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3. Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.

Author

Peljto, Anna L, Blumhagen, Rachel Z, Walts, Avram D, Cardwell, Jonathan, Powers, Julia, Corte, Tamera J, Dickinson, Joanne L, Glaspole, Ian, Moodley, Yuben P, Vasakova, Martina Koziar, Bendstrup, Elisabeth, Davidsen, Jesper R, Borie, Raphael, Crestani, Bruno, Dieude, Philippe, Bonella, Francesco, Costabel, Ulrich, Gudmundsson, Gunnar, Donnelly, Seamas C, Egan, Jim, Henry, Michael T, Keane, Michael P, Kennedy, Marcus P, McCarthy, Cormac, McElroy, Aoife N, Olaniyi, Joshua A, O'Reilly, Katherine MA, Richeldi, Luca, Leone, Paolo M, Poletti, Venerino, Puppo, Francesco, Tomassetti, Sara, Luzzi, Valentina, Kokturk, Nurdan, Mogulkoc, Nesrin, Fiddler, Christine A, Hirani, Nikhil, Jenkins, R Gisli, Maher, Toby M, Molyneaux, Philip L, Parfrey, Helen, Braybrooke, Rebecca, Blackwell, Timothy S, Jackson, Peter D, Nathan, Steven D, Porteous, Mary K, Brown, Kevin K, Christie, Jason D, Collard, Harold R, Eickelberg, Oliver, Foster, Elena E, Gibson, Kevin F, Glassberg, Marilyn, Kass, Daniel J, Kropski, Jonathan A, Lederer, David, Linderholm, Angela L, Loyd, Jim, Mathai, Susan K, Montesi, Sydney B, Noth, Imre, Oldham, Justin M, Palmisciano, Amy J, Reichner, Cristina A, Rojas, Mauricio, Roman, Jesse, Schluger, Neil, Shea, Barry S, Swigris, Jeffrey J, Wolters, Paul J, Zhang, Yingze, Prele, Cecilia MA, Enghelmayer, Juan I, Otaola, Maria, Ryerson, Christopher J, Salinas, Mauricio, Sterclova, Martina, Gebremariam, Tewodros H, Myllärniemi, Marjukka, Carbone, Roberto G, Furusawa, Haruhiko, Hirose, Masaki, Inoue, Yoshikazu, Miyazaki, Yasunari, Ohta, Ken, Ohta, Shin, Okamoto, Tsukasa, Kim, Dong Soon, Pardo, Annie, Selman, Moises, Aranda, Alvaro U, Park, Moo Suk, Park, Jong Sun, Song, Jin Woo, Molina-Molina, Maria, Planas-Cerezales, Lurdes, Westergren-Thorsson, Gunilla, Smith, Albert V, Manichaikul, Ani W, and Kim, John S

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Autoimmune Disease, Lung, Rare Diseases, Genetics, Human Genome, Prevention, Precision Medicine, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Idiopathic Pulmonary Fibrosis, Whole Genome Sequencing, Exome, whole-genome sequencing, interstitial lung disease, TOPMed, genetic association studies, telomerase, Medical and Health Sciences, Respiratory System, Cardiovascular medicine and haematology, Clinical sciences
Abstract

Rationale: Idiopathic pulmonary fibrosis (IPF) is a rare, irreversible, and progressive disease of the lungs. Common genetic variants, in addition to nongenetic factors, have been consistently associated with IPF. Rare variants identified by candidate gene, family-based, and exome studies have also been reported to associate with IPF. However, the extent to which rare variants, genome-wide, may contribute to the risk of IPF remains unknown. Objectives: We used whole-genome sequencing to investigate the role of rare variants, genome-wide, on IPF risk. Methods: As part of the Trans-Omics for Precision Medicine Program, we sequenced 2,180 cases of IPF. Association testing focused on the aggregated effect of rare variants (minor allele frequency ⩽0.01) within genes or regions. We also identified individual rare variants that are influential within genes and estimated the heritability of IPF on the basis of rare and common variants. Measurements and Main Results: Rare variants in both TERT and RTEL1 were significantly associated with IPF. A single rare variant in each of the TERT and RTEL1 genes was found to consistently influence the aggregated test statistics. There was no significant evidence of association with other previously reported rare variants. The SNP heritability of IPF was estimated to be 32% (SE = 3%). Conclusions: Rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or the development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease.

Published
2023

8. WNT5A is a putative epi‐driver of prostate cancer metastasis to the bone.

Author

Wilkinson, Emma J., Raspin, Kelsie, Malley, Roslyn C., Donovan, Shaun, Nott, Louise M., Holloway, Adele F., and Dickinson, Joanne L.

Subjects
DNA methylation, METASTASIS, GENE expression, PROSTATE cancer, BONE cancer
Abstract

Background: Current diagnostic tools are unable to distinguish low‐grade indolent prostate cancer (PrCa) from that with a propensity to become metastatic and/or lethal. Recent evidence suggests that reprogramming of the transcriptome may drive the metastatic phenotype, and that this reprogramming is controlled, at least in part, by epigenetic changes to the DNA of cancer cells, including methylation. These changes, referred to as 'epigenetic drivers,' have previously been associated with cancer cell survival. Methods: Here, using Illumina Methylation EPIC array data of paired primary PrCa and metastatic bone samples, we identified WNT5A as a putative epi‐driver of PrCa metastasis to the bone, which was further validated in vitro. Results: Significantly higher WNT5A methylation was observed in primary PrCa samples and 22Rv1 cells compared to metastatic bone samples and PC‐3 cells. This higher methylation was associated with significantly lower WNT5A gene expression. Conclusion: Given the limited effective therapies available for metastatic cancer sufferers, particularly those whose disease has metastasised to the bone, WNT5A presents as a potential putative target for therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Germline Sequencing of DNA Damage Repair Genes in Two Hereditary Prostate Cancer Cohorts Reveals New Disease Risk-Associated Gene Variants.

Author

Foley, Georgea R., Marthick, James R., Lucas, Sionne E., Raspin, Kelsie, Banks, Annette, Stanford, Janet L., Ostrander, Elaine A., FitzGerald, Liesel M., and Dickinson, Joanne L.

Subjects
RISK assessment, NORTH Americans, RESEARCH funding, AUSTRALIANS, PROSTATE tumors, DESCRIPTIVE statistics, LONGITUDINAL method, GENETIC variation, DNA repair, GENETIC mutation, GENETIC techniques, DISEASE susceptibility, SEQUENCE analysis, GENOMES, GENETIC testing, DISEASE risk factors
Abstract

Simple Summary: An urgent demand exists to identify inherited genetic risk variants for prostate cancer (PrCa), particularly in DNA damage repair genes targetable with precision medicine-based strategies. Though the most heritable common cancer, discovery of rare germline PrCa risk variants is hampered by their low frequency, even in sizeable population datasets. Through utilising two large, independent, familial PrCa resources and their likely enrichment of rare causative variants, we provide robust evidence for several novel risk variants in DNA damage repair genes. Rare, inherited variants in DNA damage repair (DDR) genes have a recognised role in prostate cancer (PrCa) susceptibility. In addition, these genes are therapeutically targetable. While rare variants are informing clinical management in other common cancers, defining the rare disease-associated variants in PrCa has been challenging. Here, whole-genome and -exome sequencing data from two independent, high-risk Australian and North American familial PrCa datasets were interrogated for novel DDR risk variants. Rare DDR gene variants (predicted to be damaging and present in two or more family members) were identified and subsequently genotyped in 1963 individuals (700 familial and 459 sporadic PrCa cases, 482 unaffected relatives, and 322 screened controls), and association analyses accounting for relatedness (MQLS) undertaken. In the combined datasets, rare ERCC3 (rs145201970, p = 2.57 × 10−4) and BRIP1 (rs4988345, p = 0.025) variants were significantly associated with PrCa risk. A PARP2 (rs200603922, p = 0.028) variant in the Australian dataset and a MUTYH (rs36053993, p = 0.031) variant in the North American dataset were also associated with risk. Evaluation of clinicopathological characteristics provided no evidence for a younger age or higher-grade disease at diagnosis in variant carriers, which should be taken into consideration when determining genetic screening eligibility criteria for targeted, gene-based treatments in the future. This study adds valuable knowledge to our understanding of PrCa-associated DDR genes, which will underpin effective clinical screening and treatment strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.

Author

O'Malley, Dannielle E., Raspin, Kelsie, Melton, Phillip E., Burdon, Kathryn P., Dickinson, Joanne L., and FitzGerald, Liesel M.

Abstract

Prostate cancer is one of the most commonly diagnosed cancers in men and unfortunately, disease will progress in up to a third of patients despite primary treatment. Currently, there is a significant lack of prognostic tests that accurately predict disease course; however, the acquisition of somatic chromosomal variation in the form of DNA copy number variants may help understand disease progression. Notably, studies have found that a higher burden of somatic copy number alterations (SCNA) correlates with more aggressive disease, recurrence after surgery and metastasis. Here we will review the literature surrounding SCNA formation, including the roles of key tumour suppressors and oncogenes (PTEN, BRCA2, NKX3.1, ERG and AR), and their potential to inform diagnostic and prognostic clinical testing to improve predictive value. Ultimately, SCNAs, or inherited germline alterations that predispose to SCNAs, could have significant clinical utility in diagnostic and prognostic tests, in addition to guiding therapeutic selection. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Data from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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17. Supplementary Figure 1 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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18. Supplementary Tables 1-8 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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19. Supplementary Notes from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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20. Supplementary Figure 3 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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21. Supplementary Figure 2 from Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Author

Amin Al Olama, Ali, primary, Benlloch, Sara, primary, Antoniou, Antonis C., primary, Giles, Graham G., primary, Severi, Gianluca, primary, Neal, David E., primary, Hamdy, Freddie C., primary, Donovan, Jenny L., primary, Muir, Kenneth, primary, Schleutker, Johanna, primary, Henderson, Brian E., primary, Haiman, Christopher A., primary, Schumacher, Fredrick R., primary, Pashayan, Nora, primary, Pharoah, Paul D.P., primary, Ostrander, Elaine A., primary, Stanford, Janet L., primary, Batra, Jyotsna, primary, Clements, Judith A., primary, Chambers, Suzanne K., primary, Weischer, Maren, primary, Nordestgaard, Børge G., primary, Ingles, Sue A., primary, Sorensen, Karina D., primary, Orntoft, Torben F., primary, Park, Jong Y., primary, Cybulski, Cezary, primary, Maier, Christiane, primary, Doerk, Thilo, primary, Dickinson, Joanne L., primary, Cannon-Albright, Lisa, primary, Brenner, Hermann, primary, Rebbeck, Timothy R., primary, Zeigler-Johnson, Charnita, primary, Habuchi, Tomonori, primary, Thibodeau, Stephen N., primary, Cooney, Kathleen A., primary, Chappuis, Pierre O., primary, Hutter, Pierre, primary, Kaneva, Radka P., primary, Foulkes, William D., primary, Zeegers, Maurice P., primary, Lu, Yong-Jie, primary, Zhang, Hong-Wei, primary, Stephenson, Robert, primary, Cox, Angela, primary, Southey, Melissa C., primary, Spurdle, Amanda B., primary, FitzGerald, Liesel, primary, Leongamornlert, Daniel, primary, Saunders, Edward, primary, Tymrakiewicz, Malgorzata, primary, Guy, Michelle, primary, Dadaev, Tokhir, primary, Little, Sarah J., primary, Govindasami, Koveela, primary, Sawyer, Emma, primary, Wilkinson, Rosemary, primary, Herkommer, Kathleen, primary, Hopper, John L., primary, Lophatonanon, Aritaya, primary, Rinckleb, Antje E., primary, Kote-Jarai, Zsofia, primary, Eeles, Rosalind A., primary, and Easton, Douglas F., primary

Published
2023
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31. Preclinical interstitial lung disease in relatives of familial pulmonary fibrosis patients

Author

Lucas, Sionne EM, primary, Raspin, Kelsie, additional, Mackintosh, John, additional, Glaspole, Ian, additional, Reynolds, Paul N, additional, Chia, Collin, additional, Grainge, Christopher, additional, Kendall, Peter, additional, Troy, Lauren, additional, Schwartz, David A, additional, Wood-Baker, Richard, additional, Walsh, Simon LF, additional, Moodley, Yuben, additional, Robertson, James, additional, Macansh, Sacha, additional, Walters, Eugene H, additional, Chambers, Daniel, additional, Corte, Tamera J, additional, and Dickinson, Joanne L, additional

Published
2022
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33. Analysis of a large prostate cancer family identifies novel and recurrent gene fusion events providing evidence for inherited predisposition

Author

Raspin, Kelsie, primary, O'Malley, Dannielle E., additional, Marthick, James R., additional, Donovan, Shaun, additional, Malley, Roslyn C., additional, Banks, Annette, additional, Redwig, Frank, additional, Skala, Marketa, additional, Dickinson, Joanne L, additional, and FitzGerald, Liesel M., additional

Published
2022
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34. Massively parallel sequencing in hereditary prostate cancer families reveals a rare risk variant in the DNA repair gene, RAD51C

Author

Marthick, James R., primary, Raspin, Kelsie, additional, Foley, Georgea R., additional, Blackburn, Nicholas B., additional, Banks, Annette, additional, Donovan, Shaun, additional, Malley, Roslyn C., additional, Field, Matthew A., additional, Stanford, Janet L., additional, Ostrander, Elaine A., additional, FitzGerald, Liesel M., additional, and Dickinson, Joanne L., additional

Published
2021
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35. TELO-SCOPE study: a randomised, double-blind, placebo-controlled, phase 2 trial of danazol for short telomere related pulmonary fibrosis

Author

Mackintosh, John A, primary, Pietsch, Maria, additional, Lutzky, Viviana, additional, Enever, Debra, additional, Bancroft, Sandra, additional, Apte, Simon H, additional, Tan, Maxine, additional, Yerkovich, Stephanie T, additional, Dickinson, Joanne L, additional, Pickett, Hilda A, additional, Selvadurai, Hiran, additional, Grainge, Christopher, additional, Goh, Nicole S, additional, Hopkins, Peter, additional, Glaspole, Ian, additional, Reynolds, Paul N, additional, Wrobel, Jeremy, additional, Jaffe, Adam, additional, Corte, Tamera J, additional, and Chambers, Daniel C, additional

Published
2021
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39. A rare variant inEZH2is associated with prostate cancer risk

Author

Raspin, Kelsie, primary, FitzGerald, Liesel M., additional, Marthick, James R., additional, Field, Matt A., additional, Malley, Roslyn C., additional, Banks, Annette, additional, Donovan, Shaun, additional, Thomson, Russell J., additional, Foley, Georgea R., additional, Stanford, Janet L., additional, and Dickinson, Joanne L., additional

Published
2021
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40. A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Author

Amin Al Olama, Ali, Kote-Jarai, Zsofia, Schumacher, Fredrick R., Wiklund, Fredrik, Berndt, Sonja I., Benlloch, Sara, Giles, Graham G., Severi, Gianluca, Neal, David E., Hamdy, Freddie C., Donovan, Jenny L., Hunter, David J., Henderson, Brian E., Thun, Michael J., Gaziano, Michael, Giovannucci, Edward L., Siddiq, Afshan, Travis, Ruth C., Cox, David G., Canzian, Federico, Riboli, Elio, Key, Timothy J., Andriole, Gerald, Albanes, Demetrius, Hayes, Richard B., Schleutker, Johanna, Auvinen, Anssi, Tammela, Teuvo L.J., Weischer, Maren, Stanford, Janet L., Ostrander, Elaine A., Cybulski, Cezary, Lubinski, Jan, Thibodeau, Stephen N., Schaid, Daniel J., Sorensen, Karina D., Batra, Jyotsna, Clements, Judith A., Chambers, Suzanne, Aitken, Joanne, Gardiner, Robert A., Maier, Christiane, Vogel, Walther, Dörk, Thilo, Brenner, Hermann, Habuchi, Tomonori, Ingles, Sue, John, Esther M., Dickinson, Joanne L., Cannon-Albright, Lisa, Teixeira, Manuel R., Kaneva, Radka, Zhang, Hong-Wei, Lu, Yong-Jie, Park, Jong Y., Cooney, Kathleen A., Muir, Kenneth R., Leongamornlert, Daniel A., Saunders, Edward, Tymrakiewicz, Malgorzata, Mahmud, Nadiya, Guy, Michelle, Govindasami, Koveela, OʼBrien, Lynne T., Wilkinson, Rosemary A., Hall, Amanda L., Sawyer, Emma J., Dadaev, Tokhir, Morrison, Jonathan, Dearnaley, David P., Horwich, Alan, Huddart, Robert A., Khoo, Vincent S., Parker, Christopher C., Van As, Nicholas, Woodhouse, Christopher J., Thompson, Alan, Dudderidge, Tim, Ogden, Chris, Cooper, Colin S., Lophatonanon, Artitaya, Southey, Melissa C., Hopper, John L., English, Dallas, Virtamo, Jarmo, Le Marchand, Loic, Campa, Daniele, Kaaks, Rudolf, Lindstrom, Sara, Diver, W. Ryan, Gapstur, Susan, Yeager, Meredith, Cox, Angela, Stern, Mariana C., Corral, Roman, Aly, Markus, Isaacs, William, Adolfsson, Jan, Xu, Jianfeng, Zheng, S. Lilly, Wahlfors, Tiina, Taari, Kimmo, Kujala, Paula, Klarskov, Peter, Nordestgaard, Børge G., Røder, M. Andreas, Frikke-Schmidt, Ruth, Bojesen, Stig E., FitzGerald, Liesel M., Kolb, Suzanne, Kwon, Erika M., Karyadi, Danielle M., Orntoft, Torben Falck, Borre, Michael, Rinckleb, Antje, Luedeke, Manuel, Herkommer, Kathleen, Meyer, Andreas, Serth, Jürgen, Marthick, James R., Patterson, Briony, Wokolorczyk, Dominika, Spurdle, Amanda, Lose, Felicity, McDonnell, Shannon K., Joshi, Amit D., Shahabi, Ahva, Pinto, Pedro, Santos, Joana, Ray, Ana, Sellers, Thomas A., Lin, Hui-Yi, Stephenson, Robert A., Teerlink, Craig, Muller, Heiko, Rothenbacher, Dietrich, Tsuchiya, Norihiko, Narita, Shintaro, Cao, Guang-Wen, Slavov, Chavdar, Mitev, Vanio, Chanock, Stephen, Gronberg, Henrik, Haiman, Christopher A., Kraft, Peter, Easton, Douglas F., and Eeles, Rosalind A.

Published
2013
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41. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis

Author

Rubio, Justin P., Bahlo, Melanie, Butzkueven, Helmut, van der Mei, Ingrid A.F., Sale, Michele M., Dickinson, Joanne L., Groom, Patricia, Johnson, Laura J., Simmons, Rex D., Tait, Brian, Varney, Mike, Taylor, Bruce, Dwyer, Terence, Williamson, Robert, Gough, Nicholas M., Kilpatrick, Trevor J., Speed, Terence P., and Foote, Simon J.

Subjects
Tasmanian aborigines -- Diseases, Genetic disorders -- Demographic aspects, Antigens -- Analysis, Multiple sclerosis -- Demographic aspects, Biological sciences
Published
2002

46. A rare variant in EZH2 is associated with prostate cancer risk.

Author

Raspin, Kelsie, FitzGerald, Liesel M., Marthick, James R., Field, Matt A., Malley, Roslyn C., Banks, Annette, Donovan, Shaun, Thomson, Russell J., Foley, Georgea R., Stanford, Janet L., and Dickinson, Joanne L.

Subjects
DISEASE risk factors, PROSTATE cancer, GENE expression, GENETIC variation, NUCLEOTIDE sequencing, NEEDLE biopsy
Abstract

Prostate cancer (PrCa) is highly heritable, and although rare variants contribute significantly to PrCa risk, few have been identified to date. Herein, whole‐genome sequencing was performed in a large PrCa family featuring multiple affected relatives spanning several generations. A rare, predicted splice site EZH2 variant, rs78589034 (G > A), was identified as segregating with disease in all but two individuals in the family, one of whom was affected with lymphoma and bowel cancer and a female relative. This variant was significantly associated with disease risk in combined familial and sporadic PrCa datasets (n = 1551; odds ratio [OR] = 3.55, P = 1.20 × 10−5). Transcriptome analysis was performed on prostate tumour needle biopsies available for two rare variant carriers and two wild‐type cases. Although no allele‐dependent differences were detected in EZH2 transcripts, a distinct differential gene expression signature was observed when comparing prostate tissue from the rare variant carriers with the wild‐type samples. The gene expression signature comprised known downstream targets of EZH2 and included the top‐ranked genes, DUSP1, FOS, JUNB and EGR1, which were subsequently validated by qPCR. These data provide evidence that rs78589034 is associated with increased PrCa risk in Tasmanian men and further, that this variant may be associated with perturbed EZH2 function in prostate tissue. Disrupted EZH2 function is a driver of tumourigenesis in several cancers, including prostate, and is of significant interest as a therapeutic target. What's new? Prostate cancer has high heritability, yet few risk variants have been identified. Here, the authors went looking for rare variants using whole genome sequencing (WGS). They tested three members of a large, multigenerational Tasmanian family with a high proportion of prostate cancer cases. WGS turned up a rare variant in EZH2, a gene that has previously been associated with prostate tumorigenesis. The researchers found the variant was associated with PrCa both in familial and sporadic cases. Tumor analysis suggests that the mutation disrupts EZH2 function and alters the expression of downstream targets. [ABSTRACT FROM AUTHOR]

Published
2021
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