Genomic Profiling

Cancer Genomics (Oncogenomics): From Risk Modification to Surveillance

Precision Cancer Care Starts in the Genome

At Phuket Cancer Institute, we leverage cuttingedge genomic and epigenetic medicine to guide every stage of cancer care—from lowering hereditary risk before any tumor forms to posttreatment surveillance that keeps recurrence in check. As part of the Bangkok Hospital Network, our ISO 15189:2012aligned laboratory and multidisciplinary precisiononcology team deliver internationalstandard care in Phuket’s renowned wellness hub.

Why Cancer Genomics (Oncogenomics) Matters

Genomic Insight	Why It’s Important
Identify Germline Risk	Highpenetrance mutations (e.g., BRCA1/2, Lynch genes, TP53) guide enhanced screening or prophylactic surgery.
Profile Tumor Drivers	Actionable alterations (EGFR, ALK, BRAF, FGFR2, HER2) match patients to targeted drugs.
Predict Immunotherapy Response	Microsatellite instability (MSI) and tumor mutational burden (TMB) stratify checkpointblockade candidates.
Track Resistance & Minimal Residual Disease	ctDNA/CTC assays detect relapse months before imaging.

Onesizefitsall oncology is history; precision, patientspecific therapy is our reality.

Our Oncogenomic Service Pathway

Stage	Key Test / Approach	Primary Outcome
Risk Modification	Epigenetic age & methylationdrift panel	Lifestyle, nutrition & chemoprevention plan to reduce future cancer risk.
Hereditary Screening	84gene germline NGS panel	Defines inherited risk (BRCA1/2, MLH1, MSH2, APC, TP53, CDH1 …).
Diagnostics	NGS ± MSI/TMB/PDL1, HER2 IHC	Defines driver mutations, fusions & amplifications for firstline therapy.
Prognosis	Integrated mutation + DNAmethylation score	Predicts recurrence, metastasis, overall survival; tailors followup.
Therapeutic Selection	molecular tumor board	Aligns patients to targeted therapy, immunotherapy, ADCs, or trials.
Surveillance	ctDNA & CTC monitoring (SpotMAS)	Detects minimal residual disease or molecular relapse early.
Pharmacogenomics	DPYD, UGT1A1, CYP2D6, TPMT (+ extended PGx)	Personalized dosing of 5FU, irinotecan, tamoxifen, thiopurines, etc.

Impact Across Common Solid Tumors

Tumor Type	Key Gene Changes	Treatment Impact
Colon	KRAS/NRAS, BRAF V600E, MSI	AntiEGFR only if wildtype KRAS/NRAS; MSIhigh → immunotherapy; BRAF V600E → combotargeted therapy.
Stomach	HER2, MSI	HER2 amp → trastuzumab; MSIhigh → PD1 blockade.
Pancreas	BRCA1/2, PALB2, KRAS	PARP inhibitors for BRCA/PALB2; KRAS G12C inhibitors (trials).
Liver (HCC)	TP53, CTNNB1	Guides trial enrollment for emerging targeted combos.
Bile Duct	FGFR2 fusions, IDH1	FGFR2 or IDH1 inhibitors now approved.
Neuroendocrine	MEN1, DAXX, ATRX	Molecular subtype guides prognosis & trial matching.
Breast	HER2, PIK3CA, BRCA1/2, HRD	Trastuzumab/pertuzumab, alpelisib, PARP inhibitors, endocrine biomarkers.
Lung (NSCLC)	EGFR, ALK, ROS1, RET, KRAS G12C, MET	TKIs: osimertinib, alectinib, lorlatinib, selpercatinib, sotorasib, capmatinib.
Ovarian / Gyn	BRCA1/2, HRD, PIK3CA, MSI	PARP, PI3K, and PD1 inhibitor based on profile.
Prostate	BRCA1/2, PALB2, ATM, TP53, PTEN, AR CNVs	PARP inhibitors, PI3K/AKT trials, nextgen ARtargeted therapy.

5Step PrecisionOncology Workflow

Step	What Happens
1. Consult	Inperson or telemedicine review with our Genetic Counselor or Clinical Geneticist.
2. Collect	Tissue biopsy or blood/saliva for germline or ctDNA testing.
3. Sequence & Analyze	Highthroughput NGS with AIassisted bioinformatics.
4. Report & Counsel	Actionable plan covering therapy, trials, prophylaxis, lifestyle.
5. Treat & Monitor	Targeted therapy plus continuous molecular surveillance.

Prognosis: Genetic and Epigenetic Insights

Factor	Clinical Value
Genetic Mutations	TP53, KRAS, BRAF raise recurrence risk; EGFR predicts TKI response; CREBBP, POLD1 may signal longer survival.
Epigenetic Signatures	DNAmethylation score refines risk; guides followup cadence and adjuvant therapy decisions.

RiskModification: Lifestyle and chemoprevention plans based on epigenetic profile.
PostCure Surveillance: Periodic methylation panels flag relapse earlier than imaging.