The BRCA2 sequence variant IVS19+1G→A leads to an aberrant transcript lacking exon 19 [1]

Cancer Genetics and Cytogenetics

Volumn 141, Issue 2, 2003, Pages 175-176

  Agata, Simona ^a   De Nicolo, Arcangela ^a   Chieco Bianchi, Luigi ^a   D'Andrea, Emma ^a   Menin, Chiara ^a   Montagna, Marco ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA FRAGMENT;

BREAST CANCER; CANCER GENETICS; CANCER RISK; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETERODUPLEX ANALYSIS; HUMAN; LETTER; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OVARY CANCER; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

EXONS; GENES, BRCA2; RNA SPLICING; RNA, MESSENGER;

EID: 0037372326     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-4608(02)00763-X     Document Type: Letter

References (13)

1. Ford D., Easton D.F., Stratton M., Narod S., Goldgar D., Devilee P., Bishop D.T., Weber B., Lenoir G., Chang-Claude J., Sobol H., Teare M.D., Struewing J., Arason A., Scherneck S., Peto J., Rebbeck T.R., Tonin P., Neuhausen S., Barkardottir R., Eyfjord J., Lynch H., Ponder B.A., Gayther S.A., Birch J.M., Lindblom A., Stoppa-Lyonnet D., Bignon Y., Borg A., Hamann U., Haites N., Scott R.J., Maugard C.M., Vasen H., Seitz S., Cannon-Albright L.A., Schofild A., Zelada-Hedman M., the Breast Cancer Linkage Consortium Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 62:1998;676-689.
2. Wu L.C., Wang Z.W., Tsan J.T., Spillman M.A., Phung A., Xu X.L., Yang M.C., Hwang L.Y., Bowcock A.M., Baer R. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat Genet. 14:1996;430-440.
3. Vallon-Christersson J., Cayanan C., Haraldsson K., Loman N., Bergthorsson J.T., Brondum-Nielsen K., Gerdes A.M., Moller P., Kristoffersson U., Olsson H., Borg A., Monteiro A.N. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet. 10:2001;353-360.
4. Liu H.X., Cartegni L., Zhang M.Q., Krainer A.R. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet. 27:2001;55-58.
5. Laskie Ostrow K., DiCioccio R.A., McGuire V., Whittemore A.S. A BRCA1 variant, IVS23+1G→A, causes abnormal RNA splicing by deleting exon 23. Cancer Genet Cytogenet. 127(2):2001;188-190.
6. Ozcelik H., Nedelcu R., Chan V.W., Shi X.H., Murphy J., Rosen B., Andrulis I.L. Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript. Hum Mutat. 14:1999;540-541.
7. Scholl T., Pyne M.T., Russo D., Ward B.E. BRCA1 IVS16+6T→C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor sits. Am J Med Genet. 85:1999;113-116.
8. Vega A., Campos B., Bressac-De-Paillerets B., Bond P.M., Janin N., Douglas F.S., Domenech M., Baena M., Pericay C., Alonso C., Baiget M., Diez O. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat. 17:2001;520-521.
9. Montagna M., Santacatterina M., Torri A., Menin C., Zullato D., Chieco-Bianchi L., D'Andrea E. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene. 18:1999;4160-4165.
10. Frischmeyer P.A., Dietz H.C. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 8:1999;1893-1900.
11. Montagna M., Agata S., De Nicolo A., Menin C., Sordi G., Chieco-Bianchi L., D'Andrea E. Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysis. Int J Cancer. 98:2002;732-736.
12. Montagna M., Santacatterina M., Corneo B., Menin C., Serova O., Lenoir G.M., Chieco-Bianchi L., D'Andrea E. Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. Cancer Res. 56:1996;5466-5469.
13. Marston N.J., Richards W.J., Hughes D., Bertwistle D., Marshall C.J., Ashworth A. Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals. Mol Cell Biol. 19:1999;4633-4642.