A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges

Very few families with 9p21.3 deletion have been described. These families are at risk of developing melanoma and nerve sheath tumors.  We report a family with several members affected by melanoma, astrocytoma, neurofibromas, and breast cancer. They have a 9p21.3 deletion containing 9 genes. While mutations within individual genes are associated with distinct hereditary cancer syndromes, we do not know what kinds of tumors can occur when several genes are missing. This complex case illustrates the need for healthcare providers trained in genetics to be involved in hereditary cancer testing, which is becoming increasingly utilized in various clinical settings. (by Dr. Jaime Vengoechea and Christine Tallo, MMSc, CGC, http://jmg.bmj.com/content/early/2017/07/27/jmedgenet-2017-104690 )