Genetic detection methods for different diseases

Lung Cancer

Sample Collection: Tissue samples can be obtained through surgical resection or biopsy; liquid samples are often collected from peripheral blood to detect circulating tumor DNA (ctDNA), and samples from pleural effusion, cerebrospinal fluid, etc. can also be used.

Detection Methods: Common methods include polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), next-generation sequencing (NGS), etc. Genes detected include EGFR, ALK, ROS1, BRAF, etc.

Colorectal Cancer

Sample Collection: Commonly used samples include blood, tumor tissue, or feces.

Detection Methods: Methods include fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), immunohistochemistry (IHC), next-generation sequencing (NGS), etc. Multi-target fecal FIT-DNA testing can detect KRAS gene mutations, BMP3 and NDRG4 gene methylation, and hemoglobin.

Gastric Cancer

Sample Collection: Mainly through biopsy forceps to collect tissue samples from the gastric wall during gastroscopy, or biopsy under ultrasound or CT guidance, or use surgically removed gastric tissue, and sometimes blood samples can also be used.

Detection Methods: After extracting sample DNA, gene sequencing technology is used to detect gene variations related to gastric cancer.

Prostate Cancer

Detected Genes: Mutations in BRCA1/2, HOXB13, etc. are closely related to the risk of prostate cancer. For example, men carrying BRCA2 gene mutations have a significantly increased risk of prostate cancer.

Detection Significance: For men with high-risk factors such as family history, conducting related gene testing can help identify gene mutations. If positive results are found, more frequent screening can be initiated earlier, such as increasing the frequency of prostate-specific antigen (PSA) testing and multiparametric magnetic resonance imaging (mpMRI) starting from the age of 40, which is beneficial for the early detection of prostate cancer.

Thyroid Cancer

Detected Genes: RET, BRAF, etc. play important roles in the occurrence and development of thyroid cancer. For instance, RET gene rearrangement is relatively common in papillary thyroid carcinoma, and BRAF gene mutations are also related to the malignancy of thyroid cancer.

Detection Significance: For individuals with a family history of thyroid cancer or thyroid nodules, testing these genes can indicate the risk of thyroid cancer. Further examinations such as thyroid ultrasound and fine-needle aspiration biopsy can help increase the detection rate of early thyroid cancer.

Liver Cancer

Detected Genes: Abnormalities in TP53, CTNNB1, etc. are associated with liver cancer. Studies have found that TP53 gene mutations exist in some liver cancer patients and may affect the occurrence and prognosis of liver cancer.

Detection Significance: For high-risk groups such as hepatitis B and C virus carriers and liver cirrhosis patients, conducting related gene testing in combination with alpha-fetoprotein (AFP) testing and liver ultrasound can help detect liver cancer at an early stage, allowing for timely treatment.

Endometrial Cancer

Detected Genes: PTEN, MSH2, MLH1, etc. are related to endometrial cancer. In endometrial cancer associated with Lynch syndrome, mutations in mismatch repair genes such as MSH2 and MLH1 are often observed.

Detection Significance: For women with high-risk factors such as family history, abnormal menstruation, and obesity, gene testing can help assess the risk. Combined with gynecological ultrasound and endometrial biopsy, it is beneficial for the early detection of endometrial cancer.

Melanoma

Detected Genes: CDKN2A, BRAF, etc. are related to the risk of melanoma. CDKN2A gene mutations can significantly increase the risk of familial melanoma. Detection significance: For high-risk groups with a family history of melanoma, numerous moles, and skin that is prone to sunburn, genetic testing can assist in assessing the risk. Combined with self-skin examination and dermoscopy, it helps in the early detection of melanoma and improves the cure rate.