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...

Full description

Saved in:
Bibliographic Details
Published in:International journal of cancer 2004-07, Vol.110 (4), p.558-562
Main Authors: Dębniak, Tadeusz, Górski, Bohdan, Scott, Rodney J., Cybulski, Cezary, Mędrek, Krzysztof, Zowocka, Elzbieta, Kurzawski, Grzegorz, Dębniak, Boguslaw, Kadny, Józef, Bielecka‐Grzela, Stanislawa, Maleszka, Romuald, Lubiński, Jan
Format: Article
Language:English
Subjects:
Adult
Aged
ARF
Biological and medical sciences
breast cancer
Breast Neoplasms - genetics
CDKN2A
Dermatology
Female genital diseases
Gene Deletion
Genes, p16
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
malignant melanoma
Medical sciences
Melanoma - genetics
Middle Aged
Multiple Myeloma - genetics
multiplex ligation‐dependent probe amplification
Tumor Suppressor Protein p14ARF - genetics
Tumors
Tumors of the skin and soft tissue. Premalignant lesions
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:0020-7136
1097-0215
DOI:10.1002/ijc.20163