CLINICOPATHOLOGICAL PROFILE OF BREAST CANCER IN TWO ALBANIAN HOSPITALS, TIRANA AND FIER, AND A FAMILY CARRYING A BRCA1 EXON 11 DELETION

Abstract

Clinicopathological and genetic data on breast cancer in Albania are scarce. The aim of this study is to compare data from breast cancer patients of two Albanian hospitals, in Tirana and Fier, and describe a family in which multiplex ligation-dependent probe amplification detected a deletion in BRCA1 exon 11. A total of 417 patients, 252 from Tirana and 165 from Fier, were compared for age, family history, histology, stage, hormone receptor, HER2, Ki-67 and triple-negative status, with false discovery rate correction. Most characteristics were similar: ductal carcinoma accounted for 85.1 and 89.3% of tumors, a Ki-67 index ≥25% for 50.4 and 48.7%, and a family history of breast cancer for 17.5 and 19.7% of patients in Tirana and Fier, respectively. Estrogen receptor-negative tumors were less frequent in Fier (4.2 vs 13.9%; q = 0.032) and the stage distribution was shifted toward earlier disease (stage III-IV 12.7 vs 22.9%; q = 0.049); however, these differences should be interpreted with caution, because receptor data were missing for 26-29% and stage data for 19% of Fier patients. In the pooled sample, 6.7% of patients were diagnosed before age 45, 9.5% of tumors were triple-negative and 19.3% were diagnosed at stage III-IV. In the familial case, a heterozygous 40-nucleotide deletion in BRCA1 exon 11 was detected in all six women tested: a 68-year-old woman with early-onset breast cancer, her 58-year old sister with breast cancer, two first-degree relatives aged 28 and 33 years with breast cancer, and the two daughters of the 68-year-old woman, aged 32 and 35 years, without breast cancer. The exact variant could not be defined by this method and requires confirmation by sequencing. These data provide a comparative clinicopathological profile from two Albanian hospitals and suggest that BRCA1-associated hereditary breast cancer occurs in Albania.