GLOBAL HEREDITARY CANCER: CLINICAL EXOME PANEL (Sec. & CNVs) – 282 genes

Clinical exome panel designed for the genetic study of patients with suspected hereditary predisposition to cancer. This panel covers a broad set of genes associated with familial syndromes and monogenic forms of cancer, allowing the identification of pathogenic variants and copy number variations (CNVs) involved in the early or recurrent development of tumors in different locations. It includes the analysis of key genes related to major tumor predisposition syndromes, such as hereditary breast and ovarian cancer syndrome (BRCA1, BRCA2, PALB2, BRIP1), Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Peutz-Jeghers syndrome (STK11), familial polyposis (APC, MUTYH), von Hippel-Lindau syndrome (VHL), paraganglioma-pheochromocytoma syndrome (SDHB, SDHC, SDHD), multiple endocrine neoplasia syndrome (MEN1, RET) and melanoma predisposition syndrome (CDKN2A, CDK4), among others. The study also includes genes involved in DNA repair, genomic stability, cell cycle control, and oncogenic signaling, such as ATM, CHEK2, RAD51, RAD51C, RAD51D, NBN, BARD1, PTCH1, SMAD4, TSC1, TSC2, NF1, NF2, RB1, SUFU, BAP1, POLE, POLD1, MRE11, ATR, FANCA, FANCG, FANCM, WRN, and others. Genetic analysis using this panel allows for the confirmation of a hereditary predisposition to cancer, optimization of prevention and early detection strategies, identification of at-risk family members, guidance of personalized clinical management, and determination of eligibility for targeted therapies or immunotherapies based on the patient's genetic profile. To learn more about the complete panel of genes studied, please contact Genótica.