Figure 2:

(A) Universal germline sequencing in 751 patients undergoing tumor-normal sequencing using MSK-IMPACT with tumor status of alternate allele if available, screening recommendations when indicated, cascade testing in relatives and examples of clinical translation. One family reported back undergoing IVF/PGT which resulted in a pregnancy and birth of a child unaffected with LFS. While using germline results in this manner was counseled on by the Clinical Genetics team, the number of families using this information for reproductive purposes was not systematically followed.

Examples of clinical use of germline results. (B) A proband with embryonal rhabdomyosarcoma was detected to have a germline TP53 mutation which was subsequently found in her father through cascade testing. He was found through screening to have thyroid cancer and a meningioma. (C) A proband with a teratoma was found to have a germline PMS2 mutation and was started on immunotherapy. Cascade testing has not been performed in this family.