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1 November 2005 ESTABLISHMENT OF THREE HUMAN BREAST EPITHELIAL CELL LINES DERIVED FROM CARRIERS OF THE 999del5 BRCA2 ICELANDIC FOUNDER MUTATION
AGLA J. RUBNER FRIDRIKSDOTTIR, THORARINN GUDJONSSON, THORHALLUR HALLDORSSON, JOHANNES BJÖRNSSON, MARGRET STEINARSDOTTIR, OSKAR THOR JOHANNSSON, HELGA M. ÖGMUNDSDOTTIR
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Abstract

Germ line mutations in BRCA1 and BRCA2 account for a large proportion of inherited breast and ovarian cancer. Both genes are involved in DNA repair by homologous recombination and are thought to play a vital role in maintaining genomic stability. A major drawback for long-term functional studies of BRCA in general and BRCA2 in particular has been a lack of representative human breast epithelial cell lines. In the present study, we have established three cell lines from two patients harboring the 999del5 germ line founder mutation in the BRCA2 gene. Primary cultures were established from cellular outgrowth of explanted tissue and subsequently transfected with a retroviral construct containing the HPV-16 E6 and E7 oncogenes. Paired cancer-derived and normal-derived cell lines were established from one patient referred to as BRCA2-999del5-2T and BRCA2-999del5-2N, respectively. In addition, one cell line was derived from cancer-associated normal tissue from another patient referred to as BRCA2-999del5-1N. All three cell lines showed characteristics of breast epithelial cells as evidenced by expression of breast epithelial specific cytokeratins. Cytogenetic analysis showed marked chromosomal instability with tetraploidy and frequent telomeric associations. In conclusion, we have established three breast epithelial cell lines from two patients carrying the BRCA2 Icelandic 999del5 founder mutation. These cell lines form the basis for further studies on carcinogenesis and malignant progression of breast cancer on a defined genetic background.

AGLA J. RUBNER FRIDRIKSDOTTIR, THORARINN GUDJONSSON, THORHALLUR HALLDORSSON, JOHANNES BJÖRNSSON, MARGRET STEINARSDOTTIR, OSKAR THOR JOHANNSSON, and HELGA M. ÖGMUNDSDOTTIR "ESTABLISHMENT OF THREE HUMAN BREAST EPITHELIAL CELL LINES DERIVED FROM CARRIERS OF THE 999del5 BRCA2 ICELANDIC FOUNDER MUTATION," In Vitro Cellular & Developmental Biology - Animal 41(10), 337-342, (1 November 2005). https://doi.org/10.1290/0505033.1
Received: 10 May 2005; Accepted: 1 August 2005; Published: 1 November 2005
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KEYWORDS
BRCA2 mutation
Breast cancer
cell lines
immortalization
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