Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.

An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. The experts agreed that, with the increasing availability of high-throughput testing platforms and the registration of poly-ADP-ribose-polymerase inhibitors, the need for genetic counselling and testing will rapidly increase in the near future. Consequently, the already existing shortage of genetic counsellors is expected to worsen and to compromise the quality of care particularly in individuals and families with suspected or proven hereditary breast or ovarian cancer. Increasing educational efforts within the breast cancer caregiver community may alleviate this limitation by enabling all involved specialities to perform genetic counselling. In the therapeutic setting, for patients with a clinical suspicion of genetic susceptibility and if the results may have an immediate impact on the therapeutic strategy, the majority voted that BRCA1/2 testing should be performed after histological diagnosis of breast cancer, regardless of oestrogen receptor and human epidermal growth factor receptor 2 (HER2) status. Experts also agreed that, in the predictive and therapeutic setting, genetic testing should be limited to individuals with a personal or family history suggestive of a BRCA1/2 pathogenic variant and should also include high-risk actionable genes beyond BRCA1/2. Of high-risk actionable genes, all pathological variants (i.e. class IV and V) should be reported; class III variants of unknown significance, should be reported provided that the current lack of clinical utility of the variant is expressly stated. Genetic counselling should always address the possibility that already tested individuals might be re-contacted in case new information on a particular variant results in a re-classification.

Incarceration of Meckel's diverticulum in a left paraduodenal Treitz' hernia.

Meckel's diverticula incarcerated in a hernia were first described anecdotally by Littré, a French surgeon, in 1700. Meckel, a German anatomist and surgeon, explained the pathophysiology of this disease 100 years later. In addition, a congenital paraduodenal mesocolic hernia, known as a Treitz hernia, is a rare cause of small bowel obstruction. These hernias are caused by an abnormal rotation of the primitive midgut, resulting in a right or left paraduodenal hernia. We treated a patient presenting with pain and diagnosed extraluminal air in the abdomen after a computed tomography examination. We performed a laparotomy and found a combination of these two seldomly occurring congenital diseases, incarceration and perforation of Meckel's diverticulum in a left paraduodenal hernia. We performed a thorough review of the literature, and this report is the first to describe a patient with a combination of these two rare conditions. We considered the case regarding the variety of terminology as well as the treatment options of these conditions.