BRCA1/2

ENIGMA/BRCA Exchange Validation: The two-stage pattern holds on BRCA1/BRCA2

Cross-referencing 10,699 SNVs from BRCA1/BRCA2 via the ENIGMA consortium's clinical assertions revealed the same two-stage pattern as the ClinGen study: variants shared across primates are clearable as benign; pathogenic variants are absent from the primate database.

BRCA1 and BRCA2 — among the most clinically important and thoroughly studied gene pairs in human genetics, central to hereditary breast and ovarian cancer risk.
The finding

10,699 BRCA1/BRCA2 SNVs tested. Variants shared with primates: clearable as benign. Pathogenic variants: absent from the primate database.

01
10,699
SNVs from BRCA1/BRCA2 tested via ENIGMA consortium clinical assertions
02
2
of the most clinically important and thoroughly studied genes in human genetics
03
The study

The evidence at a glance.

{{name}} results figure

[needs caption once figure is chosen]

Run this kind of analysis on your own gene of interest.

The CodeXome platform lets you browse residue-level evolutionary evidence across 55 primate genera, live in your browser. No signup for the Gene Previewer.

Request accesstry the previewer