Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations
| Autor: | Isabelle Coupier, Jérôme Solassol, Virginie Galibert, Jean Chiesa, Lydie Bernhard, Solange Carton, Pierre Vande Perre, Ornellia Mophawe, Jean Marc Rey, Laura Robert, Valérie Macioce, Aude Michel, Marie-Christine Picot, Noëlle Bastide, Helena Bertet, Frédéric Thomas, Pascal Pujol, Carole Corsini, Yves-Jean Bignon, Nathalie Alegre |
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| Přispěvatelé: | Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Laboratoire d'Oncologie Moléculaire, Unité de Prévention et de Dépistage des Cancers, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Université Paul-Valéry - Montpellier 3 (UPVM), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier) |
| Rok vydání: | 2019 |
| Předmět: |
Proband
Adult Male Coping (psychology) congenital hereditary and neonatal diseases and abnormalities [SDV]Life Sciences [q-bio] Experimental and Cognitive Psychology [SDV.CAN]Life Sciences [q-bio]/Cancer Disclosure Gene mutation DNA Mismatch Repair 03 medical and health sciences 0302 clinical medicine BRCA 1 Alexithymia BRCA 2 Medicine cancer Humans Family Genetic Predisposition to Disease 030212 general & internal medicine Genetic Testing Family history genes Genetic testing BRCA2 Protein medicine.diagnostic_test business.industry BRCA1 Protein Middle Aged medicine.disease 3. Good health Psychiatry and Mental health 030220 oncology & carcinogenesis oncology Mutation Anxiety Female medicine.symptom business Psychosocial Clinical psychology |
| Zdroj: | Psycho-Oncology Psycho-Oncology, Wiley, 2019, 28 (8), pp.1679-1686. ⟨10.1002/pon.5142⟩ |
| ISSN: | 1099-1611 1057-9249 |
| Popis: | International audience; ObjectiveIntrafamilial disclosure of hereditary cancer predisposition in BRCA1/2 and mismatch repair gene (MMR) syndromes allows appropriate prevention strategies in at‐risk relatives. We previously showed in a nationwide study that the uptake of genetic targeted testing (GTT) in these families was only 30%. We aimed to identify the clinical and psychosocial factors affecting the probands' intrafamilial disclosure and relatives' uptake of GTT in BRCA1/2 or MMR syndromes.MethodsWe assessed clinical variables, family history, and psychosocial variables of probands (depressive symptoms, anxiety, alexithymia, optimism, coping, family relationship, perception of cancer risks, and of hereditary transmission), together with disclosure and uptake of GTT within 103 French BRCA1/2 or MMR families.ResultsAmong relatives eligible for GTT, 68% were informed of the predisposition, and 37% underwent GTT, according to probands' reports. Intrafamilial disclosure was inversely associated with the degree of kinship (P < .01). In multivariable analysis, disclosure increased with time since probands' genetic diagnosis (P < .01) and probands' feeling of family cohesion (0.01). GTT uptake increased with probands' depressive symptoms (0.02) and decreased with probands' perception of cancer risks (0.03). BRCA1/2 and MMR groups did not differ concerning family information and GTT uptake.ConclusionsThis study identified factors affecting disclosure to relatives and GTT uptake in BRCA1/2 and MMR syndromes and gives new insights to improve probands' follow‐up and intrafamilial sharing of genetic information. |
| Databáze: | OpenAIRE |
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