Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility.

Adolescent Adult Cohort Studies Female Genetic Predisposition to Disease / genetics Germ Cells / physiology Humans Male Melanoma / genetics Mutation / genetics PTEN Phosphohydrolase / genetics Proto-Oncogene Proteins B-raf / genetics Whole Genome Sequencing / methods Young Adult
adolescent and young adult germline variant melanoma mutation signature whole genome sequencing

Journal

International journal of cancer
ISSN: 1097-0215
Titre abrégé: Int J Cancer
Pays: United States
ID NLM: 0042124

Informations de publication

Date de publication:
01 03 2019
Historique:
received: 05 04 2018
accepted: 09 07 2018
pubmed: 5 9 2018
medline: 6 5 2019
entrez: 5 9 2018
Statut: ppublish

Résumé

Cutaneous melanoma accounts for at least >10% of all cancers in adolescents and young adults (AYA, 15-30 years of age) in Western countries. To date, little is known about the correlations between germline variants and somatic mutations and mutation signatures in AYA melanoma patients that might explain why they have developed a cancer predominantly affecting those over 65 years of age. We performed genomic analysis of 50 AYA melanoma patients (onset 10-30 years, median 20); 25 underwent whole genome sequencing (WGS) of both tumor and germline DNA, exome data were retrieved from 12 TCGA AYA cases, and targeted DNA sequencing was conducted on 13 cases. The AYA cases were compared with WGS data from 121 adult cutaneous melanomas. Similar to mature adult cutaneous melanomas, AYA melanomas showed a high mutation burden and mutation signatures of ultraviolet radiation (UVR) damage. The frequencies of somatic mutations in BRAF (96%) and PTEN (36%) in the AYA WGS cohort were double the rates observed in adult melanomas (Q < 6.0 × 10

Identifiants

DOI: 10.1002/ijc.31791 PMID: 30178487
pubmed: 30178487
doi: 10.1002/ijc.31791
doi:

Substances chimiques

Proto-Oncogene Proteins B-raf EC 2.7.11.1
PTEN Phosphohydrolase EC 3.1.3.67

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1049-1060

Informations de copyright

© 2018 UICC.

Auteurs

James S Wilmott (JS)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.
ORCID: 0000-0002-6750-5244

Peter A Johansson (PA)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Felicity Newell (F)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Nicola Waddell (N)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Peter Ferguson (P)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.
Royal Prince Alfred Hospital, Camperdown, Australia.

Camelia Quek (C)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.

Ann-Marie Patch (AM)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Katia Nones (K)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Ping Shang (P)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.

Antonia L Pritchard (AL)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
The University of the Highlands and Islands, Inverness, United Kingdom.

Stephen Kazakoff (S)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Oliver Holmes (O)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Conrad Leonard (C)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Scott Wood (S)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Qinying Xu (Q)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Robyn P M Saw (RPM)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Royal Prince Alfred Hospital, Camperdown, Australia.

Andrew J Spillane (AJ)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Royal North Shore Hospital, New South Wales, Australia.

Jonathan R Stretch (JR)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.

Kerwin F Shannon (KF)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Royal Prince Alfred Hospital, Camperdown, Australia.
Chris O'Brien Lifehouse, Royal Prince Alfred Hospital, Camperdown, Australia.

Richard F Kefford (RF)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Macquarie University, North Ryde, Australia.

Alexander M Menzies (AM)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Royal North Shore Hospital, New South Wales, Australia.

Georgina V Long (GV)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.
Royal North Shore Hospital, New South Wales, Australia.

John F Thompson (JF)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Royal Prince Alfred Hospital, Camperdown, Australia.

John V Pearson (JV)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

Graham J Mann (GJ)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, Australia.

Nicholas K Hayward (NK)

QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Richard A Scolyer (RA)

Melanoma Institute Australia, The University of Sydney, Sydney, Australia.
Sydney Medical School, The University of Sydney, Sydney, Australia.
Charles Perkins Centre, The University of Sydney, Sydney, Australia.
Royal Prince Alfred Hospital, Camperdown, Australia.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Cellules › Cellules germinales › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Naevus et mélanomes › Mélanome › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Phosphohydrolase PTEN › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Kinases raf › Protéines proto-oncogènes B-raf › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Whole genome sequencing of melanomas in...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Whole genome sequencing of melanomas in...