Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.
The CDKN2A/ARF genes have been associated with increased risk of malignant melanoma (MM) in families with multiple members affected by disease and in families characterized by the constellation of breast cancer and MM. The exact contribution of CDKN2A/ARF to disease risk remains poorly characterized, especially in diverse populations. In this report, the contribution of CDKN2A/ARF germline mutations and large rearrangements to disease in Polish familial MM (FMM) and aggregations of breast cancer and MM were assessed using a strategy that included genomic sequencing, restriction fragment length polymorphism and multiplex ligation-dependent probe amplification. We examined 16 FMM cases (group 1), 44 MM probands with a cancer family aggregation (CFA) that included at least one breast cancer (group 2) and 22 breast cancer probands with CFA and MM (group 3). The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA.
Debniak
Tadeusz
T
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. debniak@wp.pl
Górski
Bohdan
B
Scott
Rodney J
RJ
Cybulski
Cezary
C
Medrek
Krzysztof
K
Zowocka
Elzbieta
E
Kurzawski
Grzegorz
G
Debniak
Boguslaw
B
Kadny
Józef
J
Bielecka-Grzela
Stanislawa
S
Maleszka
Romuald
R
Lubiński
Jan
J
D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D017353:Gene Deletion; D019942:Genes, p16; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D025803:Tumor Suppressor Protein p14ARF / Q000235:genetics*
D025803:Tumor Suppressor Protein p14ARF