Joana Parreira

Men seeking counselling in a Breast Cancer Risk Evaluation Clinic

Background Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include new cancer diagnoses during prospective follow up. Results From 4,320 families registered, 362 male patients were identified: 236 (65.2%) from hereditary cancer families (HCF) and 126 (34.8%) from non-HCF. In HCF, 121 patients (51.3%) were mutation carriers (MC): BRCA2 – 102 (84.3%), BRCA1 – 16 (13.2%), CHEK2 – 1 (0.8%) and TP53 – 2 (1.7%). Non-HCF included 126 patients: 85 (67.5%) belonged to families without pathogenic mutations or with variants of unknown clinical significance; 22 (17.5%) refused testing after counselling and 19 (15.0%) did not meet criteria for testing. Both HCF and non-HCF included patients with previous cancer diagnoses: HCF- Breast Cancer (BC) - 18; prostate cancer (PC) - 13; melanoma - 1; others - 7) and non-HCF (BC - 77; PC - 20; gastric cancer (GC) - 1; melanoma - 8; bladder cancer - 1; others - 22). From the 121 MC identified (including the TP53 and CHEK2 carriers), 97 patients (80.2%) adhered to prospective surveillance. With a median follow-up of 36.9 months, 17 cancers were diagnosed in 14 patients, PC being the most frequently diagnosed neoplasia (5 cases). Eleven patients (78.6%) are alive and three patients died of advanced cancer (2 with GC, 1 with disseminated adenocarcinoma). Conclusion We observed a high adherence to counselling, genetic testing and active surveillance by men belonging to hereditary BC families. Male carriers of pathogenic DNA variants are at risk for several cancers and should be included in prospective follow-up studies.

Abstract P4-12-14: Distress as a measure of the psychological impact after disclosure of a BRCA1/2 positive test result

Introduction and objectives- A positive result after BRCA1/2 screening can represent a difficult psychological experience. Previous studies have shown that the psychological outcomes following BRCA1/2 testing vary according to the previous individual and family experiences of each person. Objectives of this study were to measure the distress caused by the disclosure of a positive BRCA1/2 test result and to analyse the degree of BRCA1/2 carriers retention of information, transmitted at the post-test counselling interview. Material and Methods-This is a prospective study. All consecutive individuals with a BRCA1/2 positive test were invited to participate, after the post-test counselling visit. Participation involved signing an informed consent form and agreeing to a structured post-test phone interview, one week and one month after disclosure of the test result. Phone interviews were done by nurses trained by the Psychological Unit of our centre. Measure instruments: 1) Emotional thermometer (ET) - analogical scale ranging from 0 (no distress) to 10 (maximum distress), measures distress during the previous week 2) Distress questionnaire (DQ)- 13 items to evaluate depression, anxiety and loss of emotional control, with a global score ranging from 3 (no distress) and 45 (maximum distress). 3) Knowledge of disease status and understanding of the individualized risk management plan- additional 4 items included at the end of DQ. Subgroup analysis was performed according to age, sex, previous cancer diagnosis and offspring existence using Wilcoxon rank sum test with continuity correction. Results-From 177 eligible carriers, 28 were not included (14 for logistical reasons; 2 deaths; 1 refused; 3 progressive symptomatic disease ). A total of 149 carriers were included: 120 women (81%) and 29 men (19%); median age 43 yrs (21-74); 67 (45%) with a previous cancer diagnosis and 82 (55%) healthy at risk; 42 (28%) had no offspring and 102 (68%) were professionally active. The mean distress scores were 3.07 (SD 2.72) and 20.13 (SD 7.88) for ET and DQ instruments, respectively. Using the NCCN (2013) guidelines for ET classification, we found that 95 (64%) of our carriers did not have clinically significant distress. For the DQ (using a cut-off Subgroup analysis: A statistically significant difference was found with both ET and DQ for higher distress levels in women than men (p=0.006 and p than 50yrs), previous cancer diagnosis or with vs no offspring. Levels of knowledge and understanding of individual risk management were high (average 18.7; maximum 20) and no correlation was found with distress levels. Twenty-eight (19%) carriers were found in need of specialized psychological/psychiatric support and were appropriately referred. Conclusions-In our BRCA1/2 carrier population clinically significant distress was not frequent and only 19% needed specialized psychological/psychiatric support. Distress was higher in women than in men. Retention of information given during counselling was high, and there was no correlation between information retention and distress levels. Citation Format: Joana Parreira, Susana Esteves, Fatima Vaz, Carla Simoes, Paula Rodrigues, Ana Luis, Ana Clara, Sandra Bento, Maria Jesus Moura. Distress as a measure of the psychological impact after disclosure of a BRCA1/2 positive test result [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P4-12-14.

Monoclonal Gammopathies of Indetermined Significance: Diagnosis and Clinical Follow-up Guidelines

The Portuguese group of multiple myeloma of the Portuguese Society of Hematology proposes a national protocol for diagnosis and clinical follow-up of monoclonal gammopathies. The proposed protocol aims to standardize clinical management of monoclonal gammopathies. Furthermore, it would also define the major risk factors for progression to Multiple Myeloma that require a precocious close articulation between general practitioners and a Hematology Clinic.