Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.

Biomarkers, Tumor / genetics DNA Mutational Analysis European Union Genetic Predisposition to Disease Genetic Testing / standards Germ-Line Mutation High-Throughput Nucleotide Sequencing Humans Informed Consent / standards Medical Oncology / methods Neoplasms / diagnosis Practice Guidelines as Topic Precision Medicine / methods Societies, Medical / standards
gene germline panel predisposition sequencing susceptibility

Journal

Annals of oncology : official journal of the European Society for Medical Oncology
ISSN: 1569-8041
Titre abrégé: Ann Oncol
Pays: England
ID NLM: 9007735

Informations de publication

Date de publication:
01 08 2019
Historique:
pubmed: 6 5 2019
medline: 10 6 2020
entrez: 4 5 2019
Statut: ppublish

Résumé

It is increasingly common in oncology practice to perform tumour sequencing using large cancer panels. For pathogenic sequence variants in cancer susceptibility genes identified on tumour-only sequencing, it is often unclear whether they are of somatic or constitutional (germline) origin. There is wide-spread disparity regarding both the extent to which systematic 'germline-focussed analysis' is carried out upon tumour sequencing data and for which variants follow-up analysis of a germline sample is carried out. Here we present analyses of paired sequencing data from 17 152 cancer samples, in which 1494 pathogenic sequence variants were identified across 65 cancer susceptibility genes. From these analyses, the European Society of Medical Oncology Precision Medicine Working Group Germline Subgroup has generated (i) recommendations regarding germline-focussed analyses of tumour-only sequencing data, (ii) indications for germline follow-up testing and (iii) guidance on patient information-giving and consent.

Identifiants

DOI: 10.1093/annonc/mdz136 PMID: 31050713 PMC: PMC6683854
pubmed: 31050713
pii: S0923-7534(19)31270-0
doi: 10.1093/annonc/mdz136
pmc: PMC6683854
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1221-1231

Subventions

Organisme : Cancer Research UK
ID : C61296/A26688
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA227534
Pays : United States
Organisme : NCI NIH HHS
ID : R25 CA233208
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : Cancer Research UK
ID : 27223
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA204749
Pays : United States

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© The Author(s) 2019. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

Références

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Auteurs

D Mandelker (D)

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York. Electronic address: mandelkd@mskcc.org.

M Donoghue (M)

Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York.

S Talukdar (S)

Department of Clinical Genetics, St George's University of London, London.

C Bandlamudi (C)

Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York.

P Srinivasan (P)

Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York.

M Vivek (M)

Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, USA; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, USA.

S Jezdic (S)

European Society for Medical Oncology (ESMO) Head Office, Lugano, Switzerland.

H Hanson (H)

Department of Clinical Genetics, St George's University of London, London.

K Snape (K)

Department of Clinical Genetics, St George's University of London, London.

A Kulkarni (A)

Department of Clinical Genetics, Guy and St Thomas' NHS Foundation Trust, London.

L Hawkes (L)

Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford.

J-Y Douillard (JY)

European Society for Medical Oncology (ESMO) Head Office, Lugano, Switzerland.

S E Wallace (SE)

Department of Health Sciences, University of Leicester, Leicester, UK.

E Rial-Sebbag (E)

University of Toulouse, Toulouse, France.

F Meric-Bersntam (F)

Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, USA.

A George (A)

Cancer Genetics Unit, The Royal Marsden NHS Foundation Trust, London; Division of Genetics and Epidemiology, Institute of Cancer Research, London.

D Chubb (D)

Division of Genetics and Epidemiology, Institute of Cancer Research, London.

C Loveday (C)

Division of Genetics and Epidemiology, Institute of Cancer Research, London.

M Ladanyi (M)

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, USA.

M F Berger (MF)

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York; Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York.

B S Taylor (BS)

Marie-Josee and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York; Department of Clinical Genetics, St George's University of London, London; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, USA.

C Turnbull (C)

Department of Clinical Genetics, Guy and St Thomas' NHS Foundation Trust, London; Division of Genetics and Epidemiology, Institute of Cancer Research, London; William Harvey Research Institute, Queen Mary University of London, London; Public Health England, London, UK. Electronic address: clare.turnbull@icr.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Marqueurs biologiques tumoraux › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Sciences sociales › Internationalité › Coopération internationale › Union européenne › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Organisations et économie des soins de santé › Contrôle social formel › Jurisprudence › Consentement libre et éclairé › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Professions de santé › Médecine › Médecine interne › Oncologie médicale › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Tumeurs › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Assurance de la qualité des soins de santé › Recommandations comme sujet › Guides de bonnes pratiques cliniques comme sujet › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › Germline-focussed analysis of tumour-only...
questionsmedicales.fr › Organisations et économie des soins de santé › Organismes › Sociétés › Sociétés médicales › Germline-focussed analysis of tumour-only...