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A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.
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.
Affiliation
  • Walker R; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia. romy.walker@unimelb.edu.au.
  • Clendenning M; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia. romy.walker@unimelb.edu.au.
  • Joo JE; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Xue J; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Georgeson P; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Como J; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Joseland S; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Preston SG; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Chan JM; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Jenkins MA; Melbourne Bioinformatics, The University of Melbourne, Melbourne, Parkville, VIC, 3010, Australia.
  • Rosty C; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Macrae FA; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Di Palma S; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Campbell A; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Winship IM; Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, 305 Grattan Street, Parkville, VIC, 3010, Australia.
  • Buchanan DD; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Parkville, VIC, 3010, Australia.
Fam Cancer ; 22(4): 423-428, 2023 10.
Article in En | MEDLINE | ID: mdl-37318702
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Endometrial Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Fam Cancer Journal subject: NEOPLASIAS Year: 2023 Type: Article Affiliation country: Australia
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Colorectal Neoplasms, Hereditary Nonpolyposis / Endometrial Neoplasms Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Fam Cancer Journal subject: NEOPLASIAS Year: 2023 Type: Article Affiliation country: Australia