GC-HBOC Mutation Frequency Explorer

LHA-ID
7Q0CE8DEYG-9
Motivation

The "GC-HBOC Mutation Frequency Explorer" can be used to assist clinicians and genetic counselors in the clinical management of families suspected of having hereditary breast and ovarian cancer and to decide whether genetic testing should be performed.

Description
The "GC-HBOC Mutation Frequency Explorer" is a tool to determine the observed frequencies of pathogenic BRCA1 and BRCA2 mutations based on familial cancer history data collected since 1996 by the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) in over 36,000 families suspected of having hereditary breast and ovarian cancer (Kast et al, 2016). This tool allows querying mutation frequencies for both predefined as well as flexibly customizable familial cancer histories.
Sponsor
German Cancer Aid
Contact
PD Dr. Christoph Engel
Contact Institution

Institute for Medical Informatics, Statistics and Epidemiology (IMISE)
University of Leipzig
Härtelstr. 16-18
04107 Leipzig

Human Disease Ontology Concept