Fig. 2
Pathogenic variant frequency by gene…
Fig. 2
Pathogenic variant frequency by gene and clinical history. Pooled pathogenic variant frequencies (%)…
Fig. 2Pathogenic variant frequency by gene and clinical history. Pooled pathogenic variant frequencies (%) are shown across a range of phenotypic groups based on proband and family history of cancer. Genes were grouped as follows: BRCA1/2, other breast and/or ovarian cancer genes (ATM, CHEK2, PALB2, BARD1, BRIP1, RAD51C, RAD51D, NBN, TP53, CDH1, PTEN, NF1), Lynch syndrome genes (MLH1, EPCAM/MSH2, MSH6, PMS2), and other cancer predisposition genes (STK11, CDKN2A, CDK4, SMARCA4, APC, MUTYH, BMPR1A, SMAD4, GREM1, POLD1, POLE). Pooled pathogenic frequencies exclude patients with additional cancer types unless otherwise noted. With the exception of “BC <50 + additional primary BC”, pooled pathogenic frequencies are limited to females with a single primary breast cancer. BC breast cancer, CRC colorectal cancer, OC ovarian cancer, PC pancreatic cancer, TNBC triple negative breast cancer, UEC uterine/endometrial cancer.
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