Cánceres Hereditarios

GendaColor

 

CÁNCER HEREDITARIO DE MAMA Y OVARIO.

CÁNCER DE COLON.

CÁNCER HEREDITARIO DE PÁNCREAS.

MELANOMA.

CÁNCER HEREDITARIO DE ESTÓMAGO.

CÁNCER HEREDITARIO DE PRÓSTATA.

 

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, colorrectal, melanoma, de páncreas, de próstata, de ovario, de estómago y uterino.

 

 

 

Conozca Más

sobre el estudio genético para cáncer de mama y ovario hereditario.

 

OTROS PANELES:

 

Panel Completo de Cáncer Hereditario
AIPPituitary adenoma, familial isolated
ALKNeuroblastoma
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
ATMAtaxia-Telangiectasia, Breast cancer
AXIN2Oligodontia-colorectal cancer syndrome
BAP1Tumor predisposition syndrome
BARD1Breast cancer
BLMBloom syndrome
BMPR1APolyposis, juvenile intestinal
BRCA1Breast-ovarian cancer, familial, Pancreatic cancer
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
BRIP1Breast cancer, Fanconi anemia
BUB1BMosaic variegated aneuploidy syndrome, Premature chromatid separation trait
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
CDH1CDH1-related cancer
CDK4Melanoma, cutaneous malignant
CDKN1BMultiple endocrine neoplasia
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
CEBPAAcute myeloid leukemia, familial
CEP57Mosaic variegated aneuploidy syndrome
CHEK2Li-Fraumeni syndrome
CYLDCylindromatosis, Spiegler-Brooke syndrome, Trichoepithelioma, multiple
DDB2Xeroderma pigmentosum
DICER1DICER1 syndrome
DIS3L2Perlman syndrome
DKC1Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
EGFRAcute myeloid leukemia, familial, Inflammatory skin and bowel disease, neonatal, Lung cancer, familial, susceptibilty to
ELANENeutropenia
EPCAMColorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital
ERCC2Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC3Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC4Fanconi anemia, Xeroderma pigmentosum
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
EXO1Lynch syndrome
EXT1Multiple cartilagenious exostoses 1
EXT2Multiple cartilagenious exostoses 2
EZH2Weaver syndrome
FANCAFanconi anemia
FANCBFanconi anemia
FANCCFanconi anemia
FANCD2Fanconi anemia
FANCEFanconi anemia
FANCFFanconia anemia
FANCGFanconi anemia
FANCIFanconi anemia
FANCLFanconi anemia
FANCMFanconi anemia
FHHereditary leiomyomatosis and renal cell cancer
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous
GATA2Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome
GPC3Simpson-Golabi-Behmel syndrome
GREM1Hereditary mixed polyposis syndrome
HNF1ALiver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell
HOXB13Familial prostate cancer
HRASCongenital myopathy with excess of muscle spindles, Costello syndrome
KITGastrointestinal stromal tumor
KRASCardiofaciocutaneous syndrome, Noonan syndrome
MAXPheochromocytoma
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
METDeafness, Renal cell carcinoma, papillary
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MLH3Colorectal cancer, hereditary nonpolyposis, Endometrial carcinoma
MRE11AAtaxia-telangiectasia-like disorder-1
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
MUTYHColorectal adenomatous polyposis, with pilomatricomas, Familial adenomatous polyposis,
NBNBreast cancer, Nijmegen breakage syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NF2Neurofibromatosis, Schwannomatosis
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
PALB2Breast cancer, Fanconi anemia, Pancreatic cancer
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to
PMS1Hereditary nonpolyposis colon cancer
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
POLD1Colorectal cancer
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PPM1DHereditary breast cancer
PRF1Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PTCH1Basal cell nevus syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
RAD50Breast cancer
RAD51CBreast-ovarian cancer, familial, Fanconi anemia
RAD51DOvarian cancer, familial
RB1Retinoblastoma
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
RHBDF2Tylosis with esophageal cancer
RUNX1Platelet disorder, familial, with associated myeloid malignancy
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
SDHADilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas
SDHAF2Paragangliomas
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SLX4Fanconi anemia
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
STK11Peutz-Jeghers syndrome
SUFUBasal cell nevus syndrome, Medulloblastoma
TERCAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TERTAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TINF2Dyskeratosis congenita, Revesz syndrome
TMEM127Pheochromocytoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
VHLErythrocytosis, familial, Pheochromocytoma
WRNWerner syndrome
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor
XPAXeroderma pigmentosum
XPCXeroderma pigmentosum
XRCC2Hereditary breast cancer
Panel de Cáncer Endócrino Hereditario
AIPPituitary adenoma, familial isolated
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
CDKN1BMultiple endocrine neoplasia
DICER1DICER1 syndrome
FHHereditary leiomyomatosis and renal cell cancer
MAXPheochromocytoma
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
METDeafness, Renal cell carcinoma, papillary
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SDHADilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas
SDHAF2Paragangliomas
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
TMEM127Pheochromocytoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
VHLErythrocytosis, familial, Pheochromocytoma
WRNWerner syndrome
Panel de Cáncer Gastrointestinal Hereditario
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
ATMAtaxia-Telangiectasia, Breast cancer
AXIN2Oligodontia-colorectal cancer syndrome
BLMBloom syndrome
BMPR1APolyposis, juvenile intestinal
BRCA1Breast-ovarian cancer, familial, Pancreatic cancer
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
BUB1BMosaic variegated aneuploidy syndrome, Premature chromatid separation trait
CDH1CDH1-related cancer
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
EPCAMColorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital
FANCCFanconi anemia
GREM1Hereditary mixed polyposis syndrome
HNF1ALiver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell
KITGastrointestinal stromal tumor
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
MUTYHColorectal adenomatous polyposis, with pilomatricomas, Familial adenomatous polyposis,
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
PALB2Breast cancer, Fanconi anemia, Pancreatic cancer
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
POLD1Colorectal cancer
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RHBDF2Tylosis with esophageal cancer
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
STK11Peutz-Jeghers syndrome
TMEM127Pheochromocytoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
VHLErythrocytosis, familial, Pheochromocytoma
Panel de Cáncer de Páncreas Hereditario
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
ATMAtaxia-Telangiectasia, Breast cancer
BMPR1APolyposis, juvenile intestinal
BRCA1Breast-ovarian cancer, familial, Pancreatic cancer
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
BUB1BMosaic variegated aneuploidy syndrome, Premature chromatid separation trait
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
EPCAMColorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital
FANCCFanconi anemia
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
PALB2Breast cancer, Fanconi anemia, Pancreatic cancer
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
STK11Peutz-Jeghers syndrome
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
VHLErythrocytosis, familial, Pheochromocytoma
Panel de Cáncer Pediátrico Hereditario
ALKNeuroblastoma
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
AXIN2Oligodontia-colorectal cancer syndrome
BAP1Tumor predisposition syndrome
BLMBloom syndrome
BMPR1APolyposis, juvenile intestinal
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
CEBPAAcute myeloid leukemia, familial
DICER1DICER1 syndrome
DIS3L2Perlman syndrome
EPCAMColorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital
EZH2Weaver syndrome
FHHereditary leiomyomatosis and renal cell cancer
GATA2Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome
GPC3Simpson-Golabi-Behmel syndrome
HRASCongenital myopathy with excess of muscle spindles, Costello syndrome
MAXPheochromocytoma
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
NBNBreast cancer, Nijmegen breakage syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NF2Neurofibromatosis, Schwannomatosis
NSD1Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
PRF1Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis, Lymphoma, non-Hodgkin
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PTCH1Basal cell nevus syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RB1Retinoblastoma
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
RUNX1Platelet disorder, familial, with associated myeloid malignancy
SDHADilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas
SDHAF2Paragangliomas
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SMAD4Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
STK11Peutz-Jeghers syndrome
SUFUBasal cell nevus syndrome, Medulloblastoma
TMEM127Pheochromocytoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
VHLErythrocytosis, familial, Pheochromocytoma
WRNWerner syndrome
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor
Panel de Cáncer de Pulmón Hereditario
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
EGFRAcute myeloid leukemia, familial, Inflammatory skin and bowel disease, neonatal, Lung cancer, familial, susceptibilty to
TP53Adrenocortical 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
BAP1Tumor predisposition syndrome
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndrome
DICER1DICER1 syndrome
DIS3L2Perlman syndrome
EPCAMColorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital
FHHereditary leiomyomatosis and renal cell cancer
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous
GPC3Simpson-Golabi-Behmel syndrome
HNF1ALiver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell
METDeafness, Renal cell carcinoma, papillary
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
VHLErythrocytosis, familial, Pheochromocytoma
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor
Panel de Cáncer de Tiroides Hereditario
APCDesmoid disease, hereditary, Familial adenomatous polyposis, Gardner syndrome
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
DICER1DICER1 syndrome
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
PRKAR1AAcrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
WRNWerner syndrome
Panel de Esclerosis Tuberosa
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
Panel de Leucemia Hereditaria
ATMAtaxia-Telangiectasia, Breast cancer
BLMBloom syndrome
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
CEBPAAcute myeloid leukemia, familial
DKC1Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
ELANENeutropenia
FANCAFanconi anemia
GATA2Acute myeloid leukemia, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Emberger syndrome, Immunodeficiency, Myelodysplastic syndrome
HRASCongenital myopathy with excess of muscle spindles, Costello syndrome
KRASCardiofaciocutaneous syndrome, Noonan syndrome
MLH1Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH2Colorectal cancer, hereditary nonpolyposis,, Endometrial cancer, Mismatch repair cancer syndrome, Muir-Torre syndrome
MSH6Colorectal cancer, hereditary nonpolyposis, Endometrial cancer, Mismatch repair cancer syndrome
NBNBreast cancer, Nijmegen breakage syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NRASNoonan syndrome
PMS2Colorectal cancer, hereditary nonpolyposis, Mismatch repair cancer syndrome
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
RUNX1Platelet disorder, familial, with associated myeloid malignancy
SBDSAplastic anemia, Severe spondylometaphyseal dysplasia, Shwachman-Diamond syndrome
TERCAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TERTAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TINF2Dyskeratosis congenita, Revesz syndrome
TP53Adrenocortical 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
BAP1Tumor predisposition syndrome
BRCA1Breast-ovarian cancer, familial, Pancreatic cancer
BRCA2Breast-ovarian cancer, familial, Fanconi anemia, Glioma susceptibility, Medulloblastoma, Pancreatic cancer, Wilms tumor
CDK4Melanoma, cutaneous malignant
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndrome
DDB2Xeroderma pigmentosum
ERCC2Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC3Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC4Fanconi anemia, Xeroderma pigmentosum
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
MITFMelanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome
PTCH1Basal cell nevus syndrome
PTENBannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Lhermitte-Duclos syndrome
RB1Retinoblastoma
SUFUBasal cell nevus syndrome, Medulloblastoma
TP53Adrenocortical carcinoma, Breast cancer, familial, Choroid plexus papilloma, Colorectal cancer, Ependymoma, intracranial, Hepatoblastoma, Li-Fraumeni syndrome, Non-Hodgkin lymphoma, Osteogenic sarcoma
WRNWerner syndrome
XPAXeroderma pigmentosum
XPCXeroderma pigmentosum
Panel de Neurofibromatosis
KITGastrointestinal stromal tumor
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NF2Neurofibromatosis, Schwannomatosis
PTPN11LEOPARD syndrome, Metachondromatosis, Noonan syndrome
RAF1Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome
SMARCB1Rhabdoid tumor predisposition syndrome, Schwannomatosis
SPRED1Legius syndrome
Panel de Paraganglioma-Feocromocitoma Hereditario
FHHereditary leiomyomatosis and renal cell cancer
MAXPheochromocytoma
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
SDHADilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas
SDHAF2Paragangliomas
SDHBCowden-like syndrome, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
SDHCGastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas
SDHDCarcinoid tumors, intestinal, Cowden syndrome, Paraganglioma and gastric stromal sarcoma, Paragangliomas, Pheochromocytoma
TMEM127Pheochromocytoma
VHLErythrocytosis, familial, Pheochromocytoma
Panel de Retinoblastoma Hereditarioç
RB1Retinoblastoma
Panel de Xerodermia Pigmentosa
DDB2Xeroderma pigmentosum
ERCC2Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC3Trichothiodystrophy, photosensitive, Xeroderma pigmentosum
ERCC4Fanconi anemia, Xeroderma pigmentosum
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome
XPAXeroderma pigmentosum
XPCXeroderma pigmentosum

 

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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