Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article

Jihoon E. Joo; James G. Dowty; Roger L. Milne; Ee Ming Wong; Pierre Antoine Dugué; Dallas English; John L. Hopper; David E. Goldgar; Graham G. Giles; Melissa C. Southey; Adrienne Sexton; Alice Christian; Alison Trainer; Allan Spigelman; Andrew Fellows; Andrew Shelling; Anna De Fazio; Anneke Blackburn; Ashley Crook; Bettina Meiser; Briony Patterson; Christine Clarke; Christobel Saunders; Clare Hunt; Clare Scott; David Amor; Deborah Marsh; Edward Edkins; Elizabeth Salisbury; Eric Haan; Eveline Neidermayr; Finlay Macrae; Gelareh Farshid; Geoff Lindeman; Georgia Chenevix-Trench; Graham Mann; Grantley Gill; Heather Thorne; Ian Campbell; Ian Hickie; Ingrid Winship; Jack Goldblatt; James Flanagan; James Kollias; Jane Visvader; Jennifer Stone; Jessica Taylor; Jo Burke; Jodi Saunus; John Forbes; Jonathan Beesley; Judy Kirk; Juliet French; Kathy Tucker; Kathy Wu; Kelly Phillips; Lara Lipton; Leslie Andrews; Elizabeth Lobb; Logan Walker; Maira Kentwell; Amanda Spurdle; Margaret Cummings; Margaret Gleeson; Marion Harris; Mark Jenkins; Mary Anne Young; Martin Delatycki; Mathew Wallis; Matthew Burgess; Melanie Price; Melissa Brown; Michael Bogwitz; Michael Field; Michael Friedlander; Michael Gattas; Mona Saleh; Nick Hayward; Nick Pachter; Paul Cohen; Pascal Duijf; Paul James; Peter Simpson; Peter Fong; Phyllis Butow; Rachael Williams; Richard Kefford; Rodney Scott; Rosemary Balleine; Sarah Jane Dawson; Sheau Lok; Shona O'Connell; Sian Greening; Sophie Nightingale; Stacey Edwards; Stephen Fox; Sue Anne McLachlan; Sunil Lakhani; Susan Thomas; Yoland Antill

doi:10.1038/s41467-018-03058-6

Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article

Jihoon E. Joo, James G. Dowty, Roger L. Milne, Ee Ming Wong, Pierre Antoine Dugué, Dallas English, John L. Hopper, David E. Goldgar, Graham G. Giles, Melissa C. Southey^*, Adrienne Sexton, Alice Christian, Alison Trainer, Allan Spigelman, Andrew Fellows, Andrew Shelling, Anna De Fazio, Anneke Blackburn, Ashley Crook, Bettina MeiserBriony Patterson, Christine Clarke, Christobel Saunders, Clare Hunt, Clare Scott, David Amor, Deborah Marsh, Edward Edkins, Elizabeth Salisbury, Eric Haan, Eveline Neidermayr, Finlay Macrae, Gelareh Farshid, Geoff Lindeman, Georgia Chenevix-Trench, Graham Mann, Grantley Gill, Heather Thorne, Ian Campbell, Ian Hickie, Ingrid Winship, Jack Goldblatt, James Flanagan, James Kollias, Jane Visvader, Jennifer Stone, Jessica Taylor, Jo Burke, Jodi Saunus, John Forbes, Jonathan Beesley, Judy Kirk, Juliet French, Kathy Tucker, Kathy Wu, Kelly Phillips, Lara Lipton, Leslie Andrews, Elizabeth Lobb, Logan Walker, Maira Kentwell, Amanda Spurdle, Margaret Cummings, Margaret Gleeson, Marion Harris, Mark Jenkins, Mary Anne Young, Martin Delatycki, Mathew Wallis, Matthew Burgess, Melanie Price, Melissa Brown, Michael Bogwitz, Michael Field, Michael Friedlander, Michael Gattas, Mona Saleh, Nick Hayward, Nick Pachter, Paul Cohen, Pascal Duijf, Paul James, Peter Simpson, Peter Fong, Phyllis Butow, Rachael Williams, Richard Kefford, Rodney Scott, Rosemary Balleine, Sarah Jane Dawson, Sheau Lok, Shona O'Connell, Sian Greening, Sophie Nightingale, Stacey Edwards, Stephen Fox, Sue Anne McLachlan, Sunil Lakhani, Susan Thomas, Yoland Antill

^*Corresponding author for this work

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

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Abstract

Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.

Original language	English
Article number	867
Journal	Nature Communications
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41467-018-03058-6
Publication status	Published - 1 Dec 2018

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Joo, J. E., Dowty, J. G., Milne, R. L., Wong, E. M., Dugué, P. A., English, D., Hopper, J. L., Goldgar, D. E., Giles, G. G., Southey, M. C., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., De Fazio, A., Blackburn, A., Crook, A., ... Antill, Y. (2018). Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article. Nature Communications, 9(1), Article 867. https://doi.org/10.1038/s41467-018-03058-6

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title = "Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article",

abstract = "Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.",

author = "Joo, {Jihoon E.} and Dowty, {James G.} and Milne, {Roger L.} and Wong, {Ee Ming} and Dugu{\'e}, {Pierre Antoine} and Dallas English and Hopper, {John L.} and Goldgar, {David E.} and Giles, {Graham G.} and Southey, {Melissa C.} and Adrienne Sexton and Alice Christian and Alison Trainer and Allan Spigelman and Andrew Fellows and Andrew Shelling and {De Fazio}, Anna and Anneke Blackburn and Ashley Crook and Bettina Meiser and Briony Patterson and Christine Clarke and Christobel Saunders and Clare Hunt and Clare Scott and David Amor and Deborah Marsh and Edward Edkins and Elizabeth Salisbury and Eric Haan and Eveline Neidermayr and Finlay Macrae and Gelareh Farshid and Geoff Lindeman and Georgia Chenevix-Trench and Graham Mann and Grantley Gill and Heather Thorne and Ian Campbell and Ian Hickie and Ingrid Winship and Jack Goldblatt and James Flanagan and James Kollias and Jane Visvader and Jennifer Stone and Jessica Taylor and Jo Burke and Jodi Saunus and John Forbes and Jonathan Beesley and Judy Kirk and Juliet French and Kathy Tucker and Kathy Wu and Kelly Phillips and Lara Lipton and Leslie Andrews and Elizabeth Lobb and Logan Walker and Maira Kentwell and Amanda Spurdle and Margaret Cummings and Margaret Gleeson and Marion Harris and Mark Jenkins and Young, {Mary Anne} and Martin Delatycki and Mathew Wallis and Matthew Burgess and Melanie Price and Melissa Brown and Michael Bogwitz and Michael Field and Michael Friedlander and Michael Gattas and Mona Saleh and Nick Hayward and Nick Pachter and Paul Cohen and Pascal Duijf and Paul James and Peter Simpson and Peter Fong and Phyllis Butow and Rachael Williams and Richard Kefford and Rodney Scott and Rosemary Balleine and Dawson, {Sarah Jane} and Sheau Lok and Shona O'Connell and Sian Greening and Sophie Nightingale and Stacey Edwards and Stephen Fox and McLachlan, {Sue Anne} and Sunil Lakhani and Susan Thomas and Yoland Antill",

note = "Publisher Copyright: {\textcopyright} 2018 The Author(s).",

year = "2018",

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doi = "10.1038/s41467-018-03058-6",

language = "English",

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Joo, JE, Dowty, JG, Milne, RL, Wong, EM, Dugué, PA, English, D, Hopper, JL, Goldgar, DE, Giles, GG, Southey, MC, Sexton, A, Christian, A, Trainer, A, Spigelman, A, Fellows, A, Shelling, A, De Fazio, A, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Clarke, C, Saunders, C, Hunt, C, Scott, C, Amor, D, Marsh, D, Edkins, E, Salisbury, E, Haan, E, Neidermayr, E, Macrae, F, Farshid, G, Lindeman, G, Chenevix-Trench, G, Mann, G, Gill, G, Thorne, H, Campbell, I, Hickie, I, Winship, I, Goldblatt, J, Flanagan, J, Kollias, J, Visvader, J, Stone, J, Taylor, J, Burke, J, Saunus, J, Forbes, J, Beesley, J, Kirk, J, French, J, Tucker, K, Wu, K, Phillips, K, Lipton, L, Andrews, L, Lobb, E, Walker, L, Kentwell, M, Spurdle, A, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, MA, Delatycki, M, Wallis, M, Burgess, M, Price, M, Brown, M, Bogwitz, M, Field, M, Friedlander, M, Gattas, M, Saleh, M, Hayward, N, Pachter, N, Cohen, P, Duijf, P, James, P, Simpson, P, Fong, P, Butow, P, Williams, R, Kefford, R, Scott, R, Balleine, R, Dawson, SJ, Lok, S, O'Connell, S, Greening, S, Nightingale, S, Edwards, S, Fox, S, McLachlan, SA, Lakhani, S, Thomas, S & Antill, Y 2018, 'Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article', Nature Communications, vol. 9, no. 1, 867. https://doi.org/10.1038/s41467-018-03058-6

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AU - Joo, Jihoon E.

AU - Dowty, James G.

AU - Milne, Roger L.

AU - Wong, Ee Ming

AU - Dugué, Pierre Antoine

AU - English, Dallas

AU - Hopper, John L.

AU - Goldgar, David E.

AU - Giles, Graham G.

AU - Southey, Melissa C.

AU - Sexton, Adrienne

AU - Christian, Alice

AU - Trainer, Alison

AU - Spigelman, Allan

AU - Fellows, Andrew

AU - Shelling, Andrew

AU - De Fazio, Anna

AU - Blackburn, Anneke

AU - Crook, Ashley

AU - Meiser, Bettina

AU - Patterson, Briony

AU - Clarke, Christine

AU - Saunders, Christobel

AU - Hunt, Clare

AU - Scott, Clare

AU - Amor, David

AU - Marsh, Deborah

AU - Edkins, Edward

AU - Salisbury, Elizabeth

AU - Haan, Eric

AU - Neidermayr, Eveline

AU - Macrae, Finlay

AU - Farshid, Gelareh

AU - Lindeman, Geoff

AU - Chenevix-Trench, Georgia

AU - Mann, Graham

AU - Gill, Grantley

AU - Thorne, Heather

AU - Campbell, Ian

AU - Hickie, Ian

AU - Winship, Ingrid

AU - Goldblatt, Jack

AU - Flanagan, James

AU - Kollias, James

AU - Visvader, Jane

AU - Stone, Jennifer

AU - Taylor, Jessica

AU - Burke, Jo

AU - Saunus, Jodi

AU - Forbes, John

AU - Beesley, Jonathan

AU - Kirk, Judy

AU - French, Juliet

AU - Tucker, Kathy

AU - Wu, Kathy

AU - Phillips, Kelly

AU - Lipton, Lara

AU - Andrews, Leslie

AU - Lobb, Elizabeth

AU - Walker, Logan

AU - Kentwell, Maira

AU - Spurdle, Amanda

AU - Cummings, Margaret

AU - Gleeson, Margaret

AU - Harris, Marion

AU - Jenkins, Mark

AU - Young, Mary Anne

AU - Delatycki, Martin

AU - Wallis, Mathew

AU - Burgess, Matthew

AU - Price, Melanie

AU - Brown, Melissa

AU - Bogwitz, Michael

AU - Field, Michael

AU - Friedlander, Michael

AU - Gattas, Michael

AU - Saleh, Mona

AU - Hayward, Nick

AU - Pachter, Nick

AU - Cohen, Paul

AU - Duijf, Pascal

AU - James, Paul

AU - Simpson, Peter

AU - Fong, Peter

AU - Butow, Phyllis

AU - Williams, Rachael

AU - Kefford, Richard

AU - Scott, Rodney

AU - Balleine, Rosemary

AU - Dawson, Sarah Jane

AU - Lok, Sheau

AU - O'Connell, Shona

AU - Greening, Sian

AU - Nightingale, Sophie

AU - Edwards, Stacey

AU - Fox, Stephen

AU - McLachlan, Sue Anne

AU - Lakhani, Sunil

AU - Thomas, Susan

AU - Antill, Yoland

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.

AB - Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.

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M3 - Article

SN - 2041-1723

VL - 9

JO - Nature Communications

JF - Nature Communications

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M1 - 867

ER -

Heritable DNA methylation marks associated with susceptibility to breast cancer /631/67/69 /631/337/176/1988 /692/699/67/1347 /692/308/2056 /45 /45/61 article

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