Background Several recent studies in the Baltic region have found extended spectrum of pathogenic variants (PV) of the BRCA1/2 genes. The aim of current study is to analyze the spectrum of the BRCA1/2 PV in population of Latvia and to compare common PV between populations of the Baltic region. Methods We present a cohort of 9543 unrelated individuals including ones with cancer and unaffected individuals from population of Latvia, who were tested for three most common BRCA1 founder PV. In second line testing, 164 founder negative high-risk individuals were tested for PV of the BRCA1/2 using next generation sequencing (NGS). Local spectrum of the BRCA1/2 PV was compared with the Baltic region by performing a literature review. Results Founder PV c.5266dupC, c.4035delA or c.181 T > G was detected in 369/9543 (3.9%) cases. Other BRCA1/2 PV were found in 44/164 (26.8%) of NGS cases. Four recurrent BRCA1 variants c.5117G > A (p.Gly1706Glu), c.4675G > A (p.Glu1559Lys), c.5503C > T (p.Arg1835*) and c.1961delA (p.Lys654fs) were detected in 18/44 (41.0%), 5/44 (11.4%), 2/44 (4.5%) and 2/44 (4.5%) cases respectively. Additionally, 11 BRCA1 PV and six BRCA2 PV were each found in single family. Conclusions By combining three studies by our group of the same cohort in Latvia, frequency of the BRCA1/2 PV for unselected breast and ovarian cancer cases is 241/5060 (4.8%) and 162/1067 (15.2%) respectively. The frequency of three “historical” founder PV is up to 87.0% (369/424). Other non-founder PV contribute to at least 13.0% (55/424) and this proportion probably will rise by increasing numbers of the BRCA1/2 sequencing. In relative numbers, c.5117G > A is currently the third most frequent PV of the BRCA1 in population of Latvia, overcoming previously known third most common founder variant c.181 T > G. In addition to three BRCA1 founder PV, a total of five recurrent BRCA1 and two recurrent BRCA2 PV have been reported in population of Latvia so far. Many of the BRCA1/2 PV reported in Latvia are shared among other populations of the Baltic region.

Introduction Immediate breast reconstructions (IBR) have become an integral part of modern breast cancer management. However, in a small breast unit the spectrum of methods used for IBR could be limited, which could result in poorer results in some cases. The aim of the study is to evaluate the patient satisfaction and aesthetic outcome results in a breast unit where only implant-based IBR were performed. Material and methods During 2009–2016, 64 cases of implant-based IBR were performed in the university hospital. 55 patients completed the questionnaire and 38 underwent evaluation by a plastic surgeon. 33 skin-sparing and 22 nipple-sparing mastectomies were included. The study included 30 two-stage expander/implant and 25 direct-toimplant IBR cases. Results Overall satisfaction was reported by 89% of respondents. 93% were satisfied with appearance in clothes and 82% with appearance in a bra. There was a significant difference with satisfaction in nude appearance between groups with a removed (3%) and a spared nipple (46%). The plastic surgeon evaluated overall outcome as satisfactory in 61% and poor in 39%. Spearman coefficient showed a moderate negative correlation between body mass index (BMI) and aesthetic outcome ( p = 0.02), as well as BMI and volume differences between breasts ( p = 0.03). Patients evaluated their breast symmetry as satisfactory in 55%, and the plastic surgeon concluded the same in 55% of 38 cases. Conclusions Most of the patients were satisfied with the aesthetic outcome of IBR. Nipple preservation considerably improved satisfaction rates. However, implant-based IBR revealed suboptimal cosmetic results in the subset of cases with increased BMI and other IBR methods should be considered in those cases.

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