ArticlemedRxiv : the preprint server for health sciences2023
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
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Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
51 authors at 20 institutions in 2 countries.
Romy WalkerColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Khalid MahmoodColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Jihoon E JooColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Mark ClendenningColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Peter GeorgesonColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Julia ComoColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Sharelle JoselandColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Susan G PrestonColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Yoland AntillFamilial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
Rachel AustinGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Alex BoussioutasCentral Clinical School, Monash University, Melbourne, VIC 3004, Australia.
Michelle BowmanFamilial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.
Jo BurkeTasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
Ainsley CampbellClinical Genetics Unit, Austin Health, Melbourne, VIC 3084, Australia.
Simin DaneshvarColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Emma EdwardsFamilial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.
Margaret GleesonHunter Family Cancer Service, Newcastle, NSW 2298, Australia.
Annabel GoodwinCancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Marion T HarrisMonash Health Familial Cancer Centre, Clayton, VIC 3168, Australia.
Alex HendersonGenetic Health Service, Wellington, Greater Wellington, 6242, New Zealand.
Megan HigginsGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
John L HopperCentre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia.
Ryan A HutchinsonColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Emilia IpCancer Genetics service, Liverpool Hospital, Liverpool, NSW 2170, Australia.
Joanne IsbisterGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Kais KasemDepartment of Clinical Pathology, Medicine Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.
Helen MarfanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Di MilnesGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Annabelle NgCancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
Cassandra NicholsGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Shona O'ConnellMonash Health Familial Cancer Centre, Clayton, VIC 3168, Australia.
Nicholas PachterGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Bernard J PopeColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Nicola PoplawskiAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.
Abiramy RagunathanFamilial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.
Courtney SmythFamilial Cancer Centre, Monash Health, Clayton, VIC 3168, Australia.
Allan SpigelmanHunter Family Cancer Service, Newcastle, NSW 2298, Australia.
Kirsty StoreyParkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC 3000, Australia.
Rachel SusmanGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Jessica A TaylorGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Linda WarwickACT Genetic Service, The Canberra Hospital, Woden, ACT 2606, Australia.
Mathilda WildingFamilial Cancer Service, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.
Rachel WilliamsPrince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.
Aung K WinUniversity of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Michael D WalshSullivan Nicolaides Pathology, Bowen Hills, QLD 4006, Australia.
Finlay A MacraeGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Mark A JenkinsUniversity of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Christophe RostyColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Ingrid M WinshipGenomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Daniel D BuchananColorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Family Cancer Clinics of Australia
The University of Melbourne · AUThe Royal Melbourne Hospital · AURoyal Brisbane and Women's Hospital · AUMonash Health · AUWestmead Hospital · AUThe University of Queensland · AUUNSW Sydney · AUAustin Health · AUCanberra Hospital · AUHunter Genetics · AUKing Edward Memorial Hospital · AULiverpool Hospital · AUPeter MacCallum Cancer Centre · AUQueensland University of Technology · AURoyal Adelaide Hospital · AURoyal North Shore Hospital · AURoyal Prince Alfred Hospital · AUThe University of Sydney · AUThe University of Western Australia · AUUniversity of Tasmania · AU
Funding
USC Consortium:Colorectal Cancer Family RegistryU01CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 1997 to 2008
$20.4MData sharing: the Colon Cancer Family Registry CohortU01CA167551 · NCI · UNIVERSITY OF MELBOURNE · PI Daniel David BUCHANAN, Steven Gallinger · 2018 to 2026
$16.8MSEATTLE FAMILIAL COLORECTAL CANCER REGISTRYU01CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 1997 to 2007
$14.1MONTARIO REGISTRY FOR STUDIES OF FAMILIAL COLON CANCERU01CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 1997 to 2008
$12.5MFAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPU01CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY · 1997 to 2007
$9.1MThe Colon Cancer Family Registry: USC ConsortiumU24CA074799 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAILE, ROBERT WILLIAM · 2008 to 2011
$7.6MThe Colon Cancer Family Registry: SeattleU24CA074794 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI NEWCOMB, POLLY A · 2008 to 2011
$7.0MAUSTRALASIAN COLORECTAL CANCER FAMILY REGISTRYU01CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2002 to 2007
$6.9MThe Colon Cancer Family Registry: AustralasiaU24CA097735 · NCI · UNIVERSITY OF MELBOURNE · PI HOPPER, JOHN L · 2008 to 2011
$6.2MHAWAII FAMILY REGISTRY OF COLON CANCERU01CA074806 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI LE MARCHAND, LOIC · 1997 to 2008
$6.1MThe Familial Colorectal Neoplasia Collaborative GroupU24CA074800 · NCI · MAYO CLINIC ROCHESTER · PI LINDOR, NORALANE MOREY, THIBODEAU, STEPHEN NORMAN · 2008 to 2011
$5.3MThe Colon Cancer Family Registry: OntarioU24CA074783 · NCI · CANCER CARE ONTARIO · PI GALLINGER, STEVEN · 2008 to 2011
$4.1MNCI NIH HHS U01 CA074783NCI NIH HHS U01 CA074794NCI NIH HHS U01 CA074799NCI NIH HHS U01 CA074800NCI NIH HHS U01 CA074806NCI NIH HHS U01 CA097735NCI NIH HHS U01 CA167551NCI NIH HHS U24 CA074783NCI NIH HHS U24 CA074794NCI NIH HHS U24 CA074799NCI NIH HHS U24 CA074800NCI NIH HHS U24 CA074806NCI NIH HHS U24 CA097735
Abstract
Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (SLS). SLS cases (n=135) were recruited from Family Cancer Clinics across Australia and New Zealand. Targeted panel sequencing was performed on tumor (n=137; 80xCRCs, 33xECs and 24xSSTs) and matched blood-derived DNA to assess for microsatellite instability status, tumor mutation burden, COSMIC tumor mutational signatures and to identify germline and somatic MMR gene variants. MMR immunohistochemistry (IHC) and
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.