Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome who had uterine and ovarian cancer.
Umegaki S et al.
International Cancer Conference Journal, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Genetic investigation of a Tunisian family with Lynch syndrome: a case report.
Abdelmaksoud-Dammak R et al.
Frontiers in Oncology, 2025
Clinical relevance of protein-truncating variants of germline DNA repair genes in prostate cancer.
Shao YJ et al.
Bmc Cancer, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
Mismatch repair gene germline mutations in patients with prostate cancer.
Fang B et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
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
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
The repertoire of germline variants in patients with early-onset rectal cancer.
Beltrami CM et al.
Cancer Communications (london, England), 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
New insights on familial colorectal cancer type X syndrome.
Garcia FAO et al.
Scientific Reports, 2022
Inherited Mutations in Chinese Men With Prostate Cancer.
Zhu Y et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2021
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
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
Hata C et al.
Journal of Human Genetics, 2020
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen B et al.
Aging, 2020
Unique Genomic Landscape of High-Grade Neuroendocrine Cervical Carcinoma: Implications for Rethinking Current Treatment Paradigms.
Eskander RN et al.
Jco Precision Oncology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
Wu B et al.
International Journal of Molecular Sciences, 2019
A new mutL homolog 1 c.1896+5G>A germline mutation detected in a Lynch syndrome-associated lung and gastric double primary cancer patient.
Chen X et al.
Molecular Genetics & Genomic Medicine, 2019
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Wang J et al.
Cancer Medicine, 2019
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard E et al.
International Journal of Cancer, 2019
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
Lin PC et al.
Scientific Reports, 2019
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu H et al.
Bmc Cancer, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
Naslavsky MS et al.
Human Mutation, 2017
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
Lin PH et al.
Oncotarget, 2016
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.
Pinto C et al.
Journal of Human Genetics, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
Valentin MD et al.
Familial Cancer, 2011