Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Autor:	Rawashdeh RR; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Pederson H; Genomic Medicine Institute and Center for Personalized Genetic Healthcare, Cleveland Clinic Main Campus, Cleveland, OH., Iskanderian R; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Khan F; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Altrabulsi B; Pathology and Laboratory Medicine Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Ricci S; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Eng C; Genomic Medicine Institute and Center for Personalized Genetic Healthcare, Cleveland Clinic Main Campus, Cleveland, OH., Jallad B; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates., Al Mannaei AI; Department of Health, Abu Dhabi, United Arab Emirates., Alameri MS; Department of Health, Abu Dhabi, United Arab Emirates., Attia A; Clinical Genomics, M42, Abu Dhabi, United Arab Emirates., Grobmyer SR; Oncology Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Jazyk:	angličtina
Zdroj:	JCO global oncology [JCO Glob Oncol] 2024 Nov; Vol. 10, pp. e2400352. Date of Electronic Publication: 2024 Nov 14.
DOI:	10.1200/GO-24-00352
Abstrakt:	Purpose: Breast cancer among Emirati patients is characterized by early-onset disease and later stages at presentation. Little is known about the germline genetic variants that may contribute to these observations. The goal of this study is to characterize the rate and implications of germline genetic variants among a cohort of Emirati patients at risk for hereditary breast and ovarian cancer syndrome. Materials and Methods: A retrospective study was performed to analyze the results of clinical germline genetic testing (March 2020-January 2023) among a cohort of consecutive Emirati patients at risk for hereditary breast and ovarian cancer syndrome: group A: patients with personal history of breast or ovarian cancer (n = 135); group B: unaffected patients with family history of breast or ovarian cancer (n = 37); and group C: patients presenting for cascade testing (n = 20). Management of patients identified to have pathogenic/likely pathogenic (P/LP) variants was analyzed. Results: The rate of P/LP germline variants for each group was: group A: 17.3%, group B: 16.6%, group C: 57.9%. BRCA1 gene was the most commonly identified gene harboring P/LP variants, followed by BRCA2 , among this cohort. Four unrelated patients had a recurrent BRCA1 pathogenic variant: c.4065_4068del (p.Asn1355Lysfs*10). Only two patients in this series elected risk-reducing mastectomy and four patients elected risk-reducing bilateral salpingo-oophorectomy. Conclusion: A higher rate of P/LP variants is seen among Emirati patients at risk for hereditary breast and ovarian cancer syndrome compared with reports of similar patients from Western populations. Efforts to increase utilization and awareness of germline genetic testing are warranted among Emirati patients.
Databáze:	MEDLINE
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