Susceptibilidad

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