Application of multiplex PCR with histopathologic features for detection of familial breast cancer in formalin-fixed, paraffin-embedded histologic specimens

Rassi H., Houshmand M., Hashemi M., Majidzadeh K., Hosseini Akbari M.H., Shafa Shariat Panahi M.

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Breast cancer is the most common malignancy among females in the world. Age and familial history are the major risk factors for the development of this disease in Iran. Mutations of BRCA1 and BRCA2 genes are associated with a greatly increased risk for development of familial breast cancer. Frequency of BRCA mutations was identified in familial breast cancers (FBC) and non-familial breast cancers (NFBC) by molecular genetics, morphological and Immunohistochemical methods. Thirty forth formalin-fixed, paraffin-embedded breast tissue tumors were analyzed from 16 patients with FBC and 18 patients with NFBC. Three 5382insC mutations detected by multiplex PCR in 16 familial breast cancers. Immunohistochemical method was used to detect estrogen receptor (ER) and progesterona receptor (PR) and TP53. Comparison of ER, PR and TP53 exhibited high difference (P < 0.0001) in familial breast cancers and non-familial breast cancers. Our results demonstrated that 5382insC mutation, ER, PR, TP53, mitotic activity, polymorphism, necrosis and tubules can serve as the major risk factors for the development of FBC.

Key words: Breast cancer, BRCA1 and BRCA2 genes, archival breast cancer material, 5382insC mutation, Multiplex PCR, Retrospective clinical studies

Tsitologiya i Genetika 2008, vol. 42, no. 2, pp. 55-62

• National Medical Academy, Kiev, Ukraine
• National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
• Khatam Hospital, Tehran
• Baghiatollah Hospital, Tehran
• Iranian breast cancer center, Tehran

E-mail: rassi nrcgeb.ac.ir

Rassi H., Houshmand M., Hashemi M., Majidzadeh K., Hosseini Akbari M.H., Shafa Shariat Panahi M. Application of multiplex PCR with histopathologic features for detection of familial breast cancer in formalin-fixed, paraffin-embedded histologic specimens, Tsitol Genet., 2008, vol. 42, no. 2, pp. 55-62.