Somatic Genetic Aberrations in Benign Breast Disease and the Risk of Subsequent Breast Cancer

We established a case-control study of women with a history of benign breast biopsy (BBB). Cases developed BC at least one year after BBB and controls did not develop BC over an average of 17 years following BBB. 135 cases were matched 2:1 by age and type of benign disease (non-proliferative or proliferation without atypia) to 69 controls. Whole exome sequencing was performed on DNA from all BBB. Germline DNA (available from 26 participants) was used to develop a mutation-calling pipeline, to allow differentiation of somatic from germline variants.