Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot (Q37216697)

19 August 2017

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot (English)

1 reference

19 August 2017

Dominique Stoppa-Lyonnet

5

object named as

Dominique Stoppa-Lyonnet

0 references

Laure Perrin-Vidoz

3

object named as

Laure Perrin-Vidoz

1 reference

19 August 2017

7

Sylvie Mazoyer

1 reference

19 August 2017

4

Olga M Sinilnikova

1 reference

19 August 2017

Nadine Puget

1

1 reference

19 August 2017

Sophie Gad

2

1 reference

19 August 2017

Gilbert M Lenoir

6

1 reference

19 August 2017

language of work or name

English

0 references

publication date

5 March 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

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19 August 2017

4

1 reference

19 August 2017

858-865

1 reference

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Dynamic molecular combing: stretching the whole human genome for high-resolution studies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Alignment and Sensitive Detection of DNA by a Moving Interface

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379114

Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families

3 September 2018

1 reference

12 December 2020

Initiation of translation from a downstream in-frame AUG codon on BRCA1 can generate the novel isoform protein DeltaBRCA1(17aa)

1 reference

12 December 2020

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

1 reference

12 December 2020

In-frame deletions of BRCA1 may define critical functional domains

1 reference

12 December 2020

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

1 reference

12 December 2020

Recombination hotspot in NF1 microdeletion patients

1 reference

12 December 2020

A polymorphic stop codon in BRCA2

1 reference

12 December 2020

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

1 reference

12 December 2020

Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family

1 reference

12 December 2020

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

12 December 2020

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

1 reference

12 December 2020

Identifiers

DOI

10.1086/339434

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

11880951

1 reference