Verena Steinke‐Lange
A5075854290- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- Genomics and Rare Diseases
- Colorectal Cancer Treatments and Studies
- BRCA gene mutations in cancer
- Multiple and Secondary Primary Cancers
- Genomic variations and chromosomal abnormalities
- Endometrial and Cervical Cancer Treatments
- Colorectal and Anal Carcinomas
- Gastric Cancer Management and Outcomes
- PI3K/AKT/mTOR signaling in cancer
- Ovarian cancer diagnosis and treatment
- Digestive system and related health
- RNA modifications and cancer
- DNA Repair Mechanisms
- Cancer-related gene regulation
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Clinical practice guidelines implementation
- Molecular Biology Techniques and Applications
- Cancer-related Molecular Pathways
- Lung Cancer Treatments and Mutations
- Neurofibromatosis and Schwannoma Cases
- Metastasis and carcinoma case studies
LMU Klinikum
2018-2025
Medical Genetics Center
2016-2025
ERN GUARD-Heart
2024
ERN GENTURIS
2024
Ludwig-Maximilians-Universität München
2018-2023
Rambam Health Care Campus
2023
Bayer (Germany)
2017-2020
MSD K.K. (Japan)
2018
Maastricht University
2018
Radboud University Nijmegen
2018
Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome result in different but imprecisely known cancer risks. This study aimed to provide age organ-specific risks according gene gender determine survival after cancer.We conducted an international, multicenter prospective observational using independent test validation cohorts of carriers class 4 or 5 variants. After the were merged providing 6350 participants 51,646 follow-up years.There 1808 prospectively observed...
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal endometrial cancer, although extracolonic cancers have been described within tumor spectrum. However, age-specific cumulative risk (penetrance) of these still poorly defined for PMS2-associated syndrome. Using a large data set from worldwide collaboration, our aim was determine accurate penetrance measures carriers heterozygous PMS2 variants.
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, neuroimaging.We used a multistep process, beginning Delphi method involving global disease experts subsequently non-neurofibromatosis clinical experts, patients, foundations/patient advocacy groups.We reached consensus on...
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk breast, thyroid, renal cancer, and possibly endometrial colorectal cancer melanoma. There no international consensus on surveillance in PHTS all current guidelines are based expert opinion. A comprehensive literature review was undertaken were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology,...
Abstract Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield patients with rare diseases. However, cost and efforts required for reanalysis prevent its routine implementation in research clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed One goals is implement innovative approaches reanalyse exomes genomes from thousands well-studied cases. raw genomic submitted through RD-Connect Genome-Phenome Analysis...
To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants the MMR genes PLSD and IMRC cohorts, which only former included mandatory colonoscopy surveillance for all participants.
Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance expert centres. This observation conflicts with the paradigm removal all visible polyps should prevent vast majority CRC path_MMR carriers, provided screening interval is sufficiently short and colonoscopic practice optimal.To inform debate, we examined, Prospective Lynch Syndrome Database (PLSD), whether...
Abstract Background Individuals with pathogenic germline variants in DNA mismatch repair (MMR) genes are at increased risk of developing colorectal, endometrial and other cancers (Lynch syndrome, LS). While previous studies have extensively described cancer risks LS, individuals from families without detectable MMR gene defects despite deficiency (Lynch-like LLS), fulfilling the Amsterdam-II criteria any signs (familial colorectal type X, FCCX) less well studied. The aim this prospective...
Analysis of circulating free DNA (cfDNA) is a promising tool for personalized management colorectal cancer (CRC) patients. Untargeted cfDNA analysis using whole-genome sequencing (WGS) does not need priori knowledge the patient´s mutation profile.Here we established LIquid biopsy Fragmentation, Epigenetic signature and Copy Number Alteration (LIFE-CNA) WGS with ~ 6× coverage detection tumor (ctDNA) in CRC patients as marker monitoring.We describe analytical validity clinical proof-of-concept...
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current are likely overestimated due to ascertainment bias. We aimed provide more accurate personalized risks.This was European, adult PHTS cohort study data from medical files, registries, and/or questionnaires. Cancer hazard ratios were assessed Kaplan-Meier Cox regression...
Variants of uncertain significance (VUS) are considered one the most significant impediments to translation genetic test results into precise clinical recommendations. The 2015 American College Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classification guidelines established a general framework assessment variants; yet, gene-specific specifications needed enable better variant reduce number VUS. process adaptations ACMG/AMP codes is led accompanied by ClinGen...
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
Abstract Background We previously reported that in pathogenic mismatch repair ( path_MMR ) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy undertaken more frequently than once every 3 years, and CRC stage interval since last were correlated. Methods The Prospective Lynch Syndrome Database (PLSD) records outcomes surveillance examined to determine survival after colon relation time previous pathological stage. Only variants scored by InSiGHT...
Abstract In our study, we evaluated the effectiveness of upper gastrointestinal (GI) endoscopy as an instrument for early gastric cancer (GC) detection in Lynch syndrome (LS) patients by analyzing data from registry German Consortium Familial Intestinal Cancer . a prospective, multicenter cohort 1128 out 2009 registered individuals with confirmed LS underwent 5176 GI endoscopies. Compliance was good since 77.6% endoscopies were completed within recommended interval 1 to 3 years. Forty‐nine...
Abstract Summary The first German interdisciplinary S3-guideline on the diagnosis, therapy and follow-up of patients with endometrial cancer was published in April 2018. Funded by Cancer Aid as part an Oncology Guidelines Program, lead coordinators guideline were Society Gynecology Obstetrics (DGGG) Gynecological Working Group (AGO) (DKG). Purpose Using evidence-based, risk-adapted to treat low-risk women avoids unnecessarily radical surgery non-useful adjuvant radiotherapy and/or...
Abstract Summary The S3-guideline on endometrial cancer, first published in April 2018, was reviewed its entirety between 2020 and January 2022 updated. review carried out at the request of German Cancer Aid as part Oncology Guidelines Program lead coordinators were Society for Gynecology Obstetrics (DGGG), Working Group (AGO) (DKG) (DKH). guideline update based a systematic search assessment literature 2016 2020. All statements, recommendations background texts either confirmed or amended....