A case report: Incidental identification of BRCA1 positive mutation through cancer multi-gene panel testing in adenoid cystic carcinoma of the oropharynx

Abstract

Since its inclusion in Japanese insurance coverage in 2019, the importance of cancer gene panel testing has increased in the field of head and neck cancer. It is also possible to incidentally find pathogenic variants of genes unrelated to the diagnostic purpose when performing cancer gene panel testing (hereinafter referred to as “secondary findings”). Therefore, it is necessary to understand how to manage these secondary findings. We experienced a case where we performed cancer gene panel testing on a patient with adenoid cystic carcinoma of the oropharynx who had a history of breast cancer and confirmed a pathogenic variant of the BRCA1 gene as a secondary finding. We referred the patient to a hereditary tumor clinic, where a detailed family history was taken. The BRCA1 pathogenic variant was disclosed to the patient, providing valuable information for treatment options at the time of the second primary breast cancer and beneficial information for relatives. We report this valuable case here.