A high frequency of PALB2 mutations in Jamaican patients with breast cancer.

PURPOSE: Jamaica is an island nation with one of the highest breast cancer incidence rates in the Caribbean (40/100,000 per year). The contribution of cancer susceptibility gene mutations to the burden of breast cancer in Jamaica has not yet been explored. We sought to determine the prevalence of germline mutations in BRCA1, BRCA2, and PALB2 in 179 unselected Jamaican women with breast cancer. METHODS: We sequenced the entire coding regions of BRCA1, BRCA2, and PALB2 for all the study subjects. RESULTS: Overall, 8 of 179 patients (4.5%) had a mutation in one of the three genes: one in BRCA1, two in BRCA2, and five in PALB2. CONCLUSIONS: These data suggest that in addition to BRCA1 and BRCA2, PALB2 should be included in genetic testing for breast cancer patients in Jamaica.

Reproductive Risk Factor Patterns in Caribbean Women With Breast Cancer Across 4 Generations.

Importance: Breast cancer (BC) is commonly diagnosed among Caribbean women. Shifts in reproductive patterns modify the incidence of BC diagnosis and age at BC diagnosis in population-based studies; however, reproductive patterns in Caribbean women remain understudied. Objective: To describe the temporal trends in reproductive patterns and age at BC diagnosis in Caribbean-born women. Design, Setting, and Participants: A cross-sectional observational study-the Caribbean Women's Cancer Study-was conducted, with data on reproductive patterns known to affect BC risk collected in The Bahamas, Barbados, Cayman Islands, Dominica, Haiti, Jamaica, and Trinidad and Tobago. Participants were recruited prospectively. The sample included women born in Caribbean countries and diagnosed with invasive BC and/or ovarian cancer from June 1, 2010, to June 30, 2018, and was divided into 4 birth cohorts (born before 1950, 1950-1959, 1960-1969, and in or after 1970). Data were analyzed between August 1, 2023, and July 31, 2024. Exposures: Receipt of a BC diagnosis and birth in a Caribbean country. Main Outcomes and Measures: Change in reproductive patterns between birth cohorts, including age at BC diagnosis, family history of cancer, age at first pregnancy, number of pregnancies, number of full-term pregnancies, number of siblings, age at menarche and menopause, estrogen receptor status, and germline pathogenic/likely pathogenic variants. Results: Of 1015 participants diagnosed with BC and ovarian cancer, 995 women (mean [SD] age, 46.6 [10.8] years; 605 [81.8%] Afro-Caribbean, 98 [13.2%] East Indian, 22 [3.0%] White, and 12 [1.6%] >1 race) received a diagnosis of invasive BC. Comparison from older to younger birth cohorts (presented in the order of born before 1950, 1950-1959, 1960-1969 and in or after 1970) showed an increased proportion of women experiencing menarche at age 12 years or younger (33.0% vs 47.3% vs 45.5% vs 57.9%; P < .001), women with no pregnancies (6.8% vs 6.8% vs 10.5% vs 22.8%; P < .001), and nulliparous women (8.6% vs 9.2% vs 13.9% vs 27.6%; P < .001). Younger age at BC diagnosis was observed in women experiencing menarche at age 12 years or younger (mean [SD], 45.0 [10.5] years) vs 15 years or older (mean [SD], 49.1 [11.2] years) and in nulliparous women (mean [SD], 42.1 [11.2] years) vs 3 or more full-term pregnancies (mean [SD], 49.9 [10.6] years; P < .001). For every year of first pregnancy delay, women had a 4% increased chance of being diagnosed with estrogen receptor-positive tumors (odds ratio, 1.04; 95% CI, 1.01-1.08; P = .02). Conclusions and Relevance: In this cross-sectional study, between each 10-year birth cohort, women diagnosed with BC had a lower age at menarche, number of pregnancies, and number of full-term pregnancies. These findings suggest that interventions targeting other BC risk factors need to be implemented.

The in vitro effect of delta-9-tetrahydrocannabinol and cannabidiol on whole blood viscosity, elasticity and membrane integrity.

BACKGROUND: The main biological activities of cannabis are due to the presence of several compounds known as cannabinoids. Delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) are two of the main cannabinoids. Studies have shown that the effects of THC can be modulated by CBD. OBJECTIVE: This study aims to look at the effect of different concentrations of THC and CBD separately and in combination, on blood viscosity, elasticity and membrane integrity. METHODS: Blood samples were collected from twenty-four healthy adult non-smokers. Blood viscosity and elasticity were determined using the Vilastic Scientific Bioprofiler for different concentrations (0, 2.5, 25, 50 and 100 ng/ml) of CBD and THC respectively, as well as in extracts with combinations of CBD and THC in 4:1 and 1:1 ratios respectively. Repeated measures analysis of variance (ANOVA) was used to determine the difference between the means of the groups. RESULTS: Blood viscosity increased significantly with increasing concentrations of both THC and CBD from 25 ng/ml up to 100 ng/ml ranging from 6.45 ± 0.36 mPa·s to 11.60 ± 1.12 mPa·s for THC and ranging from 5.46 ± 0.24 mPa·s to 9.91 ± 1.10 mPa·s for CBD respectively, being more pronounced in the extracts at 21.33 ± 2.17 mPa·s for the 4THC:1CBD extract and 21.76 ± 1.88 mPa·s for the 1THC:1CBD extract. There was no significant increase in elasticity for THC and CBD separately. However, a significant increase in elasticity was observed in the extracts. THC and CBD affected red cell morphology resulting in complete disintegration at the highest concentrations. CONCLUSIONS: THC and CBD increased red blood cell viscosity and elasticity separately and in combination. They also adversely affected membrane integrity.

The Utilization and Benefits of Telehealth Services by Health Care Professionals Managing Breast Cancer Patients during the COVID-19 Pandemic.

Telehealth is the delivery of many health care services and technologies to individuals at different geographical areas and is categorized as asynchronously or synchronously. The coronavirus disease 2019 (COVID-19) pandemic has caused major disruptions in health care delivery to breast cancer (BCa) patients and there is increasing demand for telehealth services. Globally, telehealth has become an essential means of communication between patient and health care provider. The application of telehealth to the treatment of BCa patients is evolving and increasingly research has demonstrated its feasibility and effectiveness in improving clinical, psychological and social outcomes. Two areas of telehealth that have significantly grown in the past decade and particularly since the beginning of the COVID-19 pandemic are telerehabilitation and teleoncology. These two technological systems provide opportunities at every stage of the cancer care continuum for BCa patients. We conducted a literature review that examined the use of telehealth services via its various modes of delivery among BCa patients particularly in areas of screening, diagnosis, treatment modalities, as well as satisfaction among patients and health care professionals. The advantages of telehealth models of service and delivery challenges to patients in remote areas are discussed.

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

Importance: Rates of breast and ovarian cancer are high in the Caribbean; however, to date, few published data quantify the prevalence of inherited cancer in the Caribbean population. Objective: To determine whether deleterious variants in genes that characterize the hereditary breast and ovarian cancer syndrome are associated with the development of breast and ovarian cancer in the English- and Creole-speaking Caribbean populations. Design, Setting, and Participants: This multisite genetic association study used data from germline genetic test results between June 2010 and June 2018 in the Bahamas, Cayman Islands, Barbados, Dominica, Jamaica, Haiti, and Trinidad and Tobago. Next-generation sequencing on a panel of 30 genes and multiplex ligation-dependent probe amplification (BRCA1 and BRCA2) were performed. Medical records were reviewed at time of study enrollment. Women and men diagnosed with breast and ovarian cancer with at least 1 grandparent born in the participating study sites were included; 1018 individuals were eligible and consented to participate in this study. Data were analyzed from November 4, 2019, to May 6, 2020. Exposures: Breast and/or ovarian cancer diagnosis. Main Outcomes and Measures: Rate of inherited breast and ovarian cancer syndrome and spectrum and types of variants. Results: Of 1018 participants, 999 (98.1%) had breast cancer (mean [SD] age, 46.6 [10.8] years) and 21 (2.1%) had ovarian cancer (mean [SD] age, 47.6 [13.5] years). Three individuals declined to have their results reported. A total of 144 of 1015 (14.2%) had a pathogenic or likely pathogenic (P/LP) variant in a hereditary breast and ovarian cancer syndrome gene. A total of 64% of variant carriers had P/LP variant in BRCA1, 23% in BRCA2, 9% in PALB2 and 4% in RAD51C, CHEK2, ATM, STK11 and NBN. The mean (SD) age of variant carriers was 40.7 (9.2) compared with 47.5 (10.7) years in noncarriers. Individuals in the Bahamas had the highest proportion of hereditary breast and ovarian cancer (23%), followed by Barbados (17.9%), Trinidad (12%), Dominica (8.8%), Haiti (6.7%), Cayman Islands (6.3%), and Jamaica (4.9%). In Caribbean-born women and men with breast cancer, having a first- or second-degree family member with breast cancer was associated with having any BRCA1 or BRCA2 germline variant (odds ratio, 1.58; 95% CI, 1.24-2.01; P < .001). A BRCA1 vs BRCA2 variant was more strongly associated with triple negative breast cancer (odds ratio, 6.33; 95% CI, 2.05-19.54; P = .001). Conclusions and Relevance: In this study, among Caribbean-born individuals with breast and ovarian cancer, 1 in 7 had hereditary breast and ovarian cancer. The proportion of hereditary breast and ovarian cancer varied by island and ranged from 23% in the Bahamas to 4.9% in Jamaica. Each island had a distinctive set of variants.