Fig 3.
Somatic and germline alterations in DNA damage repair genes. (A) Oncoprint of somatic alterations in genes that are involved in DNA repair by homologous recombination (HR) for 451 patients. Twenty-two percent of patients harbor a tumor alteration in one of the listed genes. (B) Germline alterations for patients who consented to germline analysis (n = 221). In total, 19% of patients were found to have a germline pathogenic alteration. (C) Frequency of combined somatic and germline alterations in DNA repair genes BRCA2, BRCA1, ATM, and CHEK2 for patients who consented to germline analysis. Overall, 27% of patients had either a germline or a somatic-only alteration in one of these genes. (D) Oncoprint of somatic alterations in genes that are involved in DNA mismatch repair (MMR; top). Three percent of patients harbor a tumor alteration in one of these genes. The majority of tumors that display more than 20 somatic mutations (bottom) harbor a somatic alteration in an MMR gene.