Fig. 6: Evolution of BRCA1/2 mutation-associated breast and ovarian tumors in three patients.

a Genetic and clinical features in Patient 20, a BRCA1 mutation carrier with ovarian cancer. LOH allele-specific loss of heterozygosity. b Genetic and clinical features in Patient 13, a BRCA2 mutation carrier with breast cancer. AAF alternative allele fraction. c Genetic and clinical features in Patient 6, a BRCA1 mutation carrier with breast cancer. For a–c, display is limited to tumors sequenced for this study. Copy number losses refer to genes with total copy number of 0 or 1; copy number gains refer to genes with total copy number ≥4. Loss of function (LoF) mutations reported here are from high-depth targeted sequencing.