Cancer Genetic Test

154 biomarkers included

• ABRAXAS1Recruits BRCA1 to DNA breaks; a candidate breast cancer gene under study.An ABRAXAS1 change is an emerging, not yet confirmed, breast cancer risk signal in the BRCA1 complex.
• AIPA pituitary tumor suppressor; causes familial, often young-onset pituitary adenomas.An AIP change signals inherited pituitary adenoma risk, often growth-hormone tumors appearing young.
• AKT1A growth-signaling gene; germline or mosaic changes cause Proteus overgrowth syndrome.An AKT1 change points to overgrowth-spectrum findings rather than a defined inherited cancer risk.
• ALKA growth-signal receptor; germline changes cause familial neuroblastoma in children.An ALK change signals inherited neuroblastoma risk, prompting infant surveillance in affected families.
• ANKRD26A platelet-production gene; causes inherited low platelets with progression to leukemia.An ANKRD26 change signals lifelong low platelets and raised myeloid leukemia and myelodysplasia risk.
• APCThe gene behind familial adenomatous polyposis; drives hundreds of colon polyps and near-certain colorectal cancer if untreated.An APC change signals a polyposis syndrome with very high colorectal cancer risk and possible preventive colon surgery.
• ATMCoordinates the cell's DNA-damage response; a common moderate-risk gene for breast and other cancers.An ATM change raises breast cancer risk and, per one analysis, pancreatic cancer odds about fourfold.
• ATRA master DNA-damage-response kinase; rare variants are a candidate cancer signal.An ATR change is an exploratory finding tied to rare skin and oropharyngeal cancer reports.
• AXIN2A Wnt-pathway gene; loss links missing teeth to colorectal polyps and cancer.An AXIN2 change signals a polyposis-linked colorectal cancer risk, often alongside missing teeth.
• BAP1A tumor suppressor behind a distinct syndrome; links eye and skin melanoma to mesothelioma and kidney cancer.A BAP1 change signals risk of uveal melanoma, mesothelioma, and kidney cancer, prompting eye and skin surveillance.
• BARD1Forms a repair complex with BRCA1; a moderate-risk gene favoring triple-negative breast cancer.A BARD1 change signals moderately raised breast cancer risk, particularly the triple-negative subtype.
• BLMA DNA-unwinding helicase; two copies cause Bloom syndrome with very broad cancer risk.Two BLM changes signal Bloom syndrome with high risk across many childhood and adult cancers.
• BMPR1AThe second juvenile polyposis gene; drives hamartomatous gut polyps and colorectal cancer risk.A BMPR1A change signals juvenile polyposis and raised colorectal cancer risk.
• BRCA1The most-studied breast and ovarian cancer gene; a damaged copy sharply raises lifetime risk and guides surgery, screening, and treatment.A pathogenic BRCA1 change signals high lifetime breast and ovarian cancer risk that justifies enhanced screening or risk-reducing surgery.
• BRCA2Partner to BRCA1 in DNA repair; adds prostate, pancreatic, and melanoma risk to the breast and ovarian picture.A BRCA2 change points to high breast and ovarian risk plus raised prostate and pancreatic cancer risk.
• BRIP1Works with BRCA1 in DNA repair; an established ovarian cancer gene, also called FANCJ.A BRIP1 change mainly signals raised ovarian cancer risk, informing conversations about ovary removal after childbearing.
• BUB1BA cell-division checkpoint gene; two copies cause mosaic variegated aneuploidy with childhood tumors.Two BUB1B changes signal a chromosome-missegregation syndrome with Wilms tumor and rhabdomyosarcoma risk.
• CASRThe calcium-sensing receptor; variants shift parathyroid calcium control rather than directly causing cancer.A CASR change usually signals inherited calcium and parathyroid abnormalities that aid endocrine-tumor workups.
• CDC73Causes hyperparathyroidism-jaw tumor syndrome, linking parathyroid tumors to jaw and kidney lesions.A CDC73 change signals parathyroid tumor risk, including rare parathyroid cancer, plus jaw and kidney lesions.
• CDH1Encodes a cell-adhesion protein; loss drives hereditary diffuse gastric cancer and lobular breast cancer.A CDH1 change signals diffuse stomach cancer risk high enough to consider preventive stomach removal.
• CDK4A cell-cycle driver; a rarer melanoma gene mirroring CDKN2A's skin cancer risk.A CDK4 change signals inherited melanoma risk, warranting regular full-skin examinations.
• CDKN1BA cell-cycle brake; causes multiple endocrine neoplasia type 4 with parathyroid and pituitary tumors.A CDKN1B change signals parathyroid and pituitary tumor risk in the type 4 endocrine syndrome.
• CDKN1CA growth-restraining gene; loss causes Beckwith-Wiedemann overgrowth with childhood tumors.A CDKN1C change signals overgrowth with raised Wilms tumor and hepatoblastoma risk in children.
• CDKN2AControls the cell cycle; the main gene for familial melanoma and a pancreatic cancer contributor.A CDKN2A change signals high melanoma risk plus raised pancreatic cancer risk, prompting skin and pancreas surveillance.
• CEBPAA blood-cell maturation gene; causes a distinct familial acute myeloid leukemia.A CEBPA change signals inherited acute myeloid leukemia risk, often earlier onset with better outcomes.
• CEP57A spindle-assembly gene; biallelic loss causes mosaic variegated aneuploidy.Two CEP57 changes signal a chromosome-instability syndrome with childhood tumor risk.
• CHEK2A DNA-damage checkpoint gene; among the most frequently found moderate-risk breast cancer variants.A CHEK2 change roughly doubles breast cancer risk and adds colorectal and prostate risk.
• CTC1A telomere-capping gene; biallelic loss causes Coats plus, a telomere disorder.Two CTC1 changes signal a telomere-biology disorder with marrow and vascular complications.
• CTNNA1A cell-adhesion partner of CDH1; loss is a rarer cause of hereditary diffuse gastric cancer.A CTNNA1 change signals inherited diffuse stomach cancer risk, prompting specialist gastric surveillance.
• CTRCA pancreatic enzyme regulator; variants raise chronic pancreatitis risk.A CTRC change signals pancreatitis susceptibility that can, over time, raise pancreatic cancer risk.
• CYLDA tumor suppressor for skin appendages; causes familial cylindromatosis.A CYLD change signals inherited skin-appendage tumors of the scalp and face.
• DDB2Recognizes ultraviolet DNA damage; two copies cause xeroderma pigmentosum group E.Two DDB2 changes signal extreme sun sensitivity and very high skin cancer risk.
• DDX41An RNA-processing gene; the most common inherited cause of adult myeloid leukemia and myelodysplasia.A DDX41 change signals later-life risk of myelodysplastic syndrome and acute myeloid leukemia.
• DICER1Processes regulatory RNA; drives a syndrome of lung, kidney, thyroid, and ovarian tumors.A DICER1 change signals risk of childhood lung tumors, thyroid nodules, and ovarian Sertoli-Leydig tumors.
• DIS3L2An RNA-processing gene; loss causes Perlman overgrowth syndrome with Wilms tumor.A DIS3L2 change signals overgrowth with high childhood Wilms tumor risk.
• DKC1Causes X-linked dyskeratosis congenita; short telomeres drive marrow failure and squamous cancers.A DKC1 change signals dyskeratosis congenita with marrow failure and head, neck, and skin squamous cancer risk.
• EGFRA growth-signal receptor; rare inherited variants cause familial lung cancer.An inherited EGFR change signals familial lung cancer risk, even in never-smokers.
• EGLN1An oxygen-sensing gene; variants link to erythrocytosis and paraganglioma.An EGLN1 change signals altered oxygen sensing with paraganglioma risk under study.
• ELANEA neutrophil enzyme gene; causes severe congenital neutropenia with leukemia progression.An ELANE change signals low neutrophils and raised risk of myelodysplasia and acute leukemia.
• ENGA blood-vessel gene; causes hereditary hemorrhagic telangiectasia.An ENG change mainly signals vascular malformations, informing a telangiectasia workup rather than a defined cancer risk.
• EPCAMSilences the neighboring MSH2 gene when deleted, producing Lynch syndrome without a direct repair-gene mutation.An EPCAM deletion signals Lynch syndrome risk driven by shutdown of the adjacent MSH2 gene.
• ERCC1A DNA-excision-repair gene; a candidate contributor to the sun-sensitivity repair group.An ERCC1 change is an exploratory finding within the ultraviolet-damage repair pathway.
• ERCC2Unwinds DNA for excision repair; two copies cause xeroderma pigmentosum group D.Two ERCC2 changes signal severe sun sensitivity and very high skin cancer risk.
• ERCC3A DNA-unwinding repair gene; two copies cause xeroderma pigmentosum group B.Two ERCC3 changes signal ultraviolet-repair failure with high skin cancer risk.
• ERCC4A DNA-cutting repair gene (also FANCQ); two copies cause xeroderma pigmentosum group F.Two ERCC4 changes signal sun sensitivity and skin cancer risk, overlapping Fanconi-type repair defects.
• ERCC5A DNA-cutting repair gene; two copies cause xeroderma pigmentosum group G.Two ERCC5 changes signal ultraviolet-repair failure with high skin cancer risk.
• EXO1Trims DNA during mismatch repair; a candidate colorectal cancer gene.An EXO1 change is an emerging colorectal cancer risk signal within the mismatch-repair group.
• EXT1Builds cartilage-matrix sugars; causes hereditary multiple exostoses with bone-tumor risk.An EXT1 change signals multiple bony growths that can rarely progress to cartilage cancer.
• EXT2Partner to EXT1; the second gene for hereditary multiple exostoses.An EXT2 change signals hereditary bony growths with a small risk of chondrosarcoma.
• EZH2A chromatin-modifying gene; germline changes cause Weaver overgrowth syndrome.An EZH2 change signals overgrowth with a modest, still-defined risk of childhood blood cancer.
• FAN1A DNA-crosslink-repair gene; a candidate for colorectal cancer and kidney disease.A FAN1 change is an exploratory colorectal cancer risk signal within the crosslink-repair pathway.
• FANCAA central Fanconi anemia gene; two copies cause marrow failure, one may modestly raise breast risk.Two FANCA changes signal Fanconi anemia; a single copy may modestly raise breast or ovarian cancer risk.
• FANCBAn X-linked Fanconi anemia core gene; biallelic loss causes the syndrome.A FANCB change signals Fanconi anemia risk with marrow failure; single-copy cancer risk is unestablished.
• FANCCA Fanconi anemia gene; biallelic loss causes marrow failure and leukemia predisposition.Two FANCC changes signal Fanconi anemia with marrow failure and leukemia risk.
• FANCD2A central Fanconi anemia gene activated during DNA repair; biallelic loss causes the syndrome.Two FANCD2 changes signal Fanconi anemia with marrow failure and leukemia risk.
• FANCEA Fanconi anemia core-complex gene; biallelic loss causes the syndrome.Two FANCE changes signal Fanconi anemia; heterozygous cancer risk remains uncertain.
• FANCFA Fanconi anemia core-complex gene; biallelic loss causes the syndrome.Two FANCF changes signal Fanconi anemia with marrow failure; single-copy risk is unproven.
• FANCGA Fanconi anemia gene; biallelic loss causes the syndrome, heterozygous cancer risk appears unlikely.Two FANCG changes signal Fanconi anemia; a single copy shows no clear breast or ovarian risk.
• FANCIA Fanconi anemia gene partnering FANCD2; biallelic loss causes the syndrome.Two FANCI changes signal Fanconi anemia; a single copy is a candidate, unconfirmed cancer signal.
• FANCLA Fanconi anemia enzyme that tags repair proteins; biallelic loss causes the syndrome.Two FANCL changes signal Fanconi anemia with marrow failure and cancer risk.
• FANCMA Fanconi-pathway DNA-repair gene; a candidate for triple-negative breast cancer.A FANCM change is an emerging signal for triple-negative breast cancer, not yet a confirmed high risk.
• FHAn energy-cycle enzyme; loss drives skin and uterine fibroids plus an aggressive kidney cancer.An FH change signals hereditary leiomyomatosis with aggressive kidney cancer risk needing dedicated renal imaging.
• FLCNCauses Birt-Hogg-Dube syndrome, linking skin bumps and lung cysts to kidney tumors.An FLCN change signals kidney cancer and lung-cyst risk, prompting kidney imaging and collapsed-lung awareness.
• GALNT12A sugar-adding enzyme gene; a candidate colorectal cancer gene.A GALNT12 change is an exploratory colorectal cancer risk signal.
• GATA2A blood stem-cell regulator; links immune deficiency to myelodysplastic syndrome and leukemia.A GATA2 change signals immune problems and high risk of myelodysplastic syndrome and acute leukemia.
• GEN1Resolves DNA-repair intermediates; a candidate breast cancer gene.A GEN1 change is an emerging, unconfirmed breast cancer risk signal.
• GPC3A growth-regulating gene; causes Simpson-Golabi-Behmel overgrowth with childhood tumors.A GPC3 change signals overgrowth with raised childhood Wilms tumor and hepatoblastoma risk.
• GREM1A growth-signal regulator; duplications cause hereditary mixed polyposis of the colon.A GREM1 change signals a mixed polyposis syndrome with raised colorectal cancer risk.
• HOXB13A prostate-specific developmental gene; the clearest single-gene inherited prostate cancer marker.A HOXB13 change signals inherited prostate cancer risk, supporting earlier PSA-based screening.
• HRASA growth-signal switch; germline changes cause Costello syndrome with childhood tumors.An HRAS change signals Costello syndrome with rhabdomyosarcoma and bladder cancer risk.
• IKZF1A blood-cell master gene; variants cause immune deficiency and familial leukemia.An IKZF1 change signals immune dysfunction and raised childhood lymphoblastic leukemia risk.
• KIF1BA cell-signaling gene; variants link to neuroblastoma and pheochromocytoma.A KIF1B change signals neuroblastoma and pheochromocytoma risk within the neural-crest group.
• KITA growth-signal receptor; germline changes cause familial gastrointestinal stromal tumors.A KIT change signals inherited gastrointestinal stromal tumor risk, sometimes with skin mast-cell disease.
• LZTR1A tumor suppressor; a cause of schwannomatosis with multiple nerve-sheath tumors.An LZTR1 change signals schwannomatosis with multiple painful nerve-sheath tumors.
• MAXA partner of the MYC growth switch; causes inherited pheochromocytoma.A MAX change signals pheochromocytoma risk, sometimes affecting both adrenal glands.
• MBD4A DNA-repair gene; loss drives a syndrome of leukemia and eye melanoma.Two MBD4 changes signal raised acute myeloid leukemia, uveal melanoma, and colorectal cancer risk.
• MEN1Behind multiple endocrine neoplasia type 1; clusters parathyroid, pituitary, and pancreatic hormone tumors.An MEN1 change signals risk of parathyroid, pituitary, and pancreatic endocrine tumors needing hormone and imaging surveillance.
• META growth-signal receptor; drives hereditary papillary kidney cancer.A MET change signals inherited papillary kidney cancer risk, often affecting both kidneys.
• MITFA pigment-cell master switch; one variant modestly raises melanoma and kidney cancer risk.A MITF change signals modestly raised melanoma and kidney cancer risk.
• MLH1A core mismatch-repair gene that leads the Lynch syndrome group driving colorectal and endometrial cancer.An MLH1 change signals high colorectal and endometrial cancer risk and starts early, frequent colonoscopy.
• MLH3A mismatch-repair partner gene; a candidate colorectal cancer contributor.An MLH3 change is an emerging colorectal cancer risk signal within the repair group.
• MRE11Senses DNA breaks in the MRN complex; a candidate breast cancer gene whose biallelic form causes an ataxia disorder.An MRE11 change is a candidate breast cancer signal; two copies cause an ataxia-telangiectasia-like disorder.
• MSH2The second major Lynch gene; adds urinary tract, stomach, and prostate cancers to colorectal and endometrial risk.An MSH2 change signals broad Lynch-spectrum risk, including cancers of the upper urinary and digestive tracts.
• MSH3A mismatch-repair gene; two copies cause a polyposis and colorectal cancer syndrome.Two MSH3 changes signal a polyposis syndrome with raised colorectal cancer risk.
• MSH6A Lynch gene with a sex-limited pattern, strongest for endometrial cancer with more modest colorectal risk.An MSH6 change most strongly raises endometrial cancer risk, especially in women, with lower colorectal risk.
• MUTYHRepairs oxidative DNA damage; two damaged copies cause a polyposis and colorectal cancer syndrome.Two MUTYH changes signal a polyposis syndrome with high colorectal cancer risk; one copy carries smaller risk.
• NBNPart of the DNA-break-sensing complex; a moderate breast cancer gene whose biallelic form causes Nijmegen syndrome.An NBN change signals moderately raised breast cancer risk within the genome-stability group.
• NF1Causes neurofibromatosis type 1; adds nerve-sheath tumors, brain tumors, and raised breast cancer risk.An NF1 change signals nerve-sheath and brain tumor risk plus earlier breast cancer screening in women.
• NF2Causes neurofibromatosis type 2, defined by nerve and lining-tissue tumors of the brain and spine.An NF2 change signals risk of hearing-nerve schwannomas and meningiomas, prompting brain and spine imaging.
• NHP2A telomere-maintenance gene; biallelic loss causes dyskeratosis congenita.An NHP2 change signals a telomere disorder with marrow failure and cancer risk.
• NOP10A telomere-maintenance gene; biallelic loss causes dyskeratosis congenita.A NOP10 change signals a telomere disorder with marrow failure risk.
• NTHL1Repairs oxidative DNA damage; two copies cause a polyposis with colorectal and breast cancer risk.Two NTHL1 changes signal a polyposis syndrome with colorectal, breast, and other cancer risk.
• PALB2Bridges BRCA1 and BRCA2 in DNA repair; a leading high-moderate breast cancer gene beyond BRCA.A PALB2 change signals breast cancer risk approaching BRCA2 levels, with added ovarian and pancreatic risk.
• PALLDA cytoskeleton gene; a candidate familial pancreatic cancer gene.A PALLD change is an exploratory, unconfirmed familial pancreatic cancer signal.
• PAX5A B-cell developmental gene; germline changes cause familial lymphoblastic leukemia.A PAX5 change signals inherited childhood B-cell leukemia risk.
• PDGFRAA growth-signal receptor; germline changes cause familial gastrointestinal stromal tumors.A PDGFRA change signals inherited gastrointestinal stromal tumor risk, often with intestinal fibroid tumors.
• PHOX2BA nerve-development gene; variants cause a breathing disorder and neuroblastoma.A PHOX2B change signals neuroblastoma risk, often with congenital central hypoventilation.
• PIK3CAA growth-signaling gene; germline or mosaic changes cause overgrowth-spectrum conditions.A PIK3CA change usually signals overgrowth-spectrum findings rather than a defined inherited cancer risk.
• PMS2The Lynch gene with the lowest and latest risk; still guides colon screening and family testing.A PMS2 change signals a milder Lynch pattern with modestly raised colorectal risk emerging at later ages.
• POLD1The partner polymerase to POLE; proofreading defects raise colorectal, uterine, and brain cancer risk.A POLD1 change signals polymerase-proofreading polyposis with raised colorectal and endometrial cancer risk.
• POLEA DNA-copying enzyme with proofreading; faulty proofreading drives polyps plus colorectal and uterine cancer.A POLE proofreading change signals raised colorectal and endometrial cancer risk from accumulated copying errors.
• POLHA DNA-copying enzyme for damaged DNA; two copies cause the xeroderma pigmentosum variant form.Two POLH changes signal sun sensitivity and high skin cancer risk from faulty ultraviolet-damage bypass.
• POT1Protects chromosome tips (telomeres); links to melanoma, glioma, and some blood cancers.A POT1 change signals raised melanoma and glioma risk tied to telomere-protection failure.
• PRKAR1ABehind Carney complex; clusters heart, skin, and endocrine tumors with pigment spots.A PRKAR1A change signals Carney complex with adrenal, thyroid, and heart tumor risk.
• PRSS1A pancreatic enzyme gene; gain-of-function changes drive hereditary pancreatitis.A PRSS1 change signals recurrent pancreatitis that substantially raises long-term pancreatic cancer risk.
• PTCH1A brake on the Hedgehog growth pathway; causes Gorlin syndrome with skin cancers and medulloblastoma.A PTCH1 change signals Gorlin syndrome with many basal cell skin cancers and childhood brain tumor risk.
• PTCH2A Hedgehog-pathway relative of PTCH1; a rarer contributor to Gorlin-type features.A PTCH2 change signals possible basal cell skin cancer predisposition within the Hedgehog pathway.
• PTENA tumor suppressor behind Cowden syndrome; adds breast, thyroid, and uterine cancer plus benign growths.A PTEN change signals Cowden syndrome, raising breast, thyroid, and endometrial cancer risk.
• RAD50Part of the DNA-break-sensing MRN complex; a candidate breast cancer gene.A RAD50 change is an emerging, unconfirmed breast cancer risk signal.
• RAD51CA homologous-recombination repair gene (FANCO); a confirmed ovarian and breast cancer gene.A RAD51C change signals raised ovarian and breast cancer risk within the DNA-repair group.
• RAD51DPartner of RAD51C in DNA repair; a validated ovarian cancer risk gene.A RAD51D change signals raised ovarian cancer risk, a leading reason to consider preventive ovary removal.
• RB1The original tumor-suppressor gene; causes retinoblastoma in children and later bone and soft-tissue cancers.An RB1 change signals childhood eye tumor risk and later osteosarcoma, guiding infant eye surveillance.
• RECQLA DNA-unwinding helicase; a candidate breast cancer gene under study.A RECQL change is an exploratory breast cancer risk signal within the DNA-repair helicases.
• RECQL4A DNA-unwinding helicase; two copies cause Rothmund-Thomson syndrome with bone cancer risk.Two RECQL4 changes signal Rothmund-Thomson syndrome with raised osteosarcoma risk.
• RESTA gene-silencing regulator; a candidate for Wilms tumor and paraganglioma.A REST change is an exploratory signal for Wilms tumor and paraganglioma risk.
• RETCauses multiple endocrine neoplasia type 2; the defining gene for inherited medullary thyroid cancer.A RET change signals medullary thyroid cancer risk high enough to consider preventive thyroid removal.
• RHBDF2A skin-signaling gene; causes tylosis with esophageal cancer.An RHBDF2 change signals thick-palm skin and high esophageal cancer risk.
• RNF43A brake on the Wnt growth pathway; loss causes serrated polyposis with colorectal cancer risk.An RNF43 change signals serrated colon polyposis and raised colorectal cancer risk.
• RPS20A ribosome-building gene; a candidate hereditary colorectal cancer gene.An RPS20 change is an emerging colorectal cancer risk signal.
• RUNX1A master blood-cell gene; causes familial platelet disorder with progression to leukemia.A RUNX1 change signals low platelets and raised risk of myelodysplastic syndrome and acute leukemia.
• SAMD9LA growth-restraining blood gene; variants cause marrow failure and myelodysplasia.A SAMD9L change signals marrow failure and myelodysplasia risk, often with loss of chromosome 7.
• SBDSA ribosome-assembly gene; two copies cause Shwachman-Diamond syndrome.Two SBDS changes signal Shwachman-Diamond syndrome with marrow failure and leukemia risk.
• SDHAThe largest energy-complex subunit; causes paraganglioma and some gastrointestinal stromal tumors.An SDHA change signals paraganglioma and gastrointestinal stromal tumor risk within the energy-complex group.
• SDHAF2Assembles the cellular energy complex; a rare paraganglioma gene with paternal inheritance.An SDHAF2 change signals head and neck paraganglioma risk, chiefly when inherited from the father.
• SDHBPart of a cellular energy complex; the highest-risk gene for malignant paraganglioma and pheochromocytoma.An SDHB change signals paraganglioma and pheochromocytoma risk with the highest chance of malignant, spreading tumors.
• SDHCAn energy-complex gene; a rarer cause of paraganglioma and pheochromocytoma.An SDHC change signals paraganglioma risk, prompting periodic hormone testing and imaging.
• SDHDAn energy-complex gene with a parent-of-origin effect; drives head and neck paragangliomas.An SDHD change signals paraganglioma risk, especially head and neck tumors, largely when inherited from the father.
• SLC45A2A pigment-production gene; variants shift skin pigment and melanoma risk.An SLC45A2 change mainly signals pigmentation traits that modestly modify melanoma risk.
• SLX4A DNA-crosslink-repair gene (FANCP); biallelic loss causes Fanconi anemia.A SLX4 change signals Fanconi-pathway repair defects; heterozygous cancer risk is unconfirmed.
• SMAD4Causes juvenile polyposis and, combined, a blood-vessel syndrome; raises gastrointestinal cancer risk.A SMAD4 change signals juvenile polyposis with colorectal and stomach cancer risk, plus vascular malformations.
• SMARCA4A chromatin-remodeling gene; drives rhabdoid tumors and a rare aggressive ovarian cancer.A SMARCA4 change signals rhabdoid tumor and small-cell ovarian cancer risk in young women.
• SMARCB1A chromatin-remodeling gene; causes rhabdoid tumors and schwannomatosis.A SMARCB1 change signals childhood rhabdoid tumor or nerve-sheath schwannoma risk depending on the variant.
• SMARCE1A chromatin-remodeling gene; predisposes to spinal and cranial meningiomas.A SMARCE1 change signals inherited meningioma risk, often clear-cell spinal tumors.
• SPINK1A pancreatic enzyme inhibitor; variants raise chronic pancreatitis risk.A SPINK1 change signals pancreatitis susceptibility that can raise long-term pancreatic cancer risk.
• SRP72A protein-transport gene; variants cause familial aplastic anemia and myelodysplasia.An SRP72 change signals inherited marrow failure and myelodysplasia risk.
• STK11Causes Peutz-Jeghers syndrome, linking gut polyps to breast, pancreatic, and gastrointestinal cancers.An STK11 change signals Peutz-Jeghers syndrome with broad gastrointestinal, breast, and pancreatic cancer risk.
• SUFUA Hedgehog-pathway suppressor; drives Gorlin features and childhood medulloblastoma.A SUFU change signals basal cell skin cancer and childhood medulloblastoma risk.
• TERCThe RNA template for telomere-building; short telomeres drive marrow failure and blood cancers.A TERC change signals a telomere disorder raising marrow failure and myeloid cancer risk.
• TERTBuilds the enzyme that maintains telomeres; variants link to marrow failure, leukemia, and some solid tumors.A TERT change signals a telomere disorder with marrow failure, leukemia, and lung fibrosis risk.
• TGFBR1A growth-signal receptor; variants cause a self-healing skin squamous tumor syndrome.A TGFBR1 change signals Ferguson-Smith self-healing squamous skin tumors.
• TINF2A telomere-protection (shelterin) gene; produces very short telomeres and dyskeratosis congenita.A TINF2 change signals a severe telomere disorder with marrow failure and cancer risk.
• TMEM127A cell-growth regulator; another inherited pheochromocytoma gene.A TMEM127 change signals adrenal pheochromocytoma risk, prompting blood pressure and hormone monitoring.
• TP53The master tumor suppressor behind Li-Fraumeni syndrome; the highest-penetrance gene here, tied to many childhood and adult cancers.A TP53 change signals extreme lifetime risk across sarcoma, breast, brain, and adrenal cancers, warranting whole-body surveillance.
• TRIP13A cell-division checkpoint gene; two copies cause mosaic variegated aneuploidy.Two TRIP13 changes signal chromosome instability with childhood Wilms tumor risk.
• TSC1A growth-restraining gene; causes tuberous sclerosis with benign tumors and kidney cancer risk.A TSC1 change signals tuberous sclerosis with kidney, brain, and skin tumor surveillance needs.
• TSC2Partner to TSC1; causes tuberous sclerosis, often with more severe kidney involvement.A TSC2 change signals tuberous sclerosis with kidney angiomyolipoma and cancer surveillance needs.
• TYRThe main pigment-making enzyme; variants cause albinism and modify skin cancer risk.A TYR change mainly signals pigmentation and albinism traits that raise sun-related skin cancer susceptibility.
• VHLDrives von Hippel-Lindau syndrome, linking kidney cancer to adrenal tumors and blood-vessel growths.A VHL change signals kidney cancer and pheochromocytoma risk, prompting lifelong imaging of kidneys, adrenals, and brain.
• WRAP53Guides the telomere-building enzyme into place; biallelic loss causes dyskeratosis congenita.A WRAP53 change signals a telomere disorder with marrow failure and cancer risk.
• WRNA DNA-repair helicase; two copies cause Werner syndrome, premature aging with sarcomas.Two WRN changes signal Werner syndrome with raised sarcoma, thyroid, and skin cancer risk.
• WT1A kidney developmental gene; the classic inherited driver of Wilms tumor in children.A WT1 change signals childhood Wilms kidney tumor risk, prompting early abdominal ultrasound surveillance.
• XPAOrganizes ultraviolet DNA repair; two copies cause xeroderma pigmentosum group A.Two XPA changes signal severe sun sensitivity and very high skin cancer risk.
• XPCDetects ultraviolet DNA damage; two copies cause xeroderma pigmentosum group C, plus a prostate cancer signal.Two XPC changes signal high skin cancer risk; single-copy variants are a candidate prostate cancer signal.
• XRCC2A homologous-recombination repair gene; a candidate breast cancer gene.An XRCC2 change is an emerging, unconfirmed breast cancer risk signal.

About Cancer Genetic Test

Related Tests

Cancer Genetic Test is best interpreted alongside these tests.