 134 males and 110 females with ameloblastomas were included in the study. Mean age was 47.4 years. In all, 81% of lesions were found in the mandible, whereas 19% were found in the maxilla. Mean size of included ameloblastomas was 38.9 mm. The most frequently performed treatment option was enucleation plus curettage/peripheral ostectomy in 94 ameloblastomas, followed by segmental resection (60 patients), simple enucleation (46 patients), and marginal resection (40 pa-tients). A recurrence (with a mean follow up of 5 years) was observed in 47 cases out of 244 ameloblastomas (19.3%). Segmental resection was associated with a low risk of recurrence (p = 0003), whereas enucleation plus curettage/peripheral ostectomy was associated with a high risk of recurrence (p = 0002). A multilocular radiographic appearance was associated with a high risk of recurrence (p < .05), as well as the benign solid/multicystic histologic type (p < .05). Within the limitations of the study it seems that the management of ameloblastomas will probably remain controversial even in the future. Balancing low surgical morbidity with a low recurrence rate is a difficult aim to reach. (c) 2021 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
|
|
