Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland

被引：13

作者：

Debniak, Tadeusz ^{[1
]}

van de Wetering, Thierry ^{[1
]}

Scott, Rodney ^{[5
,6
]}

Nagay, Leszek ^{[4
]}

Cybulski, Cezary ^{[1
]}

Gorski, Bohdan ^{[1
]}

Jakubowska, Annia ^{[1
]}

Gronwald, Jacek ^{[1
]}

Masojc, Bartlomiej ^{[1
]}

Huzarski, Tomasz ^{[1
]}

Byrski, Tomasz ^{[1
]}

Nej-Wolosiak, Katarzyna ^{[1
]}

Kladny, Jozef ^{[2
]}

Maleszka, Romuald ^{[3
]}

Lubinski, Jan ^{[1
]}

机构：

[1] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, PL-70115 Szczecin, Poland

[2] Pomeranian Med Univ, Dept Surg 3, PL-70115 Szczecin, Poland

[3] Pomeranian Med Univ, Dept Dermatol & Venerol, PL-70115 Szczecin, Poland

[4] Reg Oncol Hosp, Szczecin, Poland

[5] Univ Newcastle, Fac Hlth, Discipline Med Genet, Newcastle, NSW 2308, Australia

[6] Hunter Med Res Inst, Newcastle, NSW, Australia

来源：

EUROPEAN JOURNAL OF CANCER PREVENTION | 2008年 / 17卷 / 05期

关键词：

breast cancer; CDKN2A/ARF; early onset; malignant melanoma; pancreatic cancer;

D O I：

10.1097/CEJ.0b013e3282f75eb1

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In this report the contribution of CDKN2A/ARF germline mutations to early-onset cancers of the breast, pancreas and malignant melanoma was examined. We screened 66 women with breast cancer diagnosed at age 30 and below, 72 melanoma patients with the median age at diagnosis <= 40 years and 51 pancreatic cancer patients diagnosed under the age of 50 years. In the total set of 189 patients we found a novel change Pro48Arg (nt 143c > g), a novel intronic change IVS1 + 36 g > c and two common variants A148T and IVS3 + 29 c > g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma.

引用

页码：389 / 391

页数：3

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