OnkoRiskNET: a multicenter, interdisciplinary, telemedicine-based model to improve care for patients with a genetic tumor risk syndrome.

Background: Genetic tumor risk syndromes are responsible for at least five to ten percent of the 4 million cases of cancer diagnosed in Europe every year. Currently, the care of oncological patients suffers from a lack of specialists in medical genetics and also a lack of access to genetic care in rural areas and structured care pathways between oncologists and medical geneticists. As a result, genetic tumor risk syndromes are underdiagnosed with potentially fatal consequences for patients and their families.

Career satisfaction of German human genetics residents.

Objectives: The aim of this survey was to investigate the career satisfaction of human genetics residents in Germany and to analyse the influence of intrinsic and extrinsic factors.

Methods: We developed an online survey for the evaluation of a broad range of factors concerning the situation of human genetics residents in Germany using validated questionnaires and adding human genetics specific items to them. Human genetics residents working at institutions with an authorization for specialist training were asked to participate in the online survey.

Telemedicine - chances and challenges for medical genetics in Germany.

Telemedicine has been in practical use for many years, mostly within the context of model projects. The current Covid-19 pandemic has accelerated the process of implementing telemedicine in standard care. Numerous regulations, as well as complex reimbursement structures play a role in the application of telemedicine in medical genetics in Germany.

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Purpose: This study aimed to report the uptake of hysterectomy and/or bilateral salpingo-oophorectomy (BSO) to prevent gynaecological cancers (risk-reducing surgery [RRS]) in carriers of pathogenic MMR (path_MMR) variants.

Methods: The Prospective Lynch Syndrome Database (PLSD) was used to investigate RRS by a cross-sectional study in 2292 female path_MMR carriers aged 30-69 years.

Results: Overall, 144, 79, and 517 carriers underwent risk-reducing hysterectomy, BSO, or both combined, respectively.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Purpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path_MMR) variants.

Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages.

Results: Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1, path_MSH2, path_MSH6, and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively.

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

Purpose: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone replacement therapy (HRT) in women with Lynch syndrome.

Methods: We conducted a survey in 31 contributing centers from the Prospective Lynch Syndrome Database (PLSD), which incorporates 18 countries worldwide. The survey covered local policies for risk-reducing hysterectomy and BSO in Lynch syndrome, the timing when these measures are offered, the involvement of stakeholders and advice regarding HRT.

[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients].

Introduction:  Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome and accounts for ~3 % of all CRCs. This autosomal dominant disorder is caused by germline mutations in DNA mismatch repair genes (, and ). One in 300 individuals of the general population are considered to be mutation carriers (300 000 individuals/Germany).