Absence of rearrangements in the BRCA2 gene in human cancers

Chin, Suet-Feung; Wang, Q; Puisieux, Alain; Caldas, Carlos

doi:10.1054/bjoc.2000.1577

Cited by 6 publications

(2 citation statements)

References 19 publications

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“…This study concluded that large rearrangements in BRCA1 are uncommon in breast cancer. No rearrangements were identified in the BRCA2 gene by Southern blot analysis of 130 primary breast cancers and 83 cancer cell lines [Chin et al, 2001].…”

Section: Rearrangements Identified In Sporadic Tumorsmentioning

confidence: 98%

Genomic rearrangements in theBRCA1 andBRCA2 genes

2005

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Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 kb, scattered over 22 and 26 coding exons, respectively. The large majority of the alterations identified in these genes are point mutations and small insertions/deletions. However, an increasing number of large genomic rearrangements are being identified, especially in BRCA1. This review gives a brief overview of the techniques used to screen the BRCA1 and BRCA2 genes for large rearrangements, and describes those for which the breakpoints have been characterized. The principal mechanisms that are thought to lead to their formation, founder effects, and recombination hotspots, are also discussed.

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Section: Rearrangements Identified In Sporadic Tumorsmentioning

confidence: 98%

Genomic rearrangements in theBRCA1 andBRCA2 genes

2005

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“…Until recently, only two genomic rearrangements had been identified in six studies that analyzed hereditary breast cancer patients or primary breast tumors among diverse European populations ( Peelen et al , 2000 ; Lahti-Domenici et al , 2001 ; Chin et al , 2001 ; Wang et al , 2001 ; Gad et al , 2002 ; Bunyan et al , 2004 ). The greatly reduced incidence of large genomic alterations that affect BRCA2 compared to BRCA1 most likely reflects differences in the density of Alu repeat sequences at the two loci, and these initial studies were not very supportive of the inclusion of this type of analysis in routine mutation testing of HBOC families ( Preisler-Adams et al , 2006 ).…”

Section: Brca2 Rearrangementsmentioning

confidence: 99%

Genomic rearrangements in BRCA1 and BRCA2: a literature review

et al. 2009

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Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some high-risk families are due to the presence of intragenic rearrangements such as deletions, duplications or insertions that span whole exons. This article reviews the molecular aspects of BRCA1 and BRCA2 rearrangements and their frequency among different populations. An overview of the techniques used to screen for large rearrangements in BRCA1 and BRCA2 is also presented. The detection of rearrangements in BRCA genes, especially BRCA1, offers a promising outlook for mutation screening in clinical practice, particularly in HBOC families that test negative for a germline mutation assessed by traditional methods.

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