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

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 858-865

  Puget, Nadine ^a,b   Gad, Sophie ^c   Perrin Vidoz, Laure ^a   Sinilnikova, Olga M ^b   Stoppa Lyonnet, Dominique ^c   Lenoir, Gilbert M ^a,d   Mazoyer, Sylvie ^a  

^a BICHAT HOSPITAL   (France)

^b INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^c INSTITUT CURIE   (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ALLELISM; ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHROMOSOME MAP; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GENETIC RECOMBINATION; GENETIC SUSCEPTIBILITY; HUMAN; NUCLEOTIDE SEQUENCE; OVARY CANCER; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOGENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; TRANSCRIPTION REGULATION;

INSERTION SEQUENCES;

EID: 0036206745     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339434     Document Type: Article

References (29)

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3. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations
4. Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1
5. The 5′ end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21
6. Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements
7. 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
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19. A 1-kb Alu-mediated germline deletion removing BRCA1 exon 17
20. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
21. Exon deletions and duplications in BRCA1 detected by semiquantitative PCR
22. In-frame deletions of BRCA1 may define critical functional domains
23. 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
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25. A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families
26. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1
27. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family
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29. Isolation and characterisation of the NBR2 gene which lies head to head with the human BRCA1 gene