Fig. 2: Strength of evidence for associations between candidate susceptibility genes and both familial breast and ovarian cancer

(a) Thirty-one gene–disease pair curations were assessed for their strength of evidence with syndromic and familial breast cancer susceptibility. MUTYH was assessed for autosomal dominant and recessive risk associations, which counted as two separate curations. NF1 was unable to be scored due to lack of genotyping in affected individuals in the literature, which resulted in 31 gene–disease curation pairs. (b) Thirty-two gene–disease pair associations were assessed for ovarian cancer susceptibility. MUTYH was assessed for autosomal dominant and recessive risk associations and NF1 was assessed for familial ovarian cancer susceptibility resulting in 32 gene–disease curation pairs. (c) Displays the number of genes on panels by their highest clinical validity classification to highlight the number of genes with less than Definitive classifications on testing panels. Each gene is represented by its highest clinical validity score, be it for breast or ovarian cancer. NF1 was seen on 3 of 6 test panels but not included above. This gene is likely on panels due to its reported association with breast cancer. Because we were unable to score its association with breast cancer, the gene was not included to avoid using the No Reported Evidence assertion for familial ovarian cancer, which seems to misrepresent its importance on gene panels. (d) Gene panels were assessed in February 2018. Again, NF1 is not represented for the same reason as specified above.