The Inherited Cancer Connect (ICCon) Partnership was established in 2013 and is a multidisciplinary group of clinicians and scientists who are focused on improving the outcomes of people with rare inherited cancer syndromes. The Psychosocial Research Group, UNSW, co-ordinates the psychosocial research program of the ICCon Partnership. ICCon is engaged in several national collaborations, including that with the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA, http://enigmaconsortium.org), a consortium, which investigates the modification of penetrance of BRCA gene mutations and the pathogenicity of BRCA gene variants respectively. ENIGMA aims to determine the likely pathogenicity of unclassified genetic variants (UVs) in known or suspected breast cancer predisposition genes, with a particular focus on genes related to the hereditary breast/ovarian cancer syndrome (HBOC). Over 10% of BRCA mutation tests return a UV result so this is a significant clinical problem. ENIGMA has developed standardised methodology to classify UVs and their clinical working Group is addressing the clinical management of families with UVs. Since the establishment of the ICCon/Enigma collaboration several patients have experienced a re-classification of a previously identified UV into either a less or a more pathogenic variant, and in some cases there are associated changes in risk management for these patients. This qualitative study seeks to assess the psychosocial impact on patients when a reclassification of a previously identified UV occurs. Given the high degree of uncertainty associated with UVs, patients may experience distress as a result of receiving this type of a result and any such distress may be exacerbated if there is a subsequent reclassification of the VU result. In-depth telephone interviews with up to 20 patients will explore patients’ perceptions of receiving VUs and their psychosocial adjustment to experiencing a re-classification of a VU result.
