Familial atypical multiple mole-melanoma syndrome.
نویسندگان
چکیده
A family is described showing concordance for malignant melanoma and a cutaneous phenotype characterised by multiple large moles of variable size and colour (reddish-brown to bright red) with pigmentary leakage. Transmission of the cutaneous phenotype in the subject family, and in several others currently under investigation, shows an inheritance pattern consistent with a simple autosomal dominant factor. This cutaneous phenotype signifying melanoma risk may now be added to an increasing body of knowledge dealing with cancer-related genodermatoses.
منابع مشابه
Cancer Prone Disease Section
Alias: Familial pancreatic cancer Inheritance It has been estimated that as many as 10% of pancreatic cancers have a hereditary basis; five genetic syndromes have been identified that are associated with the familial aggregation of pancreatic cancer; these include: The second breast cancer syndrome (BRCA2), the familial atypical multiple mole melanoma (FAMMM), the Peutz-Jeghers Syndrome, the he...
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BACKGROUND Germline mutations at the INK4a/p16 locus are implicated in several human cancer syndromes, including familial atypical multiple mole melanoma (FAMMM) syndrome, FAMMM-pancreatic cancer (FAMMM-PC) syndrome, and in familial head and neck cancer syndrome. METHODS We present an individual with a family history of melanoma and pancreatic cancer who had multiple dysplastic nevi, squamous...
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The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterised by an autosomal dominantly inherited susceptibility to multiple atypical moles which show variable colouration ranging from black to brown, tan, red, or pink, with occasional variegation. These compound naevi may be macular or papular, with regular or irregular borders, and measure 1 cm or more in size. They may be f...
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Alias: Familial atypical mole-malignant melanoma syndrome (FAMMM); B-K mole syndrome Inheritance: Autosomal dominant with high penetrance and variable expressivity; the frequency of DNS is difficult to evaluate because a number of cases without malignant evolution are not recorded; DNS defines patients with numerous dysplastic nevi. FAMMM defines families where coexist numerous nevi with malign...
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عنوان ژورنال:
- Journal of medical genetics
دوره 15 5 شماره
صفحات -
تاریخ انتشار 1978