|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
|
24096176 |
2013 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
|
23225144 |
2013 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.
|
21815139 |
2012 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
|
17407155 |
2007 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.
|
15726604 |
2005 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
Heterozygosity for the BLM(Ash) mutation and cancer risk.
|
12702560 |
2003 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
BLM heterozygosity and the risk of colorectal cancer.
|
12242432 |
2002 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.
|
10090915 |
1999 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
|
9837821 |
1998 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.
|
9482582 |
1998 |
|
rs113993962
|
|
Neoplastic Syndromes, Hereditary
|
TAGATTC |
0.700 |
CausalMutation
|
CLINVAR |
The Bloom's syndrome gene product is homologous to RecQ helicases.
|
7585968 |
1995 |
|
rs148969222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
|
26358404 |
2015 |
|
rs148969222
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
|
24733792 |
2014 |
|
rs1555419889
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
|
26822949 |
2016 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.
|
25182961 |
2015 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
|
26358404 |
2015 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.
|
25410042 |
2014 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.
|
25399228 |
2014 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
|
23225144 |
2013 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.
|
23552953 |
2013 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
|
24096176 |
2013 |
|
rs200389141
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.
|
21815139 |
2012 |