Polymorphisms in homologous recombination repair genes and the risk and survival of breast cancer

Liao, Yu; Ren, Jun; Zhang, Wei; Zhang, Zheng Zheng; Lin, Ying; Su, Feng; Jia, Wei‐Hua; Tang, Lu; Ren, Zi

doi:10.1002/jgm.2988

Cited by 14 publications

(8 citation statements)

References 32 publications

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“…NHEJ is divided into two pathways: classical NHEJ (c-NHEJ) and a-NHEJ 10. There is accumulating evidence that NHEJ dysregulation is a causative factor in many cancers, such as neuroblastoma 5, breast cancer 7, chronic myeloid leukemia 11, lung cancer 6, esophageal squamous cell carcinoma 12, pancreatic cancer 13, and non-oral or squamous cell carcinoma 14. The a-NHEJ pathway participates in binding, cleavage, and ligation of DNA breaks and depends on PARP1, the MRN complex, LIG1, and LIG3, excluding several key genes of the c-NHEJ pathway.…”

Section: Discussionmentioning

confidence: 99%

“…A growing body of research indicates that LIG3 SNPs are significantly associated with cancer susceptibility and recurrence 5-7, 11-14. Landi et al 6 found that LIG3 rs1052536 is significantly associated with susceptibility to lung cancer among young people.…”

Section: Discussionmentioning

confidence: 99%

“…Landi et al 6 found that LIG3 rs1052536 is significantly associated with susceptibility to lung cancer among young people. Surprisingly, breast cancer patients with LIG3 rs1052536 tend to demonstrate longer progression-free survival 7. Zhu et al 14 reported that LIG3 rs4796030 can significantly modify the recurrence risk of non-oropharyngeal squamous cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…In fact, Landi et al 6 found that the LIG3 rs1052536 single nucleotide polymorphism (SNP) was significantly associated with lung cancer risk among the young population. Moreover, genetic polymorphisms of LIG3 are strongly related to breast cancer prognosis 7. However, whether LIG3 polymorphisms are also associated with neuroblastoma risk remains unclear.…”

Section: Introductionmentioning

confidence: 99%

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Lack of associations between LIG3 gene polymorphisms and neuroblastoma susceptibility in Chinese children

et al. 2019

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Accumulating evidence suggests that dysregulation of the DNA non-homologous end-joining (NHEJ) repair system is a causative factor in many cancers, including high-risk neuroblastoma. A number of studies have shown that polymorphisms in the DNA ligase III (LIG3) gene, one of the key genes in the error-prone alternative NHEJ (a-NHEJ) pathway for DNA double-strand break (DSB) repair, are associated with a variety of cancers. Nevertheless, whether LIG3 polymorphisms contribute to neuroblastoma risk remains unknown. We investigated the correlation between neuroblastoma susceptibility and two LIG3 polymorphisms (rs1052536 C>T and rs4796030 A>C) among 469 neuroblastoma patients and 998 healthy controls from China. Our results failed to detect any relationship between the analyzed SNPs and neuroblastoma risk in either overall analysis or stratification analysis. These results suggest that rs1052536 C>T and rs4796030 A>C are unrelated to neuroblastoma susceptibility in the Chinese population. Further studies with larger sample sizes and multiple ethnicities are necessary to verify our results.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lack of associations between LIG3 gene polymorphisms and neuroblastoma susceptibility in Chinese children

et al. 2019

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“…Таким образом, по своей патофизиологии CANVAS относится к группе атаксий с нарушением репарации ДНК [9]. Ранее интерес к этому гену был в основном связан с онкогенетикой: описана его роль в развитии рака молочной железы [12,13], точковые миссенс-мутации RFC1 обнаружены у пациентов с наследственным колоректальным раком [14], а гиперэкспрессия данного гена выявлена в клетках назофарингеального рака [15]. Исходя из патогенеза заболевания предполагалось, что пациенты с синдромом CANVAS могут иметь высокий риск развития злокачественных новообразований (как, например, при атаксии-телеангиэктазии), однако до настоящего времени эта гипотеза не подтвердилась [1].…”

Section: история изученияunclassified

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review

Нужный

Иллариошкин

2020

Neuromuscular Diseases

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleotide AAGGG expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety of clinical manifestations of this disease has expanded, including a combination of cerebellar ataxia and sensory neuropathy, as well as isolated sensory polyneuropathy/ganglionopathy. This review details current information on the etiology, pathogenesis, clinical presentation and diagnosis of CANVAS in order to increase the awareness of practitioners and early diagnosis of this disease.

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Associations of reproductive factors with breast cancer prognosis and the modifying effects of menopausal status

Zhang

Wang

et al. 2019

Cancer Medicine

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Reproductive factors associated with breast cancer risk may also affect the prognosis. This study aimed to evaluate the associations of multiple reproductive factors with breast cancer prognosis and the modifying effects of menopausal status. We obtained data from 3805 breast cancer patients recruited between October 2008 and June 2016 in Guangzhou. The subjects were followed up until 30 June 2018. The hazard ratios (HRs) and 95% confidence intervals (95% CIs) were calculated using multivariate Cox models to estimate the associations. It was found that there were U‐shaped patterns for the associations of age at first birth and durations from first/last birth to diagnosis with breast cancer prognosis. The adverse effects of old age at first birth [>30 years vs 23‐30 years, HR (95% CI): 1.59 (1.01‐2.50)] and long intervals from first [≥20 years vs 10‐19 years, HR (95% CI): 1.55 (1.07‐2.27)] or last [≥20 years vs 10‐19 years, HR (95% CI): 1.63 (1.08‐2.46)] birth to diagnosis on progression‐free survival (PFS) were significantly more pronounced among premenopausal women. Additionally, long interval (>5 years) between first and second birth was associated with a better PFS [HR (95% CI): 0.64 (0.42‐0.97)]. These results suggested that age at first birth, durations from first/last birth to diagnosis, and intervals between first and second birth should be taken into account when following the patients and assessing the prognosis of breast cancer, particularly for premenopausal patients. These findings would also have implications for further insight into the mechanisms of breast cancer development.

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Polymorphisms in homologous recombination repair genes and the risk and survival of breast cancer

Abstract: The findings of the present study suggest that the polymorphisms in HRR genes were associated with BC risk (RFC1 rs6829064) and prognosis (NRM rs1075496 and LIG3 rs1052536), whereas RAD54L rs1710286 and RPA1 rs11078676 had null associations with BC.

Cited by 14 publications

References 32 publications

Lack of associations between LIG3 gene polymorphisms and neuroblastoma susceptibility in Chinese children

Lack of associations between LIG3 gene polymorphisms and neuroblastoma susceptibility in Chinese children

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review

Associations of reproductive factors with breast cancer prognosis and the modifying effects of menopausal status

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