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Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Abstract：

:Germline anomalies of the INK4a-ARF and Cdk4 genes were sought in a series of 89 patients suspected of having a genetic predisposition to melanoma. Patients were selected based on the following criteria: (a) familial melanoma (23 cases), (b) multiple primary melanoma (MPM; 18 cases), (c) melanoma and additional unrelated cancers (13 cases), (d) age at diagnosis less than 25 years (21 cases), and (e) nonphoto-induced melanoma (NPIM; 14 cases). Mutations of INK4a-ARF and Cdk4 were characterised by automated sequencing, and germline deletions of INK4a-ARF were also examined by real-time quantitative PCR. Seven germline changes of INK4a-ARF, five of which were novel, were found in seven patients (8%). Four were very likely to be pathogenic mutations and were found in three high-risk melanoma families and in a patient who had a pancreatic carcinoma in addition to melanoma. Three variants of uncertain significance were detected in one MPM patient, one patient <25 years, and one NPIM patient. No germline deletion of INK4a-ARF was found in 71 patients, and no Cdk4 mutation was observed in the 89 patients. This study confirms that INK4a-ARF mutations are infrequent outside stringent familial criteria, and that germline INK4a-ARF deletions are rarely involved in genetic predisposition to melanoma.

journal_name

Br J Cancer

journal_title

British journal of cancer

authors

Soufir N,Lacapere JJ,Bertrand G,Matichard E,Meziani R,Mirebeau D,Descamps V,Gérard B,Archimbaud A,Ollivaud L,Bouscarat F,Baccard M,Lanternier G,Saïag P,Lebbé C,Basset-Seguin N,Crickx B,Cave H,Grandchamp B

doi

10.1038/sj.bjc.6601503

subject

Has Abstract

pub_date

2004-01-26 00:00:00

pages

503-9

issue

2

eissn

0007-0920

issn

1532-1827

pii

6601503

journal_volume

90

pub_type

杂志文章

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