Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing in families with BRCA1/2 or MMR gene mutations
| العنوان: | Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing in families with BRCA1/2 or MMR gene mutations |
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| المؤلفون: | Virginie Galibert, Pascal Pujol, Nathalie Alegre, Carole Corsini, Yves-Jean Bignon, Marie Picot, Jean Chiesa, Pierre Vande Perre, Helena Bertet |
| المصدر: | Journal of Clinical Oncology. 37:e13151-e13151 |
| بيانات النشر: | American Society of Clinical Oncology (ASCO), 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Genetics, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, medicine.diagnostic_test, business.industry, Gene mutation, Oncology, Medicine, DNA mismatch repair, Hereditary Cancer, business, Gene, Psychosocial, Genetic testing |
| الوصف: | e13151 Background: Intrafamilial 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 by relatives was only 30%. We aimed to identify the medical and psychosocial factors affecting the proband’s intrafamilial disclosure and relatives’ uptake of GTT in BRCA1/2 or MMR syndromes. Methods: We assessed clinical variables, family history and several psychological variables of probands (depression, anxiety, alexithymia, optimism, coping, family relationship, perception of cancer risks and of hereditary transmission risks), together with disclosure and verified uptake of GTT in BRCA1/2 or MMR families. Results: Among relatives eligible for GTT, 68% were informed of the predisposition and 37% underwent GTT, according to proband reports. Intrafamilial disclosure was inversely associated with the degree of kinship (P < 0.01). In multivariable analysis, disclosure increased with time since proband’s genetic diagnosis (P < 0.01) and proband’s feeling of family cohesion (P = 0.01). GTT uptake increased with proband’s depression score (P = 0.02) and decreased with proband’s perception of cancer risks (P = 0.03). BRCA1/2 and MMR groups did not differ in findings concerning family information and GTT uptake. Conclusions: This 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. |
| تدمد: | 1527-7755 0732-183X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::ec2119b22cbe44d0733b823d68fdbbc3 https://doi.org/10.1200/jco.2019.37.15_suppl.e13151 |
| رقم الأكسشن: | edsair.doi...........ec2119b22cbe44d0733b823d68fdbbc3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15277755 0732183X |
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