Research

INTERNATIONAL LYNCH SYNDROME RESEARCH

Inherited MMR deficiency, i.e. Lynch syndrome, gives rise to a broad spectrum of tumors, especially colorectal and endometrial cancers, but also ovarian, gastric, urinary, small bowel, brain and bile duct/gallbladder cancers. The history of international Lynch syndrome research can be traced back to 1895 and the discovery of a family cancer syndrome. The disease was characterized by Henry T. Lynch in 1966 and came to be known as Hereditary NonPolyposis Colorectal Cancer (HNPCC), which in honour of Dr. Lynch’s findings, was later termed Lynch syndrome. The molecular genetics era began in 1993 when a germline MMR gene mutation was identified as a cause of LS. Currently Lynch syndrome research is being actively carried out worldwide, with an approach that focuses on obtaining a deeper understanding of the molecular mechanism behind LS, enabling preventive diagnosis and personalized medical care.

RESOURCES

International Society for Gastrointestinal Hereditary Tumors (InSiGHT) is an international multidisciplinary, scientific organization with the mission to improve the quality of care of patients and their families with any condition resulting in hereditary gastrointestinal tumors. The inventors, scientific advisors, key collaborators, and LS CancerDiag Ltd employees have actively participated in the activities of InSiGHT.
Finnish HNPCC is a group formed by leading Finnish Lynch syndrome researchers. The group is actively involved in several projects on the MMR mechanism and LS in collaboration with Central University Hospitals in Finland.
International Agency for Cancer Research (IARC) is the specialized cancer agency of the World Health Organization. The objective of the IARC is to promote international collaboration in cancer research to adopt preventive measures and reduce cancer mortality.

ACADEMIC RESEARCH ROOT OF DIAGMMR®

The DiagMMR® innovation is based on more than 20 years of academic research at the University of Helsinki, where the functional MMR assay research and development has resulted in 7 PhDs and 30 original peer-reviewed publications in the 2000’s. DiagMMR® is an advanced application of an in vitro MMR assay used for the functional characterization of MMR gene mutations.

ORIGINAL ARTICLES

Kasela M, Nyström M, Kansikas M. PMS2 expression decrease causes severe problems in mismatch repair. Hum Mutat 40: 904- 907, 2019.

Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P., Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi, M. & InSiGHT Variant Interpretation Committee. Assessment of the InSiGHT interpretation criteria for the clinical classification of 24 MLH1 and MSH2 gene variants. Hum Mutat 38: 64-77, 2016

Kansikas M, Kasela M, Kantelinen J, Nyström M. Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency. Hum Mutat 35:1123-1127, 2014.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46: 107-15, 2014.

Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M. Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Hum Mutat 33: 1294-1301, 2012.

Kantelinen J, Hansen TVO, Kansikas M, Nylandsted Krogh L, Korhonen MK, Ollila S, Nyström M, Gerdes A-M, Kariola R. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance – functional analysis reveals the pathogenic one. Fam Cancer 10: 515-520, 2011.

Kansikas M, Kariola R, Nyström M. Verification of the Three Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants. Hum Mutat 32: 107-115, 2011.

Ollila, S, Dermadi Bebek D, Jiricny J, Nyström M. Mechanisms of pathogenicity in human MSH2 missense mutants. Hum Mutat 29: 1355-1363, 2008.

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes A-M, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M. Pathogenicity of MSH2 Missense Mutations is Typically Associated with Impaired Repair Capability of the Mutated Protein. Gastroenterology 131: 1408-1417, 2006.

Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes A-M, Peltomäki P, Kohonen-Corish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, and Nyström M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549, 2005.

Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, and Nyström-Lahti M. MSH6 missense mutations are often associated with no or low cancer susceptibility. Brit J Cancer 91: 1287-1292, 2004.

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RMW, Nyström-Lahti M. Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic? Hum Genet 112: 105-109, 2003.

Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 11: 1303-1310, 2002.

Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D’Urso M, Venuta S, Jiricny J. Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. Genes, Chromosomes & Cancer 33: 160-167, 2002.

Schweizer P, Moisio A-L, Kuismanen SA, Truninger K, Vierumäki R, Salovaara R, Arola J, Butzow R, Jiricny J, Peltomäki P, Nyström-Lahti M. Lack of MSH2 and MSH6 characterizes endometrial but not colon carsinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 61: 2813-2815, 2001.

Nyström-Lahti M, Wu Y, Moisio A-L, Hofstra RMW, Osinga J, Mecklin J-P, Järvinen HJJ, Leisti J, Buys CHCM, de la Chapelle A, Peltomäki P: DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5:763-769, 1996.

Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B: Mutations of a  MutS homolog in hereditary non-polyposis colorectal cancer. Cell 75: 1215-1225, 1993.

REVIEW

Jiricny J & Nyström-Lahti M. Mismatch repair defects in cancer. Current Opinion in Genetis & Development 10: 157-161, 2000.

BOOK CHAPTER

Nyström, M. & Kansikas, M. (2013) DNA Alterations in Lynch Syndrome. Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance. DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counseling. Vogelsang, M. (ed.). Springer, p. 85-100.

OTHER

Nyström, M. & Kansikas, M. (2017) Predictive cancer diagnostics: LS CancerDiag Ltd has developed DiagMMR, an innovative method to detect cancer syndrome before cancers form. Pan European Networks, Health 02:164-165.

SEE ALSO

StartUp Health: 8 Startups That Are Ending Cancer As We Know It.

Website of Professor Nyström’s research group:
DNA Mismatch Repair and Cancer | University of Helsinki.

Lynch syndrome stats

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This document informs you about privacy issues such as the collection, storage, use and disclosure of personal information received from users of this Website, and of personal information received in the course of the provided services.

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LS CancerDiag Ltd
Business ID 2558287-9
c/o Terkko Health Hub
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Email: privacy@lscancerdiag.com

Data we may collect about you

If you are a website visitor, we may collect your name, email, and cookies.

If you are a patient, we may collect your name, date of birth, gender, ethnicity, nationality, identifiable genetic information, health-related information from your physician, specimen identification number and equivalent identifiers, family history and relationships.

If you are a customer, marketing contact, or job applicant, we may collect your name, contact details and relevant professional data.

If you are an employee or corporate-related member of LS CancerDiag Ltd, this privacy statement does not apply to you. You may contact LS CancerDiag Ltd for the relevant privacy notice.

How we receive your data

If you are a website visitor, customer, marketing contact, or job applicant, your data is collected by us with your consent.

If you are a patient, your data is collected by your healthcare facility or intermediary lab testing facility and send to us for diagnostic testing.

How we use your data

We look at the trend of our website visitors to understand how we can improve our online communication about our services. Some data may be visible, such as your cookies, and from where you access our website. Other information may not be visible to us.

We provide our services, such as diagnostic testing and analysis, to our customers, and keep them informed about our company updates.

We are building our network with marketing contacts to make sure our company updates and achievements are spread within the community.

Data from job applicants is kept with specific consent for future career opportunities, or deleted after completion of the interview process.

Data from patients is used for diagnostic testing, to provide the patient’s physician health-related information about the patient and its family. If the patient has provided informed consent to its healthcare facility, we may also use the patient data for further research to improve our internal diagnostic testing services, or acquire a deeper academic understanding about the specifics of the Lynch syndrome.

How we protect your data

We have implemented several technical and organizational measures to protect the identity of any of our data subjects.

We use only secured electronic tools, which acquired prior approval by our data protection officer, and which are subject to regular review and updates. We do not make use of automatic decision-making tools.

Within our organization, only authorized personnel are assigned to process specific types of data originating from patients, customers and marketing contacts, and employees and job applicants. All personnel, new or onboarding staff, consultants, external or technical advisers are only allowed to process data that is specifically required to fulfill their work-related purpose, and only when they have obtained prior authorization.

We are processing patient-related information under pseudonymized references to make sure no identifying information is revealed when used for diagnostic testing and, in those instances, where the results are used for further internal research purposes.

 

Regularly we audit, review, update and communicate our data protection policy documentation, risk assessment, breach policy, IT systems and policies, storage and retention documentation under guidance of our data protection officer together with the entire team, and we record the results in our data protection registry of records.

Do we share your data

We only share your data with sub-processors we have carefully vetted and are authorized by our data protection officer, to assist us in providing our diagnostic services, such as external electronic tools to store your data in protected clouds, or couriers to send your samples to the healthcare facility.

Unless explicitly authorized to do so by a legal obligation, we do not share your personal data with any other third parties.

Do we transfer your data

LS CancerDiag Ltd is based in Finland and does not transfer data from our website visitor, customer, marketing contact, job applicants or patient data outside the European Economic Area, unless your data is stored in Cloud services outside the European Economic Area. In those instances, we have ensured carefully the legal contractual requirements to make use of these services to fully protect the identity of the data subjects.

If LS CancerDiag Ltd has received patient data from a healthcare or intermediary lab testing facility within the European Economic Area, we will not transfer your data physically outside the Union.

In the event we have received patient data from a healthcare or intermediary lab testing facility outside the European Economic Area, we will transfer your data physically outside the Union, carefully and in compliance with the legal requirements for international transfers.

How long do we store your data

We retain data regarding our website visitors, that is identifiable in some nature, for maximum of one year. Website data, which is anonymous, is not subject to data protection laws and kept indefinitely.

Data regarding customers and marketing contacts, are kept for a duration of two to five years, depending on the nature of the business relationship. Each year this data will be reviewed and established if it is necessary to retain the data.

Data regarding job applicants will be kept throughout the interview process and deleted within sixty days after conclusion. In the event the job applicant wishes to remain in our database for future job opportunities, we will keep the data for a duration of maximum one year.

Health-related data from patients will be kept internally within our company for not longer than ten years.

How can I exercise my data protection rights?

As a website visitor, customer or marketing contact or job applicant, you have at all times the right to:

  • access your data and request copies of all processing activities concerning your data;
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  • request a structured, commonly used and machine-readable format to transfer the data to another controller or directly to you (portability).

 

As a patient, you have in principle the same rights as stated above. However, in some instances we may not be able to comply because we are not your data controller. In those instances, may you contact us, we will refer to your healthcare facility and we will assist your data controller to the best of our abilities.

Complaints

Please feel free to consult us about your data protection rights, or any privacy matter related to you. Should you LS CancerDiag Ltd has not addressed your concerns in a satisfying manner, or you wish to report a complaint, you may contact the Data Protection Authority in Finland or in your country of residence.

Updates

This policy was last updated Ferburary 2021. LS CancerDiag Ltd will keep this privacy policy continuously under review and reserves the right to modify this document. LS CancerDiag Ltd advises you to regularly to consult this document for the latest updates.

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