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Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

Jānis Gardovskis1 / Ilze Štrumfa1 / Edvīns Miklaševičs1 / Arvīds Irmejs1 / Genādijs Trofimovičs1 / Egils Vjaters1 / Viktors Borošenko1 / Inga Melbārde-Gorkuša1 / Andris Gardovskis1 / Andrejs Vanags1 / Andris Ābele1 / Signe Subatniece1 / Marianna Bitiņa1 / Liāna Švampāne1 / Jekaterina Žestkova1 / Dace Bērziņa1 / Karina Aksenoka1 / Viesturs Boka1 / Aldis Puķītis1 / Aiga Stāka1 / Laima Tihomirova1

Hereditary Cancer Institute, Rīga Stradiņš University, Dzirciema iela 16, LV-1007, Rīga, LATVIA1

Latvian Biomedical Research and Study Centre, Rātsupītes iela 1, Rīga, LV-1067, LATVIA2

Pauls Stradiņš Clinical University Hospital, Pilsoņu iela 13, Rīga, LV-1002, LATVIA3

This content is open access.
(CC BY-NC-ND 4.0)

Citation Information: Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.. Volume 63, Issue 4-5, Pages 131–140, ISSN (Print) 1407-009X, DOI: 10.2478/v10046-009-0042-5, November 2009

Publication History:
Published Online:
2009-11-06

Epidemiological, Clinical, Molecular Features and Early Detection Strategy of Most Frequent Hereditary Cancers in Latvia

The aim of the study was to determine epidemiological, clinical and molecular features of hereditary breast-ovarian, colorectal, endometrial, prostate and pancreatic cancer in Latvia. The study was performed from 2006 to 2009. Family cancer histories and DNA samples from 5,040 cancer cases were collected, and more than 6,000 molecular tests were performed including multiplex PCR, direct sequencing, denaturing high performance liquid chromatography and others. For the first time, a BRCA2 gene mutation positive hereditary breast cancer family was identified. The necessity of 2 BRCA1 gene founder mutations testing, irrespective of family cancer history for breast and ovarian cancer patients, was confirmed on a large number of positive cases. Regarding hereditary ovarian cancer, every ninth case affected with this malignancy was associated with the BRCA1 gene mutation. For the first time, positive familial adenomatous polyposis cases positive for APC gene mutation were reported and data on the clinical frequency of hereditary endometrial and prostate cancer were provided. In pancreatic cancer patients there was a 3.5% frequency of BRCA1 gene founder mutations.

Izplatītākā Pārmantotā Vēža Gadījumu Epidemiologisko, Klīnisko un Molekulāro Īpatnību Agrīnas Noteikšanas Stratēgija

Darba mērķis bija izpētīt pārmantotā krūts, olnīcu, kolorektālā, endometrija, prostatas un aizkuņga dziedzera vēža epidemiologiskās, klīniskās un molekulārās īpatnības Latvijā. Pētījums tika veikts no 2006. gada līdz 2009. gadam. Kopumā gimenes onkologiskā anamnēze un perifēro asiņu DNS paraugi tika iegūti 5040 vēža gadījumos. Tika veikti vairāk kā 6000 molekulārie testi, lietojot polimerāzes ķēdes reakcijas, sekvenēšanas, denaturējošo augstas veiktspējas šķidrās hromatogrāfijas metodes un citus molekulāros izmeklējumus. Pirmo reizi Latvijā atklāta BRCA2 gēna mutācija, kas pārmantota krūts vēža gadījumā. Ar lielu gadījumu skaitu tika apstiprināts divu Latvijā biežāko BRCA1 gēna mutāciju (4153delA and 5382insC) testa lietderīgums visiem krūts un olnīcu vēža gadījumiem, neatkarīgi no gimenes onkologiskās anamnēzes. Pārmantotā olnīcu vēža pētījumā tika konstatēts, ka katrs devītais olnīcu vēža gadījums Latvijā ir saistīts ar BRCA1 gēna mutāciju. Pirmo reizi arī ziņojam par gimenes adenomatozās polipozes gadījumiem, kas saistīti ar APC gēna mutācijām. Pētījuma gaitā iegūti unikāli epidemiologiski dati par pārmantoto endometrija un prostatas vēzi, kā arī atklāts, ka 3,5% gadījumos aizkuņga dziedzera vēzis saistīts ar patogēnu mutāciju BRCA1 gēnā.

Keywords: breast; ovarian; colorectal; endometrial; prostate; pancreatic hereditary cancer

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