Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method

Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes have been found by conventional PCR‐based mutation detection methods. Complex germline rearrangements such as those reported in the BRCA1 gene...

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Bibliographic Details
Published in:Human mutation 2003-07, Vol.22 (1), p.103-104
Main Authors: Hofmann, Wera, Görgens, Heike, John, Anika, Horn, Denise, Hüttner, Christine, Arnold, Norbert, Scherneck, Siegfried, Schackert, Hans K.
Format: Article
Language:English
Subjects:
Adult
BRCA1
BRCA1 Protein - genetics
breast cancer
Breast Neoplasms - genetics
cancer
DNA, Neoplasm - blood
DNA, Neoplasm - genetics
Family
Female
fluorescent multiplex PCR
Gene Frequency - genetics
Gene Rearrangement - genetics
Genes, BRCA1
Genetic Testing - methods
Germany - epidemiology
Humans
Lymphocytes - chemistry
Male
Middle Aged
ovarian cancer
Ovarian Neoplasms - genetics
Polymerase Chain Reaction - methods
Sensitivity and Specificity
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Summary:Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes have been found by conventional PCR‐based mutation detection methods. Complex germline rearrangements such as those reported in the BRCA1 gene are often not detectable by these standard diagnostic techniques. To detect large deletions or duplications encompassing one or more exons of the BRCA1 gene and in order to estimate the frequency of BRCA1 rearrangements in German breast or ovarian cancer families, a semi‐quantitative multiplex PCR method was developed and applied to DNA samples of patients from families negatively tested for disease causing mutations in the BRCA1 and BRCA2 coding regions by direct sequencing. Out of 59 families analysed, one family was found to carry a rearrangement in the BRCA1 gene (duplication of exon 13). The results indicate that the semi‐quantitative multiplex PCR method is useful for the detection of large rearrangements in the BRCA1 gene and therefore represents an additional valuable tool for mutation analysis of BRCA1 and BRCA2. © 2003 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9154