TEST:

CancerNext-Expanded®

The patient received 4 cycles of dose dense Adriamycin Cytoxan (AC) as neoadjuvant therapy followed by right breast skin sparing mastectomy with sentinel node biopsy...Patient completed adjuvant postmastectomy radiation 5000 cGy in 25 fractions and started tamoxifen... Despite a growing population of gender aware patients, research is limited on genetic counseling for those individuals with a hereditary cancer predisposition syndrome. Clinical guidelines have been developed and adopted for this population in terms of management, but predictive testing for hereditary cancer syndromes is not the standard of care. Our recommendation is that individuals considering gender reassignment surgery and hormonal therapies consider multigene hereditary cancer panel testing to further stratify their risk for cancer prior to initiation.

"Ambry Genetics...and Tempus...announced today that they have entered into a strategic collaboration to offer best-in-class, comprehensive, germline and somatic testing services...As part of the agreement, Ambry is performing germline sequencing assays for Tempus, powered by Ambry’s CancerNext®️ and CancerNext-Expanded®️ assays...Tempus’ xG and xG+ germline assays are a part of Tempus' extensive portfolio of oncology-focused testing solutions that maximize biomarker detection and identify actionable variants linked to targeted therapy and clinical trial options."

Carriers of an FANCC pL554P mutation may be at higher risk for development of bladder cancer. However, as FANCC carrier registries have not demonstrated increased cancer incidence compared with the general population, we hypothesize that this family harbors a novel germline mutation leading to their bladder cancer propensity. Future studies are underway to perform whole-genome sequencing of germline and tumor DNA to identify additional heritable mutations that may predict bladder cancer risk.