Mood state profile and coping strategies after BRCA-1/2 genetic test disclosure: a retrospective study in Italy

Abstract

Currently, 5-10% of all breast cancers are estimated to be hereditary, and a proportion of them are attributable to mutations in several highly penetrant susceptibility genes, including BRCA1/2 [1-3]. Availability of genetic testing for BRCA1/2 gene mutations has stimulated the need to thoroughly analyze the psychological impact of the genetic information in families with hereditary breast and/or ovarian cancers. In particular, the individual increased risk for these tumors and the possibility of transmission of the predisposing mutation to the offspring suggested that disclosure of a BRCA1/2 genetic test results could be an emotionally relevant event, associated with different coping behaviors.With the aim of surveying the actual need for psychological support in individuals with familial predisposition to breast/ovarian cancer, we have investigated the major emotional states and coping strategies of subjects getting the results of BRCA1/2 genetic test. We chose the profile of emotional states as a dependent variable as it was considered a more comprehensive measure than the "emotional distress" (i.e., it records states of anger and confusion, beyond anxiety and depression) commonly employed in oncological settings, whereas coping strategies are indirect indicators of resourceful adjustment.The enrolled sample included 91 subjects (93.1% females) with a median age of 50 years (range, 21-74 years). The majority of our sample was married (70.8%), had at least one child (67.8%), and a postcompulsory education level (above 8 years of schooling, 55.8%). Regarding genetic status, 78.7% of participants were probands (i.e., patients with breast or ovarian cancer who initiated a counseling process for their family) whereas 21.3% were non-probands (i.e., relatives of a proband); of whom, 19.8% had the genetic diagnosis of carrier, 68.1% of non-carrier, and 11.1% carried an unclassified variant. Among the probands (N=71), 63.6% were under treatment whereas 36.4% were cancer survivors (i.e., at least 5 years since cancer diagnosis).

BRCA1/2 pathogenetic variant carriers and reproductive decisions: Gender differences and factors associated with the choice of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND)

“…For several years, 5/10% of cancer are estimated as hereditary and are accountable to mutations in susceptibility genes [ 1 ]. A mutation to BRCA 1 and 2 genes, which are considered important tumor suppressor genes, is a factor leading to hereditary breast and ovarian cancer syndrome (HBCD) [ 2 ].…”

Psychological care program for participants of cancer genetic counseling with high risk of breast and ovarian cancer

“…In addition, CGC coordinates the communication between several professionals to provide comprehensive care to the participants and their families 4 , including emotional support by a psychologist 4,5 . Emotional reactions are diverse in CGC participants: stress, fear, worries, anger, frustration, anxiety, guilt, loneliness 6,7 , and hostility 8 .…”