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Entre el 10 y el 15% de los cánceres más comunes se deben a mutaciones genéticas hereditarias. Saber que tenés una mutación que aumenta tu riesgo de padecer cáncer les permite a vos y a tu médico decidir qué plan personalizado es mejor para prevenir y detectar la enfermedad en una etapa más temprana, cuando es más fácil de tratar.
Tus familiares se benefician: saber que tenés una mutación genética es información importante para compartir con ellos. Le recomendamos el estudio a todos los familiares de aquellas personas en las que encontramos alguna mutación porque así podrán saber si la heredaron.
Análisis de 30 genes asociados a cáncer hereditario.
Analizamos 30 genes asociados a los cánceres hereditarios más comunes incluyendo: cáncer de mama, de ovario, colorrectal, melanoma, de páncreas, de próstata, de estómago y uterino.
OTROS PANELES:
Panel Completo de Cáncer Hereditario
| AIP | Pituitary adenoma, familial isolated |
| ALK | Neuroblastoma |
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| ATM | Ataxia-Telangiectasia, Breast cancer |
| AXIN2 | Oligodontia-colorectal cancer syndrome |
| BAP1 | Tumor predisposition syndrome |
| BARD1 | Breast cancer |
| BLM | Bloom syndrome |
| BMPR1A | Polyposis, juvenile intestinal |
| BRCA1 | Breast-ovarian cancer, familial, Pancreatic cancer |
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| BRIP1 | Breast cancer, Fanconi anemia |
| BUB1B | Mosaic variegated aneuploidy syndrome, Premature chromatid separation trait |
| CDC73 | Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome |
| CDH1 | CDH1-related cancer |
| CDK4 | Melanoma, cutaneous malignant |
| CDKN1B | Multiple endocrine neoplasia |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| CEBPA | Acute myeloid leukemia, familial |
| CEP57 | Mosaic variegated aneuploidy syndrome |
| CHEK2 | Li-Fraumeni syndrome |
| CYLD | Cylindromatosis, Spiegler-Brooke syndrome, Trichoepithelioma, multiple |
| DDB2 | Xeroderma pigmentosum |
| DICER1 | DICER1 syndrome |
| DIS3L2 | Perlman syndrome |
| DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
| EGFR | Acute myeloid leukemia, familial, Inflammatory skin and bowel disease, neonatal, Lung cancer, familial, susceptibilty to |
| ELANE | Neutropenia |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital |
| ERCC2 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC3 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC4 | Fanconi anemia, Xeroderma pigmentosum |
| ERCC5 | Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome |
| EXO1 | Lynch syndrome |
| EXT1 | Multiple cartilagenious exostoses 1 |
| EXT2 | Multiple cartilagenious exostoses 2 |
| EZH2 | Weaver syndrome |
| FANCA | Fanconi anemia |
| FANCB | Fanconi anemia |
| FANCC | Fanconi anemia |
| FANCD2 | Fanconi anemia |
| FANCE | Fanconi anemia |
| FANCF | Fanconia anemia |
| FANCG | Fanconi anemia |
| FANCI | Fanconi anemia |
| FANCL | Fanconi anemia |
| FANCM | Fanconi anemia |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FLCN | Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous |
| GATA2 | Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| GREM1 | Hereditary mixed polyposis syndrome |
| HNF1A | Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell |
| HOXB13 | Familial prostate cancer |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| KIT | Gastrointestinal stromal tumor |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| MAX | Pheochromocytoma |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| MET | Deafness, Renal cell carcinoma, papillary |
| MITF | Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MLH3 | Colorectal cancer, hereditary nonpolyposis, Endometrial carcinoma |
| MRE11A | Ataxia-telangiectasia-like disorder-1 |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| MUTYH | Colorectal adenomatous polyposis, with pilomatricomas, Familial adenomatous polyposis, |
| NBN | Breast cancer, Nijmegen breakage syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NF2 | Neurofibromatosis, Schwannomatosis |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| PALB2 | Breast cancer, Fanconi anemia, Pancreatic cancer |
| PHOX2B | Central hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to |
| PMS1 | Hereditary nonpolyposis colon cancer |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| POLD1 | Colorectal cancer |
| POLE | Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome) |
| PPM1D | Hereditary breast cancer |
| PRF1 | Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PTCH1 | Basal cell nevus syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAD50 | Breast cancer |
| RAD51C | Breast-ovarian cancer, familial, Fanconi anemia |
| RAD51D | Ovarian cancer, familial |
| RB1 | Retinoblastoma |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| RHBDF2 | Tylosis with esophageal cancer |
| RUNX1 | Platelet disorder, familial, with associated myeloid malignancy |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SDHAF2 | Paragangliomas |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SLX4 | Fanconi anemia |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| STK11 | Peutz-Jeghers syndrome |
| SUFU | Basal cell nevus syndrome, Medulloblastoma |
| TERC | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TERT | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TINF2 | Dyskeratosis congenita, Revesz syndrome |
| TMEM127 | Pheochromocytoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
| WRN | Werner syndrome |
| WT1 | Denys-Drash syndrome, Frasier syndrome, Wilms tumor |
| XPA | Xeroderma pigmentosum |
| XPC | Xeroderma pigmentosum |
| XRCC2 | Hereditary breast cancer |
Panel de Cáncer Endócrino Hereditario
| AIP | Pituitary adenoma, familial isolated |
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| CDC73 | Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome |
| CDKN1B | Multiple endocrine neoplasia |
| DICER1 | DICER1 syndrome |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| MAX | Pheochromocytoma |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| MET | Deafness, Renal cell carcinoma, papillary |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SDHAF2 | Paragangliomas |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| TMEM127 | Pheochromocytoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
| WRN | Werner syndrome |
Panel de Cáncer Gastrointestinal Hereditario
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| ATM | Ataxia-Telangiectasia, Breast cancer |
| AXIN2 | Oligodontia-colorectal cancer syndrome |
| BLM | Bloom syndrome |
| BMPR1A | Polyposis, juvenile intestinal |
| BRCA1 | Breast-ovarian cancer, familial, Pancreatic cancer |
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| BUB1B | Mosaic variegated aneuploidy syndrome, Premature chromatid separation trait |
| CDH1 | CDH1-related cancer |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital |
| FANCC | Fanconi anemia |
| GREM1 | Hereditary mixed polyposis syndrome |
| HNF1A | Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell |
| KIT | Gastrointestinal stromal tumor |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| MUTYH | Colorectal adenomatous polyposis, with pilomatricomas, Familial adenomatous polyposis, |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| PALB2 | Breast cancer, Fanconi anemia, Pancreatic cancer |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| POLD1 | Colorectal cancer |
| POLE | Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome) |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RHBDF2 | Tylosis with esophageal cancer |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| STK11 | Peutz-Jeghers syndrome |
| TMEM127 | Pheochromocytoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
Panel de Cáncer de Páncreas Hereditario
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| ATM | Ataxia-Telangiectasia, Breast cancer |
| BMPR1A | Polyposis, juvenile intestinal |
| BRCA1 | Breast-ovarian cancer, familial, Pancreatic cancer |
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| BUB1B | Mosaic variegated aneuploidy syndrome, Premature chromatid separation trait |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital |
| FANCC | Fanconi anemia |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| PALB2 | Breast cancer, Fanconi anemia, Pancreatic cancer |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| STK11 | Peutz-Jeghers syndrome |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
Panel de Cáncer Pediátrico Hereditario
| ALK | Neuroblastoma |
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| AXIN2 | Oligodontia-colorectal cancer syndrome |
| BAP1 | Tumor predisposition syndrome |
| BLM | Bloom syndrome |
| BMPR1A | Polyposis, juvenile intestinal |
| CDC73 | Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| CEBPA | Acute myeloid leukemia, familial |
| DICER1 | DICER1 syndrome |
| DIS3L2 | Perlman syndrome |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital |
| EZH2 | Weaver syndrome |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| GATA2 | Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| MAX | Pheochromocytoma |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| NBN | Breast cancer, Nijmegen breakage syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NF2 | Neurofibromatosis, Schwannomatosis |
| NSD1 | Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome |
| PHOX2B | Central hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| PRF1 | Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PTCH1 | Basal cell nevus syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RB1 | Retinoblastoma |
| RECQL4 | Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| RUNX1 | Platelet disorder, familial, with associated myeloid malignancy |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SDHAF2 | Paragangliomas |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| STK11 | Peutz-Jeghers syndrome |
| SUFU | Basal cell nevus syndrome, Medulloblastoma |
| TMEM127 | Pheochromocytoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
| WRN | Werner syndrome |
| WT1 | Denys-Drash syndrome, Frasier syndrome, Wilms tumor |
Panel de Cáncer de Pulmón Hereditario
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| EGFR | Acute myeloid leukemia, familial, Inflammatory skin and bowel disease, neonatal, Lung cancer, familial, susceptibilty to |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
Panel de Cáncer de Riñón Hereditario
| BAP1 | Tumor predisposition syndrome |
| CDC73 | Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome |
| CDKN1C | Beckwith-Wiedemann syndrome, IMAGE syndrome |
| DICER1 | DICER1 syndrome |
| DIS3L2 | Perlman syndrome |
| EPCAM | Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital |
| FH | Hereditary leiomyomatosis and renal cell cancer |
| FLCN | Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous |
| GPC3 | Simpson-Golabi-Behmel syndrome |
| HNF1A | Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell |
| MET | Deafness, Renal cell carcinoma, papillary |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
| WT1 | Denys-Drash syndrome, Frasier syndrome, Wilms tumor |
Panel de Cáncer de Tiroides Hereditario
| APC | Desmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome |
| CDC73 | Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome |
| DICER1 | DICER1 syndrome |
| MEN1 | Hyperparathyroidism, familial primary, Multiple endocrine neoplasia |
| PRKAR1A | Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| WRN | Werner syndrome |
Panel de Esclerosis Tuberosa
| TSC1 | Lymphangioleiomyomatosis, Tuberous sclerosis |
| TSC2 | Lymphangioleiomyomatosis, Tuberous sclerosis |
Panel de Leucemia Hereditaria
| ATM | Ataxia-Telangiectasia, Breast cancer |
| BLM | Bloom syndrome |
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| CEBPA | Acute myeloid leukemia, familial |
| DKC1 | Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
| ELANE | Neutropenia |
| FANCA | Fanconi anemia |
| GATA2 | Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| MLH1 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH2 | Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome |
| MSH6 | Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome |
| NBN | Breast cancer, Nijmegen breakage syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NRAS | Noonan syndrome |
| PMS2 | Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RUNX1 | Platelet disorder, familial, with associated myeloid malignancy |
| SBDS | Aplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome |
| TERC | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TERT | Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related |
| TINF2 | Dyskeratosis congenita, Revesz syndrome |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
Panel de Melanoma y Cáncer de Piel Hereditarios
| BAP1 | Tumor predisposition syndrome |
| BRCA1 | Breast-ovarian cancer, familial, Pancreatic cancer |
| BRCA2 | Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor |
| CDK4 | Melanoma, cutaneous malignant |
| CDKN2A | Melanoma, familial, Melanoma-pancreatic cancer syndrome |
| DDB2 | Xeroderma pigmentosum |
| ERCC2 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC3 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC4 | Fanconi anemia, Xeroderma pigmentosum |
| ERCC5 | Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome |
| MITF | Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome |
| PTCH1 | Basal cell nevus syndrome |
| PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome |
| RB1 | Retinoblastoma |
| SUFU | Basal cell nevus syndrome, Medulloblastoma |
| TP53 | Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma |
| WRN | Werner syndrome |
| XPA | Xeroderma pigmentosum |
| XPC | Xeroderma pigmentosum |
Panel de Neurofibromatosis
| KIT | Gastrointestinal stromal tumor |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NF2 | Neurofibromatosis, Schwannomatosis |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| SMARCB1 | Rhabdoid tumor predisposition syndrome, Schwannomatosis |
| SPRED1 | Legius syndrome |
Panel de Paraganglioma-Feocromocitoma Hereditario
| FH | Hereditary leiomyomatosis and renal cell cancer |
| MAX | Pheochromocytoma |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| RET | Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SDHAF2 | Paragangliomas |
| SDHB | Cowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| SDHC | Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas |
| SDHD | Carcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma |
| TMEM127 | Pheochromocytoma |
| VHL | Erythrocytosis, familial, Pheochromocytoma |
Panel de Retinoblastoma Hereditarioç
| RB1 | Retinoblastoma |
Panel de Xerodermia Pigmentosa
| DDB2 | Xeroderma pigmentosum |
| ERCC2 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC3 | Trichothiodystrophy, photosensitive, Xeroderma pigmentosum |
| ERCC4 | Fanconi anemia, Xeroderma pigmentosum |
| ERCC5 | Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome |
| XPA | Xeroderma pigmentosum |
| XPC | Xeroderma pigmentosum |
