What is it?

Our Genetic Full Cancer Risk Test comprehensively screens and detects genetic variants in 94 genes that may increase the risk of common and rare cancers. The genes analyzed include AIP, ALK, APC, ATM, BAP1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PHOX2B, PMS1, PMS2, PRF1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RHBD, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC.

1. Tumor Suppressor Genes

These genes normally prevent uncontrolled cell growth. Mutations can lead to various cancers.

· APC: Familial adenomatous polyposis, colorectal cancer

· BAP1: Uveal melanoma, mesothelioma

· BMPR1A: Juvenile polyposis syndrome

· BRCA1, BRCA2: Breast and ovarian cancer

· CDC73: Hyperparathyroidism-jaw tumor syndrome

· CDH1: Hereditary diffuse gastric cancer, lobular breast cancer

· CDKN2A: Melanoma, pancreatic cancer

· CYLD: Cylindromatosis, skin tumors

· DICER1: DICER1 syndrome, various childhood cancers

· EXT1, EXT2: Hereditary multiple exostoses, bone tumors

· FH: Hereditary leiomyomatosis and renal cell cancer

· FLCN: Birt-Hogg-Dubé syndrome, kidney cancer

· MAX: Hereditary pheochromocytoma and paraganglioma

· MEN1: Multiple endocrine neoplasia type 1

· NF1: Neurofibromatosis type 1, benign tumors

· NF2: Neurofibromatosis type 2, benign tumors

· PTEN: Cowden syndrome, breast, thyroid, and other cancers

· RB1: Retinoblastoma

· SDHA, SDHAF2, SDHB, SDHC, SDHD: Paragangliomas, pheochromocytomas

· SMARCB1: Malignant rhabdoid tumors

· STK11: Peutz-Jeghers syndrome, gastrointestinal and other cancers

· TP53: Li-Fraumeni syndrome, multiple cancers

· TSC1, TSC2: Tuberous sclerosis, benign tumors

· VHL: von Hippel-Lindau syndrome, kidney cancer

· WT1: Wilms tumor, childhood kidney cancer

2. DNA Repair Genes

These genes are involved in fixing DNA damage. Mutations increase the risk of various cancers.

· ATM: Breast cancer, Ataxia-telangiectasia

· BRIP1: Ovarian cancer

· CHEK2: Breast and other cancers

· ERCC2, ERCC3, ERCC4, ERCC5: Xeroderma pigmentosum, skin cancer

· FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM: Fanconi anemia, leukemia, and other cancers

· MLH1, MSH2, MSH6, PMS1, PMS2: Lynch syndrome, colorectal and other cancers

· MUTYH: MUTYH-associated polyposis, colorectal cancer

· NBN: Nijmegen breakage syndrome, cancer risk

· PALB2: Breast cancer

· RAD51C, RAD51D: Breast and ovarian cancer

· RECQL4: Rothmund-Thomson syndrome, cancer risk

· SLX4: Fanconi anemia-like syndrome, cancer risk

· WRN: Werner syndrome, cancer and aging

· XPA, XPC: Xeroderma pigmentosum, skin cancer

3. Genes Involved in Cell Cycle Regulation

These genes control cell division. Mutations can lead to cancer.

· BUB1B: Mosaic variegated aneuploidy syndrome, cancer risk

· CDK4: Familial melanoma

· CDKN1C: Beckwith-Wiedemann syndrome, cancer risk

· CEBPA: Familial acute myeloid leukemia

· CEP57: Mosaic variegated aneuploidy syndrome, cancer risk

· PRKAR1A: Carney complex, multiple endocrine tumors

4. Oncogenes

· These genes, when mutated or overexpressed, can promote cancer.

· ALK: Lung cancer, neuroblastoma

· EGFR: Lung cancer, other cancers

· HRAS: Costello syndrome, increased cancer risk

· KIT: Gastrointestinal stromal tumors (GIST)

· KRAS: Various cancers

· RET: Multiple endocrine neoplasia type 2, medullary thyroid cancer

· MET: Hereditary papillary renal carcinoma

· RHBD: Increased cancer risk

5. Genes Related to Specific Syndromes and Conditions

These genes are associated with specific genetic syndromes that carry a cancer risk.

· AIP: Pituitary adenomas

· DIS3L2: Perlman syndrome, cancer risk

· EZH2: Various cancers, especially lymphoma

· GATA2: GATA2 deficiency, blood cancers

· GPC3: Simpson-Golabi-Behmel syndrome, cancer risk

· HNF1A: Maturity-onset diabetes of the young (MODY), cancer risk

· PHOX2B: Congenital central hypoventilation syndrome, cancer risk

· PRF1: Familial hemophagocytic lymphohistiocytosis, immune-related cancers

· RUNX1: Familial platelet disorder with associated myeloid malignancies

· SBDS: Shwachman-Diamond syndrome, cancer risk

· SMAD4: Juvenile polyposis syndrome, gastrointestinal cancers

· SUFU: Gorlin syndrome, basal cell carcinoma

6. Genes Related to Gene Expression and Epigenetic Regulation

These genes regulate gene expression or epigenetic modifications, and mutations can lead to cancer.

· DDB2: DNA repair, skin cancer risk

· EZH2: Gene silencing, linked to cancer, especially lymphoma

· NSD1: Sotos syndrome, increased cancer risk

· SMARCB1: Regulates chromatin structure, associated with rhabdoid tumors

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