Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

Kyaw Ze Ya Maung; Paul J. Leo; Mahmoud Bassal; Debora A. Casolari; James X. Gray; Sarah C. Bray; Stephen Pederson; Deepak Singhal; Saumya E. Samaraweera; Tran Nguyen; Gökhan Cildir; Mhairi Marshall; Adam Ewing; Emma L. Duncan; Matthew A. Brown; Russell Saal; Vinay Tergaonkar; Luen Bik To; Paula Marlton; Devinder Gill; Ian Lewis; Andrew J. Deans; Anna L. Brown; Richard J. D'Andrea; Thomas J. Gonda

doi:10.1038/s41408-018-0090-7

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

Kyaw Ze Ya Maung, Paul J. Leo, Mahmoud Bassal, Debora A. Casolari, James X. Gray, Sarah C. Bray, Stephen Pederson, Deepak Singhal, Saumya E. Samaraweera, Tran Nguyen, Gökhan Cildir, Mhairi Marshall, Adam Ewing, Emma L. Duncan, Matthew A. Brown, Russell Saal, Vinay Tergaonkar, Luen Bik To, Paula Marlton, Devinder GillIan Lewis, Andrew J. Deans, Anna L. Brown, Richard J. D'Andrea^*, Thomas J. Gonda

^*Corresponding author for this work

Twin Research & Genetic Epidemiology

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

15 Citations (Scopus)

Original language	English
Article number	50
Journal	Blood Cancer Journal
Volume	8
Issue number	6
DOIs	https://doi.org/10.1038/s41408-018-0090-7
Publication status	Published - 1 Jun 2018

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Maung, K. Z. Y., Leo, P. J., Bassal, M., Casolari, D. A., Gray, J. X., Bray, S. C., Pederson, S., Singhal, D., Samaraweera, S. E., Nguyen, T., Cildir, G., Marshall, M., Ewing, A., Duncan, E. L., Brown, M. A., Saal, R., Tergaonkar, V., To, L. B., Marlton, P., ... Gonda, T. J. (2018). Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. Blood Cancer Journal, 8(6), Article 50. https://doi.org/10.1038/s41408-018-0090-7

@article{bf7e96f402a54eea8a4429e850d1e23e,

title = "Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia",

author = "Maung, {Kyaw Ze Ya} and Leo, {Paul J.} and Mahmoud Bassal and Casolari, {Debora A.} and Gray, {James X.} and Bray, {Sarah C.} and Stephen Pederson and Deepak Singhal and Samaraweera, {Saumya E.} and Tran Nguyen and G{\"o}khan Cildir and Mhairi Marshall and Adam Ewing and Duncan, {Emma L.} and Brown, {Matthew A.} and Russell Saal and Vinay Tergaonkar and To, {Luen Bik} and Paula Marlton and Devinder Gill and Ian Lewis and Deans, {Andrew J.} and Brown, {Anna L.} and D'Andrea, {Richard J.} and Gonda, {Thomas J.}",

note = "Funding Information: We would like to acknowledge the Leukemia Foundation of Australia for their support of the Australian Leukemia and Lymphoma Group (ALLG) tissue bank. The South Australian Cancer Research Biobank (SACRB) is supported by the Cancer Council SA Beat Cancer Project, Medvet Laboratories Pty Ltd and the Government of South Australia. We would also like to acknowledge the assistance from the Detmold Family Cytometry Facility, Hanson Institute, SA Pathology. The authors thank Brooke Gardiner and colleagues at UQ Centre for Clinical Genomics (UQ Diamantina Institute) for carrying out exome capture and sequencing. We also thank Megan Ellis (ALLG tissue bank) and Carolyn Butcher (SACRB) for invaluable assistance in identifying and preparing samples, Diana Iarossi, Michelle Perugini, Silke Danner and Sarah Moore for assistance with molecular and clinical annotation of AML samples, Crystal McGirr for general technical assistance and Charlotte Hodson for help with analysis of mutation effect on function. We would like to gratefully acknowledge the funding support from the Queen Elizabeth Hospital Hematology-Oncology Private Practice Fund; the Queensland Health Study, Educational and Research Trust Fund; the Royal Adelaide Hospital Contributing Hematologists{\textquoteright} Fund, and the National Health and Medical Research Council (Australia). K.Z.Y.M. is supported by a Queen Elizabeth Hospital Hematology-Oncology Research Award, J.X.G. was supported by a Fellowship from the Princess Alexandra Hospital and Queensland Health, and A.J.D. is supported by the Victorian Cancer Agency fellowship. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",

year = "2018",

month = jun,

day = "1",

doi = "10.1038/s41408-018-0090-7",

language = "English",

volume = "8",

journal = "Blood Cancer Journal",

issn = "2044-5385",

publisher = "Nature Publishing Group",

number = "6",

}

Maung, KZY, Leo, PJ, Bassal, M, Casolari, DA, Gray, JX, Bray, SC, Pederson, S, Singhal, D, Samaraweera, SE, Nguyen, T, Cildir, G, Marshall, M, Ewing, A, Duncan, EL , Brown, MA, Saal, R, Tergaonkar, V, To, LB, Marlton, P, Gill, D, Lewis, I, Deans, AJ, Brown, AL, D'Andrea, RJ & Gonda, TJ 2018, 'Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia', Blood Cancer Journal, vol. 8, no. 6, 50. https://doi.org/10.1038/s41408-018-0090-7

TY - JOUR

T1 - Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

AU - Maung, Kyaw Ze Ya

AU - Leo, Paul J.

AU - Bassal, Mahmoud

AU - Casolari, Debora A.

AU - Gray, James X.

AU - Bray, Sarah C.

AU - Pederson, Stephen

AU - Singhal, Deepak

AU - Samaraweera, Saumya E.

AU - Nguyen, Tran

AU - Cildir, Gökhan

AU - Marshall, Mhairi

AU - Ewing, Adam

AU - Duncan, Emma L.

AU - Brown, Matthew A.

AU - Saal, Russell

AU - Tergaonkar, Vinay

AU - To, Luen Bik

AU - Marlton, Paula

AU - Gill, Devinder

AU - Lewis, Ian

AU - Deans, Andrew J.

AU - Brown, Anna L.

AU - D'Andrea, Richard J.

AU - Gonda, Thomas J.

N1 - Funding Information: We would like to acknowledge the Leukemia Foundation of Australia for their support of the Australian Leukemia and Lymphoma Group (ALLG) tissue bank. The South Australian Cancer Research Biobank (SACRB) is supported by the Cancer Council SA Beat Cancer Project, Medvet Laboratories Pty Ltd and the Government of South Australia. We would also like to acknowledge the assistance from the Detmold Family Cytometry Facility, Hanson Institute, SA Pathology. The authors thank Brooke Gardiner and colleagues at UQ Centre for Clinical Genomics (UQ Diamantina Institute) for carrying out exome capture and sequencing. We also thank Megan Ellis (ALLG tissue bank) and Carolyn Butcher (SACRB) for invaluable assistance in identifying and preparing samples, Diana Iarossi, Michelle Perugini, Silke Danner and Sarah Moore for assistance with molecular and clinical annotation of AML samples, Crystal McGirr for general technical assistance and Charlotte Hodson for help with analysis of mutation effect on function. We would like to gratefully acknowledge the funding support from the Queen Elizabeth Hospital Hematology-Oncology Private Practice Fund; the Queensland Health Study, Educational and Research Trust Fund; the Royal Adelaide Hospital Contributing Hematologists’ Fund, and the National Health and Medical Research Council (Australia). K.Z.Y.M. is supported by a Queen Elizabeth Hospital Hematology-Oncology Research Award, J.X.G. was supported by a Fellowship from the Princess Alexandra Hospital and Queensland Health, and A.J.D. is supported by the Victorian Cancer Agency fellowship. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.

PY - 2018/6/1

Y1 - 2018/6/1

UR - http://www.scopus.com/inward/record.url?scp=85048727789&partnerID=8YFLogxK

U2 - 10.1038/s41408-018-0090-7

DO - 10.1038/s41408-018-0090-7

M3 - Letter

C2 - 29891941

AN - SCOPUS:85048727789

SN - 2044-5385

VL - 8

JO - Blood Cancer Journal

JF - Blood Cancer Journal

IS - 6

M1 - 50

ER -

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

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