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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Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1086/303076
P932PMC publication ID1287889
P698PubMed publication ID10978226
P5875ResearchGate publication ID12344477

P50authorKatherine L NathansonQ37369859
P2093author name stringA M Martin
B L Weber
G M Lenoir
M A Unger
S Mazoyer
K Calzone
H A Shih
D Antin-Ozerkis
P2860cites workComplete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1Q24321914
High frequency of large intragenic deletions in the Fanconi anemia group A geneQ24534222
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Structural alterations of the BCR and ABL genes in Ph1 positive acute leukemias with rearrangements in the BCR gene first intron: further evidence implicating Alu sequences in the chromosome translocationQ24624693
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domainsQ26269836
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage ConsortiumQ29619206
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening GroupQ34141842
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancerQ34145544
The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genesQ34145680
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten familiesQ34321216
The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21.Q34388196
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patientsQ34444787
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer familiesQ35238493
An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.Q35643677
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer familiesQ36620818
Conversion of diploidy to haploidyQ40897610
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?Q43218212
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor geneQ44847024
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysisQ71960074
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17Q73090990
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancerQ73328358
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer familyQ73670657
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 10Q73912443
A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer familyQ74427899
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutationQ74643959
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletionsQ77931925
Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer familiesQ78093600
P4510describes a project that usesImageQuantQ112270642
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectovarian cancerQ172341
electrophoresisQ185098
P304page(s)841-850
P577publication date2000-09-07
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleScreening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing
P478volume67

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