High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

We have screened 473 breast/ovarian cancer patients with family history, aiming to define the prevalence and enrich the spectrum of BRCA1/2 pathogenic mutations occurring in the Greek population. An overall mutation prevalence of 32% was observed. Six BRCA1 recurrent/founder mutations dominate the observed spectrum (58.5% of all mutations found). These include three mutations in exon 20 and three large genomic deletions. Of the 44 different deleterious mutations found in both genes, 16 are novel and reported here for the first time. Correlation with available histopathology data showed that 80% of BRCA1 carriers presented a triple-negative breast cancer phenotype while 82% of BRCA2 carriers had oestrogen receptor positive tumours. This study provides a comprehensive view of the frequency, type and distribution of BRCA1/2 mutations in the Greek population as well as an insight of the screening strategy of choice for patients of Greek origin. We conclude that the Greek population has a diverse mutation spectrum influenced by strong founder effects.

Solid variant of a pure intracystic papillary carcinoma of the breast: case report.

Intracystic papillary carcinoma (IPC) of the breast is an uncommon malignant breast neoplasm and usually occurs in advanced age. It is characterized by a more benign behavior and a subsequent higher survival rate. We describe such a case of a 58-year-old female, who displayed a gradually growing tumor of the right breast. The lesion was well circumscribed and had a hard consistency with a cystic appearance. Mammography, breast ultrasonography and fine needle aspiration cytology failed to obtain a definite diagnosis. Based on the preoperative clinical identification of right axillary lymphadenopathy, the patient eventually underwent segmental resection of the right breast and right axillary nodal dissection. As regards the histological findings, the neoplasm corresponded to a pure intracystic papillary carcinoma of the solid variant. IPC represents a breast tumor with papillary differentiation growing inside a cyst, and excisional biopsy is often necessary to confirm the disease. Careful pathological examination is essential, to exclude the presence of coexistent ductal carcinoma in situ or invasive carcinoma.