A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
01 Mar 2023
Historique:
entrez: 13 3 2023
pubmed: 14 3 2023
medline: 14 3 2023
Statut: epublish

Résumé

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

Identifiants

DOI: 10.1101/2023.02.27.23285541 PMID: 36909643 PMC: PMC10002795
pubmed: 36909643
doi: 10.1101/2023.02.27.23285541
pmc: PMC10002795
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NCI NIH HHS
ID : U01 CA074799
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA074783
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA074794
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA074806
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA167551
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA097735
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA074783
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA074799
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA074800
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA097735
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA074794
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA074806
Pays : United States
Organisme : NCI NIH HHS
ID : U24 CA074800
Pays : United States

Commentaires et corrections

Type : UpdateIn

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Auteurs

Romy Walker (R)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Khalid Mahmood (K)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3051, Australia.

Jihoon E Joo (JE)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Mark Clendenning (M)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Peter Georgeson (P)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Julia Como (J)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Sharelle Joseland (S)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Susan G Preston (SG)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Yoland Antill (Y)

Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
Familial Cancer Centre, Cabrini Health, Malvern, VIC 3144, Australia.
Familial Cancer Centre, Monash Health, Clayton, VIC 3168, Australia.
Faculty of Medicine, Dentistry and Health Sciences, Monash University, Melbourne, VIC 3800, Australia.

Rachel Austin (R)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.

Alex Boussioutas (A)

Central Clinical School, Monash University, Melbourne, VIC 3004, Australia.
Department of Gastroenterology, The Alfred Hospital, Melbourne, VIC 3004, Australia.
Department of Medicine, The Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.
Familial Cancer Centre, Peter MacCallum Cancer Centre, Parkville, VIC 3000, Australia.

Michelle Bowman (M)

Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.

Jo Burke (J)

Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia.
School of Medicine, University of Tasmania, Sandy Bay, TAS 7005 Australia.

Ainsley Campbell (A)

Clinical Genetics Unit, Austin Health, Melbourne, VIC 3084, Australia.

Simin Daneshvar (S)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Emma Edwards (E)

Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.

Margaret Gleeson (M)

Hunter Family Cancer Service, Newcastle, NSW 2298, Australia.

Annabel Goodwin (A)

Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.
University of Sydney, Sydney, NSW 2050, Australia.

Marion T Harris (MT)

Monash Health Familial Cancer Centre, Clayton, VIC 3168, Australia.

Alex Henderson (A)

Genetic Health Service, Wellington, Greater Wellington, 6242, New Zealand.
Wellington Hospital, Newtown, Greater Wellington 6021, New Zealand.

Megan Higgins (M)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
University of Queensland, St Lucia, QLD 4067, Australia.

John L Hopper (JL)

Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia.

Ryan A Hutchinson (RA)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.

Emilia Ip (E)

Cancer Genetics service, Liverpool Hospital, Liverpool, NSW 2170, Australia.

Joanne Isbister (J)

Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Department of Medicine, The University of Melbourne, VIC 3000, Australia.
Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC 3000, Australia.

Kais Kasem (K)

Department of Clinical Pathology, Medicine Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia.

Helen Marfan (H)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.

Di Milnes (D)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.
Royal Brisbane and Women's Hospital, Herston, QLD 4029, Australia.

Annabelle Ng (A)

Cancer Genetics Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia.

Cassandra Nichols (C)

Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.

Shona O'Connell (S)

Monash Health Familial Cancer Centre, Clayton, VIC 3168, Australia.

Nicholas Pachter (N)

Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.
Medical School, University of Western Australia, Perth, WA 6009, Australia.
School of Medicine, Curtin University, Perth, WA 6845, Australia.

Bernard J Pope (BJ)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
Melbourne Bioinformatics, The University of Melbourne, Melbourne, VIC 3051, Australia.

Nicola Poplawski (N)

Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.
Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.

Abiramy Ragunathan (A)

Familial Cancer Service, Westmead Hospital, Sydney, NSW 2145, Australia.

Courtney Smyth (C)

Familial Cancer Centre, Monash Health, Clayton, VIC 3168, Australia.

Allan Spigelman (A)

Hunter Family Cancer Service, Newcastle, NSW 2298, Australia.
St Vincent's Cancer Genetics Unit, Sydney, NSW 2290, Australia.
Surgical Professorial Unit, UNSW Clinical School of Clinical Medicine, Sydney, NSW 2052, Australia.

Kirsty Storey (K)

Parkville Familial Cancer Centre, Peter McCallum Cancer Centre, Melbourne, VIC 3000, Australia.

Rachel Susman (R)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia.

Jessica A Taylor (JA)

Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.

Linda Warwick (L)

ACT Genetic Service, The Canberra Hospital, Woden, ACT 2606, Australia.

Mathilda Wilding (M)

Familial Cancer Service, Royal North Shore Hospital, St Leonards, NSW 2065, Australia.

Rachel Williams (R)

Prince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Kensington, NSW 2052, Australia.
Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, NSW 2031, Australia.

Aung K Win (AK)

University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia.
Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.

Michael D Walsh (MD)

Sullivan Nicolaides Pathology, Bowen Hills, QLD 4006, Australia.
School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD 4072, Australia.

Finlay A Macrae (FA)

Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

Mark A Jenkins (MA)

University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Centre for Epidemiology and Biostatistics, The University of Melbourne, Parkville, Melbourne, Victoria, 3010, Australia.

Christophe Rosty (C)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Envoi Specialist Pathologists, Brisbane, QLD 4059, Australia.
University of Queensland, Brisbane, QLD 4072, Australia.

Ingrid M Winship (IM)

Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.
Department of Medicine, The University of Melbourne, VIC 3000, Australia.

Daniel D Buchanan (DD)

Colorectal Oncogenomics Group, Department of Clinical Pathology, Victorian Comprehensive Cancer Centre, The University of Melbourne, Parkville, VIC 3010, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC 3010, Australia.
Genomic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Parkville, VIC 3000, Australia.

Classifications MeSH