Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

Purpose BRCA1/2 founder pathogenic variants (PVs) occur in various populations, but data on the mutational spectrum in Africans are limited. We examined BRCA1/2 PVs in breast cancer patients of Ethiopian Jewish (EJ) origin. Methods We retrospectively analyzed BRCA1/2 test results and clinical featur...

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Veröffentlicht in:	Breast cancer research and treatment 2022-05, Vol.193 (1), p.217-224
Hauptverfasser:	Lieberman, S., Chen-Shtoyerman, R., Levi, Z., Shkedi-Rafid, S., Zuckerman, S., Bernstein-Molho, R., Levi, G. Reznick, Shachar, S. S., Flugelman, A., Libman, V., Kedar, I., Naftaly-Nathan, S., Lagovsky, I., Peretz, T., Karminsky, N., Carmi, S., Levy-Lahad, E., Goldberg, Y.
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis BRCA1 protein BRCA1 Protein - genetics BRCA2 protein BRCA2 Protein - genetics Breast cancer Breast Neoplasms - epidemiology Breast Neoplasms - genetics Cancer research Epidemiology Ethiopia - epidemiology Ethylenediaminetetraacetic acid Female Founder Effect Genetic Predisposition to Disease Health aspects Health maintenance organizations Heterozygotes Humans Invasiveness Jews Jews - genetics Male Medicine Medicine & Public Health Morbidity Oncology Ovarian Neoplasms - epidemiology Patients Retrospective Studies Tumors Women
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