Hereditary cancer refers to cancers that are passed down from one generation to another through gene mutations. These inherited mutations significantly increase the risk of certain types of cancer, making early detection and preventive measures crucial. Identifying these mutations through genetic testing can help at-risk individuals take proactive steps to manage their cancer risk.
Hereditary cancers account for approximately 5-10% of all cancers. Individuals with a family history of cancer, particularly those who have relatives diagnosed with cancer at an early age, multiple family members with the same or related types of cancer, or cases of rare cancers, may be at a higher risk due to inherited genetic mutations.
Common Hereditary Cancers: Breast, ovarian, colorectal, prostate, and pancreatic cancers are among the most commonly associated with hereditary cancer syndromes. Syndromes like Lynch syndrome and BRCA1/BRCA2 mutations are well-known examples that significantly increase the risk of cancer in affected individuals.
Genetic Syndromes: Several genetic syndromes are associated with hereditary cancers, including:
Lynch Syndrome: Increases the risk of colorectal cancer and other cancers such as uterine, ovarian, and stomach cancers.
BRCA1/BRCA2 Mutations: Primarily associated with an increased risk of breast and ovarian cancers, but also linked to prostate and pancreatic cancers.
Familial Adenomatous Polyposis (FAP): Leads to hundreds of polyps in the colon and rectum, with a high risk of developing into colorectal cancer.
Li-Fraumeni Syndrome: Increases the risk of multiple cancer types, including breast cancer, brain tumors, and sarcomas.
Genetic testing for hereditary cancer mutations allows for early detection and proactive management of cancer risks. Individuals who test positive for specific mutations can benefit from increased surveillance, lifestyle changes, and preventive measures, such as prophylactic surgeries or chemoprevention.
Identifying hereditary cancer mutations can inform treatment decisions, including the use of targeted therapies that are more effective for certain genetic profiles. For example, PARP inhibitors are particularly effective in treating cancers associated with BRCA mutations.
Knowledge of hereditary cancer risk can influence family planning decisions, including the use of preimplantation genetic diagnosis (PGD) during in vitro fertilization (IVF) to prevent the transmission of harmful mutations to offspring.
Genetic testing provides a comprehensive assessment of cancer risk, allowing healthcare providers to create personalized screening and prevention plans tailored to the individual's genetic profile.
This panel screens for a wide array of genetic mutations linked to various hereditary cancers, providing a broad assessment of cancer risk.
Genes: APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FH, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RET, SMAD4, STK11, TP53, VHL
Focuses on genes commonly associated with hereditary breast cancer, including BRCA1, BRCA2, and others, to guide risk management strategies.
Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53
Identifies mutations associated with an increased risk of ovarian cancer, helping guide preventive measures and treatment options.
Genes: BARD1, BRCA1, BRCA2, BRIP1, CDH1, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Screens for genetic mutations linked to uterine cancer, particularly useful for women with a family history of gynecological cancers.
Genes: EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53
Detects mutations associated with hereditary colorectal cancer syndromes, such as Lynch syndrome and FAP.
Genes: APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Identifies genetic mutations that increase the risk of pancreatic cancer, aiding in early detection and targeted therapy options.
Genes: APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, PALB2, SMAD4, STK11, TP53
Specifically focuses on genes associated with Lynch syndrome, a major cause of hereditary colorectal and endometrial cancers.
Genes: EPCAM, MLH1, MSH2, MSH6, PMS2
Tests for genetic mutations linked to myeloid cancers, such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).
Genes: CEBPA, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA2, NSD1, RUNX1, SBDS, TP53
Provides the most extensive analysis of genetic mutations associated with hereditary cancers, covering a broad spectrum of cancer types.
Genes: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2
Genes: BRCA1, BRCA2
Genes: ABCC8, ADRB2, ADRB3, AGRP, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, CARTPT, CEL, CEP290, EIF2AK3, ENPP1, FOXP3, GCK, GHRL, GLIS3, GNAS, HNF1A, HNF1B, HNF4A, INS, KCNJ11, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NEUROD1, NEUROG3, NTRK2, PCSK1, PDX1, POMC, PPARG, PPARGC1B, PTF1A, PYY, RFX6, SDC3, SDCCAG8, SIM1, TRIM32, TTC8, UCP1, UCP3, WDPCP, WFS1
Genes: APOE, APP, ATP13A2, ATP1A3, C9orf72, CSF1R, DCTN1, DNMT1, EIF4G1, FBXO7, GBA, GCH1, GRN, HTRA2, LRRK2, MAPT, NOTCH3, PARK7, PINK1, PLA2G6, POLG, PRKN, PRKRA, PRNP, PSEN1, PSEN2, SLC6A3, SNCA, SNCB, TAF1, TH, TREM2, TYROBP, UCHL1, VPS35
Genes: APOE, APP, C9orf72, CSF1R, DNMT1, EIF4G1, GBA, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, TREM2, TYROBP
Genes: ACADM, ASPA, ASS1, BLM, CFTR, CLN3, DHCR7, DMD, ELP1, FAH, FANCC, FMR1, G6PC, GAA, GALT, GBA, HBA1, HBA2, HBB, HEXA, IDUA, IVD, MMACHC, PAH, PEX1, PEX7, PKHD1, PMM2, SMN1, SMPD1
Genes: ACADM, ASPA, ASS1, BLM, CFTR, CLN3, DHCR7, ELP1, FAH, FANCC, G6PC, GAA, GALT, GBA, HBA1, HBA2, HBB, HEXA, IDUA, IVD, MMACHC, PAH, PEX1, PEX7, PKHD1, PMM2, SMN1, SMPD1
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