54 citations
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June 2023 in “International Journal of Molecular Sciences” This review reports that myricetin, a naturally occurring antioxidant in plants, may assist in cancer management by enhancing the effects of existing drugs and inhibiting inflammatory markers, based on in vivo and in vitro studies.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
48 citations
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October 2004 in “Molecular and Cellular Biology” In this study, Brca1(S971A/S971A) mice showed a moderately increased risk of spontaneous tumor formation and defects in DNA damage response, suggesting CHK2 phosphorylation of BRCA1 is crucial for tumor suppression.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
6 citations
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January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
January 2019 in “Dermatologic Surgery” This overview describes the Dermatologic Surgery journal, highlighting its comprehensive focus on various dermatologic surgery techniques, but it presents no new research findings.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
51 citations
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December 2006 in “Mammalian Genome” This study found that simultaneous inactivation of pRb and p53 genes in mice's epidermis accelerates aggressive squamous cell carcinoma development, highlighting p53 as a key tumor suppressor.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
This study found that the simultaneous inactivation of pRb and p53 genes in mouse epidermis accelerated aggressive squamous cell carcinoma development via activation of the epidermal growth factor receptor/Akt pathway.
32 citations
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September 2013 in “Breast cancer research” This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
173 citations
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July 2012 in “British Journal of Dermatology” This study found that the administration of the mutant BRAF inhibitor dabrafenib in patients with metastatic melanoma was associated with various skin lesions, including keratinocytic proliferation that sometimes showed low-grade malignancy features.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
64 citations
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February 2008 in “Cancer Research” This study reports that eliminating both Trp53 and Rb genes in mouse epidermis accelerates aggressive squamous cell carcinoma development due to early activation of the epidermal growth factor receptor/Akt pathway.
21 citations
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January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
3 citations
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March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.