Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland. We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland. A BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %). The standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population.

Background: Many women with early-stage breast cancer are predicted to be at sufficiently low risk for recurrence that they may forego chemotherapy. Nevertheless, some low-risk women will experience a local recurrence, and for them the risk of death increases significantly thereafter. The utility of initiating chemotherapy at the time of local recurrence has not been adequately addressed. The purpose of this study is to identify, in a hospital-based series of patients with early-stage breast cancer who were not treated with chemotherapy, those factors which predict death post local recurrence. Methods: We identified 135 women who were diagnosed with early-stage breast cancer (node-negative, <5 cm) and who did not receive chemotherapy at diagnosis and who developed a local recurrence. They were diagnosed between 1987 and 2000 and treated at Women’s College Hospital. For each patient, we abstracted information on the initial cancer (age at diagnosis, tumour size, tumour grade, ER status, PR status, HER2 status, lympho-vascular invasion, type of surgery, use of radiotherapy, tamoxifen and chemotherapy), the time from initial diagnosis to local recurrence and treatment at recurrence. The Kaplan–Meier method was used to estimate the ten-year actuarial risk of breast cancer death post recurrence. A Cox proportional hazards model was used to estimate multivariate hazard ratios for the various factors. Results: Among the 135 women in the cohort, the mean time from initial diagnosis to local recurrence was 7.8 years (range: 0.3 to 22.6 years). A total of 38 of the 135 women (28.1%) died of breast cancer a mean of 5.3 years after experiencing the local recurrence (range: 0.3 to 17 years). The ten-year breast cancer survival post local recurrence was 71% and the 15-year survival was 65%. In a multivariate analysis, it was found that factors that were significantly associated with death after local recurrence were (1) PR-negative status, (2) young age at diagnosis (<40 years) and (3) time to local recurrence less than 2 years. Nine percent of women received chemotherapy at the time of local recurrence. Conclusions: For breast cancer patients with a low baseline risk of mortality, the risk of death after an isolated local recurrence is substantial. Systemic treatment at the time of local recurrence needs further study.

At present, women with ductal carcinoma in situ are counseled that they have a pre-malignant condition which carries the possibility of progression to a fully malignant breast cancer. However, in most cases, the treatment of DCIS resembles that of a small invasive breast cancer and this is a source of confusion to many. In order to properly evaluate the benefit of radiotherapy, mastectomy and contralateral mastectomy, it is necessary to consider the risks of ipsilateral invasive cancer and of contralateral breast cancer in women with DCIS and with small invasive breast cancer. Several registry-based studies indicate that the risks of ipsilateral and contralateral cancer are similar in the two conditions and therefore a similar approach to treatment is rational.