- 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 Unpublished data submission was encouraged to assist in variant c...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1038/ng.2854
-
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- Journal:
- Nature genetics
- Volume:
- 46
- Issue:
- 2
- Pages:
- 107-115
- Publication date:
- 2014-02-05
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- URN:
-
uuid:ef6d26b2-a495-4cfd-88f9-a4669a6f1113
- Source identifiers:
-
444063
- Local pid:
- pubs:444063
- Language:
- English
- Keywords:
- Copyright date:
- 2014
Journal article
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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