<i>RECQL</i>: a new breast cancer susceptibility gene

Banerjee, Taraswi; Brosh, Robert M.

doi:10.1080/15384101.2015.1066539

Cited by 17 publications

(13 citation statements)

References 41 publications

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“…However the penetrance of such polymorphisms is weak and the clinical relevance of these to the overall cancer burden was unclear 30 . Subsequently several complex conditions in which cancer predisposition is a feature, such as Bloom's and Werner's syndromes, and Fanconi anaemia, have been shown to arise from genetic defects in DNA repair systems, as have subsets of familial breast, ovarian, prostate and pancreatic cancers [31][32][33][34][35][36] .…”

Section: Insight From Dna Repair Disordersmentioning

confidence: 99%

DNA repair, genome stability and cancer: a historical perspective

2015

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The multi-step process of cancer progresses over many years. The prevention of mutations by DNA repair pathways led to an early appreciation of a role for repair in cancer avoidance. However, the broader role for the DNA damage responses (DDR) emerged more slowly. We reflect on how our understanding of the steps leading to cancer unravelled, focusing on the role of the DDR. We consider how our current knowledge can be exploited for cancer therapy.3

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Section: Insight From Dna Repair Disordersmentioning

confidence: 99%

DNA repair, genome stability and cancer: a historical perspective

2015

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“…Importantly, two recent studies have shown that germ-line RECQL1 mutations are associated with increased breast cancer susceptibility (12-14). Sun et.al.…”

Section: Introductionmentioning

confidence: 99%

Clinicopathological and Functional Significance of RECQL1 Helicase in Sporadic Breast Cancers

Arora

Parvathaneni

Aleskandarany

et al. 2017

Molecular Cancer Therapeutics

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RECQL1, a key member of the RecQ family of DNA helicases, is required for DNA replication and DNA repair. Two recent studies have shown that germ-line RECQL1 mutations are associated with increased breast cancer susceptibility. Whether altered RECQL1 expression has clinicopathological significance in sporadic breast cancers is unknown. We evaluated RECQL1 at the transcriptomic level [METABRIC cohort, n=1977] and at the protein level [cohort 1, n=897; cohort 2, n= 252; cohort 3 (BRCA-germline deficient), n=74]. In RECQL1-depleted breast cancer cells we investigated anthracycline sensitivity. High RECQL1 mRNA was associated with intClust.3 (p=0.026) which is characterised by low genomic instability. On the other hand, low RECQL1 mRNA was linked to intClust.8 (luminal A ER+ sub-group) (p=0.0455) and intClust.9 (luminal B ER+ sub-group) (p=0.0346) molecular phenotypes. Low RECQL1 expression was associated with shorter breast cancer specific survival (p=0.001). At the protein level, low nuclear RECQL1 level was associated with larger tumour size, lymph node positivity, high tumour grade , high mitotic index, pleomorphism, de-differentiation, ER negativity and HER-2 overexpression (p values<0.05). In ER+ tumours that received endocrine therapy, low RECQL1 was associated with poor survival (p=0.008). However, in ER− negative tumours that received anthracycline based chemotherapy, high RECQL1 was associated with poor survival (p=0.048). In RECQL1-depleted breast cancer cell lines we confirmed doxorubicin sensitivity which was associated with DNA double strand breaks accumulation, S-phase cell cycle arrest and apoptosis. We conclude that RECQL1 has prognostic and predictive significance in breast cancers.

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“…Likewise, the RECQL variant c.634C > T (p. Arg215*) seen in the French-Canadian population was further screened in 538 patients and 7136 newborn controls and was detected in 5 patients and in one control-a nearly 50x increase in frequency in affected versus unaffected individuals. Studies of patients in northern China revealed a pathogenic RECQL mutation in 2.0% of the 448 familial breast cancer patients compared to the 0.06% seen in 1588 control subjects [20]. By whole exome sequencing 0 early-onset familial breast cancer patients without BRCA1/2 mutations and by screening the RECQL gene in an additional 439 unrelated familial breast cancer patients, 9 index cases were found to carry a pathogenic mutation in the RECQL gene among the 448 BRCA-negative familial breast cancer patients.…”

Section: Recqlmentioning

confidence: 94%

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?

Nolis¹,

Scott²

2019

Modern Medical Genetics and Genomics

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Genomics medicine and molecular genetics are experiencing a surge of interest as well as a push for a more prominent role in mainstream medicine. This, coupled with the advancement of next-generation sequencing, along with a national, if not global, steering of funding to support the advancement and development of genetics is suggesting that we are entering a new age of medicine. As this push begins to gain some momentum, the impact of genomics medicine on clinical utility and the influence of supporting data on genes that make their way from research to diagnostic medicine are worth reviewing.

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RECQL: a new breast cancer susceptibility gene

Cited by 17 publications

References 41 publications

DNA repair, genome stability and cancer: a historical perspective

DNA repair, genome stability and cancer: a historical perspective

Clinicopathological and Functional Significance of RECQL1 Helicase in Sporadic Breast Cancers

Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?

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