Is contralateral prophylactic mastectomy associated with a survival advantage in high-risk women with a personal history of breast cancer?
In this retrospective cohort study, CPM was associated with decreased CBC event and improved overall survival and disease free survival.
This study extends both the mutations known to be responsible for LHX3-associated syndromes and their possible phenotypical consequences. Previously reported traits include CPHD and restricted neck rotation; patients examined in the present study also show a severe hearing defect. In addition, the existence of cervical vertebral malformations are revealed, responsible for the rigid neck and the development of scoliosis.