Associated Papers
Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome.
Khandakar B et al.
Clinical Genetics, 2025
Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.
Palova H et al.
Npj Precision Oncology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Brand RE et al.
Familial Cancer, 2020
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Macháčková E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016
[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].
Ilenčíková D
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012
[Surgical prevention of breast carcinoma in patients with hereditary risk].
Dražan L et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012
Effective Immunotherapy of Glioblastoma in an Adolescent with Constitutional Mismatch Repair-Deficiency Syndrome.
Pavelka Z et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 0
Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.
Ji J et al.
Neuro-oncology Advances, 0