| Title: |
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group |
| Authors: |
Mandelker, Diana; Donoghue, M.; Talukdar, S.; Bandlamudi, C.; Srinivasan, P.; Vivek, M.; Jezdic, S.; Hanson, H.; Snape, K.; Kulkarni, A.; Hawkes, L.; Douillard, J.-Y; Wallace, S.E.; Rial-Sebbag, E.; Meric-Bersntam, F.; George, A.; Chubb, D.; Loveday, C.; Ladanyi, M.; Berger, M.F.; Taylor, B.S.; Turnbull, C, Clare |
| Contributors: |
Memorial Sloan Kettering Cancer Center (MSKCC); St George's, University of London; Lugano Regional Hospital Lugano; Guy's and St Thomas' NHS Foundation Trust; University of Oxford; University of Leicester; Equipe BIOETHICS (CERPOP); Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP); Université Toulouse III - Paul Sabatier (UT3); Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3); Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM); MD Anderson Cancer Center Houston; The University of Texas Health Science Center at Houston (UTHealth); The Royal Marsden NHS Foundation Trust London; The Institute of Cancer Research; William Harvey Research Institute, Barts and the London Medical School |
| Source: |
ISSN: 0923-7534. |
| Publisher Information: |
CCSD; Elsevier |
| Publication Year: |
2019 |
| Collection: |
Université Toulouse III - Paul Sabatier: HAL-UPS |
| Subject Terms: |
gene; germline; panel; predisposition; sequencing; susceptibility; MESH: Biomarkers; Tumor / genetics; MESH: DNA Mutational Analysis; MESH: Medical Oncology / standards; MESH: Neoplasms / diagnosis; MESH: Neoplasms / genetics; MESH: Practice Guidelines as Topic; MESH: Precision Medicine / methods; MESH: Precision Medicine / standards; MESH: Societies; Medical / standards; MESH: European Union; MESH: Genetic Predisposition to Disease; MESH: Genetic Testing / standards; MESH: Germ-Line Mutation; MESH: High-Throughput Nucleotide Sequencing; MESH: Humans; MESH: Informed Consent / standards; MESH: Medical Oncology / methods; [SDV]Life Sciences [q-bio] |
| Description: |
International audience ; 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. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/31050713; PUBMED: 31050713; PUBMEDCENTRAL: PMC6683854 |
| DOI: |
10.1093/annonc/mdz136 |
| Availability: |
https://hal.science/hal-04675463; https://hal.science/hal-04675463v1/document; https://hal.science/hal-04675463v1/file/MANDELKER_2019.pdf; https://doi.org/10.1093/annonc/mdz136 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.2E45FAE6 |
| Database: |
BASE |