专利检索 ap:("THE BROAD INSTITUTE, INC." OR "DANA-FARBER CANCER INSTITUTE, INC." OR "THE GENERAL HOSPITAL CORPORATION") AND inv:"Joshua M. Francis" 第 1 页

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发明授权
Rapid quantitative detection of single nucleotide polymorphisms or somatic variants and methods to identify malignant neoplasms 有权

公开(公告)号：US10590473B2

公开(公告)日：2020-03-17

申请号：US15538382

申请日：2015-12-22

申请人： THE BROAD INSTITUTE, INC. , DANA-FARBER CANCER INSTITUTE, INC. , THE GENERAL HOSPITAL CORPORATION

发明人： Matthew Meyerson , Ganesh M. Shankar , Joshua M. Francis , Daniel P. Cahill , Mikael L. Rinne

IPC分类号： C12Q1/68 , C12Q1/6853 , C12Q1/6827

摘要： Provided are systems, kits, and methods for the quantitative detection of single nucleotide polymorphisms or variants to identify malignant neoplasms. The methods include use of modified oligonucleotide blockers with peptide nucleic acid backbones that hybridize to and block logarithmic amplification of the wild-type alleles of a target, and incorporation of locked nucleic acids into probes that are complementary to a mutant allele of the target sequence to increase specificity. The methods include detection of variants in sequences with high GC content and/or low complexity, such as the TERT promoter, IDH1, BRAF, NRAS, GNAQ, GNA11 and H3F3 A gene variants. The methods include sensitive detection and staging of cancers with low cellularity, and can be used intraoperatively such as for glioma, or to detect cell-free circulating tumor DNA, such as for melanoma.