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01.03.2015 | Original Article

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing

verfasst von: Ashton A. Connor, Hagit Katzov-Eckert, Thomas Whelan, Melyssa Aronson, Lynette Lau, Christian Marshall, George S. Charames, Aaron Pollett, Steven Gallinger, Jordan Lerner-Ellis

Erschienen in: Familial Cancer | Ausgabe 1/2015

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Abstract

The identification of germline variants that predispose to cancer is important to further our understanding of tumorigenesis, guide patient management, prevent disease in unaffected relatives, and inform best practice for health care. We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members. This case fosters discussion of our current understanding of DNA mismatch repair deficiency, the management of Lynch Syndrome, and the emerging role of next generation sequencing in laboratory medicine to identify rare pathogenic germline variants in a comprehensive, unbiased fashion.

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Titel: Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing
verfasst von: Ashton A. Connor
Hagit Katzov-Eckert
Thomas Whelan
Melyssa Aronson
Lynette Lau
Christian Marshall
George S. Charames
Aaron Pollett
Steven Gallinger
Jordan Lerner-Ellis
Publikationsdatum: 01.03.2015
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 1/2015
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-014-9765-9

Springer Medizin

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing

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