(Q34065253)

30 July 2017

title

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations (English)

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30 July 2017

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4

Anne-Marie Gerdes

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Bent Ejlertsen

series ordinal

3

object named as

Bent Ejlertsen

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30 July 2017

5

Finn C Nielsen

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30 July 2017

Ane Y Steffensen

1

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30 July 2017

Lars Jønson

series ordinal

2

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30 July 2017

Thomas V O Hansen

series ordinal

6

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30 July 2017

publication date

1 September 2010

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30 July 2017

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30 July 2017

volume

9

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30 July 2017

issue

3

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30 July 2017

page(s)

283-287

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A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Structural basis for phosphorylation-dependent signaling in the DNA-damage response

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Splicing in action: assessing disease causing sequence changes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

SIFT: Predicting amino acid changes that affect protein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Human non-synonymous SNPs: server and survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Breast cancer genetics: what we know and what we need

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

The BRCA2 genetic variant IVS7 + 2T-->G is a mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Improved splice site detection in Genie

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

A common Greenlandic Inuit BRCA1 RING domain founder mutation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921502

The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping

28 October 2018

1 reference

12 December 2020

Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2

1 reference

12 December 2020

Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

1 reference

12 December 2020

Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain

1 reference

12 December 2020

Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling

1 reference

12 December 2020

10.1007/S10689-010-9345-6

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DOI

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Dimensions Publication ID

30 July 2017

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30 July 2017

1 reference