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.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
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.
23 citations
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January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
26 citations
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June 2004 in “Clinical Genetics” This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.