Breast cancer-associated gene 1/2 mutations are not associated with risk of exudative age-related macular degeneration in Ashkenazi Jews

Objective: The objective of the study was to determine whether breast cancer-associated gene (BRCA1/2) mutations are associated with wet age-related macular degeneration (AMD), together with other risk factors of older age and impaired DNA repair. In addition, role oiRADSlB in the BRCA pathway was a...

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Published in:CLEVER Clinical and Experimental Vision and Eye Research 2020-07, Vol.3 (2), p.13-16
Main Authors: Weiss, Shirel, Azab, Mohammed, Zahavi, Alon, Tessler-Betzalel, Gili, Axer-Siegel, Ruth, Cohen, Yoram, Goldenberg-Cohen, Nitza
Format: Article
Language:English
Subjects:
Age
Breast cancer
Cell cycle
DNA damage
DNA repair
Females
Genes
Health risk assessment
Jewish people
Macular degeneration
Males
Mutation
Ovarian cancer
Pathogenesis
Retina
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Summary:Objective: The objective of the study was to determine whether breast cancer-associated gene (BRCA1/2) mutations are associated with wet age-related macular degeneration (AMD), together with other risk factors of older age and impaired DNA repair. In addition, role oiRADSlB in the BRCA pathway was also investigated. Design: This was a prospective, hospital-based study. Participants: Ninety-four patients (26 male/26 female Ashkenazi Jews and 24 male/18 female non-Ashkenazi Jews) with a clinical diagnosis of wet AMD. Methods: Genomic DNA was extracted and tested formutations in BRCA1 (c.5382insC and 185delAG) and BRCA2 (c.6174delT). RAD51B analysis for rs17105278, rs4902566, and rs8017304 was performed using single-nucleotide polymorphisms (SNP) genotyping analysis. The results were validated by direct sequencing. Results: No BRCA1 mutations were found in the Ashkenazi or non-Ashkenazi Jews, and only one Ashkenazi Jew (1.92%) carried the BRCA2 mutation. In the RAD51B SNP analysis, the Ashkenazi Jews showed 1.75-fold higher frequency in rs17105278 and 1.43-fold lower frequency of rs4902566 SNP than the non-Ashkenazi group, and no difference in rs8017304. Conclusions: Ashkenazi Jews with wet ARMD did not show a higher rate of BRCA1/2 mutations than the general population (
ISSN:2581-656X
DOI:10.15713/ins.clever.5O