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The use of multi-gene panels for germline testing in breast cancer enables the estimation of cancer risk and guides risk-reducing management options for tested individuals and their family members. We performed an analysis in our clinical database to identify breast cancer patients undergoing genetic testing with positive reports. We reviewed positive results with respect to the different levels of information provided in the reports; risk estimation and management, cascade family testing, information from secondary findings and actionable information for treatment decision-making. A total of 415 positive test reports were identified with 57.1%, 18.1%, 10.8% and 13.5% of individuals having pathogenic/likely pathogenic variants in high (BRCA1, BRCA2, PALB2, PTEN, TP53), moderate (ATM, CHEK2, NBN), low (BARD1, BRIP1, CHEK2, MLH1, MSH2, MSH6, NF1, RAD51C) and with insufficient evidence for breast cancer risk genes (FANCA, FANCM, NBN, MRE11, PMS2, RAD50, RAD51B, XRCC2, MUTYH), respectively. 6.7% of individuals were double heterozygotes with two pathogenic variants. Germline findings in 92% of individuals are linked to evidence-based treatment information and receive risk estimates for predisposition to breast and/or other cancer types. The use of germline findings for treatment decision making expands the indication of genetic testing to include individuals that could benefit from targeted treatments.

Einleitung: Exosomen, d.h. Virus-große Lipidbläschen (30-120nm), werden von Körperzellen durch den Austausch von Nukleinsäuren und Proteinen zur Signalvermittlung genutzt. Exosomen von Tumorzellen inhibieren die gegen den Tumor-gerichtete Immunsuppression. In dieser Studie konnte[zum vollständigen Text gelangen Sie über die oben angegebene URL], Jahrestagung der Vereinigung Westdeutscher Hals-Nasen-Ohren-Ärzte

Table S4. Individuals with 2 Pathogenic/ Likely Pathogenic variants. (PDF 557 kb)

Figure S1. Mutation types for pathogenic/likely pathogenic variants and VUS among the 1197 individuals tested with a hereditary cancer panel A. Mutation types for the 161 unique pathogenic/likely pathogenic variants identified in 264 individuals. B. Mutation types for the 424 unique VUS identified in the 417 individuals. Figure S2. Panel testing outcomes and positive results for 768 individuals with personal history of Breast cancer, grouped by gene and gene category based on breast cancer risk (See Additional file 5: Table S4). A. Outcomes of panel testing for the 768 individuals with personal history of Breast cancer. B. Percentages of genes in individuals with positive findings. C. Percentages of gene categories in individuals with positive findings. Figure S3. Retrospective analysis of the genetic testing results of the 768 individuals with personal history of Breast cancer with 4 different testing scenarios; that of analyzing the BRCA1 and BRCA2 genes only and three additional gene panels that include other high-risk, moderate-risk and low-risk genes for breast cancer (See Additional file 6: Table S5). The percentage in each case corresponds to the number of individuals identified with VUS. Figure S4. Statistical analysis of Variants of Uncertain Significance (VUS). A. Number of VUS identified per individual B. Percentage of VUS identified in each gene C. VUS stratified by gene risk category. Figure S5. Details about VUS. A. Testing outcomes for individuals tested with a hereditary cancer panel. B. Classification of VUS to sub-categories. (PDF 1131 kb)

Table S1. Frequency of Pathogenic and Likely Pathogenic variants among genes. (PDF 539 kb)

Table S3. Large Genomic Rearrangements (LGRs). (PDF 402 kb)

Einleitung: Exosomen sind Mediatoren der interzellulären Kommunikation und können Immunantworten regulieren. Diese Studie vergleicht den Effekt von Exosomen von Kopf-Hals-Karzinom (HNC)-Patienten mit manifester Erkrankung (AD), Rezidiv (REC) und ohne erkennbare Tumorerkrankung nach erfolgter[zum vollständigen Text gelangen Sie über die oben angegebene URL], 88. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie