Evidence map›Paper›PMID 34359559›Full record

ArticleCancers2021

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

Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, Lisa Golmard, Etienne Rouleau, Céline Garrec, Mathilde Martinez, Christine Toulas and 46 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03246841 (Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.), which is not on this map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 23% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03246841 naactive not recruitingnot on this map

Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.

TypeinterventionalSponsorUNICANCERRan2017 to 2026Enrolled7,274ConditionsHereditary Breast and Ovarian Cancer, MutationArmsGenetic testing
3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

56 authors at 20 institutions in 2 countries.

Fabienne LesueurInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.ORCID 0000-0001-7404-4549
Séverine Eon-MarchaisInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Sarah Bonnet-BoissinotInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Juana BeauvalletInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Marie-Gabrielle DondonInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.ORCID 0000-0001-6016-8524
Lisa GolmardService de Génétique, Institut Curie, F-75005 Paris, France.
Etienne RouleauService de Génétique, Département de Biologie et Pathologie Médicales, Gustave Roussy, F-94805 Villejuif, France.
Céline GarrecLaboratoire Génétique Moléculaire, Institut de Biologie, CHU Hôtel Dieu, F-44093 Nantes, France.
Mathilde MartinezUnité de Génétique Clinique, CHU Rouen Normandie, F-76100 Rouen, France.
Christine ToulasLaboratoire d'Oncogénétique, Institut Claudius Regaud, IUCT-Oncopole, F-31100 Toulouse, France.
Tan Dat NguyenInstitut de Cancérologie Jean Godinot, F-51100 Reims, France.
Fanny BrayotelInstitut de Cancérologie Jean Godinot, F-51100 Reims, France.
Louise CrivelliService d'Oncogénétique, Centre Eugène Marquis, F-35000 Rennes, France.
Christine M MaugardCentre Paul Strauss, Unité d'Oncogénétique, ICANS Institut de Cancérologie de Strasbourg, F-67200 Strasbourg, France.
Virginie BubienUnité d'Oncogénétique, Département de Bio-Pathologie, Institut Bergonié, F-33000 Bordeaux, France.
Nicolas SevenetInstitut Bergonié, UFR des Sciences Pharmaceutiques, Collège des Sciences de la Santé Université de Bordeaux, INSERM U1218, F-33000 Bordeaux, France.
Paul GestaCH Georges Renon, Service d'Oncogénétique Régional Poitou-Charentes, F-79000 Niort, France.ORCID 0000-0002-4410-8668
Stéphanie Chieze-ValeroCH Georges Renon, Service d'Oncogénétique Régional Poitou-Charentes, F-79000 Niort, France.
Sophie NambotInstitut GIMI, CHU de Dijon, Hôpital d'Enfants, F-21000 Dijon, France.ORCID 0000-0002-9630-5049
Vincent GoussotUnité de Biologie Moléculaire, Département de Biologie et Pathologie des Tumeurs, Centre Georges François Leclerc, F-21000 Dijon, France.ORCID 0000-0002-6395-4173
Véronique MariService d'Oncogénétique et Recherche Clinique, Centre Antoine Lacassagne, F-06100 Nice, France.
Cornel PopoviciDépartement d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, F-13009 Marseille, France.
Fabienne PrieurService de Génétique, CHU-Hôpital Nord, F-42055 Saint Etienne, France.
Marie-Emmanuelle Morin-MeschinService d'Oncogénétique, Institut de Cancérologie de l'Ouest, Site Paul Papin, F-49055 Angers, France.ORCID 0000-0002-4419-341X
Julie TinatGénétique Médicale, CHU de Bordeaux, F-33000 Bordeaux, France.
Alain LortholaryService d'Oncologie Médicale, Centre Catherine de Sienne, Hôpital Privé du Confluent, F-44200 Nantes, France.
Hélène DreyfusClinique Sainte Catherine, F-84000 Avignon, France.
Marie BidartLaboratoire de Génétique Moléculaire: Maladies Rares et Oncologies, Institut de Biologie et Pathologie, CHU Grenoble Alpes, F-38700 Grenoble, France.
Marie-Agnès Collonge-RameConsultation d'Oncogénétique, Oncobiologie Génétique Bioinformatique, CHRU, F-25000 Besançon, France.
Monique Mozelle-NivoixCentre Hospitalier de Troyes, Hôpital S. Veil, F-10000 Troyes, France.
Laurence GladieffService d'Oncologie Médicale, Institut Claudius Regaud-IUCT-Oncopole, F-31100 Toulouse, France.
Sophie GiraudHospices Civils de Lyon, Service de Génétique, Groupement Hospitalier EST, F-69500 Bron, France.ORCID 0000-0003-1243-3084
Nadia Boutry-KryzaHospices Civils de Lyon, Service de Génétique, Groupement Hospitalier EST, F-69500 Bron, France.
Jean ChiesaUF de Cytogénétique et Génétique Médicale, CHRU Hôpital Caremeau, F-30900 Nîmes, France.
Philippe DenizeauService de Génétique Clinique, Hôpital Sud, F-35200 Rennes, France.
Yves-Jean BignonCentre Jean Perrin, Département d'Oncogénétique, Université Clermont Auvergne, UMR INSERM 1240, F-63011 Clermont Ferrand, France.
Nancy UhrhammerCentre Jean Perrin, LBM OncoGenAuvergne, F-63011 Clermont Ferrand, France.
Odile Cohen-HaguenauerUnité d'Oncogénétique Clinique AP-HP Nord-UP, DMU Icare, UFR de Médecine de l'Université de Paris, INSERM UMR-S 976, Hôpital Saint-Louis, F-75010 Paris, France.
Paul VilquinDépartement de Génomique des Tumeurs Solides, Hôpital Saint-Louis, APHP, F-75010 Paris, France.
Audrey MailliezCentre Oscar Lambret, F-59000 Lille, France.
Isabelle CoupierService de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, F-34090 Montpellier, France.
Jean-Marc ReyLaboratoire de Biopathologie Cellulaire et Tissulaire des Tumeurs, CHRU Arnaud de Villeneuve, F-34090 Montpellier, France.
Elodie LacazeUnité de Génétique Médicale, Groupe Hospitalier du Havre, F-76290 Le Havre, France.
Odile BéraCHU de Martinique, F-97261 Fort-de-France, France.
Chrystelle ColasService de Génétique, Institut Curie, F-75005 Paris, France.ORCID 0000-0001-9146-9346
Florence CouletService de Génétique, AP-HP, Hôpital Universitaire Pitié-Salpétrière, F-75013 Paris, France.
Capucine DelnatteUnité d'Oncogénétique, ICO-Site René Gauducheau, F-44800 Nantes Saint Herblain, France.
Claude HoudayerDépartement de Génétique, Hôpital Universitaire de Rouen, Unirouen, Inserm U1245, F-76000 Rouen, France.
Christine LassetCNRS UMR 5558, Université Claude Bernard Lyon 1, F-69100 Villeurbanne, France.
Jérôme LemonnierR&D UNICANCER, Fédération Nationale des Centres de Lutte Contre le Cancer, F-75013 Paris, France.
Michel LongyCancer Genetics Unit & INSERM U1218, Institut Bergonié, University of Bordeaux, F-33000 Bordeaux, France.
Catherine NoguèsDépartement d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, F-13009 Marseille, France.
Dominique Stoppa-LyonnetService de Génétique, Institut Curie, F-75005 Paris, France.ORCID 0000-0002-5438-8309
Dominique VaurLaboratoire de Biologie et de Génétique du Cancer, Centre François Baclesse, F-14000 Caen, France.ORCID 0000-0003-2792-8506
Nadine AndrieuInserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Olivier CaronDépartement de Médecine Oncologique, Gustave Roussy, F-94805 Villejuif, France.
Inserm · FRCentre Hospitalier de Niort · FRCentre Hospitalier Universitaire de Grenoble · FRHôpital Nord · FRHospices Civils de Lyon · FRInstitut Claudius Regaud · FRInstitut Curie · FRInstitut Gustave Roussy · FRInstitut Jean Godinot · FRUniversité de Bordeaux · FRAssistance Publique – Hôpitaux de Paris · FRCentre Antoine Lacassagne · FRCentre Eugène Marquis · FRCentre François Baclesse · FRCentre Georges François Leclerc · FRCentre Hospitalier de Troyes · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Martinique · MQCentre Jean Perrin · FRCentre Oscar Lambret · FR

Funding

GENETICANCERInstitut National de la Santé et de la Recherche MédicaleInstitut National Du Cancer PRT-K 15-166Ligue Contre le Cancer PRE2019.LCC/NASite de Recherche Intégrée sur le Cancer (SiRIC) INCa-DGOS-4654
6 · The paper itself

Abstract

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.

Indexed as

cancer risk estimategenetic predisposition to breast and ovarian cancermultigene panelspenetrance of pathogenic variants

Identifiers

PMID34359559
PMCPMC8345200
OpenAlexW3186586985

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.