S. Holzapfel

发表

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

Peter Nürnberg, Per Hoffmann, Richard P Lifton, 2015, International journal of cancer.

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

M. Loeffler, C. Engel, H. Schackert, 2014, International journal of cancer.

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

G. Plotz, S. Aretz, I. Spier, 2019, Hereditary cancer in clinical practice.

No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.

M. Kloor, M. von Knebel Doeberitz, C. Strassburg, 2018, Gastroenterology.

Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes

P. Bork, T. Doerks, S. Moebus, 2018, International journal of cancer.

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

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, European journal of cancer.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

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

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2020, Genetics in Medicine.

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.

M. Kloor, M. von Knebel Doeberitz, A. Stenzinger, 2020, Gastroenterology.

Clinical characteristics and EGD surveillance in Lynch-syndrome patients with small bowel/duodenal carcinomas.

M. Kloor, C. Strassburg, M. Loeffler, 2018 .

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2020, Genetics in Medicine.

Decreased levels of histone H3K9me1 indicate poor prognosis in patients with renal cell carcinoma.

J. Ellinger, A. von Ruecker, S. C. Mueller, 2012, Anticancer research.

Prophylactic total gastrectomy in the management of hereditary tumor syndromes

C. Strassburg, H. Gevensleben, J. Nattermann, 2016, International Journal of Colorectal Disease.

Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer

T. Zander, M. Odenthal, M. Loeffler, 2015, Gut.

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, Journal of clinical medicine.

Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

M. Nöthen, H. Fröhlich, S. Moebus, 2015, International journal of cancer.

Genomic and transcriptomic heterogeneity of colorectal tumours arising in Lynch syndrome

Steve Hoffmann, Martin Peifer, Markus Loeffler, 2017, The Journal of pathology.

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

M. Nöthen, T. Becker, R. Lifton, 2016, Familial Cancer.

Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

M. Nöthen, G. Kristiansen, T. Becker, 2015, Journal of Medical Genetics.

Global histone acetylation levels: Prognostic relevance in patients with renal cell carcinoma

R. Büttner, J. Ellinger, S. Müller, 2010, Cancer science.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X

M. Speicher, W. Renner, A. Gerger, 2014, Nature Communications.

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

J. Trojan, I. Hinrichsen, G. Plotz, 2015, Carcinogenesis.

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019, Hereditary Cancer in Clinical Practice.

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

M. Kloor, M. von Knebel Doeberitz, C. Strassburg, 2020, BMC Cancer.

Aalborg Universitet Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis ; A prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019 .

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

M. Nöthen, G. Kristiansen, A. Tafazzoli, 2016, American journal of human genetics.

Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

R. Lifton, P. Hoffmann, P. Nürnberg, 2015, International journal of cancer.

Global histone acetylation levels: Prognostic relevance in patients with renal cell carcinoma

R. Büttner, J. Ellinger, S. Müller, 2010, Cancer science.