Journal article
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
P Georgeson, MD Walsh, M Clendenning, S Daneshvar, BJ Pope, K Mahmood, JE Joo, H Jayasekara, MA Jenkins, IM Winship, DD Buchanan
Molecular Genetics and Genomic Medicine | WILEY | Published : 2019
DOI: 10.1002/mgg3.781
Abstract
Background: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation. Loss of expression of MMR proteins is frequently observed in sebaceous skin lesions, but MMR-deficiency alone is not diagnostic for carrying a germline MMR gene mutation. Methods: Whole exome sequencing was performed on three MMR-deficient sebaceous lesions from individuals with MSH2 gene mutations (Lynch syndrome) and three MMR-proficient sebaceous lesions from individuals without Lynch syndrome with the aim of characterizing the tumor mutational signatures, somatic mutation burden, and microsatellite instability status. Thirty pred..
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Awarded by Cooperative Research Centres, Australian Government Department of Industry
Funding Acknowledgements
This study was supported in part by a National Health and Medical Research Council of Australia (NHMRC) project grant 1108797 (PI-Ingrid Winship). HJ is supported by a Victorian Cancer Agency Early Career Seed grant. MAJ is an NHMRC Senior Research Fellow. BJP is supported by a Victorian Health and Medical Research Fellowship. DDB is supported by a NHMRC R.D. Wright Career Development Fellowship. PG is supported by an Australian Government Research Training Program Scholarship. Funding supported the design and conduct of the study, collection, management, analysis and interpretation of data. "Research reported in this publication was supported by the National Cancer Institute of the National Institutes of Health under Award Number UM1CA167551 and through cooperative agreements with the following CCFR centres: Australasian Colorectal Cancer Family Registry (NCI/NIH U01 CA074778 and U01/U24 CA097735) and by the Victorian Cancer Registry, Australia. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centres in the Colon Cancer Family Registry (CCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the CCFR.