BACKGROUND: Genetic assessment in Ashkenazi Jewish (AJ) patients often is limited to BRCA1/2 founder mutation testing. With access to time-efficient and cost-efficient multigene panel testing, some advocate expanding genetic testing in this population. However, to the best of the authors' knowledge, rates of nonfounder BRCA1/2 mutations and mutations in cancer-associated genes other than BRCA1/2 among AJ are not known. In the current study, the authors sought to assess the prevalence of mutations other than BRCA1/2 founder mutations among AJ patients undergoing genetic assessment. METHODS: The authors reviewed the medical records for all AJ patients who underwent genetic assessment at a single institution between June 2013 and December 2016. Mutations were categorized as 1) BRCA1/2 AJ founder mutations (BRCA1 185delAG, BRCA1 5382insC, or BRCA2 6174delT); 2) nonfounder BRCA1/2 mutations; or 3) mutations in non-BRCA1/2 cancer-associated genes. RESULTS: A total of 732 AJ patients underwent genetic assessment. Of these, 371 patients (51%) had a personal history of breast or ovarian cancer, 540 patients (73.8%) had a family history of breast cancer, and 132 patients (18%) had a family history of ovarian cancer. In the study population, 101 patients (13.8%) were found to have a pathogenic mutation, 78 patients (10.7%) had a BRCA1/2 founder mutation, 3 patients (0.4%) had a nonfounder BRCA1/2 mutation, and 20 patients (2.7%) had a mutation in a non-BRCA1/2 cancer-associated gene. Non-BRCA1/2 cancer-associated genes harboring mutations included RAD51D, TP53, mutS homolog 6 (MSH6), checkpoint kinase 2 (CHEK2), adenomatous polyposis coli (APC), and Fanconi anemia group C protein (FANCC). CONCLUSIONS: Among AJ patients found to have a pathogenic mutation on genetic assessment, approximately 22.8% had a mutation that would be missed with BRCA1/2 AJ founder mutation testing. Comprehensive multigene panel sequencing can provide clinically relevant genetic information for AJ patients and should be considered for genetic assessment in this population. Cancer 2019;125:690-697.
We evaluated sex-related differences in symptoms and risk factors for mortality in 4798 patients hospitalized with Covid-19 in New York City. When adjusted for age and comorbidities, being male was an independent predictor of death with mortality significantly higher than females, even with low SARS-CoV-2 viral load at admission.
Background: Educating medical students to better understand the complexities of cultural competence, the social determinants and environmental determinants of health that are important and integral components of the medical school curriculum.
Methods: In 2014, Weill Cornell Medicine (WCM) implemented a new curriculum, the adoption of which provided the means to enhance an existing global health program, informally introduced in 2009, and to address the issues of cultural competency. In this article, we share WCM’s experience in building and expanding its global health curriculum.
Results: A hallmark of our program is the successful collaboration between students and faculty to create a multi-disciplinary global health program that incorporates electives, clinical field placement, and collaborative research.
Conclusion: Key lessons learned through our experience include the necessity for strong faculty-student collaboration, full support from the administration, and building global partnerships. Our example could be a useful guide for other medical schools seeking to establish a global health education curriculum.
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