Cancer worry at higher-risk sample of hereditary cancer in Spain.

BACKGROUND: Few studies have examined the prevalence of cancer worry in the general and at-risk population. The objective of this study was to describe the prevalence of cancer worry in a sample of individuals at increased risk of developing hereditary cancer, determine differences in cancer worry by socio-demographic characteristics and assess the relationship between cancer worry and psychological distress. METHODS: A cross-sectional study was designed with 895 patients. The Cancer Worry Scale (CWS), Hospital Anxiety and Depression Scale (HADS) for psychological distress and sociodemographic characteristics were examined. The multiple linear regression model was developed to explore what variables were predicted for cancer worry. To identify variables associated with higher cancer worry scores, a logistic model was fitted. RESULTS: In the at-higher-risk sample of hereditary cancer, the mean of CWS was 10.20 (SD: 3.70). The significant predictors for cancer worry were gender, age, previous psychiatric treatment, patients affected by cancer and having children. In the sample, 38% of patients had higher scores on cancer worry, the variables associated were patients affected by cancer compared, women, widow/divorced participants, less than secondary school, patients with previous psychiatric treatment and patients less than 55 years old. Using the HADS cutoff score 29% of the sample showed significant psychological distress, more anxiety (35%) than depressive (22%) symptomatology. Psychological distress showed a higher variability (36%) on cancer worry. CONCLUSION: Findings highlighted distinctive profiles in socio-demographic characteristics according to the degree of cancer worry; therefore, genetic counseling should continue to be provided to address cancer worry and relieve psychological distress.

Comparison of psychological distress for breast, ovarian and colorectal cancer predisposition in a Spanish sample at high risk of hereditary cancer.

OBJECTIVES: Although future treatments may speciically target the tumour phenotype, other factors should be included to confirm the efficacy of treatment and prevention strategies. The objective of this study was to compare sociodemographic characteristics and psychological distress for breast, ovarian and colorectal cancer predisposition syndrome in a sample at high risk of hereditary cancer. METHODS: A cross-sectional study was designed with 799 patients. The nonparametric test, with Kruskal-Wallis test, was used to compare three genetic cancer syndromes, with significant differences in sample size. RESULTS: There were no differences in cancer hereditary syndromes related to sociodemographic characteristics except sex, as breast/ovarian cancer mainly affects women. No group differences were observed for cancer worry (P = 0.17). Breast/ovarian cancer syndrome showed significantly higher scores in cognitive distress compared to colorectal cancer (P = 0.01). CONCLUSION: The differences in the distribution of sociodemographic characteristics in these hereditary cancer syndromes can help to better plan resources for patient care in genetic counselling units.

Psychiatric symptoms in a Spanish sample with hereditary cancer risk.

OBJECTIVE: An integral part of the genetic counselling process is the assessment of psychiatric morbidity. The objectives of this study were first to assess psychometric properties of the General Health Questionnaire (GHQ-28items) in a Spanish sample at increased risk of hereditary cancer, and second evaluated the prevalence of psychiatric morbidity and the contribution of socio-demographic and clinical characteristics to predict distress. METHODS: A cross-sectional study was designed with 766 patients. Psychometric analysis with exploratory factor analysis was performed. The influences of socio-demographic characteristics were investigated by multiple linear regression analyses. RESULTS: Factor analysis supported the four-factor solution of the original GHQ-28; Depression and Social dysfunction scales were more stable than Anxiety and Somatic symptom scales. Psychiatric morbidity was detected in 212 (27.9%) patients. The variables predicting psychiatric morbidity were gender, age, patient affected by cancer, previous psychiatric treatment, and patients with relatives affected by cancer. The higher prevalence of psychiatric symptoms was in the age group from 41 to 59 years (16.73%), women (24.37%), patients affected by cancer (19.89%), patients without previous psychiatric treatment (20.82%), and patients with relatives affected by cancer (21.74%). CONCLUSION: Screening psychological distress should consider socio-demographic and clinical characteristics with reference to improve the quality of care. TRIAL REGISTRATION: Clinical trials identifier: NCT04428710.

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

(1) Background: Over the last decade, genetic counseling clinics have moved from single-gene sequencing to multigene panel sequencing. Multiple genes related to a moderate risk of breast cancer (BC) have emerged, although many questions remain regarding the risks and clinical features associated with these genes. (2) Methods: Ninety-six BC index cases (ICs) with high-risk features for hereditary breast and ovarian cancer (HBOC) and with a previous uninformative result for BRCA1/2 were tested with a panel of 41 genes associated with BC risk. The frequency of pathogenic variants (PVs) was related to the clinical characteristics of BC. (3) Results: We detected a PV rate of 13.5% (excluding two cases each of BRCA1 and MUTYH). Among the 95 assessed cases, 17 PVs were identified in 16 ICs, as follows: BRCA1 (n = 2), CHEK2 (n = 3), ATM (n = 5), MUTYH (n = 2), TP53 (n = 2), BRIP1 (n = 1), CASP8 (n = 1), and MSH2 (n = 1). We also identified a novel loss-of-function variant in CASP8, a candidate gene for increased BC risk. There was no evidence that the clinical characteristics of BC might be related to a higher chance of identifying a PV. (4) Conclusions: In our cohort, which was enriched with families with a high number of BC cases, a high proportion of mutations in ATM and CHEK2 were identified. The clinical characteristics of BC associated with moderate-risk genes were different from those related to BRCA1/2 genes.

Orbital and myocardial metastases of a primary pulmonary melanotic schwannoma.

We present the case of a 60-year-old man with a primary pulmonary melanotic schwannoma treated with surgery and who developed an orbital and myocardial relapse 2 years after the initial diagnosis. Melanotic schwannomas are rare pigmented tumours that tend to arise from the peripheral nerves near the midline. A primary lung presentation, as in our case, is extremely rare. In more than half of cases, the Carney triad of myxomas of the heart, skin and breast, spotty pigmentation and endocrine hyperactivity is present. A thorough pathological study is pivotal for a correct diagnosis. The main differential diagnosis is with metastases of malignant melanoma. The biological behaviour is unpredictable. Treatment should include radical surgery if possible; the role of chemotherapy and radiotherapy is uncertain due to the rarity of the tumour.