Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.
|
31398194 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility.
|
30303537 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D.
|
30552672 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
|
31296309 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Compared with control datasets, predicted damaging rare missense variants were significantly more prevalent in CHEK2 and TP53 in BC index patients.
|
29522266 |
2018 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.
|
26884562 |
2016 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
CLINGEN |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
|
27595995 |
2016 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2.
|
25736863 |
2015 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, only about 20% of familial breast cancer cases are attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2.
|
25936246 |
2015 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The present study indicates that the CHEK2 c.1100delC mutation does not contribute substantially to hereditary breast cancer in patients of Greek descent.
|
25835597 |
2015 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
CLINGEN |
A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.
|
24713400 |
2014 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
One gene that is commonly included on NGS hereditary breast cancer panels is CHEK2.
|
25355026 |
2014 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the tumor-specific loss of the wild-type allele is not characteristic for BC arising in CHEK2, NBN/NBS1 and BLM mutation carriers.
|
24415413 |
2014 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
|
24986639 |
2014 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germ line CHEK2 mutations are seen in a subset of patients with a familial breast cancer and sarcoma phenotype.
|
24595525 |
2014 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent.
|
23415889 |
2013 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
|
22419737 |
2012 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.
|
21542898 |
2011 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 gene mutations occur in a subset of patients with familial breast cancer, acting as moderate/low penetrance cancer susceptibility alleles.
|
21562711 |
2011 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the contribution of CHEK2 mutations to non-BRCA HBC by direct sequencing of its whole coding sequence in 507 non-BRCA HBC cases and 513 controls.
|
22114986 |
2011 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.
|
21876083 |
2011 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the recognized breast cancer susceptibility genes BRCA1, BRCA2, TP53, ATM, and CHEK2 account for approximately 20% of hereditary breast cancer.
|
21409391 |
2011 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population.
|
18484200 |
2008 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 1100delC was genotyped in the index cases of 369 Dutch colorectal cancer families that had been excluded for familial breast cancer.
|
18676774 |
2008 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
|
17705858 |
2007 |