An Alu-mediated 6-kb duplication in the BRCA1 gene: A new founder mutation? [4]

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 300-302

  Puget, N ^a   Sinilnikova, O M ^a   Stoppa Lyonnet, D ^a   Audoynaud, C ^a   Pages, S ^a   Lynch, H T ^a   Goldgar, D ^a   Lenoir, G M ^a   Mazoyer, S ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA;

BREAST CANCER; CANCER GENETICS; CARCINOGENESIS; FAMILY STUDY; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; OVARY CANCER; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033360968     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302211     Document Type: Letter

References (9)

1. D Ford DF Easton M Stratton S Narod D Goldgar P Devilee DT Bishop Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families Am J Hum Genet 62 1998 676 689
2. SL Neuhausen S Mazoyer L Friedman M Stratton K Offit A Caligo G Tomlinson Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study Am J Hum Genet 58 1996 271 280
3. A Petrij-Bosch T Peelen M van Vliet R van Eijk R Olmer M Drusedau FBL Hogervorst BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients Nat Genet 17 1997 341 345
4. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pagès S, Lynch HT, Lenoir GM, Mazoyer S. Screening for germline rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res (in press)
5. N Puget D Torchard OM Serova-Sinilnikova HT Lynch J Feunteun GM Lenoir S Mazoyer A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17 Cancer Res 57 1997 828 831
6. O Serova M Montagna D Torchard SA Narod P Tonin B Sylla HT Lynch A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families Am J Hum Genet 58 1996 42 51
7. TM Smith MK Lee CI Szabo N Jerome M McEuen M Taylor L Hood Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1 Genome Res 6 1996 1029 1049
8. D Stoppa-Lyonnet P Laurent-Puig L Essioux S Pagès G Ithier L Ligot A Fourquet BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic Am J Hum Genet 60 1997 1021 1030
9. J Swensen M Hoffman MH Skolnick SL Neuhausen Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family Hum Mol Genet 6 1997 1513 1517