Výsledky vyhledávání - "Paula Vehmanen"

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

Autor: Heli Nevanlinna, Rosa B. Barkardottir, Juha Kere, Olli Kallioniemi, Tommi Kainu, Laura Sarantaus, Valgardur Egilsson, Paula Vehmanen, Kirsi Syrjäkoski, Adalgeir Arason, Seppo Pyrhönen, Kaija Holli, Ralf Krahe, Pia Huusko, Pär-Ola Bendahl

Publikováno v: European Journal of Human Genetics. 9:773-779

The 999del5 mutation is the single, strong BRCA2 founder mutation in Iceland and the most common BRCA1/2 founder mutation in Finland. To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87888364823e37809b2c01a493a7389
https://doi.org/10.1038/sj.ejhg.5200717

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Involvement ofBRCA1 andBRCA2 in breast cancer in a western Finnish sub-population

Autor: Anitta Hartikainen, Vesa Ollikainen, Ralf Krahe, Jaakko Ignatius, Erkki Vauramo, Pia Vahteristo, Kaija Holli, Heli Nevanlinna, Kati Pääkkönen, Sanna Sauramo, Paula Vehmanen, Juha Kere, Helena Kääriäinen, Laura Sarantaus

Publikováno v: Genetic Epidemiology. 20:239-246

To date, two major familial breast cancer predisposition genes, BRCA1 and BRCA2, have been identified with hundreds of germ-line mutations, accounting for 5–10% of all breast cancer and 40–60% of all inherited breast cancer. Unexpectedly elevated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f7a8c436f91af61f6f1ce6c27d7ee3b9
https://doi.org/10.1002/1098-2272(200102)20:2<239::aid-gepi6>3.0.co

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Breast cancer risk estimation in families with history of breast cancer

Autor: Carl Blomqvist, K Aktan, Paula Vehmanen, Heli Nevanlinna, Seppo Pyrhönen, T Muhonen, H Eerola, Helena Kääriäinen

Publikováno v: British Journal of Cancer

Among 288 breast cancer patients (118 with bilateral disease and 165 with diagnosis before 40 years of age), we identified 26 families with a history of breast cancer, including a minimum of three first- or second-degree relatives. Complete pedigrees

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcf6f2455ed2530b88e652111c8dc60
http://europepmc.org/articles/PMC2228131

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Genome-wide scanning for linkage in Finnish breast cancer families

Publikováno v: European journal of human genetics : EJHG. 12(2)

Only a proportion of breast cancer families has germline mutations in the BRCA1 or BRCA2 genes, suggesting the presence of additional susceptibility genes. Finding such genes by linkage analysis has turned out to be difficult due to the genetic heter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adba10dd39e2f6f253e1606aec8fe78
https://pubmed.ncbi.nlm.nih.gov/14560309

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Celiac disease in patients with severe liver disease: gluten-free diet may reverse hepatic failure

Autor: Pekka Collin, Leena Halme, Krister Höckerstedt, Martti Färkkilä, Katri Kaukinen, Paula Vehmanen, Jukka Partanen, Markku Mäki

Background & Aims: Mild liver abnormalities are common in patients with celiac disease and usually resolve with a gluten-free diet. We investigated the occurrence of celiac disease in patients with severe liver failure. Methods: Four patients with un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::685edda1e0b96bba74d1c0c40cdaca79
http://hdl.handle.net/10138/298252

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Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes

Autor: T Muhonen, Heli Nevanlinna, Lori Friedman, Seppo Pyrhönen, Kirsi Syrjäkoski, Hannaleena Eerola, Thomas S. Frank, Paula Vehmanen, Brian E. Ward, Michael C. Luce, Olli-P. Kallioniemi, Melody McClure, Laura Sarantaus, Tommi Kainu

Publikováno v: Human molecular genetics. 6(13)

One hundred breast and breast-ovarian cancer families identified at the Helsinki University Central Hospital in southern Finland and previously screened for mutations in the BRCA2 gene were now analyzed for mutations in the BRCA1 gene. The coding reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ec26d974947e9114a5df6f427cba3f
https://pubmed.ncbi.nlm.nih.gov/9361038

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