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48 Cancer gene panel
Hereditary Cancer 48 Gene Panel: Gene, Syndromes, and type of Cancer
| Term | Definition |
|---|---|
| BRACA1 | Mutation can cause triple negative breast cancer and elevated risk of male breast cancer CAN CAUSE BREAST, OVARIAN, PANCREATIC, AND AGGRESSIVE PROSTATE CANCER |
| BRACA2 | high risk of male/female breast cancer, ovarian, pancreatic, prostate, and elevated risk of skin cancer CAN CAUSE BREAST, OVARIAN, SKIN, PANCREATIC, AND PROSTATE CANCER |
| MLH1, MSH2, MSH6, PMS2, EPCAM | Mutation causes lynch syndrome CAN CAUSE OVARIAN, COLORECTAL, UTERINE. SKIN, PANCREATIC, GASTRIC PROSTATE AND OTHER CANCERS |
| APC (adenomatous polyposis coli) | Have either familial adenomatous polyposis syndrome (FAP) or attenuated familial adenomatous polyposis syndrome (AFAP) CAN CAUSE COLORECTAL, GASTRIC, ENDOCRINE, AND OTHER CANCERS |
| MUTYH (Biallelic) | _______ associated polyposis syndrome CAN CAUSE COLORECTAL, AND OTHER CANCERS |
| MUTYH (Monoallelic) | Carrier status for _____ associated polyposis syndrome |
| CDKN2A(p16INK4a), CDKN2A (p14ARF) | Melanoma-pancreatic cancer syndrome CAN CAUSE SKIN, AND PANCREATIC CANCER |
| CDK4 | Melanoma cancer syndrome CAN CAUSE SKIN, AND PANCREATIC CANCER |
| TP53 | Li-Fraumeni syndrome ***NO RADIATION THERAPY ALLOWED**** CAN CAUSE BREAST, COLORECTAL, UTERINE, SKIN, PANCREATIC, GASTRIC, PROSTATE, RENAL, AND OTHER CANCERS |
| PTEN | Hamartoma tumor syndrome CAN CAUSE BREAST, COLORECTAL, UTERINE, SKIN, RENAL, ENDOCRINE, AND OTHER CANCERS |
| STK11 | Peutz-Jeghers syndrome CAN CAUSE BREAST, OVARIAN, COLORECTAL, UTERINE, PANCREATIC, GASTRIC, LUNG, OTHER CANCERS |
| CDH1 | Hereditary diffuse gastric cancer syndrome CAN CAUSE BREAST, GASTRIC CANCER |
| BMPR1A, SMAD4 | Juvenile polyposis syndrome CAN CAUSE COLORECTAL, GASTRIC, OTHER CANCER |
| PALB2 | _____ is associated with increased risk for breast cancer Also is "pals" with BRACA2 CAN CAUSE BREAST, OVARIAN, PANCREATIC CANCER |
| CHEK2, CHEK2 (biallelic) (cell cycle checkpoint kinase 2) | Lifetime risk for primary breast cancer in females w/ _____ P/LP and familiar breast cancer has been estimated to range from 20% to 40% and is higher in females with a family history of breast CAN CAUSE BREAST, COLORECTAL CANCER |
| ATM (ataxia telangiectasia mutated) | _______-associated cancer risk P/LP variants may increase the risk for breast cancer CAN CAUSE BREAST, PANCREATIC, PROSTATE CANCER |
| BARD1 | _____ associated cancer risk women only CAN CAUSE BREAST CANCER |
| BRIP1 (BRACA1 interaction protein C-terminal helicase 1 gene) | -women only -CAN CAUSE OVARIAN CANCER |
| RAD51C, RAD51D | CAN CAUSE BREAST, OVARIAN CANCER -women only -recommended the removal of the ovaries in women between the age of 45 to 50 years of age |
| POLD1, POLE | Polymerase proofreading associated polyposis (PPAP) is caused by this gene mutation CAN CAUSE COLORECTAL CANCER |
| GREM1 | Hereditary mixed polyposis syndrome (HMPS) CAN CAUSE COLORECTAL CANCER |
| AXIN2 | _______-associated cancer risk CAN CAUSE COLORECTAL CANCER |
| HOXB13 | More aggressive prostate cancer men only this gene mutation also causes hand-foot-genital syndrome CAN CAUSE PROSTATE CANCER |
| NTHL1 (BIALLELIC) (endonuclease III-like 1) | when gene is working normal is in base excision repair and acts on the oxidized pyrimidine residues Biallelic ____ tumor syndrome (increased lifetime risk f colorectal cancer) CAN CAUSE BREAST, COLORECTAL, UTERINE, AND OTHER CANCERS |
| NTHL1 (MONOALLELIC) (endonuclease III-like 1) | when gene is working normal is in base excision repair and acts on the oxidized pyrimidine residues carrier status for _____ tumor syndrome |
| MSH3 (BIALLELIC) (MutS homolog 3) | associated polyposis syndrome CAN CAUSE COLORECTAL CANCER |
| MSH3 (MONOALLELIC) | carrier status associated polyposis syndrome |
| FH (Fumarate hydrase) | This gene when working normal makes an enzyme that helps cells in the body use oxygen and make energy causes Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) CAN CAUSE SKIN, RENAL, OTHER CANCERS |
| FLCN (Folliculin) | when this gene is working properly it helps cells to grow and divide inherited condition called Birt-Hogg-Dube syndrome (BHDS) CAN CAUSE SKIN, RENAL, OTHER CANCERS |
| MET (mesenchymal-epithelial transition) | Hepatocyte growth factor receptor is encoded by this gene when the gene is working properly gene mutation causes hereditary papillary renal carcinoma CAN CAUSE RENAL CANCER |
| TSC1/TSC2 (Tuberous sclerosis complex) | Benign tumors can occur throughout the body: skin, brain, kidney, lungs, and heart. People with this mutation frequently have epilepsy and conditions such as developmental delay and autism spectrum disorders. -CAN CAUSE RENAL, OTHER CANCERS |
| SDHA, SDHB, SDHC, SDHD | This gene is associated with hereditary pheochromocytoma- paraganglioma syndrome (Hereditary PPGL syndrome) -CAN CAUSE RENAL, ENDOCRINE, OTHER CANCERS |
| VHL | Von Hippel-Lindau syndrome This gene mutation is associated with tumors arising in multiple organs CAN CAUSE RENAL, ENDOCRINE, OTHER CANCERS |
| BAP1 | _____- tumor predisposition syndrome ( ______TPDS) mutations in this gene lead to the production of an altered protein that cannot function normally and may be broken down prematurely CAN CAUSE SKIN, RENAL, OTHERS |
| MITF (melanocyte inducing transcription factor) | gene mutation associated with Tietz Albinism-deafness syndrome, melanoma, cutaneous malignate 8 symptoms include profound hearing loss from birth, fair skin, and light colored hair CAN CAUSE SKIN CANCER |
| TERT (telomerase reverse transcriptase) | This gene mutation reduces/eliminates the function of telomerase which makes allows for telomeres to becomes abnormally short as cell divides CAN CAUSE SKIN, OTHER CANCERS |
| CTNNA1 | this gene when working correctly gives instructions for making alpha-1 catenin CAN CAUSE GASTRIC CANCER |
| EGFR (epidermal growth factor receptor) | Individuals with this gene mutation have an increased risk non-small cell lung cancer, NSCLC. The lung cancer risk appears to be higher in women than in men CAN CAUSE LUNG CANCER |
| MEN1 | when this gene is working properly it provides instructions for producing a protein called menin which acts as a tumor suppressor mutations in this gene cause multiple endocrine neoplasia type 1 CAN CAUSE ENDOCRINE, OTHER |
| RET | this gene mutation is associated with: -Multiple endocrine neoplasia type 2A (MEN2A) -Familial medullary thyroid cancer (FMTC) -Multiple endocrine neoplasia type 2B (MEN2B) CAN CAUSE ENDOCRINE, OTHER |
Created by:
borend2023
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