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1.
Appl Clin Genet ; 16: 205-213, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37965626

RESUMO

Introduction: Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, other oncogenetic centers have reported an increase in consultations. We conducted a retrospective review of the oncogenetic consultations at our center to evaluate the presence and the consequences of a potential "Angelina Jolie effect" and to characterize this patient population over a decade. Methods: All initial oncogenetic consultations between 2005 and 2015 were collected, using electronic records. Demographics, cancer type, testing, and mutation results, as well as consultation rates, were recorded. The yearly trends were analyzed using Joinpoint regression analysis (JPA). Results: In total, 823 patient cases were included, mostly women (84%), half of them with a positive personal cancer history. A hereditary breast and ovarian cancer (HBOC) risk was the main reason for consultation (72%). Moreover, 22% of patients had a previously detected familial mutation. Two-thirds underwent testing, which yielded a positive test result in 31% of the cases. According to JPA, the consultation rate increased throughout the decade, with a significant upward trend from 2013. Rates of testing and positive results remained stable over time. Most patients (86%) fulfilled the referral criteria of published guidelines. Discussion: At our center, we found retrospectively a disproportionate growth in the referral rate for HBOC cases compared to other oncological cases after the year 2013, but overall, no change in testing rates was detected.

2.
EJHaem ; 4(1): 258-261, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36819159

RESUMO

Due to relatively high nonrelapse mortality (NRM), allogeneic hematopoietic stem cell transplantation (allo-HSCT) in non-Hodgkin's lymphoma (NHL) remains the ultimate line of treatment but the only curable approach in a setting of relapse/refractory disease. Here, we conducted a retrospective, multicenter, registry-based analysis on patients who underwent allo-HSCT for NHL in Switzerland, over 30-year (1985-2020) period. The study included 301 allo-HSCTs performed for NHL patients in three University Hospitals of Switzerland (Zurich, Basel and Geneva) 09/1985 to 05/2020. We assessed in univariate and multivariable analysis the impact on survivals (overall survival [OS], relapse free survival [RFS], relapse incidence [RI], and non-treatment related mortality [NRM]). The maximum follow-up was 25 years with median follow-up for alive patients of 61 months. The median age at allo-HSCT was 51 years. Three- and -year OS was - 59.5% and 55.4%; 3- and 5-year PFS was 50% and 44%; 3- and 5-year NRM was 21.7% and 23.6%. RI at 3 and 5 years was 27.4% and 34.9%. In conclusion, our analysis of the entire Swiss experience of allo-HSCT in patients with NHL shows promising 5- and possibly 10-year OS and relatively acceptable NRM rates for such population, the majority being not in complete remission (CR) at the time of transplantation.

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