BRCA1-related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics

International Journal of Cancer

Volumn 77, Issue 3, 1998, Pages 354-360

  Wagner, Teresa M U ^a,m   Möslinger, Regine A ^a   Muhr, Daniela ^a   Langbauer, Gudrun ^a   Hirtenlehner, Kora ^a   Concin, Hans ^b,g   Doeller, Walter ^b,h   Haid, Anton ^b,i   Lang, Alois Hermann ^b,j   Mayer, Peter ^b,k   Ropp, Erich ^b,l   Kubista, Ernst ^a,f   Amirimani, Benoosh ^a   Helbich, Thomas ^a   Becherer, Alexander ^a   Scheiner, Otto ^a   Breiteneder, Heimo ^a   Borg, Ake ^c   Devilee, Peter ^d   Oefner, Peter ^e   Zielinski, Christoph ^a,f   more..

^a UNIVERSITY OF VIENNA   (Austria)

^b Austrian Hered Breast/Ovarian CG   (Austria)

^c LUND UNIVERSITY   (Sweden)

^d LEIDEN UNIVERSITY   (Netherlands)

^e STANFORD UNIVERSITY   (United States)

^f LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^g Hospital Bregenz   (Austria)

^h Department of Surgery   (Austria)

ⁱ GENERAL HOSPITAL KLAGENFURT   (Austria)

^j University Hospital Salzburg   (Austria)

^k MEDICAL UNIVERSITY OF VIENNA   (Austria)

^l Feldkirch Hospital   (Austria)

^m Division of Senology   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; AUSTRIA; BREAST CANCER; CANCER RISK; CANCER SCREENING; CANCER SURVIVAL; FAMILIAL CANCER; FEMALE; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH RISK POPULATION; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MULTIGENE FAMILY; OVARY CANCER; PRIORITY JOURNAL;

ADULT; AUSTRIA; BRCA1 PROTEIN; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; CARCINOMA, LOBULAR; CARCINOMA, MEDULLARY; DNA TRANSPOSABLE ELEMENTS; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENES, BRCA1; HUMANS; LYMPHATIC METASTASIS; MIDDLE AGED; MUTATION; NEOPLASM INVASIVENESS; NEOPLASM STAGING; OVARIAN NEOPLASMS; POINT MUTATION; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; RECURRENCE; SEQUENCE DELETION; SURVIVAL RATE;

EID: 2642695719     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0215(19980729)77:3<354::AID-IJC8>3.0.CO;2-N     Document Type: Article

References (25)

1. BREAST CANCER LINKAGE CONSORTIUM, Pathology of familial breast cancer: differences between breast cancer in carriers of BRCA1 or BRCA2 mutations and sporadic cases, Lancet, 349, 1505-1510 (1997).
2. COUCH, F.J., WEBER, B.L. and CORE, B.C.I., Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1 ) gene. Hum. Mutation, 8, 8-18 (1996).
3. EASTON, D.F., FORD, D., BISHOP, D.T. and BREAST CANCER LINKAGE CONSORTIUM, Breast and ovarian cancer incidence in BRCA1-mutation carriers. Amer. J. Hum. Genet., 56, 265-271 (1995).
4. FRIEDMAN, L.S., SZABO, C.I., OSTERMEYER, E.A., DOWD, P., BUTLER, L., PARK, T., LEE, M.K., GOODE, E.L., ROWELL, S.E. and KING, M.-C., Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Amer. J. Hum. Genet., 57, 1284-1297 (1995).
5. GODWIN, A.K., VANDERVEER, L., SCHULTZ, D.C., LYNCH, H.A.T., ALTOMARE, D.A., BUETOW, K.H. and DALY, M., A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. Amer. J. Hum. Genet., 55, 666-677 (1994).
6. HAKANSSON, S., JOHANNSSON, O., JOHANSSON, U., SELLBERG, G., LOMAN, N., GERDES, A.-M., HOLMBERG, E., DAHL, N., PANDIS, N., KRISTOFFERSSON, U., OLSSON, H. and BORG, A., Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer. Amer. J. Hum. Genet., 60, 1068-1078 (1997).
7. HOGERVORST, F.B.L. and 14 OTHERS, Rapid detection of BRCA1 mutations by the protein truncation test. Nature (Genet.), 10, 208-212 (1995).
8. JOHANNSSON, O.T., IDVALL, I., ANDERSON, C., BORG, A., BARKARDOTTIR, R.B., EGILSSON, V. and OLSSON, H., Tumor biological features of BRCA1-induced breast and ovarian cancer. Europ. J. Cancer, 33, 362-371 (1997).
9. KAPLAN, E.L. and MEIER, P., Nonparametric estimation from incomplete observations. J. Amer. Statist. Assoc., 53, 457-481 (1958).
10. LIU, W., SMITH, D.I., RECHTZIGEL, K.J., THIBODEAU, S.N. and JAMES, C.D., Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucl. Acids Res., (1998) (In press).
11. MARCUS, J.N., WATSON, P., PAGE, D.L., NAROD, S.A., LENOIR, G.M., TONIN, P., LINDER-STEPHENSON, L., SALERNO, G., CONWAY, T.A. and LYNCH, H.T., Hereditary breast cancer. Cancer, 77, 697-709 (1996).
12. MIKI, Y. and 44 OTHERS, Strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266, 66-71 (1994).
13. NARESH, K.M., Breast cancer genetics. Lancet, 350, 365-366 (1997).
14. NEMOTO, T., VANA, J., BEDWANI, R.N., BAKER, H.W., MCGREGOR, F.H. and MURPHY, G.P., Management and survival of female breast cancer: results of a national survey by the American College of Surgeons. Cancer, 45, 2917-2924 (1980).
15. NEUHAUSEN, S.L. and 19 OTHERS, Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Amer. J. Hum. Genet., 58, 271-280 (1996).
16. OEFNER, P.J. and UNDERHILL, P.A., Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Amer. J. Hum. Genet., 57(Suppl), A266 (1995).
17. 2+ channel gene, CACNL1A4. Cell, 87, 543-552 (1996).
18. PEELEN, T. and 46 OTHERS, A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Amer. J. Hum. Genet., 60, 1041-1049 (1997).
19. PETRIJ-BOSCH, A. and 17 OTHERS, BRCA1 genomic delletions are major founder mutations in Dutch breast cancer patients. Nature (Genet.), 17, 341-345 (1997).
20. PORTER, D.E., COHEN, B.B., WALLACE, M.R., SMYTH, E., CHETTY, U., DIXON, J.M., STEEL, C.M. and CARTER, D.C., Breast cancer incidence, penetrance and survival in probable carriers of BRCA1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Brit. J. Surg., 81, 1512-1515 (1994).
21. SCULLY, R., CHEN, J., PLLULG, A., XIAO, Y., WEAVER, D., FEUNTEUN, J., ASHLEY, T. and LIVINGSTON, D.M., Association of BRCA1 with Rad651 in mitotic and meiotic cells. Cell, 88, 265-275 (1997).
22. STOPPA-LYONNET, D., and 12 OTHERS, BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Amer. J. Hum. Genet., 60, 1021-1030 (1997).
23. STRUEWING, J.P., ABELIOVICH, D., PERETZ, T., AVISHAI, N., KABACK, M.M., COLLINS, F.S. and BRODY, L.C., The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature (Genet.), 11, 198-200 (1995).
24. UNDERHILL, P.A., JIN, L., LIN, A.A., MEHDI, S.Q., JENKINS, T., VOLLRATH, D., DAVIS, R.W., CAVALLI-SFORZA, L.L. and OEFNER, P.J., Detection of numerous Y chromosome biallelic polymorphisms by denaturating high performance liquid Chromatography (DHPLC). Genome Res., 7, 996-1005 (1997).
25. WAGNER, T.M.U., MÖSLINGER, R., ZIELINSKI, C., SCHEINER, O. and BREITENEDER, H., New Austrian mutation in BRCA1 gene detected in 3 unrelated HBOC families. Lancet, 347, 1263 (1996).