Query Trace: Cancer[orginal query]
| Disease/Disorder | Test to be Assessed | Intended Use | Tier Classified | Detail |
|---|---|---|---|---|
| Prostate cancer | Tumor gene expression analysis (Prolaris®, Oncotype Dx® Prostate) | Prognostic, management | Tier 2  | |
| Metastatic colorectal cancer | NRAS or PIK3CA mutation analysis and/or testing for loss of PTEN or AKT protein expression | Pharmacogenomic for anti-EGFR therapy | Tier 3 | |
| Multiple actinic or solar keratoses | DPYD | Pharmacogenomic for fluorouracil cream | Tier 2 | |
| Metastatic testicular tumors, metastatic ovarian tumors, advanced bladder cancer | TPMT | Pharmacogenomic for cisplatin | Tier 2 | |
| Aggressive systemic mastocytosis | c-Kit D816V | Pharmacogenomic for imatinib | Tier 2 | |
| Bladder cancer screening | Family history of bladder cancer | Risk prediction | Tier 2 | |
| Dukes’ C colon cancer, metastatic colorectal cancer, metastatic breast cancer | DPD testing | Pharmacogenomic for 5-FU (capecitabine) | Tier 2 | |
| Skin cancer screening in adults | Family history of skin cancer | Risk prediction | Tier 2 | |
| Unresectable or metastatic melanoma | G6PD | Pharmacogenomic for dabrafenib | Tier 2 | |
| Non–small cell lung cancer | KRAS mutations [except c38G>A] | Predictive; prognostic; for anti-EGFR therapy | Tier 2 | |
| Acute, non-lymphocytic leukemias | TPMT | Pharmacogenomic for thiopurines (thioguanine), dose | Tier 2 | |
| Acute lymphatic leukemia | TPMT | Pharmacogenomic for thiopurines (mercaptopurine), dose | Tier 2 | |
| Philadelphia chromosome positive chronic myeloid leukemia | UGT1A1*28 homozygotes | Pharmacogenomic for nilotinib | Tier 2 | |
| Chronic myelogenous leukemia | Philadelphia chromosome | Pharmacogenomic for busulfan | Tier 2 | |
| Acute myeloid leukemia | KIT mutation | Predictive; prognostic | Tier 2 | |
| Acute myeloid leukemia | NPM1 mutation | Predictive; prognostic | Tier 2 | |
| Acute myeloid leukemia | CEBPA mutation | Predictive; prognostic | Tier 2 | |
| Acute myeloid leukemia | FLT3-ITD | Predictive; prognostic | Tier 2 | |
| Colorectal cancer in patient with relatives (two or more first- or second-degree) with Lynch syndrome related cancer at any age | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Colorectal cancer in patient with relative (one or more first-degree) with Lynch syndrome related cancer that was diagnosed under age 50 years | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| MSI-H histology in colorectal cancer patients younger than 60 years | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Synchronous or metachronous colorectal or other Lynch syndrome-related tumors, at any age | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Colorectal cancer in patients younger than 50 years | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Colorectal cancer diagnosed under 70 years of age, and those 70 and older who meet Bethesda guidelines | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| People with 5% or higher risk of Lynch syndrome based on any prediction model | Consideration of testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Endometrial cancer in women under 50 years of age | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Patients meeting revised Bethesda guidelines or Amsterdam criteria | Testing for Lynch syndrome | Diagnostic, screening | Tier 2 | |
| Metastatic carcinoma of the colon or rectum | UGT1A1 | Pharmacogenomic for irinotecan | Tier 2 | |
| Metastatic colorectal cancer | BRAF V600E | Pharmacogenomic for cetuximab, panitumumab | Tier 2 | |
| Colon cancer | BRAF c.1799T>A (p.V600E) | Prognostic | Tier 2 | |
| Colorectal cancer screening | First-degree family health history of colorectal cancer at a younger age or multiple affected first-degree relatives | Risk prediction | Tier 2 | |
| Risk for primary breast cancer or breast cancer recurrence | CYP2D6 | Pharmacogenomic - informing therapeutic choice, tamoxifen | Tier 2 | |
| Invasive breast cancer and breast cancer | ER-alpha and PgR status | Pharmacogenomic: for ER-alpha (ESR1)-modulating agents, recurrence risk, prognostic | Tier 2 | |
| Breast cancer | Gene expression profiles | Recurrence: risk prediction; prognostic | Tier 2 | |
| Unresectable or metastatic melanoma | BRAF V600E | Pharmacogenomic for vemurafenib | Tier 1 | |
| Unresectable or metastatic melanoma | BRAF V600E | Pharmacogenomic for dabrafenib | Tier 1 | |
| Unresectable or metastatic melanoma | BRAF V600E/K | Pharmacogenomic for trametinib | Tier 1 | |
| Non-small cell lung cancer | ALK gene rearrangement | Pharmacogenomic for crizotinib | Tier 1 | |
| Locally advanced or metastatic non-small-cell lung cancer | EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations) | Pharmacogenomic for erlotinib | Tier 1 | |
| Metastatic non-small-cell lung cancer | EGFR (exon 19 deletions and exon 21 (L858R) substitution mutations) | Pharmacogenomic for afatinib | Tier 1 | |
| Leukemia, lymphoma, solid tumor malignancies | G6PD | Pharmacogenomic for rasburicase | Tier 1 | |
| Non-Hodgkin's lymphoma | CD20 | Pharmacogenomic for tositumomab | Tier 1 | |
| Persistent or recurrent cutaneous T-cell lymphoma | CD25 | Pharmacogenomic for denileukin diftitox | Tier 1 | |
| Acute promyelocytic leukemia | PML/RARA | Pharmacogenomic for arsenic trioxide | Tier 1 | |
| Chronic myeloid leukemia | Philadelphia chromosome | Pharmacogenomic for nilotinib; diagnostic | Tier 1 | |
| Chronic myelogenous leukemia | Philadelphia chromosome | Pharmacogenomic for bosutinib; diagnostic | Tier 1 | |
| Chronic myeloid leukemia, acute lymphoblastic leukemia | Philadelphia chromosome | Pharmacogenomic for imatinib; diagnostic | Tier 1 | |
| Chronic myeloid leukemia, acute lymphoblastic leukemia | Philadelphia chromosome, T315I mutation | Pharmacogenomic for dasatinib; diagnostic | Tier 1 | |
| Gastrointestinal stromal tumors | c-Kit protein (CD 117) | Pharmacogenomic for imatinib | Tier 1 | |
| Gastric or gastroesophageal junction adenocarcinoma | HER2 | Pharmacogenomic for trastuzumab | Tier 1 | |
| Invasive colorectal cancer | Carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5 or CEA) | Prognostic | Tier 1 | |
| Metastatic colorectal cancer | KRAS | Pharmacogenomic for cetuximab, panitumumab | Tier 1 | |
| Lynch syndrome | Various strategies | Diagnostic, screening | Tier 1 | |
| Lynch syndrome | Various strategies | Screening, cascade testing of relatives | Tier 1 |  |
| Breast cancer (ER+/LN-/HER2-), intermediate risk of recurrence | Oncotype DX® | prognostic; guiding decision-making: adjuvant chemotherapy | Tier 1 | |
| Invasive breast cancer, breast cancer recurrences | ER and PgR | Pharmacogenomic | Tier 1 | |
| Early invasive breast cancer (ER+) | ER | Pharmacogenomic for anastrozole or letrozole | Tier 1 | |
| Early breast cancer (ER+) | ER | Pharmacogenomic for exemestane | Tier 1 | |
| Metastatic breast cancer | ER | Pharmacogenomic for fulvestrant | Tier 1 | |
| Invasive breast cancer | HER2 | Pharmacogenomic | Tier 1 | |
| Advanced or metastatic breast cancer | HER2 testing | Pharmacogenomic - lapatinib (in combination with capecitabine or letrozole) | Tier 1 | |
| Hereditary breast/ovarian cancer | Routine BRCA genetic counseling, routine BRCA testing | Population screening | Tier 3 | |
| Advanced HR+ HER2- breast cancer | Human epidermal growth factor 2 (HER2) testing | Pharmacogenomic; inform use of everolimus | Tier 1 | |
| Metastatic breast cancer | Human epidermal growth factor receptor (HER2) testing | Pharmacogenomic predictor of ado-trastuzumab emtansine response | Tier 1 | |
| Invasive breast cancer | Human epidermal growth factor receptor 2 (HER2) testing | Pharmacogenomic predictor of pertuzumab response | Tier 1 | |
| Invasive breast cancer | Human epidermal growth factor receptor 2 (HER2) testing | Pharmacogenomic predictor of trastuzumab response | Tier 1 | |
| Hereditary breast and ovarian cancer | Family history of known breast/ovarian cancer with deleterious BRCA mutation | Risk prediction; referral to counseling for BRCA genetic testing | Tier 1 | |
| Breast cancer | Family history | Risk prediction/informed decision making on chemoprevention | Tier 1 | |
| BRCA-related cancer; hereditary breast and ovarian cancer | Family history | Risk prediction for referral for BRCA genetic counseling | Tier 1 | |
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