TY - JOUR
T1 - Epidemiological, clinical, molecular features and early detection strategy of most frequent hereditary cancers in Latvia
AU - Gardovskis, Janis
AU - Štrumfa, Ilze
AU - Miklaševičs, Edvīns
AU - Irmejs, Arvids
AU - Trofimovičs, Genadijs
AU - Vjaters, Egils
AU - Boroçenko, Viktors
AU - Melbarde-Gorkuça, Inga
AU - Gardovskis, Andris
AU - Vanags, Andrejs
AU - Abele, Andris
AU - Subatniece, Signe
AU - Bitiņa, Marianna
AU - Švampane, Liana
AU - Žestkova, Jekaterina
AU - Berziņa, Dace
AU - Aksenoka, Karina
AU - Boka, Viesturs
AU - Puķitis, Aldis
AU - Staka, Aiga
AU - Tihomirova, Laima
N1 - Funding Information:
The work was supported by the National Research Programme in Medicine 2006–2009, project No. 4, “Study on clinical and molecular features of hereditary tumour to elaborate optimal prevention and early detection strategy”, Institute of Human Genetics, University of Bonn, Germany and Estonian Biocentre, University of Tartu, Estonia.
Copyright:
Copyright 2010 Elsevier B.V., All rights reserved.
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
KW - Breast
KW - Colorectal
KW - Endometrial
KW - Ovarian
KW - Pancreatic hereditary cancer
KW - Prostate
UR - http://www.scopus.com/inward/record.url?scp=73349132020&partnerID=8YFLogxK
U2 - 10.2478/v10046-009-0042-5
DO - 10.2478/v10046-009-0042-5
M3 - Article
AN - SCOPUS:73349132020
SN - 1407-009X
VL - 63
SP - 131
EP - 140
JO - Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
JF - Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
IS - 4-5
ER -