Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer (Q24796063)

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Language	Label	Description	Also known as
English	Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer	scientific article

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scholarly article

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Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer (English)

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Drakoulis Yannoukakos

13

object named as

Drakoulis Yannoukakos

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author name string

Ioulia Belogianni

1

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Angela Apessos

2

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Markos Mihalatos

3

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Evangelia Razi

4

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Stefanos Labropoulos

5

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Andreas Petounis

6

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Vasiliki Gaki

7

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Antonios Keramopoulos

8

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Nikos Pandis

9

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Kyriacos Kyriacou

10

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Andreas Hadjisavvas

11

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Paris Kosmidis

12

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Georgios Nasioulas

14

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language of work or name

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publication date

7 September 2004

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4

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1

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61

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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7 April 2017

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

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https://api.crossref.org/works/10.1186/1471-2407-4-61

22 April 2017

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

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7 April 2017

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Roles of BRCA1 in DNA damage repair: a link between development and cancer

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Functions of BRCA1 and BRCA2 in the biological response to DNA damage.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Breast cancer genetics: what we know and what we need

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

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

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

The BRCA1 C-terminal domain: structure and function.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Ethnic differences in cancer risk resulting from genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 September 2017

Population genetics of BRCA1 and BRCA2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

30 May 2018

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-4-61

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-4-61

21 January 2018

BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-4-61

21 January 2018

Frequency of BRCA1 and BRCA2 Mutations in Unselected Ashkenazi Jewish Patients With Colorectal Cancer

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-4-61

21 January 2018

Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program

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https://api.crossref.org/works/10.1186%2F1471-2407-4-61

21 January 2018

Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 November 2018

The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate Cancer Study Collaborators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 November 2018

Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=520816

28 November 2018

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

1 reference

https://pubmed.ncbi.nlm.nih.gov/15353005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/15353005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15353005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/15353005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15353005

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2407-4-61

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