title: Reproductive Decision-Making in MMR Mutation Carriers After Results Disclosure: Impact of Psychological Status in Childbearing Options.
abstract: Reproductive techniques such as prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), although debated, are legally forbidden in France in case of Lynch syndrome. The preference of mutation carriers about their reproductive options is not systematically considered in France. We aimed to prospectively assess the reproductive preferences of mismatch repair mutation carriers consulting in our institution (2003-2010, n = 100). We also considered the short- and long-term post-disclosure psychological impact using the Impact of Events Scale-Revised questionnaire to measure the prevalence of posttraumatic stress disorder (PTSD) in those patients. Complete data were obtained for 34 respondents (17 males, 17 females, median age of 33.5 years [22-59]). Seventeen respondents (57 %) preferred spontaneous natural conception versus 28 % and 35 % choosing PND and PGD, respectively. At results disclosure, respondents mainly explained their distress by fear of premature death (43 %) and transmitting mutated genes (42 %). One year later, this last fear remained predominant in 55 % of subjects. None of the main socio-demographical, psychological or medical variables (including fear of transmitting mutations) was significantly associated with the reproductive preferences. Results disclosure had a real and time-decreasing psychological impact on mutation carriers. Reproductive techniques, expected to decrease the hereditary risk, were not significantly preferred to natural conception.
authors.affiliation: Genetic Oncology Department, Institut régional du Cancer de Montpellier (ICM), Montpellier, France. jacqueline.duffour@icm.unicancer.fr.|Institut régional du Cancer de Montpellier (ICM) - Val d'Aurelle,, 208 Avenue des Apothicaires, 34298, Montpellier Cedex 5, France. jacqueline.duffour@icm.unicancer.fr.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Duffour
authors.affiliation: Genetic Oncology Department, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.|Genetic Oncology Department, Arnaud de Villeneuve University Hospital, CHU Montpellier, Montpellier, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Combes
authors.affiliation: Translational Research Unit, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Evelyne
authors.initials: E
authors.lastname: Crapez
authors.affiliation: Department of Pathology, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Boissière-Michot
authors.affiliation: Department of Pathology, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Bibeau
authors.affiliation: Department of Clinical Nutrition and Gastroenterology, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Senesse
authors.affiliation: Department of Digestive Oncology, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Ychou
authors.affiliation: Department of Clinical Research, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Courraud
authors.affiliation: Department of Clinical Research, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: de Forges
authors.affiliation: Biostatistics Department, Institut régional du Cancer de Montpellier (ICM), Montpellier, France.
authors.forename: Lise
authors.initials: L
authors.lastname: Roca
mesh_terms: D000328:Adult; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000523:psychology*; D053843:DNA Mismatch Repair; D003657:Decision Making; D030881:Disclosure; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis / Q000523:psychology; D012098:Reproduction; D013313:Stress Disorders, Post-Traumatic / Q000523:psychology; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Colorectal neoplasms; Genetic carrier detection; Hereditary non-polyposis; Mutation; Post-traumatic stress disorders; Preimplantation genetic diagnosis; Prenatal diagnosis