Would you send a lung cancer patient for genetic counseling/germline mutation testing if they are harboring mutations in NGS with variation allele frequency between >=50%?
Are there indications which would prompt you to send a patient with lung cancer for genetic counseling/germline mutation testing?
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EGFR T790M mutations can indeed be present in the germline and represent a heritable risk factor for lung cancer. The two families I have identified were initially found by tumor genetics showing a 50% allele frequency for T790M in an untreated patient's tumor, usually with an EGFR exon 19 or L858R ...
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As @Dr. First Last notes, there are a few families with germline EGFR T790M mutations. If patients present and bear a EGFR T790M prior to any exposure to EGFR TKI, then it would be appropriate to refer for genetic counseling (primarily for evaluation of family members if the patient is found to have...
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Sure, if there is an obvious mutation that is at very high VAF, I would send the patient for genetic testing. Although in the case of lung cancer, most of these are more likely to be incidental; while some lung cancers have been found to harbor, for example, BRCA mutations, PARPi have been ineffecti...
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In light of the data presented by Dr. @Dr. First Last at the ASCO Plenary series in August 2022, I have increased my referrals for germline mutation testing in lung cancer patients significantly. In this study, genetic testing results among those with lung cancer demonstrated a pathogenic germline v...
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