Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations
Nathalie Alegre
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Nathalie Alegre and Pierre Vande Perre are co-first authorsSearch for more papers by this authorPierre Vande Perre
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Université Toulouse III Paul Sabatier, Toulouse, France
Nathalie Alegre and Pierre Vande Perre are co-first authorsSearch for more papers by this authorYves Jean Bignon
Laboratoire d'Oncologie moléculaire, CLCC Jean Perrin, Clermont-Ferrand, France
Search for more papers by this authorAude Michel
Département de Psychologie, Université Montpellier III, Montpellier, France
Search for more papers by this authorVirginie Galibert
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorOrnellia Mophawe
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorCarole Corsini
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorIsabelle Coupier
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorJean Chiesa
Département de Génétique médicale et cytogénétique, Centre Hospitalier Universitaire Nîmes, Nîmes, France
Search for more papers by this authorLaura Robert
Laboratoire d'Oncologie moléculaire, CLCC Jean Perrin, Clermont-Ferrand, France
Search for more papers by this authorLydie Bernhard
Département de Génétique médicale et cytogénétique, Centre Hospitalier Universitaire Nîmes, Nîmes, France
Search for more papers by this authorMarie-Christine Picot
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Clinical Investigation Centre, INSERM U1411, Montpellier, France
Search for more papers by this authorHéléna Bertet
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Search for more papers by this authorValérie Macioce
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Search for more papers by this authorJérôme Solassol
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorJean Marc Rey
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorFrédéric Thomas
Centre de Recherches Écologiques et Évolutives sur le Cancer, Montpellier, France
Search for more papers by this authorSolange Carton
Département de Psychologie, Université Montpellier III, Montpellier, France
Search for more papers by this authorCorresponding Author
Pascal Pujol
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Correspondence
Professor Pascal Pujol, Mailing address: Département de Génétique Médicale, service d'Oncogénétique, CHU de Montpellier, Hôpital Arnaud de Villeneuve, 371 avenue du Doyen Gaston Giraud, 34295 Montpellier cedex 5, France.
Email: [email protected]
Search for more papers by this authorNathalie Alegre
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Nathalie Alegre and Pierre Vande Perre are co-first authorsSearch for more papers by this authorPierre Vande Perre
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Université Toulouse III Paul Sabatier, Toulouse, France
Nathalie Alegre and Pierre Vande Perre are co-first authorsSearch for more papers by this authorYves Jean Bignon
Laboratoire d'Oncologie moléculaire, CLCC Jean Perrin, Clermont-Ferrand, France
Search for more papers by this authorAude Michel
Département de Psychologie, Université Montpellier III, Montpellier, France
Search for more papers by this authorVirginie Galibert
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorOrnellia Mophawe
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorCarole Corsini
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorIsabelle Coupier
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorJean Chiesa
Département de Génétique médicale et cytogénétique, Centre Hospitalier Universitaire Nîmes, Nîmes, France
Search for more papers by this authorLaura Robert
Laboratoire d'Oncologie moléculaire, CLCC Jean Perrin, Clermont-Ferrand, France
Search for more papers by this authorLydie Bernhard
Département de Génétique médicale et cytogénétique, Centre Hospitalier Universitaire Nîmes, Nîmes, France
Search for more papers by this authorMarie-Christine Picot
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Clinical Investigation Centre, INSERM U1411, Montpellier, France
Search for more papers by this authorHéléna Bertet
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Search for more papers by this authorValérie Macioce
Unité de Recherche Clinique & Epidémiologie, DIM, Centre Hospitalier Universitaire Montpellier, Montpellier, France
Search for more papers by this authorJérôme Solassol
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorJean Marc Rey
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Search for more papers by this authorFrédéric Thomas
Centre de Recherches Écologiques et Évolutives sur le Cancer, Montpellier, France
Search for more papers by this authorSolange Carton
Département de Psychologie, Université Montpellier III, Montpellier, France
Search for more papers by this authorCorresponding Author
Pascal Pujol
Unité d'Oncogénétique, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire Montpellier, MIVEGEC, Montpellier, France
Correspondence
Professor Pascal Pujol, Mailing address: Département de Génétique Médicale, service d'Oncogénétique, CHU de Montpellier, Hôpital Arnaud de Villeneuve, 371 avenue du Doyen Gaston Giraud, 34295 Montpellier cedex 5, France.
Email: [email protected]
Search for more papers by this authorAbstract
Objective
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 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.
Methods
We 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.
Results
Among 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.
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.
Supporting Information
| Filename | Description |
|---|---|
| pon5142-sup-0001-Online Supplemental Figure 1.docxWord 2007 document , 97.8 KB | Figure S1. Correlation in Montpellier oncogenetic center between the number of targeted tests declared by probands and that checked by the corresponding laboratory (N = 51). |
| pon5142-sup-0001-Online Supplemental Table 1.docxWord 2007 document , 15 KB |
Table S1. Proband factors associated with intrafamilial disclosure and uptake of GTT on univariate and multivariable analysis. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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