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ePaper created 2014-09-15, 12:31:02 | version 1.32.01
Familial melanoma Around 1980 clinicians at the LUMC noticed that in some families from a nearby fishing village community several members had developed melanoma and sometimes showed a remarkable moliness. This combination of hereditary melanoma and dysplastic moles was named B-K Mole syndrome. Based on large pedigrees drawn by Lou Went and his co-workers at the department of Human Genetics a founder population of familial melanoma patients was suspected around the city of Leiden.[1] After a teaching visit of Arthur Sober from Harvard (Boston, USA) in 1982 the Pigmented Lesion clinic (PLC) at the LUMC department of dermatology was founded according to the Boston PLC model. Wilma Bergman, then a young resident, dedicated herself to the surveillance of the members of these families and continues to do so today. In 1987 she defended her thesis entitled “The dysplastic Nevus syndrome”. In close collaboration with professor Rune Frantz, the new head of the department of human genetics, in 1989 Nelleke Gruis started her PhD studies aimed at finding the genetic basis of this hereditary cancer syndrome, now called FAMMM (Familial Atypical Multiple Mole Melanoma) syndrome. In 1994, collaboration between the Leiden group and Mark Skolnick from Salt Lake City resulted in the identification of a melanoma-associated gene, called multiple tumour suppressor gene 1 (MTS1, later renamed as CDKN2A). One specific deletion of 19 basepairs in the CDKN2A gene appeared to be present in several Dutch melanoma pedigrees from the Leiden area, and was therefore called the P16-Leiden mutation.[2] In 1994 Nelleke Gruis was awarded her PhD degree for a thesis entitled ‘Genetics of the Familial Atypical Multiple Mole Melanoma syndrome’. From old population registers, she also proved that the families around Leiden indeed had a common ancestor around 1700. More recently, Femke de Snoo defined the whole tumour spectrum of the FAMMM 88 Patient with FAMMM syndrome at the LUMC Pigmented Lesion Clinic. BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:40 Pagina 88