Relevance of the common-sense model for people living with a genetic predisposition for breast and ovarian cancer.

Objectives: BRCA1/2 pathogenic variants have been associated with an increased risk for breast, ovarian, pancreatic, prostate cancer as well as melanoma. The present research uses the Leventhal's common-sense model of self-regulation (CSM), a theoretical framework highlighting the role of mental representations on responses to a health-threat. We aim at understanding the personal meaning and representation of living with an hereditary breast and ovarian cancer predisposition.

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

Nail-Patella syndrome (NPS) is a genetic disorder generating physical malformations and, in approximately one in three cases, ocular and renal damage. The present research aimed to deeply understand patients' subjective experience with NPS, particularly the aspects of the syndrome that affect patients' adaptation and to propose interventions that can improve genetic and psychological counseling and help patients cope with their condition. Semi-structured interviews of nine people diagnosed with NPS were analyzed using interpretative phenomenological analysis.