Familial Atypical Multiple Mole Melanoma Syndrome – FAMMM

Czech version

Authors: L. Foretová ¹; E. Macháčková ¹; M. Šachlová ²; K. Petrakova ²; M. Palacova ²
Authors‘ workplace: Oddělení epidemiologie a genetiky nádorů, Brno 2Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno ¹
Published in: Klin Onkol 2009; 22(Supplementum): 32-33

Sources

1. Bartsch DK, Sina-Frey M, Lang S et al. CDKN2A germline mutations in familial pancreatic cancer. Annals of Surgery 2002; 236(6): 730-737.

2. Bishop DT, Demenais F, Goldstein AM et al. Geographical variation in the penetrance of CDKN2A mutation for melanoma. JNCI 2002; 94(12): 894-903.

3. Borg A, Sandberg T, Nilsson K et al. High frequency of multiple melanomas and breast and pancreatic carcinomas in CDKN2A mutation-positive families. JNCI 2000; 92(15): 1260-1266.

4. Debniak T, Gorski B, Scott RJ et al. Germline mutations and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer. Int J Cancer 2004; 110: 558-562.

5. Dilworth D, Liu L, Stewart K et al. Germline CDK2A mutations implicated in predisposition to multiple myeloma. Blood 2000; 95(5): 1869-1871.

6. Hansen CB, Wadge LM, Lowstuter K et al. Clinical germline genetic testing for melanoma. The Lancet Oncology 2004; 5: 314-319.

7. Harland M, Meloni R, Gruis N et al. Germline mutations of CDKN2 gene in UK melanoma families. Human Molecular Genetics 1997; 6(12): 2061-2067.

8. Hearle N, Damato BE, Humphreys J. Contribution of germline mutations in BRCA2, p16INK4A, p14 and p15 to uveal melanoma. Investigative Ophtalmology and Visual Science 2003; 44(2): 458-462.

9. Lindor NM, Greene MH et al. The concise handbook of family cancer syndromes. JNCI 1998; 90(14): 1039-1071.

10. Monzon J, Liu L, Brill H et al. CDKN2A mutations in multiple primary melanomas. NEJM 1998; 338(13): 879-887.

11. Prowse AH, Schultz DC, Guo S et al. Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindreds. J Med Genet 2003; 40: 1-7.

12. Randerson-Moor JA, Harland M, Williams S et al. A germline deletion of p14ARF but not CDKN2A in a melanoma-neural system tumour syndrome family. Human Molecular Genetics 2001; 10(1): 55-62.

13. Soufir N, Lacapere JJ, Bertrand G et al. Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma. BJC 2004; 90: 503-509.

14. Della Torre G, Pasini B, Frigerio S et al. CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. BJC 2001; 85(6): 836–844.

15. www.genomel.org