El Panel de Precisión de Sensibilidad Cáncer de Igenomix está indicado en aquellos casos en los que exista:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
|
APC |
APC-related attenuated Familial Adenomatous Polyposis, Cenani-Lenz Syndrome, Colorectal Cancer, Hereditary Desmoid disease, Desmoid Tumor, Familial Adenomatous Polyposis 1, Familial Adenomatous Polyposis due to 5q22.2 microdeletion, Gardner syndrome, Gastric cancer, Hepatocellular carcinoma, Turcot syndrome with polyposis |
AD |
98.92 |
1846 of 1882 |
|
|
ATM |
Ataxia-telangiectasia, Breast Cancer, Mantle Cell lymphoma |
AD,AR |
99.93 |
1608 of 1632 |
|
|
AXIN2 |
AXIN2-related attenuated Familial Adenomatous Polyposis, Colorectal Cancer, Oligodontia-Colorectal Cancer Syndrome |
AD |
99.86 |
32 of 33 |
|
|
BAP1 |
Familial Melanoma, Meningioma, Tumor Predisposition Syndrome, Uveal Melanoma |
AD |
100 |
194 of 195 |
|
|
BARD1 |
Breast Cancer, Hereditary Breast and Ovarian Cancer syndrome |
AD |
99.86 |
195 of 195 |
|
|
BMPR1A |
Familial Colorectal Cancer Type X, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Mixed Polyposis syndrome, Juvenile Polyposis of Infancy, Juvenile Polyposis Syndrome |
AD |
100 |
124 of 127 |
|
|
BRCA1 |
Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group S, Hereditary Breast and Ovarian Cancer syndrome, Primary Peritoneal Carcinoma |
AD,AR,MU |
98.97 |
2783 of 2894 |
|
|
BRCA2 |
Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group D1, Glioma 3, Hereditary Breast and Ovarian Cancer syndrome, Medulloblastoma, Nephroblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor 1 |
AD,AR,MU |
98.51 |
3343 of 3451 |
|
|
BRIP1 |
Breast Cancer, Fanconi Anemia Complementation Group J, Hereditary Breast and Ovarian Cancer syndrome |
AD,AR |
94.97 |
235 of 237 |
|
|
CDH1 |
Blepharo-Cheilo-Odontic syndrome, Breast Cancer, Cleft lip/palate, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer, Suppressor of Tumorigenicity 8 |
AD |
100 |
361 of 363 |
|
|
CDK4 |
Familial Melanoma, Cutaneous Malignant Melanoma, Well-differentiated Liposarcoma |
AD |
100 |
22 of 22 |
|
|
CDKN2A |
Familial Melanoma, Familial Pancreatic Carcinoma, Li-Fraumeni syndrome, Melanoma-Astrocytoma Syndrome, Melanoma-Pancreatic Cancer Syndrome, Cutaneous Malignant Melanoma |
AD |
94.99 |
257 of 262 |
|
|
CHEK2 |
Breast Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome 2, Osteosarcoma, Prostate Cancer |
AD |
99.47 |
307 of 310 |
|
|
EPCAM |
Colorectal Cancer, Hereditary Nonpolyposis type 8, Congenital Diarrhea 5 with Tufting Enteropathy, Lynch Syndrome |
AR |
99.94 |
52 of 70 |
|
|
FANCC |
Fanconi Anemia Complementation Group C |
AR |
100 |
75 of 75 |
|
|
FANCM |
Fanconi Anemia, Male infertility with azoospermia or oligozoospermia due to single gene mutation, Premature Ovarian Failure 15, Spermatogenic Failure 28 |
AR |
99.73 |
59 of 61 |
|
|
FH |
Fumarase Deficiency, Hereditary Leiomyomatosis and Renal Cell Cancer, Hereditary Pheochromocytoma-Paraganglioma, Multiple Hereditary Leiomyoma of Skin |
AD,AR |
100 |
229 of 232 |
|
|
FLCN |
Birt-Hogg-Dube Syndrome, Colorectal Cancer, Familial Spontaneous Pneumothorax, Primary Spontaneous Pneumothorax, Potocki-Lupski Syndrome, Nonpapillary Renal Cell Carcinoma |
AD |
100 |
200 of 205 |
|
|
HOXB13 |
Hereditary Prostate Cancer 9 |
|
100 |
5 of 5 |
|
|
MEN1 |
Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma |
AD |
99.9 |
871 of 876 |
|
|
MET |
Autosomal Recessive Deafness 97, Hepatocellular Carcinoma, Osteofibrous Dysplasia, Pediatric Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma |
AD,AR |
99.8 |
41 of 41 |
|
|
MITF |
Coloboma, Osteopetrosis, Microphthalmia, Macrcephaly, Albinism and Deafness, Familial Melanoma, Cutaneous Malignant Melanoma 8, Tietz Syndrome, Waardenburg Syndrome Type 2A, Waardenburg-Shah Syndrome |
AD,AR |
100 |
72 of 72 |
|
|
MLH1 |
Colorectal Cancer, Hereditary Nonpolyposis Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.94 |
1079 of 1118 |
|
|
MSH2 |
Lynch syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.99 |
1032 of 1057 |
|
|
MSH6 |
Colorectal Cancer, Hereditary Nonpolyposis Type 5, Endometrial Carcinoma, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome |
AD,AR |
99.28 |
613 of 641 |
|
|
MUTYH |
Familial Adenomatous Polyposis 2, Gastric Cancer, MUTYH-Related attenuated Familial Adenomatous Polyposis |
AR |
100 |
183 of 183 |
|
|
NBN |
Aplastic Anemia, Hereditary Breast and Ovarian Cancer Syndrome, Acute Lymphocytic Leukemia, Nijmegen Breakage Syndrome |
AR,MU,P |
100 |
200 of 200 |
|
|
NF1 |
17q11.2 Microduplication Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Juvenile Myelomonocytic Leukemia, Neurofibromatosis Type 1 due to NF1 mutation or intragenic deletion, Neurofibromatosis-Noonan syndrome, Familial Spinal Neurofibromatosis, Watson Syndrome |
AD |
97.97 |
3082 of 3166 |
|
|
NTHL1 |
Familial Adenomatous Polyposis 3, NTHL1-Related attenuated Familial Adenomatous Polyposis |
AR |
100 |
13 of 13 |
|
|
PALB2 |
Breast Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group N, Hereditary Breast and Ovarian Cancer Syndrome |
AD,AR |
98.78 |
601 of 617 |
|
|
PC |
Pyruvate Carboxylase Deficiency |
AR |
100 |
48 of 48 |
|
|
PMS2 |
Colorectal Cancer, Hereditary Nonpolyposis Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome |
AD,AR |
97.17 |
264 of 285 |
|
|
POLD1 |
Colorectal Cancer 10, Mandibular Hypoplasia, Deafness, Progeroid Features and Lipodystrophy Syndrome, Polymerase proofreading-related Adenomatous Polyposis |
AD |
100 |
40 of 41 |
|
|
POLE |
Colorectal Cancer 12, Facial Dysmorphism, Immunodeficiency, Livedo and Short Stature, IMAGe Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies and Immunodeficiency, Polymerase proofreading-related Adenomatous Polyposis |
AD,AR |
100 |
100 of 100 |
|
|
POT1 |
Familial melanoma, Glioma 9, Cutaneous Malignanty Melanoma |
AD |
99.76 |
42 of 47 |
|
|
PTEN |
Bannayan-Riley-Ruvalcaba syndrome, Cowden Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, Juvenile Polyposis of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familial Meningioma, Prostate Cancer, Proteus Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
AD |
99.97 |
609 of 629 |
|
|
RAD51C |
Familial Breast-Ovarian Cancer-1, Fanconi Anemia Complementation Group O, Hereditary Breast and Ovarian Cancer Syndrome |
AR |
100 |
130 of 130 |
|
|
RAD51D |
Hereditary Breast and Ovarian Cancer Syndrome |
|
100 |
97 of 97 |
|
|
RECQL |
Rapadilino Syndrome, Osteoarcoma, Lymphoma |
|
99.71 |
32 of 34 |
|
|
RET |
Congenital Failure of Autonomic Control, Haddad Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Hirschsprung Disease, Multiple Endocrine Neoplasia type 2A and 2B, Pheochromocytoma, Bilateral Renal Agenesis, Sporadic Pheochromocytoma/Secreting Paraganglioma, Familial Medullary Thyroid Carcinoma |
AD |
100 |
453 of 454 |
|
|
SCG5 |
Hereditary Mixed Polyposis syndrome |
|
100 |
na of na |
|
|
SDHB |
Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Paragangliomas 4, Pheochromocytoma, Sporadic Pheochromocytoma/Secreting Paraganglioma |
AD |
100 |
261 of 264 |
|
|
SDHC |
Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Paragangliomas 3 |
AD |
99.95 |
62 of 63 |
|
|
SDHD |
Carcinoid Syndrome, Carney-Stratakis Syndrome, Cowden Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Mitochondrial Complex 2 Deficiency, Paragangliomas 1, Sporadic Pheochromocytoma, Pheochromocytoma/Secreting Paraganglioma |
AD,AR |
99.98 |
164 of 166 |
|
|
SMAD4 |
Familial Pancreatic Carcinoma, Familial Thoracic Aortic Aneurysm and Aortic Dissection, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis Syndrome, Myhre Syndrome, Pancreatic Cancer |
AD |
99.56 |
136 of 136 |
|
|
STK11 |
Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor |
AD |
81.99 |
456 of 470 |
|
|
TP53 |
Adrenocortical Carcinoma, Basal Cell Carcinoma, Bone Marrow Failure Syndrome 5, Breast Cancer, Colorectal Cancer, Essential Thrombocythemia, Familial Pancreatic Carcinoma, Glioma 1, Hepatocellular Carcinoma, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Nasopharyngeal Carcinoma, Osteosarcoma, Pancreatic Cancer, Papilloma of Chroid Plexus |
AD,MU,P |
98.92 |
557 of 563 |
|
|
TSC1 |
Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-1 |
AD |
99.86 |
390 of 406 |
|
|
TSC2 |
Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-2 |
AD |
100 |
1157 of 1159 |
|
|
VHL |
Familial Erythrocytosis, Hereditary Pheochromocytoma-Paraganglioma, Pheochromocytoma, Nonpapillary Renal Cell Carcinoma, Sporadic Pheochromocytoma/Secreting Paraganglioma,Von Hippel-Lindau Syndrome |
AD,AR |
100 |
511 of 544 |
|
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu:multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
|
