日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers

生殖系 MLH1 c.-42 C > T 是一种可能致病的变异,易导致低外显率/改良型林奇综合征表型,其特征是 MLH1 甲基化癌症。

Buchanan, Daniel D; Alvarez, Rocio; Mahmood, Khalid; Clendenning, Mark; Georgeson, Peter; Walker, Romy; Como, Julia; Preston, Susan G; Joseland, Sharelle; Mohammadsaeedi, Kimia; Aguirre, Francesca; Zhou, Lisa; Hazelett, Dennis J; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Macrae, Finlay A; Dwarte, Tanya M; Nixon, Dawn; Hitchins, Megan P; Joo, Jihoon E

Intratumoural pks(+)Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome

肿瘤内PKS阳性大肠杆菌与林奇综合征患者发生异时性结直肠癌和腺瘤的风险相关。

Chu, Yen Lin; Georgeson, Peter; Clendenning, Mark; Mahmood, Khalid; Walker, Romy; Como, Julia; Joseland, Sharelle; Preston, Susan G; Rice, Toni; Lynch, Brigid M; Milne, Roger L; Southey, Melissa C; Giles, Graham G; Phipps, Amanda I; Hopper, John L; Win, Aung K; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid; Jenkins, Mark A; Buchanan, Daniel D; Joo, Jihoon E

Intratumoral presence of the genotoxic gut bacteria pks(+) E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer

肿瘤内致病性肠道细菌 pks(+) 大肠杆菌、肠毒素性脆弱拟杆菌和具核梭杆菌的存在及其与结直肠癌临床病理及分子特征的关联

Joo, Jihoon E; Chu, Yen Lin; Georgeson, Peter; Walker, Romy; Mahmood, Khalid; Clendenning, Mark; Meyers, Aaron L; Como, Julia; Joseland, Sharelle; Preston, Susan G; Diepenhorst, Natalie; Toner, Julie; Ingle, Danielle J; Sherry, Norelle L; Metz, Andrew; Lynch, Brigid M; Milne, Roger L; Southey, Melissa C; Hopper, John L; Win, Aung Ko; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Jenkins, Mark A; Buchanan, Daniel D

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family

家族性X型结直肠癌家族中遗传的BRCA1和RNF43致病变异

Chan, James M; Clendenning, Mark; Joseland, Sharelle; Georgeson, Peter; Mahmood, Khalid; Joo, Jihoon E; Walker, Romy; Como, Julia; Preston, Susan; Chai, Shuyi Marci; Chu, Yen Lin; Meyers, Aaron L; Pope, Bernard J; Duggan, David; Fink, J Lynn; Macrae, Finlay A; Rosty, Christophe; Winship, Ingrid M; Jenkins, Mark A; Buchanan, Daniel D

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

DNA错配修复基因变异分类:评估体细胞突变和错配修复缺陷在结肠隐窝和子宫内膜腺体中的应用价值

Walker, Romy; Mahmood, Khalid; Como, Julia; Clendenning, Mark; Joo, Jihoon E; Georgeson, Peter; Joseland, Sharelle; Preston, Susan G; Pope, Bernard J; Chan, James M; Austin, Rachel; Bojadzieva, Jasmina; Campbell, Ainsley; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Ip, Emilia; Kirk, Judy; Mansour, Julia; Mar Fan, Helen; Nichols, Cassandra; Pachter, Nicholas; Ragunathan, Abiramy; Spigelman, Allan; Susman, Rachel; Christie, Michael; Jenkins, Mark A; Pai, Rish K; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid M; Buchanan, Daniel D

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers

利用液滴数字PCR和全基因组DNA甲基化谱分析结直肠癌,鉴定出具有低水平MLH1体细胞甲基化的原发性和继发性MLH1表观突变携带者

Joo, Jihoon E; Mahmood, Khalid; Walker, Romy; Georgeson, Peter; Candiloro, Ida; Clendenning, Mark; Como, Julia; Joseland, Sharelle; Preston, Susan; Graversen, Lise; Wilding, Mathilda; Field, Michael; Lemon, Michelle; Wakeling, Janette; Marfan, Helen; Susman, Rachel; Isbister, Joanne; Edwards, Emma; Bowman, Michelle; Kirk, Judy; Ip, Emilia; McKay, Lynne; Antill, Yoland; Hopper, John L; Boussioutas, Alex; Macrae, Finlay A; Dobrovic, Alexander; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D

Evaluating Multiple Next-Generation Sequencing-Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status

评估多种基于下一代测序的肿瘤特征以准确预测DNA错配修复状态

Walker, Romy; Georgeson, Peter; Mahmood, Khalid; Joo, Jihoon E; Makalic, Enes; Clendenning, Mark; Como, Julia; Preston, Susan; Joseland, Sharelle; Pope, Bernard J; Hutchinson, Ryan A; Kasem, Kais; Walsh, Michael D; Macrae, Finlay A; Win, Aung K; Hopper, John L; Mouradov, Dmitri; Gibbs, Peter; Sieber, Oliver M; O'Sullivan, Dylan E; Brenner, Darren R; Gallinger, Steven; Jenkins, Mark A; Rosty, Christophe; Winship, Ingrid M; Buchanan, Daniel D

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report

MSH6基因嵌合致病变异导致疑似林奇综合征患者发生MSH6缺陷型结直肠癌和子宫内膜癌:病例报告

Walker, Romy; Clendenning, Mark; Joo, Jihoon E; Xue, Jessie; Mahmood, Khalid; Georgeson, Peter; Como, Julia; Joseland, Sharelle; Preston, Susan G; Chan, James M; Jenkins, Mark A; Rosty, Christophe; Macrae, Finlay A; Di Palma, Stephanie; Campbell, Ainsley; Winship, Ingrid M; Buchanan, Daniel D

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study

体重指数、性别、非甾体类抗炎药、吸烟和饮酒与锯齿状息肉综合征患者的世界卫生组织标准和结直肠癌风险存在差异性关联:一项澳大利亚病例对照研究

Anthony, Emma; Reece, Jeanette C; Milanzi, Elasma; Joo, Jihoon E; Joseland, Sharelle; Clendenning, Mark; Whelan, Amanda; Parry, Susan; Arnold, Julie; Vijay, Varnika; Atkinson, Nathan; Hopper, John L; Win, Aung K; Jenkins, Mark A; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Buchanan, Daniel D

Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer

子宫内膜癌女性疑似林奇综合征诊断相关的心理社会和行为反应的异质性

Jonnagadla, Sowmya; Joseland, Sharelle L; Saya, Sibel; den Elzen, Nicole; Isbister, Joanne; Winship, Ingrid M; Buchanan, Daniel D