Genetics meets pathology - an increasingly important relationship

被引：5

作者：

Bonthron, David T. ^{[1
]}

Foulkes, William D. ^{[2
,3
,4
]}

机构：

[1] Univ Leeds, Fac Med & Hlth, Genet Sect, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England

[2] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[3] McGill Univ, Dept Oncol, Montreal, PQ, Canada

[4] McGill Univ, Dept Med, Montreal, PQ, Canada

来源：

JOURNAL OF PATHOLOGY | 2017年 / 241卷 / 02期

基金：

英国医学研究理事会;

关键词：

genetics; genomics; DNA sequencing; precision medicine; complex traits; rare diseases; molecular oncology; evolution; genome stability; clonality; mTOR; inflammasome; polyposis; colon cancer; prostate cancer; brain tumour; PARP; DNA repair; carcinoma in situ; tuberous sclerosis; Parkinson's disease; PINK1; Crispr/Cas9; stem cells; muscular dystrophy; ciliopathy; vascular malformation; pulmonary hypertension; TGF-beta; autoimmunity; atopy; inflammatory bowel disease; breast cancer; mitochondrial disease; MOLECULAR-MECHANISMS; CANCER EVOLUTION; MODEL ORGANISM; DISEASE; INSIGHTS; HUMANS;

D O I：

10.1002/path.4849

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The analytical power of modern methods for DNA analysis has outstripped our capability to interpret and understand the data generated. To make good use of this genomic data in a biomedical setting (whether for research or diagnosis), it is vital that we understand the mechanisms through which mutations affect biochemical pathways and physiological systems. This lies at the centre of what genetics is all about, and it is the reason why genetics and genomics should go hand in hand whenever possible. In this Annual Review Issue of The Journal of Pathology, we have assembled a collection of 16 expert reviews covering a wide range of topics. Through these, we illustrate the power of genetic analysis to improve our understanding of normal physiology and disease pathology, and thereby to think in rational ways about clinical management. Copyright (C) 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

引用

页码：119 / 122

页数：4

共 24 条

[11] Measuring cancer evolution from the genome [J].

Graham, Trevor A. ;

Sottoriva, Andrea .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :183-191

[12] Humans as a Model Organism: The Time Is Now [J].

Johnston, Mark .

GENETICS, 2014, 198 (02) :441-441

[13] New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex [J].

Lam, Hilaire C. ;

Nijmeh, Julie ;

Henske, Elizabeth P. .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :219-225

[14] The role of genetics in pulmonary arterial hypertension [J].

Ma, Lijiang ;

Chung, Wendy K. .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :273-280

[15] DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer [J].

Mateo, J. ;

Carreira, S. ;

Sandhu, S. ;

Miranda, S. ;

Mossop, H. ;

Perez-Lopez, R. ;

Rodrigues, D. Nava ;

Robinson, D. ;

Omlin, A. ;

Tunariu, N. ;

Boysen, G. ;

Porta, N. ;

Flohr, P. ;

Gillman, A. ;

Figueiredo, I. ;

Paulding, C. ;

Seed, G. ;

Jain, S. ;

Ralph, C. ;

Protheroe, A. ;

Hussain, S. ;

Jones, R. ;

Elliott, T. ;

McGovern, U. ;

Bianchini, D. ;

Goodall, J. ;

Zafeiriou, Z. ;

Williamson, C. T. ;

Ferraldeschi, R. ;

Riisnaes, R. ;

Ebbs, B. ;

Fowler, G. ;

Roda, D. ;

Yuan, W. ;

Wu, Y. -M. ;

Cao, X. ;

Brough, R. ;

Pemberton, H. ;

A'Hern, R. ;

Swain, A. ;

Kunju, L. P. ;

Eeles, R. ;

Attard, G. ;

Lord, C. J. ;

Ashworth, A. ;

Rubin, M. A. ;

Knudsen, K. E. ;

Feng, F. Y. ;

Chinnaiyan, A. M. ;

Hall, E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (18) :1697-1708

[16] Motile and non-motile cilia in human pathology: from function to phenotypes [J].

Mitchison, Hannah M. ;

Valente, Enza Maria .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :294-309

[17] A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns [J].

Notta, Faiyaz ;

Chan-Seng-Yue, Michelle ;

Lemire, Mathieu ;

Li, Yilong ;

Wilson, Gavin W. ;

Connor, Ashton A. ;

Denroche, Robert E. ;

Liang, Sheng-Ben ;

Brown, Andrew M. K. ;

Kim, Jaeseung C. ;

Wang, Tao ;

Simpson, Jared T. ;

Beck, Timothy ;

Borgida, Ayelet ;

Buchner, Nicholas ;

Chadwick, Dianne ;

Hafezi-Bakhtiari, Sara ;

Dick, John E. ;

Heisler, Lawrence ;

Hollingsworth, Michael A. ;

Ibrahimov, Emin ;

Jang, Gun Ho ;

Johns, Jeremy ;

Jorgensen, Lars G. T. ;

Law, Calvin ;

Ludkovski, Olga ;

Lungu, Ilinca ;

Ng, Karen ;

Pasternack, Danielle ;

Petersen, Gloria M. ;

Shlush, Liran I. ;

Timms, Lee ;

Tsao, Ming-Sound ;

Wilson, Julie M. ;

Yung, Christina K. ;

Zogopoulos, George ;

Bartlett, John M. S. ;

Alexandrov, Ludmil B. ;

Real, Francisco X. ;

Cleary, Sean P. ;

Roehrl, Michael H. ;

McPherson, John D. ;

Stein, Lincoln D. ;

Hudson, Thomas J. ;

Campbell, Peter J. ;

Gallinger, Steven .

NATURE, 2016, 538 (7625) :378-+

[18] The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery [J].

O'Driscoll, Mark .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :192-207

[19] The burgeoning field of innate immune-mediated disease and autoinflammation [J].

Peckham, Daniel ;

Scambler, Thomas ;

Savic, Sinisa ;

McDermott, Michael F. .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :123-139

[20] The molecular underpinnings of prostate cancer: impacts on management and pathology practice [J].

Rodrigues, Daniel Nava ;

Boysen, Gunther ;

Sumanasuriya, Semini ;

Seed, George ;

De Marzo, Angelo M. ;

de Bono, Johann .

JOURNAL OF PATHOLOGY, 2017, 241 (02) :173-182

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