Distinct genetic and epigenetic changes in medullary breast cancer

被引：23

作者：

Osin, P ^{[1
]}

Lu, YJ

Stone, J

Crook, T

Houlston, RS

Gasco, M

Gusterson, BA

Shipley, J

机构：

[1] Royal Marsden Hosp, Dept Breast Pathol & Cytopathol, London SW3 6JJ, England

[2] Inst Canc Res, Sect Mol Carcinognesis, Sutton, Surrey, England

[3] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[4] St Marys Hosp, Sch Med, Ludwig Inst Canc Res, London, England

[5] Univ Glasgow, Western Infirm, Dept Pathol, Glasgow G11 6NT, Lanark, Scotland

[6] Azienda Ospedaliera S Croce & Carle, Dept Med Oncol, Cuneo, Italy

来源：

INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY | 2003年 / 11卷 / 03期

关键词：

medullary breast cancer; comparative genomic hybridization; genomic instability; BRCA1;

D O I：

10.1177/106689690301100301

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Genetic instability resulting in chromosome aneuploidy or mismatch repair deficiency characterizes cancer. Medullary carcinoma (MC) of the breast is a specific form of breast cancer with unique clinical, epidemiologic, and prognostic features, suggesting distinctive tumorigenic pathways. To investigate the nature of the genetic changes associated with MC we analyzed a series of 22 tumors. Chromosomal imbalances were assessed by comparative genomic hybridization (CGH) and mismatch repair (MMR) deficiency tested for through assessment of microsatellite instability (MSI) and expression of MLH1 and MSH2 genes. MMR deficiency was detected in only a small proportion of cases. The chromosomal copy number changes showed some similarities to BRCA1-associated tumors. A high level of BRCA1 promoter hypermethylation was detected, suggesting a possible role of this gene in MC development.

引用

页码：153 / 158

页数：6

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