Variants - Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000515)
Disease	Prostate Cancer
Reference	Wu et al., 2006, Peikuan Cong
Remarks	-
# Reported	1
Mut. origin	-
Gender	-
Occurrence	Sporadic
De novo origin	-
Geographic origin	America
Ethnic origin	Rochester, Minnesota
Population	-
Submitter	Peikuan Cong

Variant data
Allele	Unknown
Reported pathogenicity	Probably pathogenic
Concluded pathogenicity	Unknown
Exon	13
DNA change	c.1427C>A (View in UCSC Genome Browser, Ensembl)
DNA published	c.1427C>A
RNA change	-
Protein	p.Thr476Lys
Re-site	-
Frequency	-
Patients	-
Controls	-
DB-ID	CHEK2_00038
Type	Substitution
Location	Exon
Template	DNA
Technique	DHPLC, PCR, SEQ, Western
Tissue	primary prostate tumor tissue
Variant remarks	Taken together, these results provide evidence that both germline and somatic CHEK2 mutations identified in prostate cancer may contribute to the development of prostate cancer through the reduction of CHEK2 activation in response to DNA damage and/or oncogenic stress.
Reference	-

9 entries in CHEK2

Path.

Allele

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference

+?/?

Unknown

c.190G>A

p.Glu64Lys

CHEK2_00024

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

the p.E64K mutant had a reduction of Thr-68 phosphorylation of CHEK2 following DNA damage

+?/?

Unknown

c.349A>G

p.Arg117Gly

CHEK2_00004

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

p.R117G mutation partially reduced CHEK2 kinase activity

+?/?

Unknown

c.470T>C

p.Ile157Thr

CHEK2_00009

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

+?/?

Unknown

c.541C>T

p.Arg181Cys

CHEK2_00030

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

+?/?

Unknown

c.715G>A

p.Glu239Lys

CHEK2_00033

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

+?/?

Unknown

c.961G>A

p.Glu321Lys

CHEK2_00044

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

somatic CHEK2 mutations

+?/?

Unknown

c.967A>C

p.Thr323Pro

CHEK2_00036

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

partially reduced CHEK2 kinase activity

+?/+

Unknown

c.1100 delC

p.Thr367MetfsX15

CHEK2_00045

Deletion

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

lovddeng

+?/?

Unknown

c.1427C>A

p.Thr476Lys

CHEK2_00038

Substitution

Exon

DNA

DHPLC, PCR, SEQ, Western

primary prostate tumor tissue

Taken together, these results provide evidence that both germline and somatic CHEK2 mutations identified in prostate cancer may contribute to the development of prostate cancer through the reduction of CHEK2 activation in response to DNA damage and/or oncogenic stress.

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

checkpoint kinase 2 (CHEK2)