title: [Having a child and PND/PGD access in women with a BRCA1/2 mutation? Different approach whether ill or healthy].
abstract: Genetic tests in families with a mutation related to breast and ovarian cancers (BRCA1/2) are now offered to the persons before completion of their reproductive project. The aim of this qualitative study was to descriptively explore how the issues of reproduction are faced in women belonging to these families, and how the possible use of prenatal diagnostic (PND) and preimplantation genetic diagnosis (PGD) would be faced in a theoretical context. We conducted in-depth interviews, face to face, according to the so-called Grounded Theory approach. Twenty women with a BRCA genetic mutation participated in the study (age range: 31-57 years); 12 have had a breast and/or ovarian cancer. The knowledge of having the mutation did not modify the parental project; however prophylactic anexectomy was likely to alter it in some women. If the majority of women were in favor of PGD (n = 14), medical termination of pregnancy was a constraint towards the position in relation to PND. Besides ethical and moral arguments, the women's attitudes were constructed differently according to their own personal or familial experience of the disease. The women's perceptions of the cancer severity, risk and cure were organized according to this experience.
authors.affiliation: Inserm, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, Aix-Marseille Université, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, IRD, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Pellegrini
authors.affiliation: Institut Paoli-Calmettes, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France.
authors.forename: Niki
authors.initials: N
authors.lastname: Prodromou
authors.affiliation: CHU Montpellier, Hôpital Arnaud de Villeneuve, Service de Génétique, 371, avenue Doyen-Gaston-Giraud, 34295 Montpellier cedex 05, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Coupier
authors.affiliation: Inserm, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, Aix-Marseille Université, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, IRD, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, Institut Paoli-Calmettes, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, CHU La Réunion, Unité de soutien méthodologique, 97400 Saint-Denis, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Huiart
authors.affiliation: Institut Paoli-Calmettes, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France.
authors.forename: Jessica
authors.initials: J
authors.lastname: Moretta
authors.affiliation: Institut Curie, Hôpital René Huguenin, 35, rue Dailly 92210 Saint-Cloud, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Noguès
authors.affiliation: Inserm, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, Aix-Marseille Université, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, IRD, UMR912, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France, Institut Paoli-Calmettes, 232, boulevard Sainte-Marguerite, 13273 Marseille cedex 09, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Julian-Reynier
mesh_terms: D000029:Abortion, Legal; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000523:psychology* / Q000628:therapy; D003657:Decision Making; D005191:Family Characteristics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D066296:Grounded Theory; D006801:Humans; D008875:Middle Aged; D009014:Morals; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000523:psychology* / Q000628:therapy; D010684:Philosophy; D016742:Preconception Care; D011247:Pregnancy; D065286:Prophylactic Surgical Procedures / Q000523:psychology; D036301:Qualitative Research; D012307:Risk Factors
keywords: BRCA1/2; breast cancer; preimplantation genetic diagnosis; prenatal diagnostic; reproduction