Missing
ethnic information in current BRCA variant databases
Zixin Qin, San Ming Wang
To the Editor,
BRCA mutation substantially increases risk of breast and ovarian
cancer.
Extensive
efforts have identified large quantities of human BRCA1 andBRCA2 (BRCA ) variants, and the data have been developed
into multiple BRCA variant reference databases to guide clinical
applications worldwide. Human BRCA genes are rapidly evolving
(Huttley et al, 2000; Lou et al, 2014). This is reflected by the highly
ethnic-specific nature of human BRCA variation (Rebbeck et al,
2018; Kwong et al, 2016; Bhaskaran et al, 2019). For example,BRCA variation in Africans is substantially different from
non-Africans that nearly 90% of BRCA variants in Africans were
not present in non-Africans (Figure 1) (Shen et al, 2000; John et al,
2007; Churpek et al, 2015; Zheng et al, 2018; Fiebel et al, 2019).
Ethnic-specificBRCA variation is important for understanding the evolution of
human BRCA , genetic basis of BRCA variation and cancer,
and for using ethnic-based variation information for precise diagnosis,
prevention and treatment of BRCA related cancer in diversified
ethnic populations.
To understand current knowledge of ethnic-specific BRCAvariation, we analyzed the ethnic information in the major BRCAdatabases including
BRCA
Exchange, ClinVar, ENIGMA, LOVD, BIC, BRCA-share and ARUP. The results
show that except BIC, the current BRCA databases basically do not
provide ethnic information for their collected BRCA variants
(Figure 1B). The reason for lack of ethnic information in current BRCA
databases can be that submitters do not provide the ethnic information
as considered it unnecessary. This needs to be changed by the increased
evidence in ethnic-specific BRCA variation and its relevant in
cancer application. Another reason can be that ethnic origin is
classified as private information being protected by law, therefore,
both submitters and database curators don’t want to include ethnic
information. However, the BRCA data in public BRCAdatabases are all anonymous such that ethnic information is not relevant
to privacy issue.
We believe that the ethnic information needs to be included in current
BRCA variant databases to benefit clinical applications.