AIP (AIP Familial Adenomatous Polyposis): This gene is a tumor suppressor involved in the Wnt signalling pathway, which regulates cell growth and development. Mutations in AIP can cause Familial Adenomatous Polyposis (FAP), a condition characterized by the development of numerous polyps (precancerous growths) in the colon and rectum.

ALK (Anaplastic Lymphoma Kinase): This gene encodes a protein involved in cell signalling. Mutations in ALK can cause some types of lung cancer, particularly those that are not associated with smoking. These ALK-positive lung cancers can often be treated with targeted therapies.

APC (Adenomatous Polyposis Coli): This well-known tumour suppressor gene is the main culprit behind Familial Adenomatous Polyposis (FAP), like AIP. Mutations in APC disrupt the regulation of cell growth, leading to uncontrolled proliferation and polyp formation in the colon.

ATM (Ataxia Telangiectasia Mutated): This gene plays a critical role in the DNA damage response pathway. When DNA damage occurs, ATM helps to activate cell cycle arrest and DNA repair mechanisms. Mutations in ATM can cause ataxia-telangiectasia, a rare genetic disorder characterized by progressive neurological problems, immune deficiencies, and an increased risk of cancer.

BAP1 (BRCA1 Associated Protein 1): This gene encodes a protein that functions in several cellular processes, including DNA repair, cell cycle regulation, and tumour suppression. Mutations in BAP1 can increase the risk of various cancers, including uveal melanoma (eye cancer), mesothelioma (cancer of the lining of some organs), and renal cell carcinoma (kidney cancer).

BLM (Bloom Syndrome):  Mutations in this gene cause Bloom syndrome, a rare genetic disorder characterized by short stature, a predisposition to various cancers, and increased sensitivity to sunlight. BLM encodes a protein involved in DNA replication and repair.

BMPR1A (Bone Morphogenetic Protein Receptor Type 1A): This gene encodes a protein involved in the transforming growth factor-beta (TGF-beta) signalling pathway, which regulates cell growth, differentiation, and development. Mutations in BMPR1A can cause Hereditary Haemorrhagic Telangiectasia (HHT), a condition characterized by abnormal blood vessel development that can lead to nosebleeds, bleeding in the lungs (pulmonary arteriovenous malformations - PAVMs), and sometimes in the brain.

BRCA1 (Breast Cancer Gene 1): This well-known tumour suppressor gene plays a critical role in DNA repair. Mutations in BRCA1 significantly increase the risk of breast cancer, ovarian cancer, and some other cancers.

BRCA2 (Breast Cancer Gene 2): Similar to BRCA1, BRCA2 is another tumour suppressor gene involved in DNA repair. Mutations in BRCA2 also significantly increase the risk of breast cancer and ovarian cancer, as well as other cancers.

BRIP1 (BRCA1 Interacting Protein 1): This gene encodes a protein that interacts with BRCA1 and helps it function in DNA repair processes. Mutations in BRIP1 may slightly increase the risk of breast and ovarian cancer, but the association is not as strong as with BRCA1 and BRCA2 mutations.

CDC73 (Cell Division Cycle 73): This gene plays a role in DNA replication during cell division. Mutations in CDC73 are not well understood but may be implicated in certain cancers.

CDH1 (Cadherin 1): This gene encodes a protein involved in cell adhesion, which helps cells stick together and form tissues. Mutations in CDH1 have been linked to certain types of stomach cancer.

CDK4 (Cyclin-Dependent Kinase 4): This gene encodes a protein that promotes cell cycle progression. CDK4 is involved in regulating the G1/S checkpoint, a critical control point in the cell cycle where the cell decides whether to proceed with DNA replication. Overactivity of CDK4 can contribute to uncontrolled cell growth and cancer development.

CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C, p57): In contrast to CDK4, this gene encodes a protein that inhibits cell cycle progression. CDKN1C (p57) acts as a tumour suppressor by preventing uncontrolled cell division.

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A, p16): Like CDKN1C, CDKN2A (p16) is another tumour suppressor gene that inhibits cell cycle progression. Mutations in CDKN2A can be found in various cancers, including melanoma and pancreatic cancer.

CEBPA (CCAAT/Enhancer Binding Protein Alpha): This gene is essential for the development and function of various blood cells, particularly granulocytes. Mutations in CEBPA can cause various blood disorders, including acute myeloid leukaemia (AML).

CEP57 (Centrosomal Protein 57): This gene encodes a protein involved in the function of centrosomes, structures that play a critical role in cell division. Mutations in CEP57 have been linked to some types of cancer, but the exact mechanisms are not fully understood.

CHEK2 (Checkpoint Kinase 2): This gene plays a role in DNA damage response and cell cycle arrest. CHEK2 helps to activate repair mechanisms when DNA damage occurs and can also trigger cell death if the damage is too severe. Mutations in CHEK2 can increase the risk of various cancers, including breast cancer and colon cancer.

CYLD (Cylindromatosis): This gene encodes a protein involved in a signalling pathway that regulates cell growth and death. Mutations in CYLD can cause cylindromatosis, a rare genetic disorder characterized by the development of benign skin tumours.

DDB2 (Damage Specific DNA Binding Protein 2): This gene encodes a protein involved in DNA repair. DDB2 helps to recognize damaged DNA and recruit repair proteins. Mutations in DDB2 can contribute to a condition called xeroderma pigmentosum, characterized by extreme sensitivity to sunlight and a high risk of skin cancer.

DICER1 (Dicer 1, Ribonuclease Type III): This gene encodes an enzyme that plays a crucial role in processing microRNAs (miRNAs). miRNAs are small non-coding RNAs that regulate gene expression. Mutations in DICER1 can disrupt miRNA function and have been implicated in various cancers.

DIS3L2 (DIS3 Like Dehydrogenase 2): This gene encodes an enzyme involved in DNA repair. Mutations in DIS3L2 are not well understood but may be linked to an increased risk of certain cancers.

EGFR (Epidermal Growth Factor Receptor): This gene encodes a cell surface receptor protein involved in cell growth, proliferation, and survival. Mutations or overactivity of EGFR can contribute to the development of various cancers, including lung cancer, breast cancer, and colorectal cancer. Drugs targeting EGFR are used for the treatment in some cancers.

EPCAM (Epithelial Cell Adhesion Molecule): This gene encodes a protein present on the surface of epithelial cells. EPCAM is not directly involved in cancer development but is a commonly used marker for identifying and isolating epithelial cancer cells in diagnostic tests.

ERCC2, ERCC3, ERCC4, ERCC5 (Excision Repair Cross-Complementary): These four genes encode proteins involved in the nucleotide excision repair (NER) pathway, a major mechanism for repairing DNA damage caused by UV radiation and other agents. Mutations in any of these genes can increase the risk of skin cancer and other cancers.

EXT1 & EXT2 (Exostoses [Hereditary Multiple] 1 & 2): These genes encode enzymes involved in the synthesis of heparan sulphate, a sugar molecule found on the cell surface. Mutations in EXT1 or EXT2 can cause hereditary multiple exostoses (HME), a skeletal disorder characterized by the development of benign bone tumours.

EZH2 (Enhancer of Zeste Homolog 2): This gene encodes an enzyme that modifies chromatin, the tightly packed structure of DNA within the cell. EZH2 adds a chemical tag (methyl group) to histone proteins, which affects how genes are expressed. Mutations in EZH2 can disrupt normal gene regulation and have been implicated in various cancers, including certain types of lymphoma and myeloid leukemia. Overactivity of EZH2 can lead to uncontrolled cell growth.

FANCA (Fanconi Anaemia, Complementation Group A): This gene is the first identified gene associated with Fanconi anemia (FA), a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of . FANCA is part of a complex pathway involved in DNA repair. Mutations in FANCA disrupt this pathway, leading to problems with DNA repair and increased chromosomal instability.

FANCB (Fanconi Anaemia, Complementation Group B): Similar to FANCA, FANCB is another gene involved in the Fanconi anaemia pathway. The protein encoded by FANCB interacts with other FA proteins and plays a critical role in DNA repair. Mutations in FANCB also contribute to the development of Fanconi anaemia.

FANCC - This gene is part of the Fanconi anaemia (FA) pathway, which plays a critical role in DNA repair. Mutations in FANCC can lead to FA, a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of leukaemia.

FANCD2 (Fanconi Anaemia, Complementation Group D2): This gene is another key player in the Fanconi anaemia (FA) pathway. The protein encoded by FANCD2 interacts with FANCI to form a complex that is essential for DNA repair. Mutations in FANCD2 disrupt this complex and contribute to the development of FA.

FANCE (Fanconi Anaemia, Complementation Group E):  While less well-understood compared to other FA genes, FANCE is also part of the FA pathway. It likely functions in DNA repair processes, but the exact mechanisms are still being elucidated. Mutations in FANCE contribute to FA development,

FANCF (Fanconi Anaemia, Complementation Group F): This gene encodes a protein involved in the FA pathway that interacts with several other FA proteins. FANCF plays a role in stabilizing DNA structures during repair processes. Mutations in FANCF disrupt this function and contribute to FA.

FANCG (Fanconi Anaemia, Complementation Group G): Similar to FANCE, FANCG is another FA gene with a less well-defined role. It is likely involved in DNA repair processes, but the specific mechanisms require further research. Mutations in FANCG contribute to FA development.

FANCI (Fanconi Anaemia, Complementation Group I): This gene encodes a protein that interacts with FANCD2 to form a complex crucial for DNA repair in the FA pathway. Mutations in FANCI disrupt this complex and contribute to FA.

FANCL (Fanconi Anemia, Complementation Group L): This gene encodes a protein involved in the FA pathway that interacts with FANCM. FANCL plays a role in stabilizing DNA structures during repair processes. Mutations in FANCL disrupt this function and contribute to FA.

FANCM (Fanconi Anaemia, Complementation Group M): This gene encodes a protein involved in the FA pathway that interacts with FANCL. FANCM plays a role in unwinding DNA structures during repair processes. Mutations in FANCM disrupt this function and contribute to FA.

FH (Fumarate Hydratase): This gene encodes an enzyme involved in the citric acid cycle (Krebs cycle), a crucial metabolic pathway for energy production in cells. Mutations in FH can cause hereditary leiomyomatosis and renal cell cancer (HLRCC), a condition characterized by the development of benign smooth muscle tumours (leiomyomas) and an increased risk of kidney cancer. It's important to note that FH is not directly part of the FA pathway, but mutations can have similar consequences like increased risk of cancer.

FLCN - Mutations in this gene cause Birt-Hogg-Dubé syndrome, a rare condition characterized by skin tumours, lung cysts, and a predisposition to kidney cancer. FLCN is a tumour suppressor gene, meaning it helps regulate cell growth and division.

GATA2 - This gene is essential for the development of blood cells. Mutations in GATA2 can cause various blood disorders, including severe congenital neutropenia, a condition characterized by a lack of white blood cells.

GPC3 - (Glypican 3) encodes a protein involved in cell signalling and development.

HNF1A - This gene is involved in the development and function of the liver, kidneys, and pancreas. Mutations in HNF1A can cause maturity-onset diabetes of the young (MODY), a type of diabetes that appears in early adulthood.

HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog): This gene encodes a protein called HRAS, a small GTPase involved in cell signaling pathways. HRAS regulates various cellular processes, including cell growth, proliferation, and differentiation. Mutations in HRAS that lead to its constant activation can contribute to uncontrolled cell growth and cancer development.

KIT (Kirsten Rat Sarcoma Viral Oncogene Homolog): Similar to HRAS, KIT encodes a protein (KIT) that functions as a receptor tyrosine kinase in cell signalling. KIT plays a crucial role in various processes, including cell survival, proliferation, and migration. Mutations in KIT can lead to uncontrolled cell growth and various cancers, such as gastrointestinal stromal tumours (GIST) and certain types of leukemia.

MAX (MYC Associated Factor X): This gene encodes a protein that interacts with MYC, a well-known oncogene involved in cell growth and proliferation. MAX regulates MYC activity and plays a role in cell cycle progression. Mutations in MAX can disrupt this regulation and potentially contribute to cancer development, although the exact mechanisms are still being investigated.

MEN1 (Multiple Endocrine Neoplasia 1): This tumor suppressor gene is responsible for a condition called Multiple Endocrine Neoplasia type 1 (MEN1). MEN1 syndrome is characterized by the development of tumors in multiple endocrine glands, such as the parathyroid glands, pituitary gland, and pancreatic islet cells. Mutations in MEN1 disrupt its tumor suppressor function, leading to uncontrolled growth in these tissues.

MET (MET Proto-Oncogene): This gene encodes a protein called MET, a receptor tyrosine kinase involved in cell signaling pathways that regulate cell growth, survival, and migration. Mutations in MET that lead to its constant activation can contribute to uncontrolled cell growth and various cancers, such as lung cancer, gastric cancer, and some types of papillary thyroid carcinoma.

MLH1, MSH2, MSH6, PMS1, PMS2 (MutL Homolog 1, MutS Homolog 2, MutS Homolog 6, Postmeiotic Segregation 1, Postmeiotic Segregation 2): These five genes are all involved in DNA mismatch repair (MMR), a critical process for correcting errors that occur during DNA replication. Mutations in any of these genes can impair MMR, leading to increased mutations and a higher risk of developing certain cancers, particularly Lynch syndrome, a hereditary cancer syndrome characterized by an increased risk of colorectal cancer and other cancers.

NBN (Nibrin): This gene encodes a protein involved in the DNA damage response pathway. NBN helps to activate cell cycle arrest and DNA repair mechanisms when DNA damage occurs. Mutations in NBN can disrupt this response, leading to increased genomic instability and a higher risk of developing cancers, such as breast cancer and leukemia.

NF1 (Neurofibromatosis Type 1): This tumor suppressor gene is responsible for neurofibromatosis type 1 (NF1), a genetic disorder characterized by the development of non-cancerous tumors (neurofibromas) on the skin and nerves. Mutations in NF1 disrupt its tumor suppressor function, leading to uncontrolled growth of these tissues.

NF2 (Neurofibromatosis Type 2): Similar to NF1, this tumor suppressor gene is responsible for neurofibromatosis type 2 (NF2), another genetic disorder characterized by the development of tumors on nerves and the formation of benign growths in the brain (meningiomas). Mutations in NF2 disrupt its tumor suppressor function, leading to uncontrolled growth in these tissues.

NSD1 (Nuclear Receptor Binding SET Domain Protein 1): This gene encodes a protein involved in chromatin remodeling, which regulates how tightly DNA is packaged within the cell. NSD1 modifies histones (proteins around which DNA is wrapped) to influence gene expression. Mutations in NSD1 have been linked to certain types of leukemia and may disrupt normal gene regulation.

PALB2 (Partner and Localizer of BRCA2): This gene encodes a protein that interacts with BRCA2, a well-known tumor suppressor gene involved in DNA repair. PALB2 helps BRCA2 function correctly in DNA repair processes. Mutations in PALB2 can increase the risk of breast cancer and other cancers like BRCA2 mutations but with a generally lower penetrance (likelihood of developing cancer).

PHOX2B (Paired Box Homeobox 2B): This gene plays a critical role in the development and function of neural crest cells, which contribute to various tissues like the nervous system, bones, and pigment cells. Mutations in PHOX2B can cause various neurological disorders, including neuroblastoma (a childhood cancer) and congenital central hypoventilation syndrome (CCHS), a condition characterized by difficulty controlling breathing.

PRF1 (Perforin 1): This gene encodes a protein called perforin, which is a key component of the immune system. Perforin helps cytotoxic T lymphocytes (CTLs) kill virus-infected cells and cancer cells by creating pores in their membranes. Mutations in PRF1 can impair CTL function and increase susceptibility to infections and certain cancers.

PRKAR1A (Protein Kinase A Regulatory Subunit 1A): This gene encodes a regulatory subunit of protein kinase A (PKA), an enzyme involved in various cellular processes like metabolism, cell growth, and survival. Mutations in PRKAR1A can disrupt PKA signaling and have been linked to Carney syndrome, a rare genetic disorder characterized by various symptoms, including pigmented skin lesions, heart problems, and non-cancerous tumors.

PTCH1 (Patched Homolog 1): This tumor suppressor gene plays a critical role in the Sonic Hedgehog signalling pathway, which is essential for embryonic development and regulates cell growth in adults. Mutations in PTCH1 can disrupt this pathway and lead to uncontrolled cell growth, contributing to various cancers, including basal cell carcinoma (a type of skin cancer) and medulloblastoma (a childhood brain tumor).

PTEN (Phosphatase and Tensin Homolog): This well-known tumor suppressor gene encodes a protein that acts as a phosphatase, removing phosphate groups from other proteins. PTEN regulates cell growth, proliferation, and survival. Mutations in PTEN can lead to uncontrolled cell growth and contribute to various cancers, such as breast cancer, prostate cancer, and endometrial cancer.

RAD51C & RAD51D (RAD51 Recombination Protein C & D): These two genes encode proteins involved in homologous recombination repair (HRR), a major pathway for repairing double-strand DNA breaks. RAD51C and RAD51D play crucial roles in this process by facilitating the exchange of genetic material between sister chromatids during DNA repair. Mutations in either gene can impair HRR and increase the risk of developing cancers, such as breast cancer and ovarian cancer.

RB1 (Retinoblastoma 1): This tumor suppressor gene is named after the childhood eye cancer retinoblastoma, for which mutations in RB1 are a major cause. RB1 encodes a protein that regulates cell cycle progression. Mutations in RB1 disrupt this control and can lead to uncontrolled cell growth and various cancers, including retinoblastoma, osteosarcoma (bone cancer), and some types of lung cancer.

RECQL4 (RecQ Like Helicase 4): This gene encodes a protein involved in DNA repair processes. RECQL4 functions in DNA unwinding and helps maintain genome stability. Mutations in RECQL4 can disrupt DNA repair and increase the risk of developing cancers, such as Bloom syndrome (a rare genetic disorder with cancer predisposition) and certain types of leukemia.

RET (Rearranged Expressed Tyrosine Kinase): This gene encodes a receptor tyrosine kinase involved in various cellular processes, including cell development, migration, and survival. Mutations in RET can disrupt these processes and lead to various disorders, including Hirschsprung disease (a bowel disorder) and certain types of thyroid cancer.

RHBDF2 (Rho GDP Dissociation Factor beta 2): This gene encodes a protein involved in regulating the Rho GTPase family, which plays a role in cell signaling pathways that control cell shape, movement, and adhesion. Mutations in RHBDF2 are not well understood but have been linked to some types of cancer, although the exact mechanisms are still being investigated.

RUNX1 (Runt-related transcription factor 1): This gene encodes a protein that acts as a transcription factor, regulating the expression of other genes. RUNX1 plays a critical role in the development of various blood cells and the formation of bone.

SBDS (Small Bard Syndrome 1): Mutations in this gene cause a rare genetic disorder called Shwachman-Diamond syndrome (SDS).

SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2): This gene encodes a protein involved in the assembly of succinate dehydrogenase (SDH), a complex enzyme within the mitochondria (energy-producing organelles in cells). 

SDHB - This gene provides instructions for making a protein involved in the complex process by which cells produce energy. Mutations in SDHB can cause hereditary paraganglioma-pheochromocytoma syndrome, characterized by tumours that develop in certain glands near the kidneys and adrenal glands.

SDHC & SDHD (Succinate Dehydrogenase Complex Subunit C & D): These are not technically biomarkers themselves, but rather genes that encode subunits of an enzyme complex called succinate dehydrogenase (SDH). Mutations in these genes can lead to SDH deficiency, which can disrupt mitochondrial function and be associated with certain cancers, particularly paragangliomas (tumours arising from nerve cells near the kidneys and adrenal glands).  However, SDH deficiency testing can be a biomarker used to diagnose SDH-deficient cancers.

SLX4 (Single Locus X-linked 4): This gene encodes a protein involved in spermatogenesis (sperm production). Mutations in SLX4 are associated with a rare genetic disorder called X-linked sideroblastic anaemia, characterized by microcytic anaemia (small red blood cells) and iron overload in developing red blood cells.  SLX4 mutations are not typically used as a biomarker for cancer.

SMAD4 (SMAD Family Member 4): This gene encodes a protein involved in the transforming growth factor-beta (TGF-beta) signalling pathway, which regulates cell growth, differentiation, and development. Mutations in SMAD4 can disrupt this pathway and contribute to the development of various cancers, particularly pancreatic cancer, colorectal cancer, and head and neck cancers.  SMAD4 loss can be a biomarker used for the diagnosis and prognosis of these cancers.

SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subunit B1): This tumour suppressor gene plays a role in DNA repair and chromatin remodelling. Mutations in SMARCB1 can lead to a condition called schwannomatosis, characterized by the development of multiple benign nerve sheath tumours (schwannomas).  Loss of SMARCB1 expression can also be a biomarker for certain cancers, such as epithelioid sarcoma and malignant rhabdoid tumours.

STK11 (Serine/Threonine Kinase 11): This gene encodes a protein called LKB1, a tumour suppressor involved in regulating cell growth and metabolism. Mutations in STK11 can contribute to Peutz-Jeghers syndrome, a rare genetic disorder characterized by intestinal polyps and an increased risk of certain cancers, particularly colon cancer and lung cancer.  STK11 mutations can be a biomarker for these cancers.

SUFU (Suppressor of Fused): This gene encodes a protein that negatively regulates the Hedgehog signalling pathway, which plays a crucial role in embryonic development and regulates cell growth in adults. Mutations in SUFU can disrupt this pathway and lead to uncontrolled cell growth, contributing to various cancers, such as medulloblastoma (a childhood brain tumour) and basal cell carcinoma (a type of skin cancer).  SUFU loss can be a biomarker for these cancers.

TMEM127 (Transmembrane Protein 127): This gene encodes a protein with an unknown function. Mutations in TMEM127 have been linked to a rare neurodevelopmental disorder called Pitt-Hopkins syndrome. The role of TMEM127 mutations in cancer is not well understood, and it's not currently used as a biomarker.

TP53 (Tumour Protein 53): This well-known tumour suppressor gene encodes a protein called p53, often referred to as the "guardian of the genome" due to its critical role in DNA repair, cell cycle arrest, and apoptosis (programmed cell death). Mutations in TP53 are the most common genetic alterations found in human cancers and can contribute to various types of cancer.  TP53 mutations or loss of p53 function is a biomarker used in cancer diagnosis and prognosis.

TSC1 & TSC2 (Tuberous Sclerosis Complex 1 & 2): These genes encode proteins that function as tumour suppressors in the mTOR signalling pathway, which regulates cell growth and proliferation. Mutations in TSC1 or TSC2 can lead to tuberous sclerosis complex (TSC), a genetic disorder characterized by the development of benign tumours in various organs, including the brain, skin, kidneys, and heart.  TSC1/2 loss can also be a biomarker for certain cancers, such as renal cell carcinoma (kidney cancer).

VHL (Von Hippel-Lindau): This tumour suppressor gene plays a critical role in regulating oxygen homeostasis (oxygen balance) in cells. Mutations in VHL can lead to von Hippel-Lindau disease, a genetic disorder characterized by the development of various tumours and cysts in different organs.  VHL loss can also be a biomarker for certain cancers, such as renal cell carcinoma (kidney cancer) and hemangioblastomas (tumours of blood vessels).

WRN (Werner Syndrome Recessive): Mutations cause Werner syndrome, a rare premature aging disorder. The WRN protein is involved in DNA repair, and mutations lead to DNA damage accumulation and symptoms like early cataracts and increased cancer risk.

WT1 (Wilms Tumour 1): This gene encodes a protein that regulates other genes crucial for kidney and urogenital development. Mutations in WT1 can contribute to Wilms tumour, a childhood kidney cancer, and can be a biomarker for this type of cancer.

XPA & XPC (Xeroderma Pigmentosum, Complementation Group A & C): These genes encode proteins involved in repairing DNA damage caused by UV radiation. Mutations in XPA or XPC can cause xeroderma pigmentosum (XP), a rare disorder with extreme sun sensitivity and a very high risk of skin cancer. Mutations can be used to diagnose XP.