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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

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Walpole, S, Pritchard, AL, Cebulla, CM, Pilarski, R, Stautberg, M, Davidorf, FH, de la Fouchardière, A, Cabaret, O, Golmard, L, Stoppa-Lyonnet, D, Garfield, E, Njauw, C-N, Cheung, M, Turunen, JA, Repo, P, Järvinen, R-S, van Doorn, R, Jager, MJ, Luyten, GPM, Marinkovic, M, Chau, C, Potrony, M, Höiom, V, Helgadottir, H, Pastorino, L, Bruno, W, Andreotti, V, Dalmasso, B, Ciccarese, G, Queirolo, P, Mastracci, L, Wadt, K, Kiilgaard, JF, Speicher, MR, van Poppelen, N, Kilic, E, Al-Jamal, RT, Dianzani, I, Betti, M, Bergmann, C, Santagata, S, Dahiya, S, Taibjee, S, Burke, J, Poplawski, N, O'Shea, SJ, Newton-Bishop, J, Adlard, J, Adams, DJ, Lane, A-M, Kim, I, Klebe, S, Racher, H, Harbour, JW, Nickerson, ML, Murali, R, Palmer, JM, Howlie, M, Symmons, J, Hamilton, H, Warrier, S, Glasson, W, Johansson, P, Robles-Espinoza, CD, Ossio, R, de Klein, A, Puig, S, Ghiorzo, P, Nielsen, M, Kivelä, TT, Tsao, H, Testa, JR, Gerami, P, Stern, M-H, Paillerets, BB, Abdel-Rahman, MH & Hayward, NK 2018, 'Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide', Journal of the National Cancer Institute, bind 110, nr. 12, s. 1328-1341. https://doi.org/10.1093/jnci/djy171

APA

Walpole, S., Pritchard, A. L., Cebulla, C. M., Pilarski, R., Stautberg, M., Davidorf, F. H., de la Fouchardière, A., Cabaret, O., Golmard, L., Stoppa-Lyonnet, D., Garfield, E., Njauw, C-N., Cheung, M., Turunen, J. A., Repo, P., Järvinen, R-S., van Doorn, R., Jager, M. J., Luyten, G. P. M., ... Hayward, N. K. (2018). Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. Journal of the National Cancer Institute, 110(12), 1328-1341. https://doi.org/10.1093/jnci/djy171

CBE

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw C-N, Cheung M, Turunen JA, Repo P, Järvinen R-S, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane A-M, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern M-H, Paillerets BB, Abdel-Rahman MH, Hayward NK. 2018. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. Journal of the National Cancer Institute. 110(12):1328-1341. https://doi.org/10.1093/jnci/djy171

MLA

Vancouver

Author

Walpole, Sebastian ; Pritchard, Antonia L ; Cebulla, Colleen M ; Pilarski, Robert ; Stautberg, Meredith ; Davidorf, Frederick H ; de la Fouchardière, Arnaud ; Cabaret, Odile ; Golmard, Lisa ; Stoppa-Lyonnet, Dominique ; Garfield, Erin ; Njauw, Ching-Ni ; Cheung, Mitchell ; Turunen, Joni A ; Repo, Pauliina ; Järvinen, Reetta-Stiina ; van Doorn, Remco ; Jager, Martine J ; Luyten, Gregorius P M ; Marinkovic, Marina ; Chau, Cindy ; Potrony, Miriam ; Höiom, Veronica ; Helgadottir, Hildur ; Pastorino, Lorenza ; Bruno, William ; Andreotti, Virginia ; Dalmasso, Bruna ; Ciccarese, Giulia ; Queirolo, Paola ; Mastracci, Luca ; Wadt, Karin ; Kiilgaard, Jens Folke ; Speicher, Michael R ; van Poppelen, Natasha ; Kilic, Emine ; Al-Jamal, Rana'a T ; Dianzani, Irma ; Betti, Marta ; Bergmann, Carsten ; Santagata, Sandro ; Dahiya, Sonika ; Taibjee, Saleem ; Burke, Jo ; Poplawski, Nicola ; O'Shea, Sally J ; Newton-Bishop, Julia ; Adlard, Julian ; Adams, David J ; Lane, Anne-Marie ; Kim, Ivana ; Klebe, Sonja ; Racher, Hilary ; Harbour, J William ; Nickerson, Michael L ; Murali, Rajmohan ; Palmer, Jane M ; Howlie, Madeleine ; Symmons, Judith ; Hamilton, Hayley ; Warrier, Sunil ; Glasson, William ; Johansson, Peter ; Robles-Espinoza, Carla Daniela ; Ossio, Raul ; de Klein, Annelies ; Puig, Susana ; Ghiorzo, Paola ; Nielsen, Maartje ; Kivelä, Tero T ; Tsao, Hensin ; Testa, Joseph R ; Gerami, Pedram ; Stern, Marc-Henri ; Paillerets, Brigitte Bressac-de ; Abdel-Rahman, Mohamed H ; Hayward, Nicholas K. / Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. I: Journal of the National Cancer Institute. 2018 ; Bind 110, Nr. 12. s. 1328-1341.

Bibtex

@article{6d16c843b3404561872e7eaeb6f389ac,
title = "Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide",
abstract = "Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.",
author = "Sebastian Walpole and Pritchard, {Antonia L} and Cebulla, {Colleen M} and Robert Pilarski and Meredith Stautberg and Davidorf, {Frederick H} and {de la Fouchardi{\`e}re}, Arnaud and Odile Cabaret and Lisa Golmard and Dominique Stoppa-Lyonnet and Erin Garfield and Ching-Ni Njauw and Mitchell Cheung and Turunen, {Joni A} and Pauliina Repo and Reetta-Stiina J{\"a}rvinen and {van Doorn}, Remco and Jager, {Martine J} and Luyten, {Gregorius P M} and Marina Marinkovic and Cindy Chau and Miriam Potrony and Veronica H{\"o}iom and Hildur Helgadottir and Lorenza Pastorino and William Bruno and Virginia Andreotti and Bruna Dalmasso and Giulia Ciccarese and Paola Queirolo and Luca Mastracci and Karin Wadt and Kiilgaard, {Jens Folke} and Speicher, {Michael R} and {van Poppelen}, Natasha and Emine Kilic and Al-Jamal, {Rana'a T} and Irma Dianzani and Marta Betti and Carsten Bergmann and Sandro Santagata and Sonika Dahiya and Saleem Taibjee and Jo Burke and Nicola Poplawski and O'Shea, {Sally J} and Julia Newton-Bishop and Julian Adlard and Adams, {David J} and Anne-Marie Lane and Ivana Kim and Sonja Klebe and Hilary Racher and Harbour, {J William} and Nickerson, {Michael L} and Rajmohan Murali and Palmer, {Jane M} and Madeleine Howlie and Judith Symmons and Hayley Hamilton and Sunil Warrier and William Glasson and Peter Johansson and Robles-Espinoza, {Carla Daniela} and Raul Ossio and {de Klein}, Annelies and Susana Puig and Paola Ghiorzo and Maartje Nielsen and Kivel{\"a}, {Tero T} and Hensin Tsao and Testa, {Joseph R} and Pedram Gerami and Marc-Henri Stern and Paillerets, {Brigitte Bressac-de} and Abdel-Rahman, {Mohamed H} and Hayward, {Nicholas K}",
year = "2018",
doi = "10.1093/jnci/djy171",
language = "English",
volume = "110",
pages = "1328--1341",
journal = "NCI Monographs",
issn = "1052-6773",
publisher = "Oxford University Press",
number = "12",

}

RIS

TY - JOUR

T1 - Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

AU - Walpole, Sebastian

AU - Pritchard, Antonia L

AU - Cebulla, Colleen M

AU - Pilarski, Robert

AU - Stautberg, Meredith

AU - Davidorf, Frederick H

AU - de la Fouchardière, Arnaud

AU - Cabaret, Odile

AU - Golmard, Lisa

AU - Stoppa-Lyonnet, Dominique

AU - Garfield, Erin

AU - Njauw, Ching-Ni

AU - Cheung, Mitchell

AU - Turunen, Joni A

AU - Repo, Pauliina

AU - Järvinen, Reetta-Stiina

AU - van Doorn, Remco

AU - Jager, Martine J

AU - Luyten, Gregorius P M

AU - Marinkovic, Marina

AU - Chau, Cindy

AU - Potrony, Miriam

AU - Höiom, Veronica

AU - Helgadottir, Hildur

AU - Pastorino, Lorenza

AU - Bruno, William

AU - Andreotti, Virginia

AU - Dalmasso, Bruna

AU - Ciccarese, Giulia

AU - Queirolo, Paola

AU - Mastracci, Luca

AU - Wadt, Karin

AU - Kiilgaard, Jens Folke

AU - Speicher, Michael R

AU - van Poppelen, Natasha

AU - Kilic, Emine

AU - Al-Jamal, Rana'a T

AU - Dianzani, Irma

AU - Betti, Marta

AU - Bergmann, Carsten

AU - Santagata, Sandro

AU - Dahiya, Sonika

AU - Taibjee, Saleem

AU - Burke, Jo

AU - Poplawski, Nicola

AU - O'Shea, Sally J

AU - Newton-Bishop, Julia

AU - Adlard, Julian

AU - Adams, David J

AU - Lane, Anne-Marie

AU - Kim, Ivana

AU - Klebe, Sonja

AU - Racher, Hilary

AU - Harbour, J William

AU - Nickerson, Michael L

AU - Murali, Rajmohan

AU - Palmer, Jane M

AU - Howlie, Madeleine

AU - Symmons, Judith

AU - Hamilton, Hayley

AU - Warrier, Sunil

AU - Glasson, William

AU - Johansson, Peter

AU - Robles-Espinoza, Carla Daniela

AU - Ossio, Raul

AU - de Klein, Annelies

AU - Puig, Susana

AU - Ghiorzo, Paola

AU - Nielsen, Maartje

AU - Kivelä, Tero T

AU - Tsao, Hensin

AU - Testa, Joseph R

AU - Gerami, Pedram

AU - Stern, Marc-Henri

AU - Paillerets, Brigitte Bressac-de

AU - Abdel-Rahman, Mohamed H

AU - Hayward, Nicholas K

PY - 2018

Y1 - 2018

N2 - Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.

AB - Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors.Methods: We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families worldwide to better characterize the genotypes and phenotypes associated with the BAP1-TPDS. Tumor spectrum and ages of onset were compared between missense and null variants. All statistical tests were two-sided.Results: The 181 families carried 140 unique BAP1 germline variants. The collated data confirmed the core tumor spectrum associated with the BAP1-TPDS and showed that some families carrying missense variants can exhibit this phenotype. A variety of noncore BAP1-TPDS -associated tumors were found in families of variant carriers. Median ages of onset of core tumor types were lower in null than missense variant carriers for all tumors combined (P < .001), mesothelioma (P < .001), cutaneous melanoma (P < .001), and nonmelanoma skin cancer (P < .001).Conclusions: This analysis substantially increases the number of pathogenic BAP1 germline variants and refines the phenotype. It highlights the need for a curated registry of germline variant carriers for proper assessment of the clinical phenotype of the BAP1-TPDS and pathogenicity of new variants, thus guiding management of patients and informing areas requiring further research.

U2 - 10.1093/jnci/djy171

DO - 10.1093/jnci/djy171

M3 - Journal article

C2 - 30517737

VL - 110

SP - 1328

EP - 1341

JO - NCI Monographs

JF - NCI Monographs

SN - 1052-6773

IS - 12

ER -

ID: 56212476