Breast cancer is one of the most common malignancies and the leading cause of death among women worldwide. About 20% of breast cancers are hereditary. Approximately 30% of the mutations have remained negative after testing BRCA1/2 even in families with a Mendelian inheritance pattern for breast cancer. Additional non-BRCA genes have been identified as predisposing for breast cancer. Multi gene panel testing tries to cover and explain the BRCA negative inherited breast cancer, improving efficiency, speed and costs of the breast cancer screening. We identified 23 studies reporting results from individuals who have undergone multi gene panel testing for hereditary breast cancer and noticed a prevalence of 1-12% of non-BRCA genes, but also a high level of variants of uncertain significance. A result with a high level of variants of uncertain significance is likely to be more costly than bring benefits, as well as increase the anxiety for patients. Regarding further development of multi gene panel testing, more research is required to establish both the optimal care of patients with cancer (specific treatments like PARP inhibitors) and the management of unaffected individuals (chemoprevention and/or prophylactic surgeries). Early detection in these patients as well as prophylactic measures will significantly increase the chance of survival. Therefore, multi gene panel testing is not yet ready to be used outside clear guidelines. In conclusion, studies on additional cohorts will be needed to better define the real prevalence, penetrance and the variants of these genes, as well as to describe clear evidence-based guidelines for these patients.

Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities. Over 100 genes have been reported to be involved in left-right patterning in model organisms, but only a few are likely to candidate for left-right asymmetry defects in humans. Left-right asymmetry disorders are genetically heterogeneous and have variable manifestations (from asymptomatic to serious clinical problems). The discovery of the right mechanism of left-right development will help explain the clinical complexity and may contribute to a therapy of these disorders.

The COVID-19 pandemic affected the healthcare system in our country and led non-COVID patients to postpone medical visits that were not urgent. The purpose of this study was to investigate the impact of the first year of the COVID-19 pandemic on the trends in melanoma diagnosis and to compare the pathological characteristics of melanoma patients before and during the pandemic. The number of primary cutaneous melanomas diagnosed each month between 1st March 2019 and 29th February 2020 (pre-COVID-19) and between 1st March 2020 and 28th February 2021 (COVID-19) in the North-Western Region of Romania (Cluj and Bihor counties) was determined. The pathological characteristics of melanomas diagnosed in the two intervals were compared. The number of melanoma diagnoses substantially decreased during the pandemic, with 66 (−19.3%) fewer cutaneous melanomas being diagnosed in the first year of the pandemic when compared with the previous year. The tumor thickness and mitotic rate were significantly higher in cases found during the COVID-19 pandemic. Our study suggests that COVID-19 has delayed diagnosis in patients with melanoma, leading to the detection of thicker melanomas that may increase morbidity and mortality. Further studies are needed to determine the consequences of this delay on outcomes.

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