Fig. 1: Clinical validity classifications of candidate susceptibility genes associated with syndromic or familial breast and ovarian cancer | Genetics in Medicine

Fig. 1: Clinical validity classifications of candidate susceptibility genes associated with syndromic or familial breast and ovarian cancer

From: Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Fig. 1

(a) Clinical validity classifications of 31 gene–disease pairs associated with syndromic or familial breast cancer susceptibility. Consensus genetic and experimental evidence scores are depicted for each gene–disease relationship wherein a Limited preliminary classification scored 0.1–6 total points, a Moderate preliminary classification had 7–11 total points, a Strong preliminary classification scored 12–18 total points, and a Definitive classification scored 12–18 total points and achieved replication over time (indicated by r/t). (b) Clinical validity classifications of 32 gene–disease pairs associated with syndromic or familial ovarian cancer susceptibility.

Back to article page