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Nontuberculous mycobacterial lung disease (NTM), including  Mycobacterium avium  complex (MAC), is a growing health problem in North America and worldwide. Little is known about the molecular alterations occurring in the tissue microenvironment during NTM pathogenesis. Utilizing next generation sequencing, we sequenced sputum and matched lymphocyte DNA in 15 MAC patients for a panel of 19 genes known to harbor cancer susceptibility associated mutations. Thirteen of 15 NTM subjects had a diagnosis of breast cancer (BCa) before or after NTM infection. Thirty three percent (4/12) of these NTM-BCa cases exhibited at least 3 somatic mutations in sputa compared to matched lymphocytes. Twenty four somatic mutations were detected with at least one mutation in  ATM ,  ERBB2 ,  BARD1 ,  BRCA1 ,  BRCA2 ,  AR ,  TP53 ,  PALB2 ,  CASP8 ,  BRIP1 ,  NBN  and  TGFB1  genes. All four NTM-BCa patients harboring somatic mutations also exhibited 15 germ line  BRCA1 and BRCA2  mutations. The two NTM subjects without BCa exhibited twenty somatic mutations spanning  BRCA1 ,  BRCA1 ,  BARD1 ,  BRIP1 ,  CHEK2 ,  ERBB2 ,  TP53 ,  ATM ,  PALB2 ,  TGFB1  and 3 germ line mutations in  BRCA1 and BRCA2  genes. A single copy loss of  STK1 1 and  AR  gene was noted in NTM-BCa subjects. Periodic screening of sputa may aid to develop risk assessment biomarkers for neoplastic diseases in NTM patients.

Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease