Search Results - "Syrjäkoski, Kirsi"

Penetrance Analysis of the PALB2 c.1592delT Founder Mutation by Erkko, Hannele, Dowty, James G, Nikkilä, Jenni, Syrjäkoski, Kirsi, Mannermaa, Arto, Pylkäs, Katri, Southey, Melissa C, Holli, Kaija, Kallioniemi, Anne, Jukkola-Vuorinen, Arja, Kataja, Vesa, Kosma, Veli-Matti, Xia, Bing, Livingston, David M, Winqvist, Robert, Hopper, John L

“…Purpose: PALB2 is a recently identified breast cancer susceptibility gene. We have previously identified in the Finnish population a PALB2 c.1592delT founder…”
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A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer by Vahteristo, Pia, Bartkova, Jirina, Eerola, Hannaleena, Syrjäkoski, Kirsi, Ojala, Salla, Kilpivaara, Outi, Tamminen, Anitta, Kononen, Juha, Aittomäki, Kristiina, Heikkilä, Päivi, Holli, Kaija, Blomqvist, Carl, Bartek, Jiri, Kallioniemi, Olli-P., Nevanlinna, Heli

“…CHEK2 (previously known as “CHK2”) is a cell-cycle–checkpoint kinase that phosphorylates p53 and BRCA1 in response to DNA damage. A protein-truncating…”
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Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients by Syrjäkoski, Kirsi, Vahteristo, Pia, Eerola, Hannaleena, Tamminen, Anitta, Kivinummi, Kati, Sarantaus, Laura, Holli, Kaija, Blomqvist, Carl, Kallioniemi, Olli-P., Kainu, Tommi, Nevanlinna, Heli

“…The frequency of the BRCA1 and BRCA2 mutations in unselected Finnish breast cancer patients was 1.8% (Table 1), which is much lower than the reported…”
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Large genomic BRCA2 rearrangements and male breast cancer by Karhu, Ritva, Laurila, Eeva, Kallioniemi, Anne, Syrjäkoski, Kirsi

“…Background: Germ-line mutations of the BRCA2 gene are the highest known risk factors for male breast cancer (MBC). Mutations in BRCA2 are mainly point…”
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Mutations in the BRCA2 interacting DSS1 are not a risk factor for male breast cancer by Syrjäkoski, Kirsi, Jäntti, Jussi, Kallioniemi, Anne, Karhu, Ritva

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Frequent amplification and overexpression of CCND1 in male breast cancer by Bärlund, Maarit, Kuukasjärvi, Tuula, Syrjäkoski, Kirsi, Auvinen, Anssi, Kallioniemi, Anne

“…Genetic events underlying the pathogenesis of breast cancer have been studied extensively and several clinically significant markers have been identified. For…”
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Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer by Pylkäs, Katri, Tommiska, Johanna, Syrjäkoski, Kirsi, Kere, Juha, Gatei, Magtouf, Waddell, Nicola, Allinen, Minna, Karppinen, Sanna-Maria, Rapakko, Katrin, Kääriäinen, Helena, Aittomäki, Kristiina, Blomqvist, Carl, Mustonen, Aki, Holli, Kaija, Khanna, Kum Kum, Kallioniemi, Olli-Pekka, Nevanlinna, Heli, Winqvist, Robert

“…Biallelic mutations in the ataxia-telangiectasia mutated (ATM) gene result in ataxia-telangiectasia (A-T). Studies on A-T families have shown that obligate…”
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Hemochromatosis gene mutations among Finnish male breast and prostate cancer patients by Syrjäkoski, Kirsi, Fredriksson, Henna, Ikonen, Tarja, Kuukasjärvi, Tuula, Autio, Ville, Matikainen, Mika P., Tammela, Teuvo L.J., Koivisto, Pasi A., Schleutker, Johanna

“…Hereditary hemochromatosis (HH), the most common genetic disease in northern Europeans, is an autosomal recessive disorder of iron metabolism. The association…”
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Two percent of Finnish prostate cancer patients have a germ-line mutation in the hormone-binding domain of the androgen receptor gene by MONONEN, Nina, SYRJÄKOSKI, Kirsi, MATIKAINEN, Mika, TAMMELA, Teuvo L. J, SCHLEUTKER, Johanna, KALLIONIEMI, Olli-P, TRAPMAN, Jan, KOIVISTO, Pasi A

“…Mutations of the androgen receptor (AR) gene have been reported in prostate cancer, usually from tumor tissue specimens from late-stage, androgen-independent…”
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BRCA2 Mutations in 154 Finnish Male Breast Cancer Patients by Syrjäkoski, Kirsi, Kuukasjärvi, Tuula, Waltering, Kati, Haraldsson, Karin, Auvinen, Anssi, Borg, Åke, Kainu, Tommi, Kallioniemi, Olli-P, Koivisto, Pasi A.

“…The etiology and pathogenesis of male breast cancer (MBC) are poorly known. This is due to the fact that the disease is rare, and large-scale genetic…”
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Androgen receptor gene alterations in finnish male breast cancer by SYRJÄKOSKI, Kirsi, HYYTINEN, Eija-R, KUUKASJÄRVI, Tuula, AUVINEN, Anssi, KALLIONIEMI, Olli-P, KAINU, Tommi, KOIVISTO, Pasi A

“…Mutations in the androgen receptor (AR) gene have been suggested to predispose to male breast cancer (MBC). Studies on MBC patients have not been based on the…”
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Analysis of p53 tumor suppressor gene in families with multiple glioma patients by PAUNU, Niina, SYRJÄKOSKI, Kirsi, SANKILA, Risto, SIMOLA, Kalle O. J, HELEN, Pauli, NIEMELÄ, Mika, MATIKAINEN, Mika, ISOLA, Jorma, HAAPASALO, Hannu

“…The high incidence of gliomas in Li-Fraumeni families and the high frequency of somatic p53 mutations in sporadic glial tumors have raised the possibility that…”
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Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families by Barkardottir, R B, Sarantaus, L, Arason, A, Vehmanen, P, Bendahl, P O, Kainu, T, Syrjäkoski, K, Krahe, R, Huusko, P, Pyrhönen, S, Holli, K, Kallioniemi, O P, Egilsson, V, Kere, J, Nevanlinna, H

“…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…”
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NAD(P)H:quinone oxidoreductase 1 NQO12 genotype (P187S) is a strong prognostic and predictive factor in breast cancer by Fagerholm, Rainer, Hofstetter, Barbara, Tommiska, Johanna, Aaltonen, Kirsimari, Vrtel, Radek, Syrjäkoski, Kirsi, Kallioniemi, Anne, Kilpivaara, Outi, Mannermaa, Arto, Kosma, Veli-Matti, Uusitupa, Matti, Eskelinen, Matti, Kataja, Vesa, Aittomäki, Kristiina, von Smitten, Karl, Heikkilä, Päivi, Lukas, Jiri, Holli, Kaija, Bartkova, Jirina, Blomqvist, Carl, Bartek, Jiri, Nevanlinna, Heli

“…Jiri Bartek and colleagues find that a common variant reducing NAD(P)H:quinone oxidoreductase 1 activity is a potential predictor of response to epirubicin…”
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Response: Re: Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients by Vahteristo, Pia, Syrjäkoski, Kirsi, Eerola, Hannaleena, Kainu, Tommi, Holli, Kaija, Blomqvist, Carl, Kallioniemi, Olli-P., Nevanlinna, Heli

“…in Asian patients with BRCA1 mutations. Lancet 1999;353:20701.(7) Den Otter W, Merchant TE, Beijerinck D, Koten JW. Breast cancer induction due to mammographic…”
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A recurrent mutation in PALB2 in Finnish cancer families by Livingston, David M, Winqvist, Robert, Erkko, Hannele, Xia, Bing, Nikkilä, Jenni, Schleutker, Johanna, Syrjäkoski, Kirsi, Mannermaa, Arto, Kallioniemi, Anne, Pylkäs, Katri, Karppinen, Sanna-Maria, Rapakko, Katrin, Miron, Alexander, Sheng, Qing, Li, Guilan, Mattila, Henna, Bell, Daphne W, Haber, Daniel A, Grip, Mervi, Reiman, Mervi, Jukkola-Vuorinen, Arja, Mustonen, Aki, Kere, Juha, Aaltonen, Lauri A, Kosma, Veli-Matti, Kataja, Vesa, Soini, Ylermi, Drapkin, Ronny I

“…BRCA1, BRCA2 and other known susceptibility genes account for less than half of the detectable hereditary predisposition to breast cancer. Other relevant genes…”
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Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer Differentiate BRCA2-Associated Tumors by HONRADO, Emiliano, OSORIO, Ana, LERMA, Enrique, KALLIONIEMI, Anne, RIVAS, Carmen, FOULKES, William D, NEVANHNNA, Heli, BENITEZ, Javier, PALACIOS, José, MILNE, Roger L, SANCHEZ, Lydia, DIEZ, Orland, CAZORLA, Alicia, SYRJAKOSKI, Kirsi, HUNTSMAN, David, HEIKKILA, Paivi

“…Morphologic and immunohistochemical studies of familial breast cancers have identified specific characteristics associated with BRCA1 mutation-associated…”
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CHEK2 variant I157T may be associated with increased breast cancer risk by Kilpivaara, Outi, Vahteristo, Pia, Falck, Jacob, Syrjäkoski, Kirsi, Eerola, Hannaleena, Easton, Douglas, Bartkova, Jirina, Lukas, Jiri, Heikkilä, Päivi, Aittomäki, Kristiina, Holli, Kaija, Blomqvist, Carl, Kallioniemi, Olli‐Pekka, Bartek, Jiri, Nevanlinna, Heli

“…Cell cycle checkpoint kinase 2 (CHEK2) is a transducer of cellular responses to DNA damage. The CHEK2 1100delC has previously been shown to be a low‐penetrance…”
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Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients by Kilpivaara, Outi, Bartkova, Jirina, Eerola, Hannaleena, Syrjäkoski, Kirsi, Vahteristo, Pia, Lukas, Jiri, Blomqvist, Carl, Holli, Kaija, Heikkilä, Päivi, Sauter, Guido, Kallioniemi, Olli‐Pekka, Bartek, Jiri, Nevanlinna, Heli

“…The CHEK2 kinase is a tumor suppressor whose activation in response to DNA double‐strand breaks contributes to cell cycle arrest or apoptosis. The c.1100delC…”
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A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes by ROZENBLUM, Ester, VAHTERISTO, Pia, GOLBERGER, Natalie, ROBBINS, Christiane, PAK, Evgenia, DUTRA, Amalia, GILLANDER, Elizabeth, STEPHAN, Dietrich A, BAILEY-WILSON, Joan, JUO, Suh-Hang Hank, KAINU, Tommi, ARASON, Adalgeir, SANDBERG, Therese, BARKARDOTTIR, Rosa Bjork, NEVANLINNA, Heli, BORG, Ake, KALLIONIEMI, Olli-P, BERGTHORSSON, Jon Thor, SYRJAKOSKI, Kirsi, WEAVER, Don, HARALDSSON, Karin, JOHANNSDOTTIR, Hrefna Kristin, VEHMANEN, Paula, NIGAM, Savita

“…Chromosomal region 13q21-q22 harbors a putative breast cancer susceptibility gene and has been implicated as a common site for somatic deletions in a variety…”
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