List of diseases covered by Cancer Predisposition NGS panel

Published 12/07/2018

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;
Pheochromocytoma
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

Cancer Predisposition

Published 06/06/2013

Cancer Predisposition
NGS panel

Genes
(full coding
region):		 AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2 (v.a. eksonid 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GPC3, GREM1, HNF1A, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PHOX2B, POLD1, POLE, PRF1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RNF43, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC, XRCC2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

    1. Testing of individuals with early-age-onset of cancer
    2. Testing of individuals with multiple primary cancers
    3. Testing of family members of the affected individuals
    4. Testing individuals with family history suggesting inherited pattern of cancer but no genetic changes identified previously
    5. Genetic counseling

Determination of cancer predisposition is vital for prevention and early detection of the disease. Early diagnosis of cancer will ensure the immediate start of treatment, which is a key to increasing the survival and recovery. Significant difference between the survival rates of early stage and advanced stage of cancer points out the need for risk assessment of the disease.

Identification of genetic susceptibility to hereditary cancer syndromes enables to implement risk-reduction strategies, estimate familial cancer risk and identify at-risk family members.

Cancer predisposition testing includes NGS panel and deletion/duplication analysis, allowing us to analyze multiple genes associated with an increased risk for a wide range of cancers.