TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing - Centre François Baclesse Accéder directement au contenu
Article Dans Une Revue Cancers Année : 2021

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing

1 Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe
2 Institut Curie [Paris]
3 IGR - Institut Gustave Roussy
4 Génétique (Biologie pathologie)
5 Hôtel-Dieu de Nantes
6 CHU Rouen
7 Institut Claudius Regaud
8 IUCT Oncopole - UMR 1037 - Institut Universitaire du Cancer de Toulouse - Oncopole
9 Institut Jean Godinot [Reims]
10 CRLCC - CRLCC Eugène Marquis
11 ICANS - Institut de Cancérologie de Strasbourg Europe
12 CRLCC Paul Strauss - Centre Paul Strauss
13 Institut Bergonié [Bordeaux]
14 ACTION - Actions for OnCogenesis understanding and Target Identification in ONcology
15 CH Georges Renon Niort - Centre Hospitalier Georges Renon [Niort]
16 institut GIMI - Institut de médecine génomique et d’immunothérapie (Genomic and Immunotherapy Medical Institute)
17 UNICANCER/CRLCC-CGFL - Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon]
18 UNICANCER/CAL - Centre de Lutte contre le Cancer Antoine Lacassagne [Nice]
19 IPC - Institut Paoli-Calmettes
20 CHU ST-E - Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne]
21 UNICANCER/ICO - Institut de Cancérologie de l'Ouest [Angers/Nantes]
22 CHU Bordeaux
23 CCS - Centre Catherine-de-Sienne [Nantes]
24 Hôpital privé du Confluent [Nantes]
25 Institut Sainte Catherine [Avignon]
26 hôpital couple-enfant [CHU Grenoble Alpes]
27 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
28 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
29 Centre hospitalier de Troyes
30 HCL - Hospices Civils de Lyon
31 GHE - Groupement Hospitalier Lyon-Est
32 CHU Nîmes - Hôpital Universitaire Carémeau [Nîmes]
33 Hôpital Sud [CHU Rennes]
34 IMoST - Imagerie Moléculaire et Stratégies Théranostiques
35 UNICANCER/CJP - Centre Jean Perrin [Clermont-Ferrand]
36 HIPI (UMR_S_976 / U976) - Immunologie humaine, physiopathologie & immunothérapie
37 AP-HP - Hopital Saint-Louis [AP-HP]
38 UNICANCER/Lille - Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille]
39 Hôpital Arnaud de Villeneuve [CHRU Montpellier]
40 IRCM - U1194 Inserm - UM - Institut de Recherche en Cancérologie de Montpellier
41 Groupe Hospitalier du Havre
42 CHU de la Martinique [Fort de France]
43 CHU Pitié-Salpêtrière [AP-HP]
44 CRLCC René Gauducheau
45 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
46 LBBE - Laboratoire de Biométrie et Biologie Evolutive - UMR 5558
47 Centre Léon Bérard [Lyon]
48 UNICANCER
49 SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD - Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale
50 U830 - Unité de génétique et biologie des cancers
51 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
52 Centre médical de Bligny
53 Onco-génétique
Mathilde Martinez
  • Fonction : Auteur
Cornel Popovici
Julie Tinat
  • Fonction : Auteur
Florence Coulet
Jérôme Lemonnier
  • Fonction : Auteur

Résumé

Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC was designed to estimate the cumulative risk of cancer for carriers of a PPV in a gene that is usually tested in a hereditary breast and ovarian cancer context. Index cases are enrolled consecutively among patients who undergo genetic testing as part of their care plan in France. First- and second-degree relatives and cousins of PPV carriers are invited to participate whether they are affected by cancer or not, and genotyped for the familial PPV. Clinical, family and epidemiological data are collected, and all data including sequencing data are centralized at the coordinating centre. The three-year feasibility study included 4431 prospective index cases, with 19.1% of them carrying a PPV. When invited by the coordinating centre, 65.3% of the relatives of index cases (5.7 relatives per family, on average) accepted the invitation to participate. The study logistics were well adapted to clinical and laboratory constraints, and collaboration between partners (clinicians, biologists, coordinating centre and participants) was smooth. Hence, TUMOSPEC is being pursued, with the aim of optimizing clinical management guidelines specific to each gene.
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hal-03345372 , version 1 (17-09-2021)

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Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, et al.. TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing. Cancers, 2021, 13 (15), pp.3659. ⟨10.3390/cancers13153659⟩. ⟨hal-03345372⟩
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