The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data

Gianni, Panagiota; Matenoglou, Evangelia; Geropoulos, Georgios; Agrawal, Nirav; Adnani, Harsha; Zafeiropoulos, Stefanos; Miyara, Santiago J.; Guevara, Sara; Mumford, J.M.; Molmenti, Ernesto P.; Giannis, Dimitrios

doi:10.1016/j.clbc.2021.08.001

Cited by 10 publications

(5 citation statements)

References 239 publications

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“…By conducting a review of the clinical data from large cohorts, Gianni P et al. summarized the role of Fanconi anemia-associated genes in sporadic and familial breast cancer ( 45 ). Yordanova M et al.…”

Section: Resultsmentioning

confidence: 99%

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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Section: Resultsmentioning

confidence: 99%

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

et al. 2023

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“…Fanconi anemia pathway is a cell's corrective response to DNA damage and alterations. [ 28 ] Some negative gene enrichments were found for lysosome (NES = −1.82, FDR = 0.02), and ribosome (NES = −1.90, FDR = 0.02) in tumor tissues treated with AMMOFs+HIFU compared to control group (Figure 7f). It has been identified that lysosome and ribosome are both closely connected with cancer cell growth and proliferation.…”

Section: Resultsmentioning

confidence: 99%

Banoxantrone Coordinated Metal−Organic Framework for Photoacoustic Imaging‐Guided High Intensity Focused Ultrasound Therapy

Sun

Zeng

et al. 2022

Adv Healthcare Materials

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BackgroundPhotoacoustic imaging (PA) with high spatial resolution has great potential as desired monitoring means in the high intensity focused ultrasound (HIFU) surgery of tumor. However, its penetration depth in the tissue does not meet the clinical needs. Nanomedicine provides a new opportunity for PA imaging to guide HIFU surgery. Our studies found that hypoxic heterogeneity of tumor was effectively reversed by HIFU. MethodsHerein, speci c metal-organic framework nanosystem, constructed by coordination of banoxantrone (AQ4N) and Mn 2+ , is designed based on HIFU to reverse hypoxic heterogeneity of tumor. ResultsIt could provide exogenous light-absorbing substances, thus improves the penetrability of PA imaging signal through the deep tissue and achieves clearer PA imaging for guiding HIFU surgery. In turn, AQ4N, in the hypoxic homogenous environment of tumor provided by HIFU, is activated sequentially to speci cally treat the residual hypoxic tumor cells. ConclusionsThis strategy addresses the dissatisfaction of PA imaging-guided HIFU therapy and is promising for translation into a clinical combination regimen.

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“…Mutations in FA genes other than BRCA1 / 2 , PALB2 and RAD51C were not identified in the study subjects (NCT03344965) (Litton et al 2018 ). A clinical study evaluating the efficacy and safety of Olaparib combination immunotherapy in patients with solid tumors carrying HR-related gene mutations is ongoing (NCT04169841) (Fumet et al 2020 ). Although conclusive clinical evidence for the utilization of PARP inhibitors in FA gene-mutated cancers is still lacking, a case report provided evidence that one ovarian cancer patient carrying a FANCA mutation benefitted from a PARP inhibitor (Qian et al 2022 ), which suggests a potential therapeutic option for FA gene-mutated cancers.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer

Zhu

et al. 2023

J Cancer Res Clin Oncol

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Background Four Fanconi anemia (FA) genes (BRCA1, BRCA2, PALB2 and RAD51C) are defined as breast cancer (BC) susceptibility genes. Other FA genes have been inconsistently associated with BC. Thus, the role of other FA genes in BC should be explored in specific populations. Methods Mutations in 16 FA genes were screened with a 98-gene panel sequencing assay in a cohort of 1481 Chinese patients with high-risk hereditary BC. The association between mutations and clinicopathological characteristics as well as prognosis was analyzed. The risk of BC in carriers of FA gene mutations was assessed in the Genome Aggregation Database and the Westlake Biobank for Chinese cohort. Results A total of 2.57% (38/1481) BC patients were identified who had 12 other FA gene germline mutations. Among them, the most frequently mutated gene was FANCA (8/1481, 0.54%). These 38 patients carried 35 distinct pathogenic/likely pathogenic variants, of which 21 were novel. We found one rare FANCB deleterious variant (c.1327-3dupT) in our cohort. There was a statistically significant difference in lymph node status between FA gene mutation carriers and non-carriers (p = 0.041). We observed a trend that mutation carriers had larger tumor sizes, lower estrogen receptor (ER) and progesterone receptor (PR) positivity rates, and lower 3.5-year invasive disease-free survival (iDFS) and distant recurrence-free survival (DRFS) rates than non-carriers (tumor size > 2 cm: 51.43% vs. 45.63%; ER positivity rates: 51.43% vs. 60.81%; PR positivity rates: 48.57% vs. 55.16%; 3.5-year iDFS rates: 58.8% vs. 66.7%; 3.5-year DRFS rates: 58.8% vs. 68.8%). The frequency of the mutations in FANCD2, FANCM and BRIP1 trended to be higher among BC cases than that in controls (p = 0.055, 0.08 and 0.08, respectively). Conclusion This study comprehensively estimated the prevalence, clinicopathological characteristics, prognosis and risk of BC associated with deleterious variants in FA genes in Chinese high-risk hereditary BC patients. It enriches our understanding of the role of FA genes with BC.

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The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data

Cited by 10 publications

References 239 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

Banoxantrone Coordinated Metal−Organic Framework for Photoacoustic Imaging‐Guided High Intensity Focused Ultrasound Therapy

A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer

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