IllnessEndometrium cancer [heritable, susceptibility]

Summary

Short information

Comprehensive panel for Endometrium cancer, inherited, susceptibility, comprising 6 guideline-curated genes, 4 genes mentioned in the guidelines as well as another curated gene according to the clinical signs

EP8642

Number of genes

8 Accredited laboratory test

Examined sequence length

15,5 kb (Core-/Core-canditate-Genes)
17,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
EPCAM	945	185535	NM_002354.3	Sus
FH	1533	136850	NM_000143.4	AD, Sus
MLH1	2271	120436	NM_000249.4	AD, Sus
MSH2	2805	609309	NM_000251.3	AD, Sus
MSH6	4083	600678	NM_000179.3	AD, Sus
PMS2	2589	600259	NM_000535.7	AD, Sus
PTEN	1212	601728	NM_000314.8	AD, Sus
MUTYH	1650	604933	NM_001128425.2	Sus, AR

Informations about the disease

Clinical Comment

Endometrial cancer can run in families. These families also have a higher risk for colon cancer, i.e. HNPCC (Lynch syndrome). In many cases, HNPCC is caused by a defect in mismatch repair genes MLH1, MSH2, MLH3, MSH6, TGBR2, PMS1, PMS2. Mutation(s) in any one of these genes reduces the ability to repair DNA damage. This results in a very high risk of cancer, especially also endometrial cancer. Women with this syndrome have a up to a 70% risk of developing endometrial cancer, while the risk for women in general is ~3%. The risk of ovarian cancer is also increased.

Synonyms

Adenomas, multiple colorectal (MUTYH)
Alias: Endometrial carcinoma
Alias: Uterus-Karzinom
Allelic: FILS syndrome (POLE)
Allelic: IMAGE-I syndrome (POLE)
Allelic: Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
Colorectal cancer, susceptibility to, 10 (POLD1)
Colorectal cancer, susceptibility to, 12 (POLE)
Cowden syndrome 1 (PTEN)
Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
Endometrial cancer, familial (MSH6)
Familial adenomatous polyposis 3 (NZHL1)
Fumarase deficiency (FH)
Glioma susceptibility 2 (PTEN)
Leiomyomatosis + renal cell cancer (FH)
Lhermitte-Duclos syndrome (PTEN)
Macrocephaly/autism syndrome (PTEN)
Meningioma (PTEN)
Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
Muir-Torre syndrome (MLH1, MSH2)
Prostate cancer, somatic (PTEN)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined