34 citations
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August 2018 in “Cancer research” In this study, researchers found that selectively disabling ribonucleotide excision repair in mouse epidermis caused DNA damage, skin inflammation, and led to skin cancer, suggesting a potential role for this repair mechanism in tumorigenesis.
6 citations
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May 2016 in “Experimental Dermatology” This study by Flores and colleagues found that the type of tumor that develops in a specific subset of epidermal stem cells is influenced by which tumor suppressor gene is deleted.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
2 citations
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October 2023 in “Cancer Reports” This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.
4 citations
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January 2014 in “The Journal of urology/The journal of urology” This study found that folliculin deficient renal cancer cells were more sensitive to irradiation due to increased autophagic cell death, suggesting a potentially enhanced therapeutic approach when combined with autophagy inducers like rapamycin.
This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
September 2023 in “Journal of the American Academy of Dermatology” In this study of pediatric melanocytic lesions, researchers at Massachusetts General Hospital observed no concurrent BAP1 loss and BRAFV600E positivity, characteristics of adult BIMT, suggesting that these tumors may develop at a later age rather than in childhood.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
April 2012 in “The Journal of Urology” This case-control study found that men with earlier onset androgenetic alopecia, particularly frontal balding, may have an increased risk of prostate cancer in a multiethnic veterans cohort.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
15 citations
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August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
3 citations
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August 2013 in “Journal of the National Cancer Institute” This study reported an almost doubling of advanced breast cancer incidence in women under 40 over three decades, but its significance remains uncertain and requires further confirmation.
53 citations
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October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
145 citations
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May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
1 citations
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December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
This study found that chemically induced skin tumors in mice predominantly originated from Lgr6 + and/or Lrig1 + stem cells of the upper hair follicle rather than from other stem cell populations.
2 citations
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June 2006 in “Journal of Clinical Pathology” This study found that the expression of certain biomarkers, including HER-2 and oestrogen receptor alpha, in breast skin may be influenced by the presence of breast cancer, suggesting a systemic effect.
April 2012 in “The Journal of Urology” This meta-analysis reported that dietary intake of omega-3 or omega-6 fatty acids does not significantly impact prostate cancer risk.
July 2021 in “Plastic and reconstructive surgery. Global open” This study identified specific genes involved in radiation-induced fibrosis in skin, capsule, and muscle tissues of breast cancer patients, offering insights that may help improve mitigation strategies for these side effects.
8 citations
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February 2002 in “Journal of Medical Genetics” In this study, synchrotron fibre diffraction identified changes in dermal collagen microfibrillar radius with age, with lower radii observed in individuals with insulin-dependent diabetes mellitus.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.