Pathogenic mutations in ethnic Lebanese Arab patients with high risk for hereditary breast cancer

Background: Breast cancer accounts for 35-40% of cancer in women in Lebanese and Arab countries with 50% of patients (pts) diagnosed before age 50. Prevalence of pathogenic BRCA variants in high-risk pts is 5.6-20% (Abulkhair and El Saghir 2021). 7 BRCA1 and 7 BRCA2 pathogenic variants were found in 5.6% of 250 pts with high hereditary risk breast cancer using amplicon sequencing and MLPA (El Saghir 2015;Poulet 2016). We report results of Next Generation Sequencing (NGS) on selected cases based on Manchester Score. First report in ethnic Lebanese Arab pts. Method(s): Pts prospectively enrolled in 2009-2012. IRB approval secured. Pts signed informed consent. Data collected from medical records. Amplicon and MLPA was done on 250 patients. NGS was done on 100 cases with Manchester Score 14-56. DNAs of the 14 pts previously found to have a pathogenic variant (Manchester Score 10-59) were not re-sequenced. NGS on remaining 150 pts was not done due to Covid-19 pandemic and lack of additional funding. Result(s): NGS showed 7 pathogenic variants, 4 in PALB2 and 3 in ATM. No new BRCA variants were found. Two BRCA2 mutations noted by Amplicon/MLPA reported as VUS in 2015 are reclassified as pathogenic. Total BRCA2 pathogenic variants becomes 9. Total pathogenic variants 23. Risk of having hereditary breast cancer in pts with MS 10-59 is 20% (23/ 114), and at least 9.2% in the entire cohort (23/250). Age <=40 with family history (FH) carries 18.9% risk of harboring a pathogenic mutation while no FH, 1.4% (Table 1). All BRCA1 pts had triple negative and 7/9 BRCA2 pts had hormone receptor positive breast cancer. 4 unrelated pts shared the same c.1056_1057delGA PALB2 pathogenic variant thus we suggest this is a founder mutation in Lebanese Ethnic Arab population. Conclusion(s): Mutation rates in high hereditary risk pts with Manchester Score range 10-59 is 20%. Age <=40 with positive FH can be used to select pts for testing when resources are limited. Our data suggests that c.1056_1057delGA is a PALB2 founder mutation. No conflict of interest.Copyright © 2022 Elsevier Ltd. All rights reserved

National approaches to managing cancer care: Responses of countries in the MENA region to COVID-19 pandemic

Background: COVID-19 pandemic presented serious challenge to oncology care due to the associated risks form infection and from disruption of care delivery. Therefore, many professional societies published recommendations to help manage cancer care during the crisis. The objective of our study was to assess the national responses of MENA countries in terms of publishing relevant guidelines and analyse various components of these guidelines. Methods: A survey based on literature review regarding cancer care adaptation was developed then completed by senior oncologists representing the following countries: Algeria, Egypt, Iraq, Jordan, Kuwait, Lebanon, Morocco, Oman, Saudi Arabia, Syria, Tunisia, UAE and Yemen. The survey queried about instructions of the national recommendations regarding (1) general measures of COVID-19 prevention in oncology, (2) cancer care adaptations during the pandemic. Results: Analysis of the guidelines revealed 31 essential recommendations categorized into seven essential components with specific recommendations for each component. These components are patients’ management, health care workers (HCW) management, facility management, testing for COVID-19, measures to reduce hospital visits, measures to reduce complications, and site-specific recommendations. The table showed compliance of these guidelines with having the required components and relevant recommendations. [Formula presented] Conclusions: There is inconsistency in the components of the guidelines across the region, which may reflect the evolving nature of the pandemic and lack of clear evidence for many issues in question. There is a need from clear framework on essential components to be included in the guidelines to assure providing the best guidance to the oncology community. Editorial acknowledgement: On behalf of the International Research Network on COVID-19 Impact on Cancer Care (IRN-CICC). Legal entity responsible for the study: The authors. Funding: Has not received any funding. Disclosure: M.A.M.A. AlNassar: Research grant/Funding (institution): Roche. A. Jazieh: Research grant/Funding (institution): MSD. All other authors have declared no conflicts of interest.