IllnessPancreatic cancer [susceptibility loci]
Summary
Short information
A comprehensive panel containing 13 guideline-curated core candidate genes and altogether 20 curated genes for the analysis of the genetic susceptibility for Pancreatic cancer
ID
PP0867
Number of genes
16
Accredited laboratory test
Examined sequence length
32,5 kb (Core-/Core-canditate-Genes)
60,4 kb (Extended panel: incl. additional genes)
60,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS + SNP
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
BRCA1 | 5592 | NM_007294.4 | AD | |
BRCA2 | 10257 | NM_000059.4 | AD, Sus | |
CDKN2A | 471 | NM_000077.5 | AD | |
EPCAM | 945 | NM_002354.3 | AD | |
MLH1 | 2271 | NM_000249.4 | AD | |
MSH2 | 2805 | NM_000251.3 | AD | |
MSH6 | 4083 | NM_000179.3 | AD | |
PALB2 | 3561 | NM_024675.4 | AD | |
STK11 | 1302 | NM_000455.5 | AD | |
TP53 | 1182 | NM_000546.6 | AD | |
APC | 8532 | NM_000038.6 | AD | |
ATM | 9171 | NM_000051.4 | AR | |
BARD1 | 2334 | NM_000465.4 | n.k. | |
HNF1A | 1896 | NM_000545.8 | AD | |
PALLD | 3372 | NM_016081.4 | Sus | |
PMS2 | 2589 | NM_000535.7 | AR |
Informations about the disease
Clinical Comment
In familial cases, pancreas cancer occurs before 50 years; high incidence is obvious within hereditary syndromes like Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma syndrome, hereditary breast/ ovarian cancer syndrome, hereditary nonpolyposis colorectal cancer; smoking represents a significant risk factor associated with familial PC.
Synonyms
- Alias: Pancreatic cancer susceptibility
- Alias: Pancreatic carcinoma susceptibility
- Alias: Susceptibility to Pancreatic Cancer
- Allelic: ADULT syndrome, Hay-Wells syndrome, Rapp-Hodgkin syndrome (TP63)
- Allelic: Blood group, ABO system (ABO)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Breast cancer, susceptibility to (PALB2)
- Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
- Allelic: Diabetes mellitus, insulin-dependent, 20 (HNFA1)
- Allelic: Dyskeratosis congenita, AD 2, AR 4 (TERT)
- Allelic: Fanconi anemia, complementation group D1 (BRCA2)
- Allelic: Fanconi anemia, complementation group N (PALB2)
- Allelic: Fanconi anemia, complementation group S (BRCA1)
- Allelic: Glutaric aciduria III (SUGCT)
- Allelic: Hepatic adenoma, somatic (HNFA1)
- Allelic: MODY, type III (HNFA1)
- Allelic: MODY, type IV (PDX1)
- Allelic: Melanoma, cutaneous malignant, 3 (CDK4)
- Allelic: Pancreatic agenesis 1 (PDX1)
- Ataxia-telangiectasia (ATM)
- Gardner syndrome (APC)
- Malignant pancreatic neoplasm [MONDO:0009831] (CDK4)
- Melanoma-pancreatic cancer syndrome (CDKN2A)
- Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
- Pancreatic cancer 2 (BRCA2)
- Pancreatic cancer, somatic (STK11)
- Pancreatic cancer, somatic (TP53)
- Pancreatic cancer, susceptibility to, 1 (PALLD)
- Pancreatic cancer, susceptibility to, 3 (PALB2)
- Pancreatic cancer, susceptibility to, 4 (BRCA1)
- Pancreatitis, hereditary (PRSS1)
Heredity, heredity patterns etc.
- AD
- AR
- Sus
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined