|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The initial reports present findings from whole exome sequencing of high-risk familial breast cancer cases in the French-Canadian, Polish and Han Chinese populations and estimate the carrier frequency of pathogenic RECQL mutations in high-risk breast cancer patients who have previously tested negative for BRCA1 and BRCA2 mutations to be approximately 1-2%.
|
30610487 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
RecQ-like helicase 1 (RECQ1), a DNA repair helicase, is critical for genome stability, and loss-of-function mutations in the <i>RECQ1</i> gene are associated with increased susceptibility to breast cancer.
|
31444271 |
2019 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In the second cohort of 322 breast cancer patients, low expression of RECQL protein was also subject to poor survival in breast cancer, and it was an independent prognosis factor of poor DRFS by multivariate analysis (DRFS: adjusted HR: 2.12, 95% CI: 1.16-3.88, P = 0.015).
|
29914420 |
2018 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rare RECQL p.I156M allele was observed in breast cancer cases only (6/1,946, 0.3%, p = 0.043), whereas POLG p.L392V was two times more frequent in breast cancer cases (53/2,238, 2.4%) compared to controls (18/1,539, 1.2%, OR = 2.1, 95% CI 1.2-3.5, p = 0.010).
|
29341116 |
2018 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although initial reports suggesting that mutations in RECQL could be associated with increased breast cancer risk included women from Poland and identified the RECQL:c.1667_1667 + 3delAGTA mutation in 0.23-0.35% of breast cancer cases, we did not observe any carriers in our study cohort.
|
29351780 |
2018 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Altogether, the data indicate that RECQL* c.1667_1667+3delAGTA is not a high-risk mutation for breast cancer though it could represent a moderate-risk breast cancer susceptibility allele.
|
27832498 |
2017 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Low RECQL1 expression was associated with shorter breast cancer-specific survival (P = 0.001).
|
27837030 |
2017 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we report that RECQ1, a breast cancer susceptibility gene that encodes the most abundant RecQ helicase in humans, is a p53-regulated gene, potentially acting as a defense against DNA damaging agents.
|
29100281 |
2017 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The significance of rare variants in RECQL gene in the estimation of breast cancer risk warranted further investigation in larger cohort of patients and in other ethnic groups.
|
27125668 |
2016 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that RECQL is a potential breast cancer susceptibility gene and that mutations in this gene contribute to familial breast cancer development.
|
25945795 |
2015 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
CTD_human |
We conclude that RECQL is a breast cancer susceptibility gene.
|
25915596 |
2015 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
We conclude that RECQL is a breast cancer susceptibility gene.
|
25915596 |
2015 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
RECQL mutations may serve as a useful biomarker for breast cancer.
|
26125302 |
2015 |
|
Malignant neoplasm of breast
|
0.400 |
Biomarker
|
disease |
BEFREE |
RECQ1, the first human RecQ helicase discovered [2-4] and the most abundant [5], was recently implicated in breast cancer [6, 7].
|
26455304 |
2015 |
|
Malignant neoplasm of breast
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the association between polymorphisms of the RECQL gene and breast cancer in a Chinese population.
|
25394896 |
2014 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Moreover, high RECQ1 expression was associated with poor prognosis in breast cancer.
|
25483193 |
2014 |