Abstract:
:Numerous allelic variants identified in the familial breast cancer and DNA repair genes BRCA1 and BRCA2 are of unknown impact on protein function or clinical relevance, referred to as unclassified variants (UCV). Lymphocytes from pathogenic BRCA1/2 mutation carriers exhibit an increased level of chromosomal damage after irradiation. We established a radiation assay for the discrimination of pathogenic BRCA2 variants versus controls based on the level of chromosomal damage upon irradiation (p < 0.001). As a consequence, lymphocytes from UCV carriers could be separated into two distinct groups with normal or diminished DNA double strand break repair capacity. Our results suggested that all five UCV tested were benign and that one family carried a putative mutation in an as yet undetected DNA-repair gene. Thus, our test may serve as a valuable tool that aids the classification of BRCA2 UCV, but very likely also of BRCA1 UCV or aberrations in other genes involved in the DNA-repair system.
journal_name
Breast Cancer Res Treatjournal_title
Breast cancer research and treatmentauthors
Becker AA,Graeser MK,Landwehr C,Hilger T,Baus W,Wappenschmidt B,Meindl A,Weber RG,Schmutzler RKdoi
10.1007/s10549-012-2119-0subject
Has Abstractpub_date
2012-08-01 00:00:00pages
167-75issue
1eissn
0167-6806issn
1573-7217journal_volume
135pub_type
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章
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更新日期:2008-05-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF01806082
更新日期:1996-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:1988-09-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2011-02-01 00:00:00
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更新日期:2015-11-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2010-07-01 00:00:00
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journal_title:Breast cancer research and treatment
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1023/a:1005951125574
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更新日期:2007-03-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2016-06-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
doi:10.1007/BF00666176
更新日期:1994-01-01 00:00:00
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更新日期:2011-07-01 00:00:00
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journal_title:Breast cancer research and treatment
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更新日期:2017-01-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章,评审
doi:10.1023/B:BREA.0000018423.47497.c6
更新日期:2004-03-01 00:00:00
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journal_title:Breast cancer research and treatment
pub_type: 杂志文章
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更新日期:2008-05-01 00:00:00
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