Distinct genomic characteristics of breast cancer in women with PTEN hamartoma tumor syndrome

Cleveland Clinic researchers have uncovered genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome (PHTS) that differentiate them from sporadic breast cancers. The findings, published in the American Journal of Human Genetics, have important implications for the personalized management of PHTS-related breast cancers.

"PHTS-associated breast cancers often develop at a younger age and may progress more aggressively than their sporadic counterparts, but they are treated similarly, which underscores the need to better understand any underlining genomic differences between PHTS-associated and sporadic breast cancers."

To address this need, the researchers performed exome sequencing on samples from 44 women with germline PTEN mutations who developed breast cancer and compared the data to samples from women with sporadic breast cancers.

They specifically investigated somatic mutations in both groups because it is posited that both copies of a tumor suppressor gene must be mutated in order for cancer to develop, which is known as Knudson's two-hit hypothesis.