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Fig. 4 | Journal of Translational Medicine

Fig. 4

From: A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Fig. 4

Correlation between cancer history and genetic results for high CADD score variants. Representation of the personal and family history of the samples carrying two or more VUS with high CADD scores. For each variant, the CADD-score and the gene affected is indicated. The different tumor types for the index case and the family members are coded as following: Br, breast; Ov, ovarian; Col, colon; Pan, pancreas; Gas, gastric; Thy, thyroid; Pr, porstatic; End, endometrial; H&N, head and neck; Liv, liver; Kid, kidney; CNS, central nervous system; Skin, skin; Lun, lung and CUP, cancer of unknown primary origin. When multiple cancer cases in the family or several variants in the same gene existed, we used the “x” symbol to represent the multiplicative condition: 1x (1), 2x (2), 3x (3), etc

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