Associated Papers
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.
Franco PI et al.
Jco Global Oncology, 2024
Comprehensive molecular assessment of mismatch repair deficiency in Lynch associated ovarian cancers using next generation sequencing panel.
Kim SR et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.
Basel-Salmon L et al.
Genetics in Medicine Open, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.
Schwartz CJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.
Kim SR et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations.
Sa JK et al.
International Journal of Cancer, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Germ-line mutations in mismatch repair genes associated with prostate cancer.
Grindedal EM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009
Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers.
Suchy J et al.
Clinical Genetics, 2006