The invention belongs to the technical field of
medicine, and relates to application of a
gene mutation site and a
mutation site detection method. The invention mainly discloses application of a
PTEN-p.P248L
gene locus, a
PTEN-p.T319fs
gene locus, a BRAF gene V600E locus, an NRAS gene Q61R locus, an RET gene M918T locus, an NRAS gene Q61K locus, an
HRAS gene Q61R locus and the like in preparation of
thyroid cancer prevention and treatment drugs and / or preparation of
thyroid cancer detection reagents. The
mutant PTEN gene at least comprises one of the following site
mutation: PTEN-p.P248L site mutation, and the base change is c.743C > T; the PTEN-p.T319fs site is mutated, and the basic group is changed into c.955_956insAA. The invention further discloses a capture method in high-
throughput sequencing. The invention provides the
mutant gene which is related to papillary
thyroid carcinoma targeted medication and has a high proportion, so that the sites can be purposefully detected and can be better used for
adjuvant therapy, the
workload of detection and
data analysis is effectively reduced, and the detection time and cost are reduced.