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Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families.
Clin Genet 2010; 77(4):333-41CG

Abstract

Families with both melanoma and pancreatic cancer are extremely rare and some are affected with the autosomal dominant inherited familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome. The phenotypic and genotypic expressions of such pancreatic cancer-melanoma prone families are not well defined. The National Case Collection of Familial Pancreatic Cancer of the Deutsche Krebshilfe includes 110 pancreatic cancer families, 18 of which (16%) show an association of pancreatic cancer and melanoma. These 18 families were analysed regarding their phenotype and the prevalence of germline mutations in the candidate genes CDKN2A, BRCA2, CHEK2, NOD2, ARL11 and Palladin (PALLD). There were two types of families: five families with the FAMMM-PC phenotype and 13 PC/melanoma families without the multiple mole phenotypes (PCMS). The prevalences of PC and melanoma in the two types of families were similar. The prevalence of other tumour types, especially breast carcinoma, was higher (11%) in PCMS- than in FAMMM-PC families (2.4%, p = 0.02). CDKN2A mutations were identified in 2 of 18 (11%) PCMS families. A cosegregating BRCA2 mutation was detected in one PCMS family without breast cancer. None of the reported germline mutations in the NOD2, Palladin, ARL11 or CHEK2 genes were detected in either type of family. In conclusion, families with an accumulation of PC and melanoma show a large variety of phenotypic expression, which is not always consistent with the FAMMM-PC phenotype. More PC/melanoma-prone families need to be analysed to clarify whether such families represent variations of the FAMMM-PC syndrome or two distinct hereditary cancer syndromes.

Authors+Show Affiliations

Department of Surgery, Philipps-University, Marburg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20041885

Citation

Bartsch, D K., et al. "Clinical and Genetic Analysis of 18 Pancreatic Carcinoma/melanoma-prone Families." Clinical Genetics, vol. 77, no. 4, 2010, pp. 333-41.
Bartsch DK, Langer P, Habbe N, et al. Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. Clin Genet. 2010;77(4):333-41.
Bartsch, D. K., Langer, P., Habbe, N., Matthäi, E., Chaloupka, B., Sina, M., ... Slater, E. P. (2010). Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. Clinical Genetics, 77(4), pp. 333-41. doi:10.1111/j.1399-0004.2009.01352.x.
Bartsch DK, et al. Clinical and Genetic Analysis of 18 Pancreatic Carcinoma/melanoma-prone Families. Clin Genet. 2010;77(4):333-41. PubMed PMID: 20041885.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families. AU - Bartsch,D K, AU - Langer,P, AU - Habbe,N, AU - Matthäi,E, AU - Chaloupka,B, AU - Sina,M, AU - Hahn,S A, AU - Slater,E P, Y1 - 2009/12/22/ PY - 2010/1/1/entrez PY - 2010/1/1/pubmed PY - 2010/9/15/medline SP - 333 EP - 41 JF - Clinical genetics JO - Clin. Genet. VL - 77 IS - 4 N2 - Families with both melanoma and pancreatic cancer are extremely rare and some are affected with the autosomal dominant inherited familial atypical multiple mole melanoma-pancreatic cancer (FAMMM-PC) syndrome. The phenotypic and genotypic expressions of such pancreatic cancer-melanoma prone families are not well defined. The National Case Collection of Familial Pancreatic Cancer of the Deutsche Krebshilfe includes 110 pancreatic cancer families, 18 of which (16%) show an association of pancreatic cancer and melanoma. These 18 families were analysed regarding their phenotype and the prevalence of germline mutations in the candidate genes CDKN2A, BRCA2, CHEK2, NOD2, ARL11 and Palladin (PALLD). There were two types of families: five families with the FAMMM-PC phenotype and 13 PC/melanoma families without the multiple mole phenotypes (PCMS). The prevalences of PC and melanoma in the two types of families were similar. The prevalence of other tumour types, especially breast carcinoma, was higher (11%) in PCMS- than in FAMMM-PC families (2.4%, p = 0.02). CDKN2A mutations were identified in 2 of 18 (11%) PCMS families. A cosegregating BRCA2 mutation was detected in one PCMS family without breast cancer. None of the reported germline mutations in the NOD2, Palladin, ARL11 or CHEK2 genes were detected in either type of family. In conclusion, families with an accumulation of PC and melanoma show a large variety of phenotypic expression, which is not always consistent with the FAMMM-PC phenotype. More PC/melanoma-prone families need to be analysed to clarify whether such families represent variations of the FAMMM-PC syndrome or two distinct hereditary cancer syndromes. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/20041885/Clinical_and_genetic_analysis_of_18_pancreatic_carcinoma/melanoma_prone_families_ L2 - https://doi.org/10.1111/j.1399-0004.2009.01352.x DB - PRIME DP - Unbound Medicine ER -