A deleterious BRCA1 mutation in a young Pakistani woman with metaplastic breast carcinoma

Pathology Research and Practice

Volumn 207, Issue 9, 2011, Pages

  Rashid, Muhammad U ^a,b,c   Shah, Mazher A ^d   Azhar, Rafay ^d   Syed, Aamir A ^d   Amin, Asim ^e   Hamann, Ute ^b  

^a SHAUKAT KHANUM MEMORIAL CANCER HOSPITAL AND RESEARCH CENTRE   (Pakistan)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^d SKMCH and RC ^*  (Pakistan)

^e CAROLINAS MEDICAL CENTER   (United States)

Author keywords

BRCA1; Immunohistochemistry; Metaplastic breast carcinoma

Indexed keywords

CYCLIN E; CYCLOPHOSPHAMIDE; CYTOKERATIN 5; CYTOKERATIN 6; DOXORUBICIN; EPIDERMAL GROWTH FACTOR RECEPTOR; KI 67 ANTIGEN; PROTEIN BCL 2; PROTEIN P53;

ADULT; ARTICLE; BREAST BIOPSY; BREAST CARCINOMA; BREAST EXAMINATION; CANCER ADJUVANT THERAPY; CANCER GRADING; CANCER RADIOTHERAPY; CANCER STAGING; CASE REPORT; ECHOGRAPHY; FEMALE; GENE DELETION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; LYMPH NODE DISSECTION; MAMMOGRAPHY; MASTECTOMY; METASTASIS; MULTIPLE CYCLE TREATMENT; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONCOGENE; PAKISTAN; PROTEIN EXPRESSION; THORAX RADIOGRAPHY; TRIPLE NEGATIVE BREAST CANCER; TUMOR VOLUME;

BRCA1 PROTEIN; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; COMBINED MODALITY THERAPY; DISEASE-FREE SURVIVAL; FEMALE; GERM-LINE MUTATION; HUMANS; MASTECTOMY, MODIFIED RADICAL; METAPLASIA; SARCOMA; TREATMENT OUTCOME; TUMOR MARKERS, BIOLOGICAL;

EID: 80054008195     PISSN: 03440338     EISSN: 16180631     Source Type: Journal    
DOI: 10.1016/j.prp.2011.05.011     Document Type: Article

References (21)

1. Schnitt S.J., Guidi A.J. Pathology of invasive breast cancer. Diseases of the Breast 2000, 440-443. Lippincott, Williams and Wilkins, Philadelphia. second ed. J.R. Harris, M.E. Lippman, M. Morrow, C.K. Osborne (Eds.).
2. Rashid M.U., Zaidi A., Torres D., et al. Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int. J. Cancer 2006, 119:2832-2839.
3. Breuer A., Kandel M., Fisseler-Eckhoff A., et al. BRCA1 germline mutation in a woman with metaplastic squamous cell breast cancer. Onkologie 2007, 30:316-318.
4. Suspitsin E.N., Sokolenko A.P., Voskresenskiy D.A., et al. Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier. Breast Cancer 2009, April. (Epub ahead of print).
5. Noël J.C., Buxant F., Engohan-Aloghe C. Low-grade adenosquamous carcinoma of the breast - a case report with a BRCA1 germline mutation. Pathol. Res. Pract. 2010, 206(7):511-513.
6. Turner N.C., Reis-Filho J.S., Russell A.M., et al. BRCA1 dysfunction in sporadic basal-like breast cancer. Oncogene 2007, 26(14):2126-2132.
7. Pezzi C.M., Patel-Parekh L., Cole K., et al. Characteristics and treatment of metaplastic breast cancer: analysis of 892 cases from the National Cancer Data Base. Ann. Surg. Oncol. 2007, 14:166-1673.
8. Lakhani S.R., Reis-Filho J.S., Fulford L., et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin. Cancer Res. 2005, 11:5175-5180.
9. Lakhani S.R., van de Vijver M.J., Jacquemier J., et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin. Oncol. 2002, 20:2310-2318.
10. Palacios J., Honrado E., Osorio A., et al. Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers. Clin. Cancer Res. 2003, 9:3606-3614.
11. Robson M., Rajan P., Rosen P.P., et al. BRCA-associated breast cancer: absence of a characteristic immunophenotype. Cancer Res. 1998, 58:1839-1842.
12. Abeliovich D., Kaduri L., Lerer I., et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am. J. Hum. Genet. 1997, 60:505-514.
13. Bar-Sade R.B., Kruglikova A., Modan B., et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum. Mol. Genet. 1998, 7:801-805.
14. Diez O., Osorio A., Robledo M., et al. Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br. J. Cancer 1999, 79:1302-1303.
15. Neuhausen S.L., Mazoyer S., Friedman L., et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am. J. Hum. Genet. 1996, 58:271-280.
16. Byrski T., Gronwald J., Huzarski T., et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J. Clin. Oncol. 2010, 28(3):375-379.
17. Kennedy R.D., Quinn J.E., Mullan P.B., et al. The role of BRCA1 in the cellular response to chemotherapy. J. Natl. Cancer Inst. 2004, 96:1659-1668.
18. Tutt A., Robson M., Garber J.E., et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet 2010, 376:235-244.
19. Leibl S., Moinfar F. Metaplastic breast carcinomas are negative for Her-2 but frequently express EGFR (Her-1): potential relevance to adjuvant treatment with EGFR tyrosine kinase inhibitors?. J. Clin. Pathol. 2005, 58:700-704.
20. Rahman M., Pumphrey J.G., Lipkowitz S. The TRAIL to targeted therapy of breast cancer. Adv. Cancer Res. 2009, 103:43-73.
21. Hennessy B.T., Gonzalez-Angulo A.M., Stemke-Hale K., et al. Characterization of a naturally occurring breast cancer subset enriched in epithelial-to-mesenchymal transition and stem cell characteristics. Cancer Res. 2009, 69:4116-4124.