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

M A Unger et al.

American journal of human genetics 67 (4), 841-50 (Oct 2000)

info:pmid/10978226

0002-9297 Journal Article Label: 17

Posted by bkremeyer to BRCA2 Protein Gene Dosage Single-Stranded Conformational Ethnic Groups ethnology Gene Rearrangement DNA Mutational Analysis Ovarian Neoplasms False Negative Reactions Duplicate Nucleic Acid Conformation Cohort Studies Exons Brca1 Neoplasm Proteins Breast Neoplasms transcription factors polymerase chain reaction Southern Support female P.H.S. U.S.Gov't Non-U.S.Gov't United States genetic screening methods blotting Recombination human Genes genetic polymorphism genetics mutation europe on Sun Mar 23 2008 at 19:49 UTC | info | related

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

American journal of human genetics 67 (1), 207-12 (Jul 2000)

info:pmid/10827109

0002-9297 Journal Article Label: 10

Posted by bkremeyer to frameshift mutation Multicenter Studies Heterozygote founder effect Age of Onset ethnology DNA Mutational Analysis Ovarian Neoplasms Gene Frequency Exons Brca1 Breast Neoplasms gene duplication England Middle Aged Support female Non-U.S.Gov't genetic screening Male Haplotypes Epidemiology human Genes genetics mutation on Sun Mar 23 2008 at 19:49 UTC | info | related

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

J Swensen et al.

Human molecular genetics 6 (9), 1513-7 (Sep 1997)

info:pmid/9285788

0964-6906 Journal Article Label: 13

Posted by bkremeyer to Crossing Over (Genetics) BRCA1 Protein tumor suppressor Sequence Deletion DNA Primers Restriction Mapping DNA Probes Nucleic Acid Hybridization Repetitive Sequences Promoter Regions (Genetics) Breast Neoplasms Nucleic Acid Introns polymerase chain reaction Middle Aged Southern Support female P.H.S. U.S.Gov't Haplotypes blotting adult human Genes genetics mutation on Sun Mar 23 2008 at 19:49 UTC | info | related

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

Jan P Schouten et al.

Nucleic acids research 30 (12), e57 (15 Jun 2002)

info:pmid/12060695

1362-4962 Journal Article Label: 16

Posted by bkremeyer to Trisomy Chromosome Aberrations Sequence Deletion DNA Mutational Analysis Proto-Oncogene Proteins Oligonucleotide Probes Single Nucleotide Exons Brca1 Neoplasm Proteins Base Sequence Sensitivity and Specificity Cell Line Tumor Cells Cultured polymerase chain reaction Support female Non-U.S.Gov't Male methods human Genes polymorphism genetics mutation on Sun Mar 23 2008 at 19:49 UTC | info | related

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

E M Rohlfs et al.

Genes, chromosomes & cancer 28 (3), 300-7 (Jul 2000)

info:pmid/10862036

1045-2257 Journal Article Label: 4

Posted by bkremeyer to Non-U.S.Gov't Support Reverse Transcriptase Polymerase Chain Reaction genetic Recombination Ovarian Neoplasms Middle Aged human Haplotypes frameshift mutation female Exons Neoplasm DNA Chromosome Deletion Breast Neoplasms BRCA1 Protein Alu Elements genetics alternative splicing adult on Sun Mar 23 2008 at 19:49 UTC | info | related

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

N Puget et al.

American journal of human genetics 64 (1), 300-2 (Jan 1999)

info:pmid/9915971

0002-9297 Letter Label: 3

Posted by bkremeyer to BRCA1 Protein Alu Elements Sequence Deletion Germ-Line Mutation Gene Rearrangement Insertional Alleles Point Mutation Exons Molecular Sequence Data gene duplication polymerase chain reaction mutagenesis Support U.S.Gov't Non-P.H.S. Non-U.S.Gov't human genetics on Sun Mar 23 2008 at 19:49 UTC | info | related

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family

Sophie Gad et al.

Human mutation 21 (6), 654 (Jun 2003)

info:pmid/14961556 | info:doi/10.1002/humu.9148

1098-1004 Journal Article Label: 7

Posted by bkremeyer to BRCA1 Protein Pair 17 Family Health DNA Mutational Analysis Ovarian Neoplasms Gene Deletion Breast Neoplasms Base Sequence Molecular Sequence Data Chromosomes Support female Non-U.S.Gov't methods France human genetics proteins on Sun Mar 23 2008 at 19:49 UTC | info | related

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

Federica Casilli et al.

Human mutation 20 (3), 218-26 (Sep 2002)

info:pmid/12203994 | info:doi/10.1002/humu.10108

1098-1004 Journal Article Label: 15

Posted by bkremeyer to Non-U.S.Gov't Support Sequence Deletion Sequence analysis risk factors methods polymerase chain reaction Ovarian Neoplasms Molecular Sequence Data human gene duplication Fluorescent Dyes female Family Health chemistry Neoplasm DNA Breast Neoplasms Base Sequence genetics BRCA1 Protein on Sun Mar 23 2008 at 19:49 UTC | info | related

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

Sophie Gad et al.

Oncogene 21 (44), 6841-7 (03 Oct 2002)

info:pmid/12360411 | info:doi/10.1038/sj.onc.1205685

0950-9232 Journal Article Label: 19

Posted by bkremeyer to BRCA2 Gene Rearrangement Ovarian Neoplasms Point Mutation Brca1 Breast Neoplasms polymerase chain reaction Middle Aged Support female Non-U.S.Gov't adult human Genes genetics on Sun Mar 23 2008 at 19:49 UTC | info | related

Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination

Melissa A Brown et al.

Human mutation 19 (4), 435-42 (Apr 2002)

info:pmid/11933198 | info:doi/10.1002/humu.10055

1098-1004 Journal Article Label: 12

Posted by bkremeyer to Sequence Deletion Germ-Line Mutation DNA Mutational Analysis Restriction Mapping Alleles Great Britain Promoter Regions (Genetics) Exons Brca1 Breast Neoplasms Base Sequence Cell Line Introns polymeras