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Phenotypic Variation in Familial MelanomaConsequences for Predictive DNA Testing
Wilma Bergman, MD, PhD;
Nelleke A. Gruis, PhD
Arch Dermatol. 2007;143(4):525-526.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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In this issue of the ARCHIVES, Figl and colleagues1 from Heidelberg, Germany, report a family in which the proband had multiple primary melanomas as well as her mother's sister. During the course of the investigation, the proband's sister was also diagnosed as having melanoma in situ. This familial predisposition is indicative of familial atypical multiple mole melanoma (FAMMM) syndrome, for which the clinical criteria are 2 first-degree relatives with melanoma or 2 cases (even if more distant relatives) if 1 or both have had multiple primary melanomas or 3 or more cases on the same side of the family. The presence of atypical moles is thus irrelevant in respect of the definition of FAMMM, although in most families, individuals with characteristic nevus phenotypes are present.
Out of scientific interest, gene investigations were carried out in the German family. Surprisingly, the . . . [Full Text of this Article] AUTHOR INFORMATION
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