What is it?

Our Core Cancer Genetic Risk Test comprehensively screens and detects genetic variants in 29 genes that may increase the risk of common cancers. The genes analyzed include ATM, APC, BMPR1A, BRCA1, BRCA2, CDKN2A, CHEK2, FLCN, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, PTEN, RAD51C, RAD51D, RB1, RET, SMAD4, STK11, TP53, TSC1, TSC2, and VHL.

1. DNA Repair Genes

These genes are crucial in repairing DNA damage. Mutations increase the risk of various cancers.

· ATM: Involved in DNA repair; mutations increase the risk of breast and other cancers.

· BRCA1: Critical for DNA repair; mutations greatly increase the risk of breast, ovarian, and other cancers.

· BRCA2: Similar to BRCA1, involved in DNA repair; mutations significantly increase breast, ovarian, and other cancer risks.

· CHEK2: Involved in DNA damage response; mutations increase the risk of breast and other cancers.

· MLH1, MSH2, MSH6: DNA mismatch repair genes; mutations cause Lynch syndrome, leading to a higher risk of colorectal and other cancers.

· MUTYH: DNA repair gene; mutations cause MUTYH-associated polyposis, increasing colorectal cancer risk.

· NBN: Involved in DNA repair; mutations cause Nijmegen breakage syndrome, increasing cancer risk.

· PALB2: Works with BRCA2 in DNA repair; mutations increase the risk of breast cancer.

· RAD51C, RAD51D: Involved in DNA repair; mutations increase the risk of breast and ovarian cancer.

· PMS1, PMS2: DNA mismatch repair genes; mutations cause Lynch syndrome, increasing colorectal and other cancer risks.

2. Tumor Suppressor Genes

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

· APC: Tumor suppressor gene; mutations cause familial adenomatous polyposis (FAP), leading to a high risk of colon cancer.

· CDKN2A: Regulates cell cycle; mutations increase the risk of melanoma and pancreatic cancer.

· FLCN: Tumor suppressor gene; mutations cause Birt-Hogg-Dubé syndrome, increasing the risk of kidney cancer.

· MEN1: Tumor suppressor gene; mutations cause multiple endocrine neoplasia type 1 (MEN1).

· PTEN: Tumor suppressor gene; mutations cause Cowden syndrome, leading to an increased risk of breast, thyroid, and other cancers.

· RB1: Tumor suppressor gene; mutations cause retinoblastoma, a childhood eye cancer.

· SMAD4: Tumor suppressor gene; mutations cause juvenile polyposis syndrome, increasing gastrointestinal cancer risk.

· STK11: Tumor suppressor gene; mutations cause Peutz-Jeghers syndrome, leading to increased risk of gastrointestinal and other cancers.

· TP53: Tumor suppressor gene (p53); mutations are linked to Li-Fraumeni syndrome, greatly increasing the risk of various cancers.

· TSC1, TSC2: Tumor suppressor genes involved in Tuberous Sclerosis Complex, leading to benign tumors and increased cancer risk.

· VHL: Tumor suppressor gene; mutations cause von Hippel-Lindau syndrome, increasing the risk of kidney cancer and other tumors.

3. Oncogenes

These genes, when mutated or overexpressed, promote cancer.

· MET: Encodes a receptor tyrosine kinase; mutations are linked to hereditary papillary renal carcinoma and other cancers.

· RET: Encodes a receptor tyrosine kinase; mutations cause multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid cancer.

4. Genes Related to Specific Syndromes

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

· BMPR1A: Mutations can cause juvenile polyposis syndrome, increasing gastrointestinal cancer risk.

· MEN1: Mutations cause multiple endocrine neoplasia type 1 (MEN1), leading to tumors in endocrine glands.

· TSC1, TSC2: Mutations lead to Tuberous Sclerosis Complex, characterized by benign tumors in multiple organs and increased cancer risk.

· VHL: Mutations cause von Hippel-Lindau syndrome, characterized by multiple tumors, including kidney cancer.

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