Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Isabel Spier; Xiaoyu Yin; Marcy Richardson; Marta Pineda; Andreas Laner; Deborah Ritter; Julie Boyle; Pilar Mur; Thomas V O Hansen; Xuemei  Shi; Khalid Mahmood; John-paul Plazzer; Elisabet Ognedal; Margareta Nordling; Susan M Farrington; Gou Yamamoto; Stephanie Baert-Desurmont; Alexandra Martins; Ester Borras; Carli Tops; Erica Webb; Victoria  Beshay; Maurizio Genuardi; Tina Pesaran; Gabriel Capellá; Sean V. Tavtigian; Andrew Latchford; Ian M Frayling; Sharon E. Plon; Marc  Greenblatt; Finlay Macrae; Stefan Aretz

doi:10.1016/j.gim.2023.100992

Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas V O Hansen, Xuemei Shi, Khalid Mahmood, John-paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M Farrington, Gou Yamamoto, Stephanie Baert-Desurmont, Alexandra Martins, Ester Borras, Carli TopsErica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellá, Sean V. Tavtigian, Andrew Latchford, Ian M Frayling, Sharon E. Plon, Marc Greenblatt, Finlay Macrae, Stefan Aretz

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Genetics in Medicine
Early online date	2 Oct 2023
DOIs	https://doi.org/10.1016/j.gim.2023.100992
Publication status	E-pub ahead of print - 2 Oct 2023

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Gene-specific ACMG_AMP classification criteria for germline APC variants_ recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer_Polyposis Variant Curation Expert Panel _finalFinal published version, 1.45 MBLicence: CC BY-NC-ND

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Spier, I., Yin, X., Richardson, M., Pineda, M., Laner, A., Ritter, D., Boyle, J., Mur, P., Hansen, T. V. O., Shi, X., Mahmood, K., Plazzer, J., Ognedal, E., Nordling, M., Farrington, S. M., Yamamoto, G., Baert-Desurmont, S., Martins, A., Borras, E., ... Aretz, S. (2023). Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genetics in Medicine. Advance online publication. https://doi.org/10.1016/j.gim.2023.100992

@article{f9b4a1b1f2e540858fbf6f3fff2f0e13,

title = "Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel",

author = "Isabel Spier and Xiaoyu Yin and Marcy Richardson and Marta Pineda and Andreas Laner and Deborah Ritter and Julie Boyle and Pilar Mur and Hansen, {Thomas V O} and Xuemei Shi and Khalid Mahmood and John-paul Plazzer and Elisabet Ognedal and Margareta Nordling and Farrington, {Susan M} and Gou Yamamoto and Stephanie Baert-Desurmont and Alexandra Martins and Ester Borras and Carli Tops and Erica Webb and Victoria Beshay and Maurizio Genuardi and Tina Pesaran and Gabriel Capell{\'a} and Tavtigian, {Sean V.} and Andrew Latchford and Frayling, {Ian M} and Plon, {Sharon E.} and Marc Greenblatt and Finlay Macrae and Stefan Aretz",

note = "Funding Information: This work was supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)- Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017-2021.” We also thank Mireia Men{\'e}ndez for her support in interpretation of the functional assays. This publication was supported in part by the National Human Genome Research Institute of the National Institutes of Health for the Baylor College of Medicine/Stanford University Clinical Genome Resource-2U24HG009649 and from the National Cancer Institute U24 Curation Panels through the U24CA258119. It also was supported in part by the Intramural Research Program of the National Library of Medicine, National Institutes of Health, and the Spanish Ministry of Science and Innovation, co-funded by FEDER funds—a way to build Europe—(grant PID2019-111254RB-I00), CIBERONC (CB16/12/00234), and the Government of Catalonia (2017SGR1282). We thank CERCA Programme/Generalitat de Catalunya for institutional support. Finally, this research was supported in part by the Cancer Research UK Programme Award DRCPGM 100012. The content is solely the responsibility of the authors and does not necessarily represents the official views of the National Institutes of Health. These funding sources had no involvement in the study design; the collection, analysis, or interpretation of data; the writing of the report; or the decision to submit the manuscript for publication. The corresponding author had full access to all study data and had final responsibility for the decision to submit the manuscript for publication. Conceptualization: I.S. X.Y. M.G. S.A. F.A.M. S.E.P.; Data Curation: I.S. X.Y. M.R. M.P. A.Laner, J.B. P.M. T.v.O.H. X.S. K.M. E.B. C.T. E.W. V.B.; Formal Analysis: I.S. X.Y. M.R. M.P. A.Laner, J.B. P.M. T.v.O.H. X.S. K.M.; Funding Acquisition: M.G. F.A.M. S.A.; Investigation: I.S. X.Y. M.R. M.P.; Methodology: I.S. X.Y. M.R. D.R. S.E.P.; Project Administration: I.S. X.Y. D.R. J.-P.P.; Resources: E.B. C.T. E.W. V.B. G.Y. S.B.-D.; Software: M.G. S.V.T.; Supervision: I.S. M.P. M.G. T.P. G.C. S.V.T. A.Laner, A.Latchford, I.M.F. S.E.P. M.G. F.A.M. S.A.; Validation: I.S. X.Y. M.R. A.L. M.G. S.A.; Visualization: I.S. X.Y. S.A.; Writing-original draft: X.Y. I.S. S.A.; Writing-review and editing: I.S. S.A. M.R. A.Laner, T.v.H.O. J.-P.P. E.O. M.N. S.M.F. A.M. M.G. S.V.T. G.C. A.Latchford, I.M.F. S.E.P. M.G. F.A.M. I.S. and X.Y. contributed equally as the first authors. This study was conducted in accordance with the guidelines of the Ethics Committee of the Medical Faculty of the University of Bonn and the 1975 Declaration of Helsinki. Participants of clinical genetic testing gave written informed consent for their data to be used for clinical research and genetic investigations according to local regulations. Funding Information: This work was supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)- Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017-2021.” We also thank Mireia Men{\'e}ndez for her support in interpretation of the functional assays. Funding Information: This publication was supported in part by the National Human Genome Research Institute of the National Institutes of Health for the Baylor College of Medicine/Stanford University Clinical Genome Resource-2U24HG009649 and from the National Cancer Institute U24 Curation Panel s through the U24CA258119. It also was supported in part by the Intramural Research Program of the National Library of Medicine, National Institutes of Health, and the Spanish Ministry of Science and Innovation, co-funded by FEDER funds—a way to build Europe—(grant PID2019-111254RB-I00), CIBERONC (CB16/12/00234), and the Government of Catalonia (2017SGR1282). We thank CERCA Programme/Generalitat de Catalunya for institutional support. Finally, this research was supported in part by the Cancer Research UK Programme Award DRCPGM 100012. Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = oct,

day = "2",

doi = "10.1016/j.gim.2023.100992",

language = "English",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

}

Spier, I, Yin, X, Richardson, M, Pineda, M, Laner, A, Ritter, D, Boyle, J, Mur, P, Hansen, TVO, Shi, X, Mahmood, K, Plazzer, J, Ognedal, E, Nordling, M, Farrington, SM, Yamamoto, G, Baert-Desurmont, S, Martins, A, Borras, E, Tops, C, Webb, E, Beshay, V, Genuardi, M, Pesaran, T, Capellá, G, Tavtigian, SV, Latchford, A, Frayling, IM, Plon, SE, Greenblatt, M, Macrae, F & Aretz, S 2023, 'Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel', Genetics in Medicine. https://doi.org/10.1016/j.gim.2023.100992

TY - JOUR

T1 - Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

AU - Spier, Isabel

AU - Yin, Xiaoyu

AU - Richardson, Marcy

AU - Pineda, Marta

AU - Laner, Andreas

AU - Ritter, Deborah

AU - Boyle, Julie

AU - Mur, Pilar

AU - Hansen, Thomas V O

AU - Shi, Xuemei

AU - Mahmood, Khalid

AU - Plazzer, John-paul

AU - Ognedal, Elisabet

AU - Nordling, Margareta

AU - Farrington, Susan M

AU - Yamamoto, Gou

AU - Baert-Desurmont, Stephanie

AU - Martins, Alexandra

AU - Borras, Ester

AU - Tops, Carli

AU - Webb, Erica

AU - Beshay, Victoria

AU - Genuardi, Maurizio

AU - Pesaran, Tina

AU - Capellá, Gabriel

AU - Tavtigian, Sean V.

AU - Latchford, Andrew

AU - Frayling, Ian M

AU - Plon, Sharon E.

AU - Greenblatt, Marc

AU - Macrae, Finlay

AU - Aretz, Stefan

N1 - Funding Information: This work was supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)- Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017-2021.” We also thank Mireia Menéndez for her support in interpretation of the functional assays. This publication was supported in part by the National Human Genome Research Institute of the National Institutes of Health for the Baylor College of Medicine/Stanford University Clinical Genome Resource-2U24HG009649 and from the National Cancer Institute U24 Curation Panels through the U24CA258119. It also was supported in part by the Intramural Research Program of the National Library of Medicine, National Institutes of Health, and the Spanish Ministry of Science and Innovation, co-funded by FEDER funds—a way to build Europe—(grant PID2019-111254RB-I00), CIBERONC (CB16/12/00234), and the Government of Catalonia (2017SGR1282). We thank CERCA Programme/Generalitat de Catalunya for institutional support. Finally, this research was supported in part by the Cancer Research UK Programme Award DRCPGM 100012. The content is solely the responsibility of the authors and does not necessarily represents the official views of the National Institutes of Health. These funding sources had no involvement in the study design; the collection, analysis, or interpretation of data; the writing of the report; or the decision to submit the manuscript for publication. The corresponding author had full access to all study data and had final responsibility for the decision to submit the manuscript for publication. Conceptualization: I.S. X.Y. M.G. S.A. F.A.M. S.E.P.; Data Curation: I.S. X.Y. M.R. M.P. A.Laner, J.B. P.M. T.v.O.H. X.S. K.M. E.B. C.T. E.W. V.B.; Formal Analysis: I.S. X.Y. M.R. M.P. A.Laner, J.B. P.M. T.v.O.H. X.S. K.M.; Funding Acquisition: M.G. F.A.M. S.A.; Investigation: I.S. X.Y. M.R. M.P.; Methodology: I.S. X.Y. M.R. D.R. S.E.P.; Project Administration: I.S. X.Y. D.R. J.-P.P.; Resources: E.B. C.T. E.W. V.B. G.Y. S.B.-D.; Software: M.G. S.V.T.; Supervision: I.S. M.P. M.G. T.P. G.C. S.V.T. A.Laner, A.Latchford, I.M.F. S.E.P. M.G. F.A.M. S.A.; Validation: I.S. X.Y. M.R. A.L. M.G. S.A.; Visualization: I.S. X.Y. S.A.; Writing-original draft: X.Y. I.S. S.A.; Writing-review and editing: I.S. S.A. M.R. A.Laner, T.v.H.O. J.-P.P. E.O. M.N. S.M.F. A.M. M.G. S.V.T. G.C. A.Latchford, I.M.F. S.E.P. M.G. F.A.M. I.S. and X.Y. contributed equally as the first authors. This study was conducted in accordance with the guidelines of the Ethics Committee of the Medical Faculty of the University of Bonn and the 1975 Declaration of Helsinki. Participants of clinical genetic testing gave written informed consent for their data to be used for clinical research and genetic investigations according to local regulations. Funding Information: This work was supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)- Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017-2021.” We also thank Mireia Menéndez for her support in interpretation of the functional assays. Funding Information: This publication was supported in part by the National Human Genome Research Institute of the National Institutes of Health for the Baylor College of Medicine/Stanford University Clinical Genome Resource-2U24HG009649 and from the National Cancer Institute U24 Curation Panel s through the U24CA258119. It also was supported in part by the Intramural Research Program of the National Library of Medicine, National Institutes of Health, and the Spanish Ministry of Science and Innovation, co-funded by FEDER funds—a way to build Europe—(grant PID2019-111254RB-I00), CIBERONC (CB16/12/00234), and the Government of Catalonia (2017SGR1282). We thank CERCA Programme/Generalitat de Catalunya for institutional support. Finally, this research was supported in part by the Cancer Research UK Programme Award DRCPGM 100012. Publisher Copyright: © 2023 The Authors

PY - 2023/10/2

Y1 - 2023/10/2

U2 - 10.1016/j.gim.2023.100992

DO - 10.1016/j.gim.2023.100992

M3 - Article

SN - 1098-3600

JO - Genetics in Medicine

JF - Genetics in Medicine

ER -