Diagnosis, treatment planning, classification, and drug resistance tests from cancer tissue. Diagnosis, treatment planning, classification, and drug resistance tests from liquid biopsy
Today, cancer is a disease that requires genetic evaluation.
In healthy people;
• The incidence of cancer in the community is 20%
• Familial cancers are 10-15% of all cancers.
• Familial cancers can be prevented or the risk can be reduced. This can be achieved with a blood screening test.
• Familial cancers recur in the family. They start at an early age and often spread quickly. They can also cause diseases in other organs.
Therefore, it is beneficial to be screened by the whole society.
• This evaluation is routine in those with a family history of cancer.
Familial cancer panel testing
https://www.nature.com/articles/s41525-019-0110-y
In summary, studies on cancer;
• When there is an individual diagnosed with cancer in the family, familial research
• Diagnosis, treatment planning, classification, and drug resistance tests from cancer tissue
• Diagnosis, treatment planning, classification, and drug resistance tests from liquid biopsy
In cancer patients;
To guide the treatment of cancer in those diagnosed with cancer;
• Which genetic factor the cancer is related to
• Whether there is a familial cancer
• Drug sensitivities and resistance
• It is important to determine the probability of recurrence and the detection method if it does.
• Oncology specialist and/or geneticist decide which tests to do.
CANCER TESTS
FOR ADVANCED-STAGE CANCERS;
Today, the concept that is as important as determining which organ or tissue has cancer, and even more important, is to determine the trigger mechanism of cancer and determine which drugs it is sensitive or resistant to. This is more important in advanced cancers. Although it may vary from patient to patient, the following tests are performed together and targeted drug screening is performed.
• PDL1 expression
• MSI (Microsatellite instability)
• Tumor mutation burden (TMB)
• Fusion panel
• Familial cancer panel
FOR COLORECTAL TUMORS;
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• NRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• BRAF (V600E) (Next Generation Sequence Analysis-NGS)
• MSI (Microsatellite instability)
• PIK3CA (Next Generation Sequence Analysis-NGS) (Exon 9: E542 and E545 ; Exon 20: H1047) MTOR (for inhibitors)
FOR LUNG ADENO CANCER;
• EGFR (exons 18-21) (including p.T790M mutation) (Next Generation Sequence Analysis-NGS)
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• ALK Rearrangements (FISH)
• ROS1 Rearrangements (FISH)
• HER2/ CerbB2 (FISH)
• ATRX (Sequence analysis) (In non-small lung cancer)
• MSI (Microsatellite instability)
• MET (FISH) (amplification)
• RET rearrangements (FISH- Breakapart)
• PDL1 expression
FOR BREAST CANCER;
• HER2/Estrogen/Progesterone/Ki67 (Immunohistochemical Staining)
• HER2/ ErbB2 (FISH)
• P53 sequence analysis (for mutations conferring function, to determine radiation dose)
• P53 (FISH) (To determine the radiation resistance)
• BRCA1-2 (Whole Gene Sequence Analysis) (Next Generation Sequence Analysis-NGS) (PARP Inhibitor Sensitivity) (From tissue and blood)
• PDL1 expression
FOR GASTRIC ADENO CANCER;
• HER2/ CerbB2 (Immunohistochemical Staining/Number)
• (IHC studies ARE DONE SEPARATELY FROM ALL BLOCKS.)
• HER2/ CerbB2 (FISH)
• MSI (Microsatellite instability)
• PDL1 expression
• KIT (c.2394C>T)
• PIK3CA (Next Generation Sequence Analysis-NGS) (Exon 9: E542 and E545 ; Exon 20: H1047) MTOR (for inhibitors)
FOR MELANOMA;
• BRAF (V600E,V600K)
• KRAS
• NRAS
• HRAS
• EGFR
• ALK (FISH)
• MET (FISH)
• KIT sequence analysis
FOR THYROID CARCINOMA (PAPILLARY THYROID CANCER);
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• NRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• HRAS (Next Generation Sequence Analysis-NGS)
• BRAF (V600E) (Next Generation Sequence Analysis-NGS)
• RET rearrangements (FISH- Breakapart)
FOR THYROID CARCINOMA (FOLLICULAR THYROID CANCER);
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• NRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• HRAS (Next Generation Sequence Analysis-NGS)
FOR GLIAL TUMORS;
• IDH1 and IDH2 (Codon 132 and 172),
• ATRX (Sequence analysis)
• P53 (TP53) (Sequence analysis)
• EGFR (18,19,20,21)
• CDKN2A (Sequence analysis)
• Containing BRAF mutations (Sequence analysis)
• 1p19q (FISH)
• PDL1 expression
• PIK3CA (Next Generation Sequence Analysis-NGS) (Exon 9: E542 and E545 ; Exon 20: H1047) MTOR (for inhibitors)
FOR cholangiocarcinoma/pancreatic carcinoma;
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• P53 (TP53) (Sequence analysis)
• CDKN2A (Sequence analysis)
• BRCA1-2 (Whole Gene Sequence Analysis) (Next Generation Sequence Analysis-NGS) (PARP Inhibitor Sensitivity) (From Tissue)
• MSI (Microsatellite instability)
FOR SARCOMA;
• TP53, RB1, MDM2, CDK4 (Immunohistochemical Staining)
• P53 (TP53) (Sequence analysis)
• RB1 (Sequence analysis)
• ATRX (Sequence analysis)
• MSI (Microsatellite instability)
FOR MENINGIOMA;
• FOXM1 (9 exons)
• Monosomy 22, (del22, LOH 22) (SNP array)
• SMARCB1
• Pituitary Adenoma
• AIP (Next Generation Sequence Analysis-NGS)
• GNAS (Next Generation Sequence Analysis-NGS)
• USP8 (Next Generation Sequence Analysis-NGS)
FOR URETERAL / BLADDER CANCER;
• KRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• NRAS (12,13,61,117, 146. codon) (Next Generation Sequence Analysis-NGS)
• HRAS (Next Generation Sequence Analysis-NGS)
• BRAF (V600E) (Next Generation Sequence Analysis-NGS)
• FGFR3 (Sequence analysis)
• PIK3CA (Next Generation Sequence Analysis-NGS) (Exon 9: E542 and E545 ; Exon 20: H1047) MTOR (for inhibitors)
• P53 (deletion) (FISH)
• HER2 (Amplification)(FISH)
FAMILIAL CANCER SCREENING (GERMLINE);
• Familial Cancer Panel (Clinical Exome Sequencing) (4900 genes)
HRD GENE PANEL