Exon deletions and duplications in BRCA1 detected by semiquantitative PCR

Genetic Testing

Volumn 4, Issue 1, 2000, Pages 49-54

  Robinson, M D ^a   Chu, C E ^a   Turner, G ^a   Bishop, D T ^a   Taylor, G R ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BREAST CANCER; CONTROLLED STUDY; EXON; FLUORESCENCE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; ONCOGENE; OVARY CANCER; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

BRCA1 PROTEIN; BREAST NEOPLASMS; DNA; DNA MUTATIONAL ANALYSIS; EVALUATION STUDIES; EXONS; FEMALE; FLUORESCENCE; FOUNDER EFFECT; GENE DOSAGE; GENETIC SCREENING; GREAT BRITAIN; HUMANS; INCIDENCE; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION;

EID: 0034102287     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065700316471     Document Type: Article

References (10)

1. COUCH, F.J., WEBER, B.L., and the BREAST CANCER INFORMATION CORE. (1996). Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat. 8, 8-18.
2. GAYTHER, S.A., HARRINGTON, P., RUSSELL, P., KHARKEVICH, G., GARKAVTSEVE, R.F., and PONDER, B.A. (1996). Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group. Am. J. Hum. Genet. 58, 451-456.
3. NORDLING, M., KARLSSON, P., WAHLSTROM, J., ENGWALL, Y., WALLGREN, A., and MARTINSSON, T. (1998). A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res. 58, 1372-1375.
4. PETRIJ-BOSCH, A., PEELEN, T., VANVLIET, M., et al. (1997). BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genet. 17, 503.
5. PUGET, N., TORCHARD, D., SEROVA SINILNIKOVA, O.M., et al. (1997). A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res. 57, 828-8331.
6. PUGET, N., SINILNIKOVA, O.M., STOPPA LYONNET, D., AUDOYNAUD, C., PAGES, S., LYNCH, H., GOLDGAR, D., LENOIR, G., and MAZOYER, S. (1991a). An Alu-mediated 6-kb duplication in the BRCA1 gene: A new founder mutation? Am. J. Hum. Genet. 64, 300-303.
7. PUGET, N., STOPPA LYONNET, D., SINILNIKOVA, O.M., et al. (1999b). Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res. 59, 455-461.
8. SWENSEN, J., HOFFMAN, M., SKOLNICK, M.H., and NEUHAUSEN, S.L. (1997). Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum. Mol. Genet. 6, 1513-1517.
9. WAGNER, T.M., HIRTENLEHNER, K., SHEN, P., et al. (1999). Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Mol. Genet. 8, 413-423.
10. YAU, S.C., BOBROW, M., MATHEW, C.G., and ABBS, S.J. (1996). Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J. Med. Genet. 33, 550-558.