Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer

International Journal of Cancer

Volumn 78, Issue 5, 1998, Pages 581-586

  Santarosa, Manuela ^a   Viel, Alessandra ^a   Dolcetti, Riccardo ^a   Crivellari, Diana ^a   Magri, Maria Donatella ^a   Pizzichetta, Maria Antonietta ^a   Tibiletti, Maria Grazia ^b   Gallo, Angelo ^a   Tumolo, Salvatore ^a   Tin, Laura Del ^a   Boiocchi, Mauro ^a  

^a CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BINDING SITE; BREAST CANCER; GENE MUTATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MOLECULAR CLONING; OVARY CANCER; PRIORITY JOURNAL;

ADULT; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; HUMANS; ITALY; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031766882     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19981123)78:5<581::AID-IJC9>3.0.CO;2-G     Document Type: Article

References (29)

1. BREAST CANCER LINKAGE CONSORTIUM. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet, 349, 1505-1510 (1997).
2. CALIGO, M.A., GHIMENTI, C., CIPOLLINI, G., RICCI, S., BRUNETTI, I., MARCHETTI, V., OLSEN, R., NEUHAUSEN, S., SHATTUCK-EIDENS, D., CONTE, P.P., SKOLNICK, M.H. and BEVILACQUA, G., BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations. Oncogene, 13, 1483-1488 (1996).
3. CORNELIS, R.S., and 21 OTHERS, High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCA1-linked families. The Breast Cancer Linkage Consortium. Genes Chromosomes Cancer, 13, 203-210 (1995).
4. COUCH, F.J., DESHANO, M.L., BLACKWOOD, M.A., CALZONE, K., STOPFER, J., CAMPEAU, L., GANGULY, A., REBBECK, T. and WEBER, B.L., BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N. Engl. J. Med., 336, 1409-1415 (1997).
5. DE BENEDETTI, V.M., RADIOS, P., MONDINI, P., SPATTI, G., CONTI, A., ILLENI, M.T., CALICO, M.A., CIPOLLINI, G., BEVILAQUA, G., PILOTTI, S. and PIEROTTI, M.A., Screening for mutations in exon 11 of the BRCA1 gene in 70 Italian breast and ovarian cancer patients by protein truncation test. Oncogene, 13, 1353-1357 (1996).
6. EASTON, D.F., BISHOP, D.T., FORD, D., CROCKFORD, G.R and THE BREAST CANCER LINKAGE CONSORTIUM, Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Amer. J. hum. Genet., 52, 678-701 (1993).
7. EASTON, D.F., FORD, D., BISHOP, D.T. and THE BREAST CANCER LINKAGE CONSORTIUM, Breast and ovarian cancer incidence in BRCA1-mutation carriers. Amer. J. hum. Genet., 56, 265-271 (1995).
8. FRIEDMAN, L.S., OSTERMEYER, E.A., SZABO, C.I., DOWD, P., LYNCH. E.D., ROWELL, S.E. and KING, M.C., Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature (Genet,), 8, 399-404 (1994).
9. HAMANN, U., BRAUCH, H., GARVIN, A.M., BASTERT, G. and SCOTT, R.J., German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. Genes Chromosomes Cancer, 18, 126-132 (1997).
10. HOLT, J.T., THOMPSON, M.E., SZABO, C., ROBINSON-BENION, C., ARTEAGA, C.L., KING, M.C. and JENSEN, R.A., Growth retardation and tumour inhibition by BRCA1. Nature (Genet.), 12, 298-302 (1996).
11. JOHANNSSON, O.T., IDVALL, I., ANDERSON, C., BORG, A., BARKARDOTTIR, R.B., EGILSSON, V. and OLSSON, H., Tumour biological features of BRCA1- induced breast and ovarian cancer. Europ. J. Cancer, 33, 362-371 (1997).
12. LOHMANN, D.R., BRANDT, B., HOPPING, W., PASSARGE, E. and HORSTHEMKE, B., The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Amer. J. hum. Genet., 58, 940-949 (1996).
13. MIKI, Y. and 44 OTHERS, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71 (1994).
14. MONTAGNA, M., SANTACATTERINA, M., CORNEO, B., MENIN, C., SEROVA, O., LENOTR, G.M., CHIECO BIANCHI, L. and D'ANDREA, E., Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. Cancer Res., 56, 5466-5469 (1996).
15. PETRIJ-BOSCH, A. and 17 OTHERS, BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature (Genet.), 17, 341-345 (1997).
16. PUGET, N., TORCHARD, D., SEROVA SlNILNIKOVA, O.M., LYNCH, H.T., FEUNTEUN, J., LENOIR, G.M. and MAZOYER, S., A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res., 57, 828-831 (1997).
17. SCULLY, R., CHEN, J., OCHS, R.L., KEEGAN, K., HOEKSTRA, M., FEUNTEUN, J. and LIVINGSTON, D.M., Dynamic changes of BRCA1 subnuclear location, and phosphorylation state are initiated by DNA damage. Cell, 90, 425-435 (1997).
18. SHATTUCK-EIDENS, D. and 58 OTHERS, BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. J. Amer. med. Ass., 278, 1242-1250 (1997).
19. STRUEWING, J.P., HARTGE, P., WACHOLDER, S., BAKER, S.M., BERLIN, M., MCADAMS, M., TIMMERMAN, M.M., BRODY, L.C. and TUCKER, M.A., The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med., 336, 1401-1408 (1997).
20. THOMPSON, ME., JENSEN, R.A., OBERMILLER, P.S., PAGE, D.L. and HOLT, J.T., Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancerprogression. Nature (Genet.), 9, 444-450 (1995).
21. UPADHYAYA, M., SHEN, M., CHERRYSON, A., FARNHAM, J., MAYNARD, J., HUSON, S.M. and HARPER, P.S., Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum. mol. Genet., 1, 735-740 (1992).
22. VAN DER LUIJT, R.B., HOGERVORST, F.B.L., DEN DUNNEN, J.T., KHAN, P.M. and VAN OMMEN, G.B., PTT: protein truncation test. In: U. Landegren (ed.), Laboratory protocols for mutation detection, pp. 140-151, Oxford University Press, Oxford, UK (1996).
23. VAUGHN, J.P., CIRISANO, F.D., HUPER, G., BERCHUCK, A., FUTREAL, P.A., MARKS, J.R. and IGLEHART, J.D., Cell cycle control of BRCA2. Cancer Res., 56, 4590-4594 (1996).
24. WANG, H., SHAO, N., DING, Q.M., CUI, J., REDDY, E.S. and RAO, V.N., BRC A1 proteins are transported to the nucleus in the absence of serum and splice variants BRCA1a, BRCA1b are tyrosine phosphoproteins that associate with E2F, cyclins and cyclin dependent kinases. Oncogene, 15, 143-157 (1997).
25. WOOSTER, R. and 30 OTHERS, Localisation of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science, 265, 2088-2090 (1994)
26. 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. arid BAER, R., Identification of a RING protein that can interact in vivo with the BRCA1gene product. Nature (Genet.), 14, 430-440 (1996).
27. XU, C.F., BROWN, M.A., CHAMBERS, J.A., GRIFFITHS, B., NICOLAI H. and SOLOMON, E., Distinct transcription start sites generate two forms of BRCA1 mRNA. Hum. mol. Genet., 4, 2259-2264 (1995).
28. XU, C.F., CHAMBERS, J.A., NICOLAI, H., BROWN, M.A., HUJEIRAT, Y., MOHAMMED, S., HODGSON, S., KELSELL, D.P., SPURR, N.K., BlSHOP, D.T. and SOLOMON, E., Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chromosomes Cancer, 18, 102-110 (1997).
29. ZELADA-HEDMAN, M., WASTESON ARVER, B., CLARO, A., CHEN, J., WERELIUS, B., KOK, H., SANDELIN, K., HAKANSSON, S., ANDERSEN, T.I., BORG, A., BøRRESEN DALE, A.L. and LINDBLOM, A., A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region. Cancer Res., 57, 2474-2477 (1997).