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Identification of MEN1 Mutation Via Next Generation Sequencing in the Cancer Treatment Centers of America (CTCA) Database.

Eyal Meiri,Kim Kramer,Navneet Dhillon, Altovise T. Ewing,Giuseppe Del Priore

Journal of clinical oncology(2015)

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摘要
e22083 Background: MEN1 is a syndrome associated with increased risk of non-endocrine related malignancies, including breast cancer and lung cancer. We attempted to correlate the MEN1 gene alteration incidence and the allelic frequency (AF) the MEN1 mutations detected. Methods: A retrospective review of 15 specimens (6 breast, 4 lung, 2 pancreas, 1 small intestine, 2 unknown primary cancers) with MEN1 gene alteration detected by Foundation OneTM (Foundation Medicine, Inc., MA) next generation sequencing (NGS) test was performed. DNA was extracted from biopsy specimens and sequencing was performed per previously described methodology. AF is calculated as percent of reads at the position of a variant, which support the alternate allele. The reported value is not corrected for the specimen tumor content. Results: N = 2361; Breast Cancer N = 414 (1.5%); Lung Cancer N= 369 (1.1%). Conclusions: MEN1 mutations are found in a variety of neoplasms with the majority in breast and lung carcinomas. Additional studies...
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