Oncology

It is estimated that up to 15% of all tumors are hereditary, i.e., they are the result of germline mutations in specific genes that increase the susceptibility to cancer.

DG Hereditary Cancer I: 204 genes

ACD, AIP, AKT1, ALK, AMER1, APC, AR, ASXL1, ATM, ATR, ATRIP, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CBL, CCND1, CDC73, CDH1, CDH23, CDK4, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2B, CDKN2C, CHEK2, CTC1, CTNNA1, CTR9, CYLD, DDB2, DICER1, DIS3L2, DKC1, DLST, DNMT3A, EHBP1, ELAC2, ENG, EPAS1, EPCAM, EPHB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, FOXE1, GALNT12, GDNF, GPC3, GPC4, GPR101, GREM1, HABP2, HMMR, HNF1B, HOXB13, HRAS, KDM3B, KIF1B, KIT, KLLN, KRAS, LZTR1, MAD2L2, MAP2K1, MAP2K2, MAP3K6, MAX, MBD4, MC1R, MDH2, MEN1, MET, MGMT, MINPP1, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MSMB, MSR1, MUTYH, NBN, NF1, NF2, NKX2-1, NRAS, NSD1, NTHL1, NTRK1, PALB2, PALLD, PARN, PAX6, PDGFRA, PHB1, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, POU6F2, PPP1CB, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, RABL3, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAF1, RASA1, RB1, RECQL4, REST, RET, RFWD3, RIT1, RNASEL, RNF43, RPS20, RTEL1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SHOC2, SLC25A11, SLC5A5, SLX4, SMAD4, SMAD7, SMARCA4, SMARCB1, SMARCE1, SMO, SOS1, SOS2, SPRED1, SRD5A2, SRGAP1, STK11, SUFU, TERF2IP, TERT, TGFBR2, TINF2, TLR2, TMEM127, TP53, TRIM28, TRIM37, TRIP13, TSC1, TSC2, UBE2T, USF3, VHL, WRAP53, WRN, WT1, WWP1, XPA, XPC, XRCC2, XRCC3.

Cancer is a disorder of cell proliferation caused by genetic alterations. About 15% of all tumors are hereditary in nature; that is, they result from germline variants in specific genes that increase the risk of developing certain types of tumors. These variants can be passed down among family members according to different patterns of inheritance. Genetic testing for hereditary cancer is essential for selecting the most appropriate treatment and clinical management for the patient and enables the implementation of necessary tools for early detection and prevention in carrier relatives.

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Gynecological Tumors I: 1 study

Breast and ovarian cancer is the most common type of cancer in women. In 5–10% of cases, there is a hereditary component due to germline variants in the BRCA1 and BRCA2 genes. In addition to these, other genes have been identified that are also associated with an increased risk of developing breast and ovarian cancer, and these have been included in this study.
ATM, ATRIP, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCC, FANCM, HMMR, MEN1, MLH1, MLH3, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PHB1, PMS2, PTEN, RAD50, RAD51B, RAD51C, RAD51D, SMARCA4, STK11, TP53, XRCC2, XRCC3.
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Colorectal tumors I 1 study

Colorectal cancer is one of the most common cancers in the general population, and it is estimated that between 20% and 30% of these tumors are hereditary. They can be divided into polyposis and non-polyposis syndromes. We offer a targeted exome test in which we analyze the main genes associated with both types of syndromes that predispose individuals to colon cancer.
APC, ATM, AXIN2, BMPR1A, BLM, CCND1, CHEK2, CDH1, ENG, EPCAM, FLCN, GALNT12, GREM1, MBD4, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, SMAD7, STK11, TGFBR2, TLR2, TP53.
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Gastric tumors I 2 studies

Gastric cancer is sporadic in most cases, although it is estimated that between 1% and 3% of cases have a hereditary component. Among the syndromes that increase this risk, diffuse hereditary gastric cancer stands out, in which approximately 50% of affected families have mutations in the CDH1 gene. We offer a targeted exome test in which we examine this and other genes associated with an increased risk of gastrointestinal neoplasms, as well as a targeted exome test to study genes associated with a predisposition to developing pancreatic tumors.
APC, ATM, BMPR1A, BRCA2, CDH1, CTNNA1, EPCAM, KIT, MAP3K6, MLH1, MSH2, MSH6, MUTYH, PDGFRA, PMS2, SDHA, SDHB, SDHC, SDHD, STK11, SMAD4, TP53.

ATM, BRCA1, BRCA2, CDK4, CDKN2A, KRAS, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, RABL3, STK11, SMAD4, TP53.

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Genitourinary Tumors I: 2 studies

Kidney cancer accounts for approximately 3% of all tumors in the body. Although most cases are sporadic, there are hereditary syndromes that increase the risk of developing this disease. Prostate cancer is a genetically heterogeneous disease, and germline variants have been identified in approximately 10–15% of patients. We approach the study of both types of neoplasms using targeted exome sequencing specific to each.

BAP1, CDKN2B, FH, FLCN, MET, MITF, PTEN, PRCC, SDHB, SDHC, SDHD, VHL, TMEM127.
ATM, AR, BRCA1, BRCA2, CDH1, CHEK2, CTNNA1, EHBP1, ELAC2, EPCAM, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2, STK11.
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Endocrine Tumors I: 1 study

Endocrine tumors originate in cells that produce and release hormones regulated by signals from the nervous system or the body itself. In this targeted exome analysis, we examine genes associated with a predisposition to multiple endocrine neoplasia, medullary and non-medullary thyroid cancer, and hereditary pheochromocytoma-paraganglioma, among others.
AIP, APC, CDH23, CDKN1A, CDKN1B, CDKN2B, CDKN2C, DICER1, DLST, DNMT3A, EPAS1, ESR2, FH, FOXE1, GPR101, HABP2, KIF1B, MAX, MDH2, MEN1, MINPP1, MSH2, NF1, NKX2-1, NTRK1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLC5A5, SRGAP1, TMEM127, VHL, WRN.
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Skin Cancer I 1 study

Among skin cancers, melanoma is the most aggressive subtype. This targeted exome analysis examines genes associated with a predisposition to developing melanoma, including the CDKN2A gene, which is implicated in approximately 20–40% of familial cases, as well as other genes linked to various types of skin cancer.

ACD, BRCA1, BRCA2, BAP1, CDKN2A, CDKN2B, CDK4, CYLD, DDB2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, MBD4, MC1R, MGMT, MITF, MLH1, MSH2, MSH6, PMS2, POLH, POT1, PTCH1, PTCH2, PTEN, RASA1, RB1, SMO, SUFU, TERF2IP, TERT, TP53, XPA, XPC, XRCC3.
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Cancer predisposition syndromes I: 5 studies

Cancer susceptibility syndromes refer to hereditary disorders in which there is a higher-than-normal risk of developing certain types of cancer, and a specific pattern of cancer occurrence within the family is observed. Most are extremely rare in the general population, but together they account for approximately 5–10% of all cancer cases. We offer testing for various cancer susceptibility syndromes, including Li-Fraumeni syndrome and Gorlin syndrome.
RB1.
TP53, CHEK2.
PTCH1, SUFU.
STK11.
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC.
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