BRCA1 mutations in primary breast and ovarian carcinomas

Science

Volumn 266, Issue 5182, 1994, Pages 120-122

  Futreal, P Andrew ^a   Liu, Qingyun ^b   Shattuck Eidens, Donna ^b   Cochran, Charles ^a   Harshman, Keith ^b   Tavtigian, Sean ^b   Bennett, L Michelle ^a   Haugen Strano, Astrid ^a   Swensen, Jeff ^c   Miki, Yoshio ^c   Eddington, Ken ^b   McClure, Melody ^b   Frye, Cheryl ^b   Weaver Feldhaus, Jane ^b   Ding, Wei ^b   Gholami, Zahra ^b   Soderkvist, Peter ^d   Terry, Lori ^a   Jhanwar, Suresh ^e   Berchuck, Andrew ^f   Iglehart, J Dirk ^f   Marks, Jeff ^f   Ballinger, Dennis G ^b   Barrett, J Cari ^a   Skolnick, Mark H ^b,c   Kamb, Alexander ^b   Wiseman, Roger ^a   more..

^a NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^b Utah   (United States)

^c UNIVERSITY OF UTAH   (United States)

^d LINKÖPING UNIVERSITY   (Sweden)

^e MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^f DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; OVARY CANCER; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 0028073794     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.7939630     Document Type: Article

References (27)

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16. Tumor DNA samples from Memorial Sloan-Kettering Cancer Center (MSKCC) were sequenced with a Cyclist cycle sequencing kit (Stratagene, La Jolla, CA) (12) and those from Duke University were sequenced with an ABI 373 automated fluorescent sequencer with PRISM dye terminators according to the manufacturer's suggestions. Sequences were analyzed with the Sequence Navigator software package (ABI, Foster City, CA). PCR-generated templates from genomic DNAs of the Duke University tumor samples as well as complementary DNA (cDNA) templates from 9 of the breast and all 12 of the ovarian tumors were examined by SSCA as described (23). Sequences of intron-based PCR primers used to amplify each of the 23 exons of BRCA1 and PCR conditions are available by anonymous FTP at the following internet address: Morgan, Med.utah.edu in the directory pub/BRCA1 or by fax at the following number: 801-584-3650. The Gen-Bank accession number for the BPCAI sequence is U14680.
17. The mutations found in BT098 and BT106 were absent from 162 Caucasian control chromosomes, the mutation found in OV24 was absent in 128 Caucasian chromosomes, and the mutation in MC44 was absent in 116 African American and 48 Caucasian control chromosomes.
18. Two intronic polymorphisms were detected. PM4 is located 143 bp upstream of exon 12 in intron 11. The A and C alleles were detected by allele-specific oligonucleotide hybridization in 116 and 56 chromosomes, respectively. PM5 is located 49 bp downstream of exon 18 in intron 18. The G and A alleles were detected in 123 and 55 chromosomes, respectively.
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27. We thank H. Brownlee, R. Bell, S. Neuhausen, S. Bayer, E. Harvey, and N. Glover for technical support; P. Vojta and T. Devereux for reviewing the manuscript; and F. Bartholomew for assistance in the preparation of the manuscript. Supported in part by NIH grants CA48711 and CA55914 (to M.H.S.), CA56749 (to J.D.I.), CA55640 (to A.B.), and the NIH Office of Minority Health.