CN113061658A - Gene for breast cancer genetic screening and application thereof - Google Patents
Gene for breast cancer genetic screening and application thereof Download PDFInfo
- Publication number
- CN113061658A CN113061658A CN202110397838.9A CN202110397838A CN113061658A CN 113061658 A CN113061658 A CN 113061658A CN 202110397838 A CN202110397838 A CN 202110397838A CN 113061658 A CN113061658 A CN 113061658A
- Authority
- CN
- China
- Prior art keywords
- breast cancer
- gene
- kit
- recql4
- reagent
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
- 206010006187 Breast cancer Diseases 0.000 title claims abstract description 50
- 208000026310 Breast neoplasm Diseases 0.000 title claims abstract description 50
- 108090000623 proteins and genes Proteins 0.000 title claims abstract description 29
- 238000010448 genetic screening Methods 0.000 title claims abstract description 8
- 239000000523 sample Substances 0.000 claims abstract description 22
- 101100247873 Homo sapiens RECQL4 gene Proteins 0.000 claims abstract description 18
- 238000004393 prognosis Methods 0.000 claims abstract description 11
- 210000000349 chromosome Anatomy 0.000 claims abstract description 5
- 239000003153 chemical reaction reagent Substances 0.000 claims description 17
- 238000001514 detection method Methods 0.000 claims description 13
- 238000012163 sequencing technique Methods 0.000 claims description 13
- 238000012360 testing method Methods 0.000 claims description 12
- 238000002360 preparation method Methods 0.000 claims description 2
- 238000003149 assay kit Methods 0.000 claims 1
- 206010028980 Neoplasm Diseases 0.000 abstract description 29
- 201000011510 cancer Diseases 0.000 abstract description 17
- 230000035772 mutation Effects 0.000 abstract description 15
- 238000009169 immunotherapy Methods 0.000 abstract description 6
- 206010064571 Gene mutation Diseases 0.000 abstract description 5
- 239000003550 marker Substances 0.000 abstract description 4
- 230000008901 benefit Effects 0.000 abstract description 3
- 102100027452 ATP-dependent DNA helicase Q4 Human genes 0.000 description 13
- 101000580577 Homo sapiens ATP-dependent DNA helicase Q4 Proteins 0.000 description 13
- 210000001519 tissue Anatomy 0.000 description 11
- 108020004414 DNA Proteins 0.000 description 8
- 230000034994 death Effects 0.000 description 8
- 231100000517 death Toxicity 0.000 description 8
- 210000004369 blood Anatomy 0.000 description 6
- 239000008280 blood Substances 0.000 description 6
- 230000002068 genetic effect Effects 0.000 description 5
- 150000007523 nucleic acids Chemical class 0.000 description 5
- 239000000243 solution Substances 0.000 description 5
- 230000004083 survival effect Effects 0.000 description 5
- 206010027476 Metastases Diseases 0.000 description 4
- 238000004458 analytical method Methods 0.000 description 4
- 230000009401 metastasis Effects 0.000 description 4
- 238000012216 screening Methods 0.000 description 4
- 238000007400 DNA extraction Methods 0.000 description 3
- 108091028043 Nucleic acid sequence Proteins 0.000 description 3
- 239000011324 bead Substances 0.000 description 3
- 201000010099 disease Diseases 0.000 description 3
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 3
- 238000009396 hybridization Methods 0.000 description 3
- 102100027447 ATP-dependent DNA helicase Q1 Human genes 0.000 description 2
- 101000580659 Homo sapiens ATP-dependent DNA helicase Q1 Proteins 0.000 description 2
- 206010058467 Lung neoplasm malignant Diseases 0.000 description 2
- 208000032818 Microsatellite Instability Diseases 0.000 description 2
- 239000002981 blocking agent Substances 0.000 description 2
- 238000010276 construction Methods 0.000 description 2
- 238000007796 conventional method Methods 0.000 description 2
- 102000015694 estrogen receptors Human genes 0.000 description 2
- 108010038795 estrogen receptors Proteins 0.000 description 2
- 238000000605 extraction Methods 0.000 description 2
- 201000007741 female breast cancer Diseases 0.000 description 2
- 201000002276 female breast carcinoma Diseases 0.000 description 2
- 238000001325 log-rank test Methods 0.000 description 2
- 201000005202 lung cancer Diseases 0.000 description 2
- 208000020816 lung neoplasm Diseases 0.000 description 2
- 238000000034 method Methods 0.000 description 2
- 108020004707 nucleic acids Proteins 0.000 description 2
- 102000039446 nucleic acids Human genes 0.000 description 2
- 239000011535 reaction buffer Substances 0.000 description 2
- 230000008439 repair process Effects 0.000 description 2
- 201000010700 sporadic breast cancer Diseases 0.000 description 2
- 238000005406 washing Methods 0.000 description 2
- 101150084750 1 gene Proteins 0.000 description 1
- 108700020463 BRCA1 Proteins 0.000 description 1
- 102000036365 BRCA1 Human genes 0.000 description 1
- 108700040618 BRCA1 Genes Proteins 0.000 description 1
- 101150072950 BRCA1 gene Proteins 0.000 description 1
- 108091007743 BRCA1/2 Proteins 0.000 description 1
- 108700020462 BRCA2 Proteins 0.000 description 1
- 102000052609 BRCA2 Human genes 0.000 description 1
- 108700010154 BRCA2 Genes Proteins 0.000 description 1
- 101150008921 Brca2 gene Proteins 0.000 description 1
- 102000012410 DNA Ligases Human genes 0.000 description 1
- 108010061982 DNA Ligases Proteins 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 208000033640 Hereditary breast cancer Diseases 0.000 description 1
- 108010090804 Streptavidin Proteins 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 230000003321 amplification Effects 0.000 description 1
- 238000012098 association analyses Methods 0.000 description 1
- 230000009286 beneficial effect Effects 0.000 description 1
- 210000001124 body fluid Anatomy 0.000 description 1
- 239000010839 body fluid Substances 0.000 description 1
- 239000007853 buffer solution Substances 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- JJWKPURADFRFRB-UHFFFAOYSA-N carbonyl sulfide Chemical compound O=C=S JJWKPURADFRFRB-UHFFFAOYSA-N 0.000 description 1
- 231100000504 carcinogenesis Toxicity 0.000 description 1
- 238000003759 clinical diagnosis Methods 0.000 description 1
- 230000007423 decrease Effects 0.000 description 1
- 230000003247 decreasing effect Effects 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 238000013461 design Methods 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 239000003623 enhancer Substances 0.000 description 1
- 230000007613 environmental effect Effects 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- 208000025581 hereditary breast carcinoma Diseases 0.000 description 1
- 239000005556 hormone Substances 0.000 description 1
- 229940088597 hormone Drugs 0.000 description 1
- 238000002657 hormone replacement therapy Methods 0.000 description 1
- 230000006872 improvement Effects 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 239000003147 molecular marker Substances 0.000 description 1
- 238000003199 nucleic acid amplification method Methods 0.000 description 1
- 238000001821 nucleic acid purification Methods 0.000 description 1
- 230000008520 organization Effects 0.000 description 1
- JMANVNJQNLATNU-UHFFFAOYSA-N oxalonitrile Chemical compound N#CC#N JMANVNJQNLATNU-UHFFFAOYSA-N 0.000 description 1
- 239000012188 paraffin wax Substances 0.000 description 1
- 238000010827 pathological analysis Methods 0.000 description 1
- 210000002381 plasma Anatomy 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 238000003908 quality control method Methods 0.000 description 1
- 238000012950 reanalysis Methods 0.000 description 1
- 230000000630 rising effect Effects 0.000 description 1
- 238000012502 risk assessment Methods 0.000 description 1
- 239000007858 starting material Substances 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 238000012546 transfer Methods 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 108700026220 vif Genes Proteins 0.000 description 1
Images
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/118—Prognosis of disease development
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Physics & Mathematics (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Hospice & Palliative Care (AREA)
- Biophysics (AREA)
- Oncology (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
The invention discloses a group of genes for breast cancer genetic screening and also discloses a kit for capturing the genes. The kit comprises a probe for capturing RECQL4 gene, wherein the capture region of the probe is the chromosome number: chr 8; area position: 144511288-144517833; area: exon regions and exon-intron junction regions. By detecting whether the RECQL4 gene is mutated, the risk of suffering from breast cancer in the human population can be identified. Therefore, the breast cancer susceptible population can know the cancer risk in advance, and the clinical guidance significance is better. Meanwhile, mutation pressure of the RECQL4 gene mutation patient is remarkably improved, and the mutation pressure is an important marker for good prognosis of immunotherapy, so that the RECQL4 gene mutation breast cancer patient is prompted to possibly benefit from the immunotherapy.
Description
Technical Field
The invention belongs to the technical field of biology, and relates to a gene for carrying out molecular typing on a highly invasive tumor, and application of the gene in predicting occurrence and transfer risks of the highly invasive tumor.
Background
Cancer is considered to be a major cause of death and a significant obstacle to extending life expectancy in every country in the world. According to the World Health Organization (WHO) estimate in 2019, cancer is a few two causes of death in people with age less than 70 years in 112 of 183 countries, with the mortality rate of cancer ranked third or fourth in the other 23 countries. The importance of cancer as a major cause of death has further increased. According to the statistics of 2020, the incidence rate of female breast cancer exceeds that of lung cancer, and the breast cancer becomes the most frequently occurring cancer type in the world, and the incidence rate of female breast cancer is 11.7% in the new 1930 ten thousand cancer patients. Breast cancer is the fifth leading cause of cancer death worldwide, with 685,000 deaths in 2020. In women, breast cancer accounts for one-fourth of the cancer cases, one-sixth of the cancer deaths, ranking first in incidence in the vast majority of countries (159 out of 185 countries) and first in mortality in 110 countries.
In many european americans, the incidence of breast cancer has increased rapidly during the 1980 s and 1990 s, and then, in the early 2000 s, the incidence has tended to decline or stabilize, largely due to the reduced use of menopausal hormone therapy and the plateau in which screening is involved. The incidence of disease has been rising slowly in the european and american countries since 2007. According to the follow-up information and the tumor molecular marker of cancer patients, the European and American countries find that the newly increased incidence rate after 2007 is limited to estrogen receptor positive cancers, and the incidence rate of estrogen receptor negative cancers is decreasing. Therefore, with the improvement of the detection technology, the detection rate of the breast cancer is also improved. The incidence rate of breast cancer is the first in China, but the fatality rate of breast cancer is lower than that of lung cancer in China. According to the cancer patient information registered in china in 2015, about 15% of new cancer patients are breast cancer.
Breast cancer is a highly heterogeneous disease, and the causative factors include genetic factors, hormone levels, environmental factors, and the like. About 10% to 15% of cancer patients have a family genetic history. With the identification of the highly exogenic tumor susceptibility genes BRCA1 and BRCA2, genetic screening for the BRCA1 and BRCA2 genes facilitated the assessment and control of breast cancer genetic risk. Although gene screening for breast cancer has gradually become a routine clinical detection scheme, the current gene screening for breast cancer only comprises a few genes, which greatly limits the evaluation of tumor susceptibility.
Disclosure of Invention
The invention provides a gene for evaluating the cancer risk of breast cancer and a detection kit thereof aiming at genetic screening of breast cancer patients without BRCA1/2 mutation.
The invention provides a gene for predicting the cancer risk of breast cancer, which is RECQL4 gene.
The invention provides a detection kit for cancer risk of breast cancer and breast cancer prognosis analysis, which comprises a probe for capturing the RECQL4 gene.
Wherein, the detection kit preferably further comprises: the kit comprises a genome DNA extraction reagent, a library construction reagent, a second-generation sequencing reagent and one or more reagents selected from terminal repair enzyme, terminal repair reaction buffer solution, DNA ligase, connection reaction buffer solution, a joint containing a molecular label, a library amplification primer, PCR premix solution, a joint blocking agent, a DNA blocking agent, hybridization buffer solution, a hybridization enhancer, magnetic bead washing solution, hybridization washing solution, a capture library PCR primer, a quality control product, a nucleic acid purification magnetic bead and a streptavidin magnetic bead.
Wherein the genomic DNA extraction reagent is a genomic DNA extraction reagent which is conventional in the field.
Wherein, the library constructing reagent and the second generation sequencing reagent are reagents which are conventionally used in the field, as long as the requirements of constructing the library by the obtained sequence and carrying out the second generation sequencing can be met. The second generation sequencing is conventional in the art.
The detection kit of the present invention preferably further comprises an instrument for extracting a detection sample from the detection object; more preferably, the device further comprises a device for extracting tissue or blood from the body of the detected object or the tumor patient, and the device is preferably any blood extracting needle, syringe and the like which can be used for blood extraction.
The test sample of the present invention is preferably a tissue derived from a test subject, as long as the genomic DNA of the test subject can be extracted from the test sample. The test sample is preferably one or more of a tissue sample, blood, plasma and body fluid, more preferably a tissue sample, more preferably a paraffin tissue sample, preferably a tissue with a high tumor cell content.
The detection kit is suitable for breast cancer genetic risk assessment, and the use method comprises the following steps:
(1) extracting the double-stranded nucleic acid of the genome DNA in blood and tissue samples;
(2) performing denaturation treatment on the DNA double-stranded nucleic acid obtained in the step (1) to obtain a DNA single strand, and capturing the DNA single strand of the RECQL4 gene by using a capture probe; the capture area is as follows: chromosome number: chr 8; area position: 144511288-144517833; area: exon regions and exon-intron junction regions. Designing probes for capture objects is a common technique in the art, and sequence capture of probes includes, but is not limited to, chromosome numbering: chr 8; area position: 144511288-144517833; area: exon regions and exon-intron junction regions.
(3) Sequencing the DNA single strand captured in the step (2) to obtain a nucleic acid sequence in blood and tissue samples;
(4) carrying out automatic processing on the nucleic acid sequence obtained in the step (3), and calculating the number of variation sites of RECQL4 gene in a tissue sample, wherein if the number of the variation sites is 0, the nucleic acid sequence is a wild type RECQL 4; if the number of the mutation sites is more than 0, the mutation type is RECQL4, and the probability of suffering from breast cancer is high.
Wherein the extraction method, the library construction method, the sequencing method and the gene variation site calculation method in the steps (1-4) are all conventional methods in the field.
On the basis of the common knowledge in the field, the above preferred conditions can be combined randomly to obtain the preferred embodiments of the invention.
The reagents and starting materials used in the present invention are commercially available.
The beneficial effects obtained by the invention are as follows: the invention provides a gene for predicting the cancer risk of non-BRCA 1/2 breast cancer for the first time, and provides a prognostic marker for non-BRCA 1/2 breast cancer, wherein a RECQL4 gene prognostic prediction model is used for distinguishing patients with poorer prognosis and better prognosis. The mutation pressure of the RECQL4 gene mutation breast cancer patient is remarkably improved, and the mutation pressure is an important marker for good prognosis of immunotherapy, so that the RECQL4 gene mutation breast cancer patient is suggested to possibly benefit from the immunotherapy.
Drawings
FIG. 1 is a statistical plot of microsatellite instability scores for RECQL4 mutant and wild-type patients;
FIG. 2 shows the result of analyzing the mutation status of RECQL4 gene of breast cancer patients and the overall survival time of breast cancer patients. Patients in the RECQL4 mutant group had poorer prognosis and higher risk of death compared to patients in the RECQL4 wild-type group. Hr (hazard ratio): a risk ratio; CI (Confidence Interval): a confidence interval; p values were calculated using the LogRank test.
Detailed Description
The invention will be further elucidated with reference to the specific examples, without thereby being limited to the scope of the examples described. Those of ordinary skill in the art will understand that: various changes, modifications, substitutions and alterations can be made to the embodiments without departing from the principles and spirit of the invention, the scope of which is defined by the claims and their equivalents. The following are experimental methods in which specific conditions are not specified in the examples, according to conventional methods and conditions, or according to the commercial instructions.
EXAMPLE 1 preparation of genomic DNA sample and determination of tumor mutation site
In order to detect the tumor susceptibility genes of the breast cancer, the invention analyzes the tumor susceptibility genes in two stages, and the first stage completes the reanalysis of the sequencing data of the whole exome of 10 non-BRCA 1/2 family hereditary type breast cancer samples and the sequencing data of 78 sporadic breast cancer samples. The data is derived from the SRA database. Through the first stage of tumor susceptibility gene analysis, high-frequency genes in a TCGA database and a COSMIC database and a NCCN hereditary breast cancer diagnosis and treatment guide are further combined, the invention designs a gene group (table 1) comprising 226 genes, and a capture probe aiming at the gene group is customized and used for the second stage of sequencing. The second stage uses the capture probe to complete the target sequencing work of 213 breast cancer tissue specimens (samples collected). All specimens were collected to the second hospital affiliated with the Zhejiang university medical college and the excess specimens after pathological diagnosis were used for sequencing studies for the patients surgically excised tissue specimens.
TABLE 1 Gene List
Example 2 identification of novel Breast cancer susceptibility genes
To identify new breast cancer susceptibility genes, a case-control based whole exome association analysis was performed on 78 sporadic breast cancer samples with 260 female normal samples of east asian populations collected in a thousand human Genome (1000Genome) database. Rare variations of RECQL4 were significantly enriched in breast cancer patients relative to normal samples with P0.00064 and relative risk (odd ratio) OR 8.96 (95% confidence interval: 1.86-40.53), as shown in table 2. The RECQL4 gene is suggested to be a breast cancer susceptibility gene and can be used for breast cancer genetic screening.
TABLE 2 Breast cancer susceptibility gene mutation profiles in east Asian population
In the table, LRM indicates Low risk of metastasis (Low risk of metastasis), HRM indicates High risk of metastasis (High risk of metastasis)
Example 3RECQL4 mutation can result in significant elevation of patient catastrophe
Analysis of whole exome data by MSIsensor (n 88), with 5 patients presenting RECQL4 copy number variation and 4 patients presenting RECQL4 point mutation, we found that the microsatellite instability of the RECQL4 mutant patients was significantly elevated (P <0.001), suggesting that the mutation pressure of the RECQL4 mutant patients was significantly elevated (figure 1). Since mutation is an important marker for good prognosis of immunotherapy, it is suggested that patients with mutations in RECQL4 gene may benefit from immunotherapy.
Example 4 survival model of breast cancer prediction by RECQL4 variant status
Survival analysis is an important means to assess whether a factor is associated with the prognosis of a patient. Among all data in example 1 (n 301), breast cancer patients were divided into two groups, one group being a RECQL4 variant group, including simple variants and copy number variants, for a total of 56, according to the variant status of RECQL 4; the other group is the wild group of RECQL4, and the total number is 245. The results of Log-rank test show that the two groups have significant difference (P is 0.0057), the invention further uses a one-factor Cox proportional risk model to evaluate the relationship between the RECQL4 gene variation state and the overall survival time, and the calculated risk ratio is 1.56 (the 95% confidence interval is 1.13-2.12), compared with the patients in the mutant group, the patients in the wild group with the RECQL4 gene have better prognosis and lower death risk. Therefore, the present invention finds that the overall survival of patients with RECQL4 variation is worse by detecting the mutation status of the RECQL4 gene (FIG. 2). The breast cancer is a highly genetic heterogeneous disease, so that the gene screening result of a patient needs to be comprehensively judged in clinical practice by combining the detection result of the kit and other clinical diagnosis and treatment guidelines.
Claims (10)
1. The gene for breast cancer genetic screening is characterized in that the gene is RECQL4 gene.
2. The gene of claim 1, wherein the breast cancer comprises: non-BRCA 1/2 mutant breast cancer.
3. Use of a reagent for detecting the gene of claim 1 in the preparation of a kit for predicting risk of breast cancer and a kit for analyzing prognosis of breast cancer.
4. A kit for genetic screening of breast cancer, wherein the kit for detection comprises: a probe for capturing the gene of claim 1.
5. The test kit of claim 4, wherein the capture region of the probe is chromosome number: chr 8; area position: 144511288-144517833; area: exon regions and exon-intron junction regions.
6. The test kit of claim 4, further comprising: extracting reagent of genome DNA, constructing reagent of library and second generation sequencing reagent.
7. The test kit of claim 4, further comprising an instrument for extracting a test sample from a test subject.
8. A breast cancer prognosis assay kit, wherein the kit for detection comprises: a probe for capturing the gene of claim 1.
9. The test kit of claim 8, wherein the capture region of the probe is chromosome number: chr 8; area position: 144511288-144517833; area: exon regions and exon-intron junction regions.
10. The test kit of claim 8, further comprising: extracting reagent of genome DNA, constructing reagent of library and second generation sequencing reagent.
Priority Applications (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202110397838.9A CN113061658A (en) | 2021-04-14 | 2021-04-14 | Gene for breast cancer genetic screening and application thereof |
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN202110397838.9A CN113061658A (en) | 2021-04-14 | 2021-04-14 | Gene for breast cancer genetic screening and application thereof |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CN113061658A true CN113061658A (en) | 2021-07-02 |
Family
ID=76566739
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN202110397838.9A Pending CN113061658A (en) | 2021-04-14 | 2021-04-14 | Gene for breast cancer genetic screening and application thereof |
Country Status (1)
| Country | Link |
|---|---|
| CN (1) | CN113061658A (en) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN119331826A (en) * | 2024-12-18 | 2025-01-21 | 智在汉青生物科技(浙江)有限公司 | Immune cells expressing non-secretory IL-10 for enhancing cellular immunotherapy, preparation method and use thereof |
Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101476163A (en) * | 2009-02-03 | 2009-07-08 | 赵永良 | Use of RecQL4 gene high expression as novel target in antineoplastic medicament preparation |
| WO2009105154A2 (en) * | 2008-02-19 | 2009-08-27 | The Jackson Laboratory | Diagnostic and prognostic methods for cancer |
| US20140228233A1 (en) * | 2011-06-07 | 2014-08-14 | Traci Pawlowski | Circulating biomarkers for cancer |
| CN105256014A (en) * | 2015-09-29 | 2016-01-20 | 王义明 | Breast cancer combined diagnosis markers and detecting kit |
| CN111647648A (en) * | 2020-05-21 | 2020-09-11 | 北斗生命科学(广州)有限公司 | Gene panel for detecting breast cancer gene mutation and detection method and application thereof |
-
2021
- 2021-04-14 CN CN202110397838.9A patent/CN113061658A/en active Pending
Patent Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009105154A2 (en) * | 2008-02-19 | 2009-08-27 | The Jackson Laboratory | Diagnostic and prognostic methods for cancer |
| CN101476163A (en) * | 2009-02-03 | 2009-07-08 | 赵永良 | Use of RecQL4 gene high expression as novel target in antineoplastic medicament preparation |
| US20140228233A1 (en) * | 2011-06-07 | 2014-08-14 | Traci Pawlowski | Circulating biomarkers for cancer |
| CN105256014A (en) * | 2015-09-29 | 2016-01-20 | 王义明 | Breast cancer combined diagnosis markers and detecting kit |
| CN111647648A (en) * | 2020-05-21 | 2020-09-11 | 北斗生命科学(广州)有限公司 | Gene panel for detecting breast cancer gene mutation and detection method and application thereof |
Non-Patent Citations (4)
| Title |
|---|
| ARVIND ARORA等: "RECQL4 helicase has oncogenic potential in sporadic breast cancers", 《J PATHOL》 * |
| ARVIND ARORA等: "RECQL4 helicase is a key prognostic, predictive and therapeutic target in breast cancer", 《NCRI,LIVERPOOL,UK》 * |
| HONGBO FANG等: "RecQL4 helicase amplification is involved in human breast tumorigenesis", 《PLOS ONE》 * |
| PING MEI等: "High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas", 《DIAGN PATHOL》 * |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN119331826A (en) * | 2024-12-18 | 2025-01-21 | 智在汉青生物科技(浙江)有限公司 | Immune cells expressing non-secretory IL-10 for enhancing cellular immunotherapy, preparation method and use thereof |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20230203573A1 (en) | Methods for detection of donor-derived cell-free dna | |
| JP6369857B2 (en) | Method for obtaining information on hepatocellular carcinoma, and marker and kit for obtaining information on hepatocellular carcinoma | |
| WO2018090298A2 (en) | Systems and methods for monitoring lifelong tumor evolution | |
| CN113284554A (en) | Circulating tumor DNA detection system for screening micro residual focus after colorectal cancer operation and predicting recurrence risk and application | |
| AU2018305609B2 (en) | Enhancement of cancer screening using cell-free viral nucleic acids | |
| WO2014170497A2 (en) | Method for identifying the quantitative cellular composition in a biological sample | |
| CN101679971A (en) | The decision method of progression risk of glaucoma | |
| KR20190085667A (en) | Circulating Tumor DNA Detection Method Using Sample comprising Cell free DNA and Uses thereof | |
| CN113337608B (en) | Combined marker for early diagnosis of liver cancer and application thereof | |
| CN109652513B (en) | Method and kit for accurately detecting individual mutation of liquid biopsy based on second-generation sequencing technology | |
| CN117730163A (en) | A kind of dilated cardiomyopathy gene detection marker and its application | |
| Kapteijn et al. | RNA-sequencing to discover genes and signaling pathways associated with venous thromboembolism in glioblastoma patients: a case-control study | |
| JP2017070240A (en) | Rare mutation detection method, detection device, and computer program | |
| CN111647673A (en) | Application of microbial flora in acute pancreatitis | |
| CN113061658A (en) | Gene for breast cancer genetic screening and application thereof | |
| CN114150063A (en) | Urine miRNA marker for bladder cancer diagnosis, diagnostic reagent and kit | |
| CN112280866A (en) | Method, primer and probe for screening 14 fusion genes related to acute promyelocytic leukemia by fluorescent quantitative PCR technology | |
| CN116751859A (en) | NMIBC prediction model, construction method and application thereof | |
| TWI417546B (en) | Dna methylation biomarkers for prognosis prediction of lung adenocarcinoma | |
| CN114231628A (en) | A marker combination for predicting the efficacy of immune checkpoint inhibitors in gastrointestinal tumors and its application | |
| CN108342483B (en) | Group of genes for molecular typing of non-hyper-mutant colorectal cancer and application thereof | |
| CN111118162A (en) | JAK2 deletion mutant gene and detection method thereof | |
| EP2203570A1 (en) | 3.4 kb mitochondrial dna deletion for use in the detection of cancer | |
| CN112391474A (en) | Method for predicting esophageal squamous carcinoma metastasis based on fusobacterium nucleatum in tumor | |
| CN115961035B (en) | Molecular marker for detecting susceptibility to cervical cancer, kit and application |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PB01 | Publication | ||
| PB01 | Publication | ||
| SE01 | Entry into force of request for substantive examination | ||
| SE01 | Entry into force of request for substantive examination |