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[GENOTYPE-PHENOTYPE CORRELATIONS BY SPECIFIC FOUNDER VARIANTS IN BRCA IN ISRAELI WOMEN].

Harefuah - 1 Jun 2023

Michaelson-Cohen Rachel, Laitman Yael, Kedar Inbal, Baris-Feldman Hagit, Reish Orit, Lieberman Sari, Bernstein-Molho Rinat, Goldberg Yael, Reznick Levi Gili, Gershoni Ruth, Beller Uzi, Levy-Lahad Ephrat, Catan Raphael, Friedman Eitan

Abstract excerpt

INTRODUCTION: Hereditary breast and ovarian cancer (HBOC) is predominantly accounted for by pathogenic variants (PVs) in BRCA1/BRCA2 genes. Population screening for recurring PVs in Ashkenazi Jews (AJ) was incorporated into the Israeli health basket in 2020, increasing the identification of BRCA carriers. Information on cancer risks for each PV in Israel is limited. AIMS: To assess genotype phenotype correlations...

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PMID: 37394440

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