24 e-Letters

published between 2007 and 2010

  • Anthropometric evaluation of children with SHOX mutations
    Alexander A. L. Jorge

    Dear Editor

    In their recent article, Rappold et al. (1) investigated the presence of SHOX defects in a large cohort of 1,608 short stature children, and found 58% of SHOX mutations/deletions in 55 children with Leri-Weill dyschondrosteosis (LWD) and 2.2% in 1,534 cases considered to have idiopathic short stature. The authors created an evidence-based scoring system based on clinical grounds obtained from the 68 patien...

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  • Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
    D Gareth Evans
    Dear Editor

    We wish to reply to the interesting comments concerning our paper on phenocopies in families positive for mutations in BRCA1/2 genes since its e publication in October 2006 [1]. We understand the reservations about changing practice in reassuring individuals who test negative for a family mutation based on one largely retrospective analysis of families and clearly there is a need to confirm our results in other l...

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  • Phenocopies: actual risk or self-fulfilling prophecy?
    Francois Eisinger

    Dear Editor

    The contribution of Smith et al 1 regarding the risk cancer in women who test negative for a known familial BRCA mutation is extremely valuable for both clinicians and researchers, and deserves critical attention. Indeed, not only the current NICE guidelines but most other statements on inherited risk for breast and ovarian cancer suggest reassurance for relatives found to be free of a familia...

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  • BRCA Phenocopies or Ascertainment Bias?
    David E Goldgar

    Dear Editor:

    In a recent issue of the Journal of Medical Genetics, Smith et al (1) report a significantly elevated risk of breast cancer among non-carriers in breast cancer families in which a BRCA1 or BRCA2 mutation had been identified through clinical testing. The authors found an elevated risk of approximately 5-fold, which, if true, has considerable impact on the counseling and clinical management of wom...

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