BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

@article{PetrijBosch1997BRCA1GD,
  title={BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients},
  author={Anne Petrij-Bosch and Tamara Peelen and Margreethe van Vliet and Ronald van Eijk and Renske Olmer and Marion Dr{\"u}sedau and Frans Hogervorst and Sandra Hageman and Petronella J.W. Arts and Marjolijn J. L. Ligtenberg and Hanne E J Meijers-Heijboer and Jan G. M. Klijn and Hans R.A. Vasen and Cees J. Cornelisse and L. J. van 't Veer and Egbert Bakker and G. J. B. Ommen and Peter Devilee},
  journal={Nature Genetics},
  year={1997},
  volume={17},
  pages={341-345}
}
To date, more than 300 distinct small deletions, insertions and point mutations, mostly leading to premature termination of translation1, have been reported in the breast/ovarian-cancer susceptibility gene BRCA1. The elevated frequencies of some mutations in certain ethnic subpopulations2–4 are caused by founder effects5,6, rather than by mutation hotspots. Here we report that the currently available mutation spectrum of BRCA1 has been biased by PCR-based mutation-screening methods, such as… 
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TLDR
A series of 27 American and 51 French breast cancer families in which no BRCA1 mutation was identified by classical techniques were analyzed, and four families were found to carry distinct deletions, suggesting the search for rearrangements appears mandatory in mutation screening studies.
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TLDR
BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% of the BRCA 1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.
Screening for BRCA2 mutations in 81 Dutch breast–ovarian cancer families
TLDR
Large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families.
Identification of a recurrent BRCA1 exon 21‐22 genomic rearrangement in Malay breast cancer patients
TLDR
The overall prevalence of BRCA1 and BRCa2 genomic rearrangements in a multiethnic cohort of Malaysian breast cancer patients is analysed, the breakpoints of the rearrangement breakpoints are mapped and a recurrent LGR found in three unrelated Malay families is reported.
Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family
TLDR
The five large rearrangements found in patients non-carriers of BRCA1/BRCA2 mutations reinforce the need of studying B RCA1 large genomic rearrangement in genetic counselling programs.
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TLDR
The evidence reported here supports a rather limited role of BRCA1 in breast carcinogenesis, and identifies four missense mutations, one at codon 271 leading to Val → Met substitution, and the other atcodon 1150 leading to Pro → Ser substitution.
BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations.
TLDR
BRCA1 germline mutations confer susceptibility to familial breast and ovarian cancer and the hypothesis that two of these families may have had common ancestors is supported, whereas in the third family the analysis was uninformative.
Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
TLDR
It is found that alternative splicing is a common phenomenon in the processing of the BRCA1 gene, and it is believed thatAlternative splicing may play a significant role in modulating the physiological function of BRCa1.
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A total of 254 BRCA1 mutations, 132 of which are unique, are reported here, which represent mutations entered into a database established by the Breast Cancer Information Core (BIC), which have appeared in the literature or have been submitted by BIC members and other contributors prior to publication.
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
TLDR
The heterogeneity of mutations, coupled with the large size of the gene, indicates that clinical application of BRCA1 mutation testing will be technically challenging.
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TLDR
A haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus is constructed, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCa2 mutations.
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TLDR
The protein truncation test (PIT) is used to screen for mutations in exon 11, which encodes 61 % of BRCA1, and detects aberrantly spliced products affecting exons 5 and 6 in one of two BRCa1–linked families examined.
Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.
TLDR
To identify possible features of the BRCA1 genomic region that may contribute to chromosomal instability as well as potential transcriptional regulatory elements, a 117,143-bp DNA sequence encompassing BRC a1 was obtained by random sequencing of four cosmids identified from a human chromosome 17 specific library.
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families
We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.
TLDR
Re rearrangements in the BRCA1 gene should be sought in breast/ovarian cancer families in which no mutations have been found by PCR-based methods in the coding region or in the splice sites.
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