List of diseases covered by Cancer Predisposition NGS panel

List of diseases covered by
Cancer Predisposition NGS panel

Gene Condition
AIP Pituitary adenoma 1, multiple types
ALK Neuroblastoma, susceptibility to, 3
APC Adenomatous polyposis coli; Colorectal cancer, somatic;
Desmoid disease, hereditary; Gardner syndrome;
Gastric cancer, somatic; Hepatoblastoma, somatic
ATM Ataxia-telangiectasia; Breast cancer, susceptibility to
BAP1 Tumor predisposition syndrome
BARD1 Breast cancer, susceptibility to
BLM Bloom syndrome
BMPR1A Juvenile polyposis syndrome, infantile form;
Polyposis syndrome, hereditary mixed, 2
BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4;
Fanconi anemia, complementation group S
BRCA2 Fanconi anemia, complementation group D1; Wilms tumor;
Breast cancer, male, susceptibility to;
Breast-ovarian cancer, familial, 2; Glioblastoma 3;
Medulloblastoma; Pancreatic cancer 2; Prostate cancer
BRIP1 Breast cancer, early-onset; Fanconi anemia, complementation group J
BUB1B Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1;
Premature chromatid separation trait; Colorectal cancer, somatic
CDC73 Hyperparathyroidism, familial primary;
Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma
CDH1 Breast cancer, lobular; Prostate cancer, susceptibility to;
Endometrial carcinoma, somatic; Ovarian carcinoma, somatic;
Blepharocheilodontic syndrome 1;
Gastric cancer, familial diffuse, with or without cleft lip and/or palate
CDK4 Melanoma, cutaneous malignant, 3
CDKN1C Beckwith-Wiedemann syndrome; IMAGE syndrome
CDKN2A Melanoma and neural system tumor syndrome;
Pancreatic cancer/melanoma syndrome;
Melanoma, cutaneous malignant, 2
CEBPA Leukemia, acute myeloid
CEP57 Mosaic variegated aneuploidy syndrome 2
CHEK2 Breast cancer, susceptibility to; Prostate cancer, familial, susceptibility to;
Li-Fraumeni syndrome; Osteosarcoma, somatic
CYLD Trichoepithelioma, multiple familial, 1; Brooke-Spiegler syndrome;
Cylindromatosis, familial
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype
DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors;
Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2
DIS3L2 Perlman syndrome
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in
EPCAM Colorectal cancer, hereditary nonpolyposis, type 8;
Diarrhea 5, with tufting enteropathy, congenital
ERCC2 Xeroderma pigmentosum, group D;
Cerebrooculofacioskeletal syndrome 2;
Trichothiodystrophy 1, photosensitive
ERCC3 Xeroderma pigmentosum, group B;
Trichothiodystrophy 2, photosensitive
ERCC4 Xeroderma pigmentosum, group F;
Fanconi anemia, complementation group Q;
XFE progeroid syndrome
ERCC5 Xeroderma pigmentosum, group G;
Cerebrooculofacioskeletal syndrome 3
EXT1 Chondrosarcoma; Exostoses, multiple, type 1
EXT2 Exostoses, multiple, type 2;
Seizures, scoliosis, and macrocephaly syndrome
EZH2 Weaver syndrome
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FH Leiomyomatosis and renal cell cancer; Fumarase deficiency
FLCN Birt-Hogg-Dube syndrome; Pneumothorax, primary spontaneous;
Colorectal cancer, somatic; Renal carcinoma, chromophobe, somatic
GATA2 Emberger syndrome; Immunodeficiency 21;
Leukemia, acute myeloid, susceptibility to;
Myelodysplastic syndrome, susceptibility to
GPC3 Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic
HNF1A Renal cell carcinoma; Hepatic adenoma, somatic;
Diabetes mellitus, insulin-dependent, 20; MODY, type III;
Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HRAS Costello syndrome; Schimmelpenning-Feuerstein-Mims syndrome,
somatic mosaic; Bladder cancer, somatic;
Nevus sebaceous or woolly hair nevus, somatic;
Spitz nevus or nevus spilus, somatic; Thyroid carcinoma, follicular, somatic
KIT Gastrointestinal stromal tumor, familial; Germ cell tumors, somatic;
Leukemia, acute myeloid; Mastocytosis, cutaneous; Piebaldism
MAX Pheochromocytoma, susceptibility to
MEN1 Multiple endocrine neoplasia 1
MET Hepatocellular carcinoma, childhood type, somatic;
Renal cell carcinoma, papillary, 1, familial and somatic;
Deafness, autosomal recessive 97; Osteofibrous dysplasia, susceptibility to
MITF Melanoma, cutaneous malignant, susceptibility to, 8;
COMMAD syndrome; Tietz albinism-deafness syndrome;
Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic
MLH1 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 2; Muir-Torre syndrome
MRE11A Ataxia-telangiectasia-like disorder 1
MSH2 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 1; Muir-Torre syndrome
MSH6 Mismatch repair cancer syndrome;
Colorectal cancer, hereditary nonpolyposis, type 5;
Endometrial cancer, familial
MUTYH Adenomas, multiple colorectal;
Colorectal adenomatous polyposis, autosomal recessive,
with pilomatricomas; Gastric cancer, somatic
NBN Nijmegen breakage syndrome; Leukemia, acute lymphoblastic;
Aplastic anemia
NF1 Neurofibromatosis, type 1
NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2;
Schwannomatosis, somatic
NSD1 Leukemia, acute myeloid; Sotos syndrome 1
NTHL1 Familial adenomatous polyposis 3
PALB2 Breast cancer, susceptibility to;
Pancreatic cancer, susceptibility to, 3;
Fanconi anemia, complementation group N
PHOX2B Neuroblastoma with Hirschsprung disease;
Central hypoventilation syndrome, congenital,
with or without Hirschsprung disease
POLD1 Colorectal cancer, susceptibility to, 10;
Mandibular hypoplasia, deafness, progeroid features,
and lipodystrophy syndrome
PRF1 Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2;
Lymphoma, non-Hodgkin
PRKAR1A Acrodysostosis 1, with or without hormone resistance;
Carney complex, type 1; Myxoma, intracardiac;
Pigmented nodular adrenocortical disease, primary, 1
PRSS1 Pancreatitis, hereditary; Trypsinogen deficiency
PTCH1 Basal cell nevus syndrome; Holoprosencephaly 7;
Basal cell carcinoma, somatic
PTEN Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome;
Endometrial carcinoma, somatic; Malignant melanoma, somatic;
Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic;
VATER association with macrocephaly and ventriculomegaly;
Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
RAD50 Nijmegen breakage syndrome-like disorder
RAD51C Breast-ovarian cancer, familial, susceptibility to, 3;
Fanconi anemia, complementation group O
RAD51D Breast-ovarian cancer, familial, susceptibility to, 4
RB1 Bladder cancer, somatic; Osteosarcoma, somatic; Retinoblastoma;
Small cell cancer of the lung, somatic
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
RET Medullary thyroid carcinoma;
Central hypoventilation syndrome, congenital;
Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB;
Pheochromocytoma; Hirschsprung disease, susceptibility to, 1
RHBDF2 Tylosis with esophageal cancer
RUNX1 Leukemia, acute myeloid; Platelet disorder, familial,
with associated myeloid malignancy
SBDS Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to
SDHA Cardiomyopathy, dilated, 1GG; Leigh syndrome;
Mitochondrial respiratory chain complex II deficiency; Paragangliomas 5
SDHAF2 Paragangliomas 2
SDHB Cowden syndrome 2; Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 4;
SDHC Gastrointestinal stromal tumor;
Paraganglioma and gastric stromal sarcoma; Paragangliomas 3
SDHD Carcinoid tumors, intestinal; Cowden syndrome 3;
Mitochondrial complex II deficiency;
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma
SLX4 Fanconi anemia, complementation group P
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
SMARCB1 Coffin-Siris syndrome 3;
Rhabdoid tumor predisposition syndrome 1;
Schwannomatosis-1, susceptibility to
STK11 Pancreatic cancer; Peutz-Jeghers syndrome;
Testicular tumor, somatic
SUFU Basal cell nevus syndrome; Joubert syndrome 32;
Medulloblastoma, desmoplastic; Meningioma, familial, susceptibility to
TMEM127 Pheochromocytoma, susceptibility to
TP53 Breast cancer; Adrenal cortical carcinoma;
Choroid plexus papilloma;
Colorectal cancer; Li-Fraumeni syndrome;
Nasopharyngeal carcinoma; Osteosarcoma; Pancreatic cancer;
Basal cell carcinoma 7;
Glioma susceptibility 1
TSC1 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis; Tuberous sclerosis-1
TSC2 Focal cortical dysplasia, type II, somatic;
Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2
VHL Erythrocytosis, familial, 2; Pheochromocytoma;
Renal cell carcinoma, somatic; von Hippel-Lindau syndrome
WRN Werner syndrome
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome; Mesothelioma, somatic;
Nephrotic syndrome, type 4
XPA Xeroderma pigmentosum, group A
XPC Xeroderma pigmentosum, group C
XRCC2 Fanconi anemia, complementation group U