Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.
|
31772289 |
2019 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
BLM RecQ-like helicase is essential for genome integrity and is deficient in Bloom syndrome (BS), a rare genetic disease characterized by genome instability, accumulation of micronuclei, susceptibility to cancer, and immunodeficiency.
|
30936263 |
2019 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Finally, the suppressive effect of miR‑27b‑3p and miR‑607 on PC3 cell proliferation, colony formation, migration and invasion indicated the benefit of studying BLM as a drug target in cancer.
|
30957187 |
2019 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Stratification of BLM-s immunointensity and its subcellular localization in correlation with salivary gland tumor subtype shows a statistically significant increase in proportion and in intensity of nuclear staining for adenoid cystic carcinoma (ACC; specificity, 0.92 [95% CI, 0.88-0.95]; sensitivity, 0.82 [95% CI, 0.66-0.92]), a locally aggressive head and neck malignancy.
|
30261190 |
2019 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition.
|
30057030 |
2018 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
HR-QoL assessment was conducted using Italian versions of European Organisation for Research and Treatment of Cancer QLQ-C30 and EORTC BLM-30 questionnaires.
|
29275311 |
2018 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in human BLM helicase give rise to the autosomal recessive Bloom syndrome, which shows high predisposition to types of malignant tumours.
|
28338731 |
2017 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We identified deletions overlapping two known cancer susceptibility genes, (BRCA1 and BLM), and a duplication overlapping SMARCB1, associated with risk.
|
28302160 |
2017 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Whether heterozygous BLM gene mutations confer an increased cancer risk remains controversial.
|
28647934 |
2017 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
We propose that one or more human RecQ orthologs may act similarly in human cancers overexpressing the RecA ortholog <i>RAD51</i> and find that cancer genome expression data implicate the orthologs BLM and RECQL4 in conjunction with EME1 and GEN1 as probable HJ reducers in such cancers.
|
28090586 |
2016 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations within the domain VI of BLM detected in human cancer samples demonstrate the functional importance of this domain, suggesting human tumorigenicity resulting from mtBLM may be at least partly attributed to mitigated FANCD2 activation.
|
27083049 |
2016 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We conclude that Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer.
|
26778106 |
2016 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Collectively, these data identify SOD1 as a novel candidate drug target in BLM and CHEK2 cancer contexts, and further suggest that 2ME2, ATTM and LCS-1 are lead therapeutic compounds warranting further pre-clinical study.
|
26318585 |
2015 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in BLM, a member of the RecQ helicase family, cause Bloom's syndrome (BS), a rare, recessive genetic disorder that predisposes to many types of cancer.
|
25908507 |
2015 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Bloom syndrome is a rare autosomal recessive disorder characterized by genetic instability and cancer predisposition, and caused by mutations in the gene encoding the Bloom syndrome, RecQ helicase-like (BLM) protein.
|
24958861 |
2014 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Biallelic mutations in BLM cause Bloom syndrome (BS), a genome instability disorder characterized by growth retardation, sun sensitivity and a predisposition to cancer.
|
25766002 |
2014 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Bloom syndrome is an autosomal recessive disorder caused by mutations in the RecQ family helicase BLM that is associated with growth retardation and predisposition to cancer.
|
25418155 |
2014 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cells defective for BLM exhibit elevated levels of sister chromatid exchanges (SCEs) and patients with Bloom's syndrome develop a broad spectrum of early-onset cancers caused by chromosome instability.
|
21399624 |
2011 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutation of BLM helicase causes Blooms syndrome, a disorder associated with genome instability, high levels of sister chromatid exchanges, and cancer predisposition.
|
21300576 |
2011 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The gene mutated in Bloom's syndrome, BLM, encodes a member of the RecQ family of DNA helicases that is needed to suppress genome instability and cancer predisposition.
|
20389284 |
2010 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in the human RecQ helicase genes WRN and BLM respectively cause the genetic instability/cancer predisposition syndromes Werner syndrome and Bloom syndrome.
|
20663905 |
2010 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Deficiencies in genes encoding the RecQ helicases WRN and BLM lead to rare autosomal recessive diseases, Werner and Bloom syndromes, which have been implicated in early onset of aging, and predisposition to various types of cancer.
|
19945966 |
2010 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom syndromes, which are associated with premature aging and cancer predisposition, including breast cancer.
|
19205873 |
2009 |
Malignant Neoplasms
|
0.400 |
Biomarker
|
group |
BEFREE |
Genetic defects in three of the five human RecQ helicases, BLM, WRN and RECQ4, give rise to defined syndromes associated with cancer predisposition, some features of premature ageing and chromosomal instability.
|
19657341 |
2009 |
Malignant Neoplasms
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Based on consistency in effect estimates for the three cancer forms and similar allelic frequencies of the variant alleles in the control groups, two SNPs in TOP3A (rs1563634 and rs12945597) and two SNPs in BLM (rs401549 and rs2532105) were selected for analysis in breast cancer cases (N = 200) and a control group recruited from spouses of cancer patients (N = 131).
|
19432957 |
2009 |