Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families

por Vuorela, Mikko, Pylkäs, Katri, Winqvist, Robert
Publicado 2011

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families

por Haanpää, Maria, Pylkäs, Katri, Moilanen, Jukka S, Winqvist, Robert
Publicado 2013

Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer

por Tervasmäki, Anna, Winqvist, Robert, Jukkola-Vuorinen, Arja, Pylkäs, Katri
Publicado 2014

Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

por Pylkäs, Katri, Erkko, Hannele, Nikkilä, Jenni, Sólyom, Szilvia, Winqvist, Robert
Publicado 2008

Mutation analysis of the ATR gene in breast and ovarian cancer families

por Heikkinen, Katri, Mansikka, Virpi, Karppinen, Sanna-Maria, Rapakko, Katrin, Winqvist, Robert
Publicado 2005

Mutation analysis of the AATF gene in breast cancer families

por Haanpää, Maria, Reiman, Mervi, Nikkilä, Jenni, Erkko, Hannele, Pylkäs, Katri, Winqvist, Robert
Publicado 2009

Somatic mutation analysis of MYH11 in breast and prostate cancer

por Alhopuro, Pia, Karhu, Auli, Winqvist, Robert, Waltering, Kati, Visakorpi, Tapio, Aaltonen, Lauri A
Publicado 2008

Rare Copy Number Variants Observed in Hereditary Breast Cancer Cases Disrupt Genes in Estrogen Signaling and TP53 Tumor Suppression Network

por Pylkäs, Katri, Vuorela, Mikko, Otsukka, Meeri, Kallioniemi, Anne, Jukkola-Vuorinen, Arja, Winqvist, Robert
Publicado 2012

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

por Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri
Publicado 2019

Machine learning identifies interacting genetic variants contributing to breast cancer risk: A case study in Finnish cases and controls

por Behravan, Hamid, Hartikainen, Jaana M., Tengström, Maria, Pylkäs, Katri, Winqvist, Robert, Kosma, Veli–Matti, Mannermaa, Arto
Publicado 2018

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

por Mantere, Tuomo, Winqvist, Robert, Kauppila, Saila, Grip, Mervi, Jukkola-Vuorinen, Arja, Tervasmäki, Anna, Rapakko, Katrin, Pylkäs, Katri
Publicado 2016

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

por Kumpula, Timo A., Koivuluoma, Susanna, Soikkonen, Leila, Vorimo, Sandra, Moilanen, Jukka, Winqvist, Robert, Mantere, Tuomo, Kuismin, Outi, Pylkäs, Katri
Publicado 2023

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

por Kumpula, Timo, Tervasmäki, Anna, Mantere, Tuomo, Koivuluoma, Susanna, Huilaja, Laura, Tasanen, Kaisa, Winqvist, Robert, de Voer, Richarda M., Pylkäs, Katri
Publicado 2020

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

por Koivuluoma, Susanna, Vorimo, Sandra, Mattila, Tiina M., Tervasmäki, Anna, Kumpula, Timo, Kuismin, Outi, Winqvist, Robert, Moilanen, Jukka, Mantere, Tuomo, Pylkäs, Katri
Publicado 2022

Assessment of Targeted and Non-Targeted Responses in Cells Deficient in ATM Function following Exposure to Low and High Dose X-Rays

por Kiuru, Anne, Kämäräinen, Meerit, Heinävaara, Sirpa, Pylkäs, Katri, Chapman, Kim, Koivistoinen, Armi, Parviainen, Teuvo, Winqvist, Robert, Kadhim, Munira, Launonen, Virpi, Lindholm, Carita
Publicado 2014

Heterozygous mutations in PALB2 cause DNA replication and damage response defects

por Nikkilä, Jenni, Christin Parplys, Ann, Pylkäs, Katri, Bose, Muthiah, Huo, Yanying, Borgmann, Kerstin, Rapakko, Katrin, Nieminen, Pentti, Xia, Bing, Pospiech, Helmut, Winqvist, Robert
Publicado 2013

ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways—lessons from breast cancer patients

por Sachsenweger, Juliane, Jansche, Rebecca, Merk, Tatjana, Heitmeir, Benedikt, Deniz, Miriam, Faust, Ulrike, Roggia, Cristiana, Tzschach, Andreas, Schroeder, Christopher, Riess, Angelika, Pospiech, Helmut, Peltoketo, Hellevi, Pylkäs, Katri, Winqvist, Robert, Wiesmüller, Lisa
Publicado 2023

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

por Kumpula, Timo A., Vorimo, Sandra, Mattila, Taneli T., O’Gorman, Luke, Astuti, Galuh, Tervasmäki, Anna, Koivuluoma, Susanna, Mattila, Tiina M., Grip, Mervi, Winqvist, Robert, Kuismin, Outi, Moilanen, Jukka, Hoischen, Alexander, Gilissen, Christian, Mantere, Tuomo, Pylkäs, Katri
Publicado 2023

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

por Kiiski, Johanna I., Fagerholm, Rainer, Tervasmäki, Anna, Pelttari, Liisa M., Khan, Sofia, Jamshidi, Maral, Mantere, Tuomo, Pylkäs, Katri, Bartek, Jiri, Bartkova, Jirina, Mannermaa, Arto, Tengström, Maria, Kosma, Veli‐Matti, Winqvist, Robert, Kallioniemi, Anne, Aittomäki, Kristiina, Blomqvist, Carl, Nevanlinna, Heli
Publicado 2016

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

por Kiiski, Johanna I., Tervasmäki, Anna, Pelttari, Liisa M., Khan, Sofia, Mantere, Tuomo, Pylkäs, Katri, Mannermaa, Arto, Tengström, Maria, Kvist, Anders, Borg, Åke, Kosma, Veli-Matti, Kallioniemi, Anne, Schleutker, Johanna, Bützow, Ralf, Blomqvist, Carl, Aittomäki, Kristiina, Winqvist, Robert, Nevanlinna, Heli
Publicado 2017