Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast

Cancer Genetics and Cytogenetics

Volumn 176, Issue 1, 2007, Pages 76-79

  Rhiem, Kerstin ^a   Flucke, Uta ^b   Engel, Christoph ^c   Wappenschmidt, Barbara ^a   Reinecke Lüthge, Axel ^d   Büttner, Reinhard ^b   Schmutzler, Rita Katharina ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d City Hospital Wolfsburg   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ADULT; ARTICLE; BREAST TUMOR; CANCER PATIENT; CANCER SURGERY; CASE REPORT; CYSTOSARCOMA PHYLLOIDES; DATA BASE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; MISSENSE MUTATION; MUTANT; PRIORITY JOURNAL; RISK FACTOR;

ADULT; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GERM-LINE MUTATION; HUMANS; PEDIGREE; PHYLLODES TUMOR;

PHYLLODES;

EID: 34250217042     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2007.03.006     Document Type: Article

References (12)

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 (1994) 1505-1510
2. Foulkes W.D., Stefansson I.M., Chappuis P.O., Bégin L.R., Goffin J.R., Wong N., Trudel M., and Akslen L.A. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95 (2003) 1482-1485
3. Lakhani S.R., van de Vijver M.J., Jaquemier J., Anderson T.J., Osin P.P., McGuffog L., and Easton D. The pathology of familial breast cancer: predictive value or immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20 (2002) 2310-2318
4. German Consortium for Hereditary Breast and Ovarian Cancer. Comprehensive analysis of 989 patients with breast and ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97 (2002) 472-480
5. Williams R.S., Chasman D.I., Hau D.D., Hui B., Lau A.Y., and Glover J.N. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem 278 (2003) 53007-53016
6. Worley T., Vallon-Christersson J., Billack B., Borg A., and Monteiro A.N.A. A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein. Cancer Biol Ther 5 (2002) 497-501
7. 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., and Monteiro A.N. Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Human Mol Genet 10 (2001) 353-360
8. Carvalho M.A., Marsillac S.M., Karchin R., Manoukian S., Grist S., Swaby R.F., Urmenyi T.P., Rondinelli E., Silva R., Gayol L., Baumbach L., Sutphen R., Pickard-Brzosowicz J.L., Nathanson K.L., Sali A., Goldgar D., Couch F.J., Radice P., and Monteiro A.N. Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res 67 (2007) 1494-1501
9. Schmutzler R.K., Rhiem K., Breuer P., Wardelmann E., Lehnert M., Coburger S., and Wappenschmidt B. Outcome of a structured surveillance programme in women with a familial predisposition for breast cancer. Eur J Cancer Prev 15 (2006) 483-489
10. Bellocq J.P., and Magro G. Fibroepithelial tumors. In: Tavassoli F.A., and Devilee P. (Eds). World Health Organization Classification of Tumors. Pathology and Genetics of Tumors of the Breast and Female Genital Organs (2003), IARC Press, Lyon, France 100-103
11. Tsai W.C., Jin J.S., Yu J.C., and Sheu L.F. CD10 actin and vimentin expression in breast phyllodes tumors correlates with tumor grades of the WHO grading system. Int J Surg Pathol 14 (2006) 127-131
12. Khan S.A., and Badve S. Phyllodes tumors of the breast. Curr Treat Options Oncol 2 (2001) 139-147