The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer

Russi, Maria; Fermeglia, Alice; Aulić, Suzana; Fermeglia, Maurizio; Laurini, Erik; Pricl, Sabrina

doi:10.1016/j.pharmthera.2021.108009

Cited by 6 publications

(4 citation statements)

References 850 publications

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“…Russi M et al. introduced the functional characteristics and structural insights of BRCA1 and the BRCA1 mutations on cancer progression ( 43 ). Slade D et al.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, more attention should be attached to this journal on relevant topics. In the most locally cited references shown in Table 6 , some articles chiefly discussed the mutations, function, and carcinoma biology of BRCA1/2 ( 43 , 47 , 48 ). On the other hand, there were six articles concerning PARPi drugs, including the clinical performance, the mechanism of resistance and coping strategies, relevant biomarkers, identification of the target population, and so on ( 11 , 44 , 46 , 49 – 51 ).…”

Section: Discussionmentioning

confidence: 99%

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Global trends in BRCA-related breast cancer research from 2013 to 2022: A scientometric analysis

et al. 2023

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IntroductionSince the mid-2000s, breast cancer incidence among women has slowly increased at about 0.5% per year. In the last three decades, Breast Cancer Susceptibility Gene (BRCA) has been proven to be the crucial gene in encouraging the incidence and development of breast cancer. However, scientometric analysis on BRCA-related breast cancer is in shortage. Thus, to have a clear understanding of the current status and catch up with the hotspots, a scientometric analysis was conducted on specific academic publications collected from the Web of Science (WoS).MethodsWe searched the Web of Science Core Collection (WoSCC) to procure associated articles as our dataset. Bibliometric, CiteSpace, VOSviewer, and HistCite software were then applied to conduct visual analyses of countries, institutions, journals, authors, landmark articles, and keywords in this research field.ResultsA total of 7,266 articles and 1,310 review articles published between 2013 to 2022 were retrieved eventually. The annual output steadily rose year by year and peaked in 2021. The USA led the way in the number of published works, total citations, and collaboration. Breast Cancer Research and Treatment was the most favoured journal in this research field. Narod SA from the University of Toronto produced the most publications. At last, the most prominent keywords were “breast cancer” (n=1,778), “women” (n=1,369), “brca1” (n=1,276), “ovarian cancer” (n=1,259), “risk” (n=1,181), and “mutations” (n=929), which exposed the hotspots within the BRCA domain of breast cancer study.ConclusionThe tendency in the BRCA research field over the past decade was presented by the scientometric analysis. The current research focus is the clinical trials of poly-adenosine diphosphate ribose polymerase inhibitors (PARPi) drugs and their resistance mechanisms.

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“…Russi M et al. introduced the functional characteristics and structural insights of BRCA1 and the BRCA1 mutations on cancer progression ( 43 ). Slade D et al.…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Global trends in BRCA-related breast cancer research from 2013 to 2022: A scientometric analysis

et al. 2023

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“…These mutations also impacted the stability of the BRCA1/BARD1 PPI complex [60]. The development of preventive and therapeutic strategies to thwart the advancement of breast cancer can therefore be facilitated by a thorough understanding and investigation of the interplay between the BRCA1 and BARD1 platforms [4].…”

Section: Breast Cancer Mutationsmentioning

confidence: 99%

“…Generally, the BRAC1/BARD1 constitutes a heterodimeric complex that mediates numerous fundamental biological functions, specifically in regulating gene transcription and DNA double-stranded break repair mechanism [2,3]. Furthermore, BRCA1 and its partner BARD1 protein are essential in other cellular processes involving chromatin remodeling, telomere regulation, replication fork maintenance, cell cycle progression, apoptosis, and tumor inhibition [4]. BRAC1/BARD1 possesses an enzymatic activity through its E3 ubiquitin ligase capacity that assists in regulating the biological processes and controlling the activity and transcription of other protein complexes [2].…”

Section: Introduction 11 a Glance On The Brac1/bard1mentioning

confidence: 99%

The Fundamental Role of BARD1 Mutations and Their Applications as a Prognostic Biomarker for Cancer Treatment

Hawsawi¹,

Shams²

2023

BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications

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BRCA1-associated RING domain 1 (BARD1) constitutes a heterodimeric complex with BRAC1 that triggers several essential biological functions that regulate gene transcription and DNA double-stranded break repair mechanism. BARD1 gene was discovered in 1996 to interact with BRCA1 directly and encodes a 777-aa protein. Interestingly, the BARD1 has a dual role in breast cancer development and progression. It acts as a tumor suppressor and oncogene; therefore, it is included on panels of clinical genes as a prognostic marker. Structurally, BARD1 has homologous domains to BRCA1 that aid their heterodimer interaction to inhibit the progression of different cancers, including breast and ovarian cancers. In addition to the BRCA1-independent pathway, other pathways are involved in tumor suppression, such as the TP53-dependent apoptotic signaling pathway. However, there are abundant BARD1 isoforms that are different from full-length BARD1 due to nonsense and frameshift mutations and deletions associated with susceptibility to cancer, such as neuroblastoma, lung cancer, cervical cancer, and breast cancer. In the current chapter, we shed light on the spectrum of BARD1 full-length genes and isoform mutations and their associated risk with breast cancer. The chapter also highlights the role of BARD1 as an oncogene in breast cancer patients and its uses as a prognostic biomarker for cancer susceptibility testing and treatment

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Interpretation of Missense Variants Found in Association with Cancer

Chiaraluce

Consalvi

2023

Encyclopedia of Life Sciences

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Dynamic changes in the genome characterise the onset, progression, diffusion and metastasis of cancer. Genomic changes may confer a growth advantage: gain of function mutations in oncogenes and loss of function in tumour suppressor may drive the tumour invasion and the loss of control mechanism in the hosts. Genome instability and inflammation are at the basis of the genetic changes reported in the Cancer Genome Atlas during these last 20 years. Cancer genome landscape has been extensively analysed with the aim to distinguish, in the tumour samples, the cancer‐related mutations from those neutral or benign. Studies in cancer tissues indicate that the somatic mutations observed effect from 33 to 66 genes and that 95% of these mutations are single‐nucleotide variants, mainly missense, or nonsynonymous variants, that is a single nucleotide substitution leads to a change in the protein sequence. The vast amount of data collected is not accompanied yet by a meaningful interpretation, and a linear connection between clinics and biological data is not even on the way. We report on case studies of missense mutations in frequently mutated cancer genes, in relation to the effect of missense mutations on the protein structure, functions and stability. Key Concepts Cancer is a complex disease characterised by dynamic changes in the genome. Germline and somatic protein variants are present in cancer. Missense mutations in oncogenes or in tumour suppressor genes may promote uncontrolled cellular growth. Missense mutations may affect protein structure, stability and function. Structural and functional analysis of protein missense mutations in cancer may help in the development of personalised drugs.

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The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer

Cited by 6 publications

References 850 publications

Global trends in BRCA-related breast cancer research from 2013 to 2022: A scientometric analysis

Global trends in BRCA-related breast cancer research from 2013 to 2022: A scientometric analysis

The Fundamental Role of BARD1 Mutations and Their Applications as a Prognostic Biomarker for Cancer Treatment

Interpretation of Missense Variants Found in Association with Cancer

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