Molecular pathological epidemiology

{{Short description|Discipline combining epidemiology and pathology}}

Molecular pathological epidemiology (MPE, also molecular pathologic epidemiology) is a discipline combining epidemiology and pathology. It is defined as "epidemiology of molecular pathology and heterogeneity of disease". Pathology and epidemiology share the same goal of elucidating etiology of disease, and MPE aims to achieve this goal at molecular, individual and population levels. Typically, MPE utilizes tissue pathology resources and data within existing epidemiology studies. Molecular epidemiology broadly encompasses MPE and conventional-type molecular epidemiology with the use of traditional disease designation systems.

Disease process

Data from The Cancer Genome Atlas projects indicate that disease evolution is an inherently heterogeneous process. Each patient has a unique disease process (“the unique disease principle”), considering the uniqueness of the exposome and its unique influence on molecular pathologic process. This concept has been adopted in clinical medicine along with precision medicine and personalized medicine.{{citation needed|date=August 2022}}

Methodology

In MPE, investigators dissect interrelationships between exposures (e.g., environmental, dietary, lifestyle and genetic factors); alterations in cellular or extracellular molecules (disease molecular signatures); and disease evolution and progression. Investigators can analyze genome, methylome, epigenome, metabolome, transcriptome, proteome, microbiome, immunity and interactome. A putative risk factor can be linked to specific molecular signatures.{{citation needed|date=August 2022}}

MPE research enables identification of a new biomarker for potential clinical utility, using large-scale population-based data (e.g., PIK3CA mutation in colorectal cancer to select patients for aspirin therapy). The MPE approach can be used following a genome-wide association study (GWAS), termed "GWAS-MPE approach". Detailed disease endpoint phenotyping can be conducted by means of molecular pathology or surrogate histopathology or immunohistochemistry analysis of diseased tissues and cells within GWAS.

As an alternative approach, potential risk variants identified by GWAS can be examined in combination with molecular pathology analysis on diseased tissues. This GWAS-MPE approach can give not only more precise effect estimates, even larger effects, for specific molecular subtypes of the disease, but also insights into pathogenesis by linking genetic variants to molecular pathologic signatures of disease. Since molecular diagnostics is becoming routine clinical practice, molecular pathology data can aid epidemiologic research.{{citation needed|date=August 2022}}

History

MPE began as analysis of risk factors (e.g., smoking) and molecular pathological findings (e.g., KRAS G12C oncogene mutations in lung carcinoma).{{citation needed|date=May 2023}}

Studies to examine the relationship between an exposure and molecular pathological signatures of disease (particularly, cancer) became increasingly common throughout the 1990s and early 2000s.

The use of molecular pathology in epidemiology lacked standardized methodologies and guidelines as well as interdisciplinary experts and training programs. MPE research required a new conceptual framework and methodologies (epidemiological method) because MPE examines heterogeneity in an outcome variable.

The term "molecular pathological epidemiology" was used by Shuji Ogino and Meir Stampfer in 2010. Specific principles of MPE developed following 2010. The MPE paradigm is in widespread use globally,{{excessive citations inline|date=August 2022}} and has been a subject of international conferences. The International Molecular Pathological Epidemiology (MPE) Meeting Series, which was established in 2013, has been open to the research community around the world, and five meetings were held through 2021.Campbell et al. Cancer Causes Cont 2019{{cite web |url=http://www.mpemeeting.org/ |title=Home |website=mpemeeting.org}}

See also

References

{{Reflist|32em| refs =

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{{cite journal | vauthors = Campbell PT, Rebbeck TR, Nishihara R, Beck AH, Begg CB, Bogdanov AA, Cao Y, Coleman HG, Freeman GJ, Heng YJ, Huttenhower C, Irizarry RA, Kip NS, Michor F, Nevo D, Peters U, Phipps AI, Poole EM, Qian ZR, Quackenbush J, Robins H, Rogan PK, Slattery ML, Smith-Warner SA, Song M, VanderWeele TJ, Xia D, Zabor EC, Zhang X, Wang M, Ogino S | display-authors = 6 | title = Proceedings of the third international molecular pathological epidemiology (MPE) meeting | journal = Cancer Causes & Control | volume = 28| issue = 2| pages = 167–176| year = 2017 | pmid = 28097472 | doi = 10.1007/s10552-016-0845-z | department = review | pmc=5303153}}

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{{cite journal | vauthors = Hagland HR, Søreide K | title = Cellular metabolism in colorectal carcinogenesis: Influence of lifestyle, gut microbiome and metabolic pathways | journal = Cancer Letters | volume = 356 | issue = 2 Pt A | pages = 273–80 | date = January 2015 | pmid = 24614287 | doi = 10.1016/j.canlet.2014.02.026 | department = review | doi-access = free | hdl = 1956/8817 | hdl-access = free }}

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{{cite journal | vauthors = Kuller LH, Bracken MB, Ogino S, Prentice RL, Tracy RP | title = The role of epidemiology in the era of molecular epidemiology and genomics: Summary of the 2013 AJE-sponsored Society of Epidemiologic Research Symposium | journal = American Journal of Epidemiology | volume = 178 | issue = 9 | pages = 1350–4 | date = November 2013 | pmid = 24105654 | doi = 10.1093/aje/kwt239 | pmc=3988450}}

{{cite journal | vauthors = Nan H, Morikawa T, Suuriniemi M, Imamura Y, Werner L, Kuchiba A, Yamauchi M, Hunter DJ, Kraft P, Giovannucci EL, Fuchs CS, Ogino S, Freedman ML, Chan AT | display-authors = 6 | title = Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations | journal = Journal of the National Cancer Institute | volume = 105 | issue = 24 | pages = 1852–61 | date = December 2013 | pmid = 24317174 | doi = 10.1093/jnci/djt331 | department = primary | pmc = 3866156 }}

{{cite journal | vauthors = Ogino S, Stampfer M | title = Lifestyle factors and microsatellite instability in colorectal cancer: the evolving field of molecular pathological epidemiology | journal = Journal of the National Cancer Institute | volume = 102 | issue = 6 | pages = 365–7 | date = March 2010 | pmid = 20208016 | pmc = 2841039 | doi = 10.1093/jnci/djq031 | type = Comment }}

{{cite journal | vauthors = Ogino S, Chan AT, Fuchs CS, Giovannucci E | title = Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field | journal = Gut | volume = 60 | issue = 3 | pages = 397–411 | date = March 2011 | pmid = 21036793 | pmc = 3040598 | doi = 10.1136/gut.2010.217182 | department = review }}

{{cite journal | vauthors = Ogino S, Fuchs CS, Giovannucci E | title = How many molecular subtypes? Implications of the unique tumor principle in personalized medicine | journal = Expert Review of Molecular Diagnostics | volume = 12 | issue = 6 | pages = 621–8 | year = 2012 | pmid = 22845482 | pmc = 3492839 | doi = 10.1586/erm.12.46 | department = review }}

{{cite journal | vauthors = Ogino S, Beck AH, King EE, Sherman ME, Milner DA, Giovannucci E | title = Ogino et Al. Respond to "the 21st century epidemiologist" | journal = American Journal of Epidemiology | volume = 176 | issue = 8 | pages = 672–4 | year = 2012 | pmid = 22935516 | pmc = 3571249 | doi = 10.1093/aje/kws229 }}

{{cite journal | vauthors = Ogino S, Lochhead P, Chan AT, Nishihara R, Cho E, Wolpin BM, Meyerhardt JA, Meissner A, Schernhammer ES, Fuchs CS, Giovannucci E | display-authors = 6 | title = Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease | journal = Modern Pathology | volume = 26 | issue = 4 | pages = 465–84 | date = April 2013 | pmid = 23307060 | pmc = 3637979 | doi = 10.1038/modpathol.2012.214 | department = review }}

{{cite journal | vauthors = Ogino S, Lochhead P, Giovannucci E, Meyerhardt JA, Fuchs CS, Chan AT | title = Discovery of colorectal cancer PIK3CA mutation as potential predictive biomarker: power and promise of molecular pathological epidemiology | journal = Oncogene | volume = 33 | issue = 23 | pages = 2949–55 | date = June 2014 | pmid = 23792451 | doi = 10.1038/onc.2013.244 | department = review | pmc = 3818472 }}

{{cite journal | vauthors = Ogino S, Campbell PT, Nishihara R, Phipps AI, Beck AH, Sherman ME, Chan AT, Troester MA, Bass AJ, Fitzgerald KC, Irizarry RA, Kelsey KT, Nan H, Peters U, Poole EM, Qian ZR, Tamimi RM, Tchetgen Tchetgen EJ, Tworoger SS, Zhang X, Giovannucci EL, van den Brandt PA, Rosner BA, Wang M, Chatterjee N, Begg CB | display-authors = 6 | title = Proceedings of the second international molecular pathological epidemiology (MPE) meeting | journal = Cancer Causes & Control | volume = 26 | issue = 7 | pages = 959–72 | year = 2015 | pmid = 25956270 | pmc = 4466011 | doi = 10.1007/s10552-015-0596-2 }}

{{cite web | title = The Ogino MPE lab | url = http://ogino-mpe-lab.dana-farber.org | publisher = Dana-Farber Cancer Institute | access-date = 2020-04-07 | archive-url = https://web.archive.org/web/20190515032651/http://ogino-mpe-lab.dana-farber.org/ | archive-date = 2019-05-15 | url-status = dead }}

{{cite journal | vauthors = Shanmuganathan R, Basheer NB, Amirthalingam L, Muthukumar H, Kaliaperumal R, Shanmugam K | title = Conventional and nanotechniques for DNA methylation profiling | journal = The Journal of Molecular Diagnostics | volume = 15 | issue = 1 | pages = 17–26 | date = January 2013 | pmid = 23127612 | doi = 10.1016/j.jmoldx.2012.06.007 | department = review | doi-access = free }}

{{cite journal | vauthors = Shen H, Fridley BL, Song H, Lawrenson K, Cunningham JM, Ramus SJ, Cicek MS, Tyrer J, Stram D, Larson MC, Köbel M, Ziogas A, Zheng W, Yang HP, Wu AH, Wozniak EL, Woo YL, Winterhoff B, Wik E, Whittemore AS, Wentzensen N, Weber RP, Vitonis AF, Vincent D, Vierkant RA, Vergote I, Van Den Berg D, Van Altena AM, Tworoger SS, Thompson PJ, Tessier DC, Terry KL, Teo SH, Templeman C, Stram DO, Southey MC, Sieh W, Siddiqui N, Shvetsov YB, Shu XO, Shridhar V, Wang-Gohrke S, Severi G, Schwaab I, Salvesen HB, Rzepecka IK, Runnebaum IB, Rossing MA, Rodriguez-Rodriguez L, Risch HA, Renner SP, Poole EM, Pike MC, Phelan CM, Pelttari LM, Pejovic T, Paul J, Orlow I, Omar SZ, Olson SH, Odunsi K, Nickels S, Nevanlinna H, Ness RB, Narod SA, Nakanishi T, Moysich KB, Monteiro AN, Moes-Sosnowska J, Modugno F, Menon U, McLaughlin JR, McGuire V, Matsuo K, Adenan NA, Massuger LF, Lurie G, Lundvall L, Lubiński J, Lissowska J, Levine DA, Leminen A, Lee AW, Le ND, Lambrechts S, Lambrechts D, Kupryjanczyk J, Krakstad C, Konecny GE, Kjaer SK, Kiemeney LA, Kelemen LE, Keeney GL, Karlan BY, Karevan R, Kalli KR, Kajiyama H, Ji BT, Jensen A, Jakubowska A, Iversen E, Hosono S, Høgdall CK, Høgdall E, Hoatlin M, Hillemanns P, Heitz F, Hein R, Harter P, Halle MK, Hall P, Gronwald J, Gore M, Goodman MT, Giles GG, Gentry-Maharaj A, Garcia-Closas M, Flanagan JM, Fasching PA, Ekici AB, Edwards R, Eccles D, Easton DF, Dürst M, du Bois A, Dörk T, Doherty JA, Despierre E, Dansonka-Mieszkowska A, Cybulski C, Cramer DW, Cook LS, Chen X, Charbonneau B, Chang-Claude J, Campbell I, Butzow R, Bunker CH, Brueggmann D, Brown R, Brooks-Wilson A, Brinton LA, Bogdanova N, Block MS, Benjamin E, Beesley J, Beckmann MW, Bandera EV, Baglietto L, Bacot F, Armasu SM, Antonenkova N, Anton-Culver H, Aben KK, Liang D, Wu X, Lu K, Hildebrandt MA, Schildkraut JM, Sellers TA, Huntsman D, Berchuck A, Chenevix-Trench G, Gayther SA, Pharoah PD, Laird PW, Goode EL, Pearce CL | display-authors = 6 | title = Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer | journal = Nature Communications | volume = 4 | pages = 1628 | year = 2013 | pmid = 23535649 | pmc = 3848248 | doi = 10.1038/ncomms2629 | bibcode = 2013NatCo...4.1628. | department = primary }}

{{cite journal | vauthors = Sherman ME, Howatt W, Blows FM, Pharoah P, Hewitt SM, Garcia-Closas M | title = Molecular pathology in epidemiologic studies: a primer on key considerations | journal = Cancer Epidemiology, Biomarkers & Prevention | volume = 19 | issue = 4 | pages = 966–72 | date = April 2010 | pmid = 20332257 | pmc = 2852464 | doi = 10.1158/1055-9965.EPI-10-0056 | department = review }}

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{{cite journal | vauthors = Slattery ML, Herrick J, Curtin K, Samowitz W, Wolff RK, Caan BJ, Duggan D, Potter JD, Peters U | title = Increased risk of colon cancer associated with a genetic polymorphism of SMAD7 | journal = Cancer Research | volume = 70 | issue = 4 | pages = 1479–85 | date = February 2010 | pmid = 20124488 | pmc = 2925533 | doi = 10.1158/0008-5472.CAN-08-1792 | department = primary }}

{{cite journal | vauthors = Spitz MR, Caporaso NE, Sellers TA | title = Integrative cancer epidemiology--the next generation | journal = Cancer Discovery | volume = 2 | issue = 12 | pages = 1087–90 | date = December 2012 | pmid = 23230187 | pmc = 3531829 | doi = 10.1158/2159-8290.CD-12-0424 }}

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Further reading

{{refbegin|32em}}

  • {{cite journal | vauthors = Gao C | title = Molecular pathological epidemiology in diabetes mellitus and risk of hepatocellular carcinoma | journal = World Journal of Hepatology | volume = 8 | issue = 27 | pages = 1119–1127 | year = 2016 | pmid = 27721917 | pmc = 5037325 | doi = 10.4254/wjh.v8.i27.1119 | doi-access = free }}
  • {{cite journal | vauthors = Rescigno T, Micolucci L, Tecce MF, Capasso A | title = Bioactive Nutrients and Nutrigenomics in Age-Related Diseases | journal = Molecules | volume = 22 | issue = 1 | page = 105| year = 2017 | pmid = 28075340 | doi = 10.3390/molecules22010105 | pmc = 6155887 | doi-access = free }}
  • {{cite journal | vauthors = Patil H, Saxena SG, Barrow CJ, Kanwar JR, Kapat A, Kanwar RK | title = Chasing the personalized medicine dream through biomarker validation in colorectal cancer | journal = Drug Discovery Today | volume = 22 | issue = 1 | pages = 111–119 | year = 2017 | pmid = 27693431 | doi = 10.1016/j.drudis.2016.09.022 }}

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