M Janatová, Š Chvojka, E Macháčková, J Soukupová, P Zemánková, P Nehasil, T Zavoral, L Hrušková, K M Kozáková Janíková, F Lhota, S Tavandzis, P Kleiblová, Z Kleibl, Czecanca Konzorcium
{"title":"癌症易感基因检测中发现的种系变异的分类--CZECANCA 联合会的共识。","authors":"M Janatová, Š Chvojka, E Macháčková, J Soukupová, P Zemánková, P Nehasil, T Zavoral, L Hrušková, K M Kozáková Janíková, F Lhota, S Tavandzis, P Kleiblová, Z Kleibl, Czecanca Konzorcium","doi":"10.48095/ccko2023431","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential for the clinical interpretation of genetic test results.</p><p><strong>Purpose: </strong>The aim of this study is to summarise the rules for classifying identified variants within individual laboratories and to present the process for creating a common classification. In the Czech Republic, the sharing of identified genetic variants and the development of their consensus classification among national laboratory diagnostic communities is carried out within the Czech Cancer Panel for Clinical Application (CZECANCA) consortium of scientific and diagnostic oncogenetic laboratories. Consensus for variant classification follows a defined protocol. Sharing the results and consensus classification accelerates and refines the release of genetic test results, harmonises results between laboratories and thus contributes to improving the care of individuals at high risk of cancer and their relatives.</p>","PeriodicalId":35565,"journal":{"name":"Klinicka Onkologie","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.\",\"authors\":\"M Janatová, Š Chvojka, E Macháčková, J Soukupová, P Zemánková, P Nehasil, T Zavoral, L Hrušková, K M Kozáková Janíková, F Lhota, S Tavandzis, P Kleiblová, Z Kleibl, Czecanca Konzorcium\",\"doi\":\"10.48095/ccko2023431\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential for the clinical interpretation of genetic test results.</p><p><strong>Purpose: </strong>The aim of this study is to summarise the rules for classifying identified variants within individual laboratories and to present the process for creating a common classification. In the Czech Republic, the sharing of identified genetic variants and the development of their consensus classification among national laboratory diagnostic communities is carried out within the Czech Cancer Panel for Clinical Application (CZECANCA) consortium of scientific and diagnostic oncogenetic laboratories. Consensus for variant classification follows a defined protocol. Sharing the results and consensus classification accelerates and refines the release of genetic test results, harmonises results between laboratories and thus contributes to improving the care of individuals at high risk of cancer and their relatives.</p>\",\"PeriodicalId\":35565,\"journal\":{\"name\":\"Klinicka Onkologie\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Klinicka Onkologie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.48095/ccko2023431\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Klinicka Onkologie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.48095/ccko2023431","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium.
Background: Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified. The correct classification of the variants found is essential for the clinical interpretation of genetic test results.
Purpose: The aim of this study is to summarise the rules for classifying identified variants within individual laboratories and to present the process for creating a common classification. In the Czech Republic, the sharing of identified genetic variants and the development of their consensus classification among national laboratory diagnostic communities is carried out within the Czech Cancer Panel for Clinical Application (CZECANCA) consortium of scientific and diagnostic oncogenetic laboratories. Consensus for variant classification follows a defined protocol. Sharing the results and consensus classification accelerates and refines the release of genetic test results, harmonises results between laboratories and thus contributes to improving the care of individuals at high risk of cancer and their relatives.