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1. Full Text Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients
by Nurmi, Anna and Muranen, Taru A and Pelttari, Liisa M and Kiiski, Johanna I and Heikkinen, Tuomas and Lehto, Sini and Kallioniemi, Anne and Schleutker, Johanna and Bützow, Ralf and Blomqvist, Carl and Aittomäki, Kristiina and Nevanlinna, Heli
International journal of cancer, ISSN 0020-7136, 11/2019, Volume 145, Issue 10, pp. 2692 - 2700
moderate‐risk gene | double heterozygote | breast cancer | ovarian cancer | CHEK2 | Life Sciences & Biomedicine | Oncology | Science & Technology | Medical History Taking | Risk Assessment - methods | Genetic Predisposition to Disease | Datasets as Topic | Prevalence | Humans | Middle Aged | Genetic Testing - methods | Case-Control Studies | Ovarian Neoplasms - epidemiology | Ovarian Neoplasms - genetics | Young Adult | Breast Neoplasms - genetics | Aged, 80 and over | Adult | Female | Heterozygote | Aged | Biomarkers, Tumor - genetics | Mutation | Finland - epidemiology | Breast Neoplasms - epidemiology | Cohort Studies | Care and treatment | Cancer patients | Anopheles | Gene mutations | Oncology, Experimental | Breast cancer | Genetic aspects | Research | Ovarian cancer | Cancer | BRCA2 protein | Ovarian carcinoma | BRCA1 protein | Genes | Health risks | Risk | Patients | Genotyping | Point mutation | Breast | Health risk assessment | Index Medicus | Cancer Genetics and Epigenetics
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2. Full Text Polymorphisms in androgen signaling pathway predisposing to prostate cancer
by Schleutker, Johanna
Molecular and cellular endocrinology, ISSN 0303-7207, 09/2012, Volume 360, Issue 1-2, pp. 25 - 37
Androgen signaling pathway | Variant | Risk | Cancer etiology | Prostate cancer | Polymorphism | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Sulfotransferases - genetics | Prostatic Neoplasms - metabolism | Genetic Predisposition to Disease | Humans | Sex Hormone-Binding Globulin - genetics | Testosterone - biosynthesis | Androgens - biosynthesis | Male | Hydroxysteroid Dehydrogenases - genetics | Glucuronosyltransferase - genetics | Testosterone - metabolism | Biosynthetic Pathways - genetics | Prostatic Neoplasms - genetics | Receptors, Androgen - genetics | Prostatic Neoplasms - enzymology | Polymorphism, Single Nucleotide | Androgens - metabolism | Steroid Hydroxylases - genetics | Enzymes | Pituitary hormones | Prostate-specific antigen | Genes | Cytochrome P-450 | Development and progression | Glycoproteins | Hormones | Risk factors | Prevention | Dehydroepiandrosterone | Androgens | Luteinizing hormone | Genetics | Genetic aspects | Hormones, Sex | Cancer | Index Medicus
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3. Full Text Association analyses identify 31 new risk loci for colorectal cancer susceptibility
by Law, P.J and Timofeeva, M and Fernandez-Rozadilla, C and Timofeeva, A and Broderick, P and Studd, J and Houlston, Richard and PRACTICAL Consortium and PRACTICAL consortium and The PRACTICAL consortium
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2154 - 2154
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Datasets as Topic | Colorectal Neoplasms - genetics | Humans | Middle Aged | Risk Factors | Asian Continental Ancestry Group - genetics | Male | Genetic Loci | Case-Control Studies | Inheritance Patterns | Female | Polymorphism, Single Nucleotide | Colorectal Neoplasms - pathology | Target recognition | Wnt protein | Identification methods | Genes | Colorectal carcinoma | Colorectal cancer | Health risks | Association analysis | Risk | Genomes | Single-nucleotide polymorphism | Gene expression | Loci | Annotations | Pathways | Cancer | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
by Johanna I. Kiiski and Liisa M. Pelttari and Sofia Khan and Edda S. Freysteinsdottir and Inga Reynisdottir and Steven N. Hart and Hermela Shimelis and Sara Vilske and Anne Kallioniemi and Johanna Schleutker and Arto Leminen and Ralf Bützow and Carl Blomqvist and Rosa B. Barkardottir and Fergus J. Couch and Kristiina Aittomäki and Heli Nevanlinna
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 10/2014, Volume 111, Issue 42, pp. 15172 - 15177
Exome | Proteins | DNA | Alleles | Breast cancer | Population control | Genetic mutation | Sequencing | DNA repair | Ovarian cancer | FANCM | Exome sequencing | Triple-negative breast cancer | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Predisposition to Disease | Risk Assessment | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Genotype | Codon, Nonsense | RNA, Messenger - metabolism | Case-Control Studies | Genetic Variation | Ovarian Neoplasms - genetics | Triple Negative Breast Neoplasms - genetics | Finland | Genes, BRCA2 | Female | Aged | Models, Genetic | Genes, BRCA1 | Mutation | Odds Ratio | DNA Helicases - genetics | Oncology, Experimental | Genetic research | Genetic aspects | Disease susceptibility | Research | Nucleotide sequencing | DNA sequencing | Cancer | Genomes | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences | breast cancer | exome sequencing | triple-negative breast cancer
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5. Full Text FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population
by Kiiski, Johanna I and Tervasmäki, Anna and Pelttari, Liisa M and Khan, Sofia and Mantere, Tuomo and Pylkäs, Katri and Mannermaa, Arto and Tengström, Maria and Kvist, Anders and Borg, Åke and Kosma, Veli-Matti and Kallioniemi, Anne and Schleutker, Johanna and Bützow, Ralf and Blomqvist, Carl and Aittomäki, Kristiina and Winqvist, Robert and Nevanlinna, Heli
Breast cancer research and treatment, ISSN 0167-6806, 11/2017, Volume 166, Issue 1, pp. 217 - 226
Familial breast cancer | Medicine & Public Health | FANCM | Oncology | Breast cancer | DNA repair | Triple-negative breast cancer | Life Sciences & Biomedicine | Science & Technology | Gene Duplication | Sequence Deletion | Genetic Predisposition to Disease | Risk Assessment | Gene Frequency | Humans | Risk Factors | Genotype | Case-Control Studies | Triple Negative Breast Neoplasms - genetics | DNA Repair | Alleles | Female | Mutation | Odds Ratio | DNA Helicases - genetics | Finland - epidemiology | Population Surveillance | Triple Negative Breast Neoplasms - epidemiology | Medical colleges | Genetic aspects | Disease susceptibility | Health aspects | Risk factors | Ovarian cancer | Index Medicus | Epidemiology
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6. Full Text REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
by Ioannidis, Nilah M and Rothstein, Joseph H and Pejaver, Vikas and Middha, Sumit and McDonnell, Shannon K and Baheti, Saurabh and Musolf, Anthony and Li, Qing and Holzinger, Emily and Karyadi, Danielle and Cannon-Albright, Lisa A and Teerlink, Craig C and Stanford, Janet L and Isaacs, William B and Xu, Jianfeng and Cooney, Kathleen A and Lange, Ethan M and Schleutker, Johanna and Carpten, John D and Powell, Isaac J and Cussenot, Olivier and Cancel-Tassin, Geraldine and Giles, Graham G and MacInnis, Robert J and Maier, Christiane and Hsieh, Chih-Lin and Wiklund, Fredrik and Catalona, William J and Foulkes, William D and Mandal, Diptasri and Eeles, Rosalind A and Kote-Jarai, Zsofia and Bustamante, Carlos D and Schaid, Daniel J and Hastie, Trevor and Ostrander, Elaine A and Bailey-Wilson, Joan E and Radivojac, Predrag and Thibodeau, Stephen N and Whittemore, Alice S and Sieh, Weiva
American journal of human genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 877 - 885
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Disease - genetics | Area Under Curve | DNA Mutational Analysis | Gene Frequency | Humans | ROC Curve | Software | Mutation, Missense - genetics | Technology application | Genetic code | Genetic variation | Health aspects | Genetic screening | Methods | Pathogens | Genetics | Mutation | Predictions | Index Medicus | Medicin och hälsovetenskap
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7. Full Text A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer
by Pelttari, Liisa M and Kiiski, Johanna and Nurminen, Riikka and Kallioniemi, Anne and Schleutker, Johanna and Gylfe, Alexandra and Aaltonen, Lauri A and Leminen, Arto and Heikkilä, Päivi and Blomqvist, Carl and Bützow, Ralf and Aittomäki, Kristiina and Nevanlinna, Heli
Journal of medical genetics, ISSN 0022-2593, 07/2012, Volume 49, Issue 7, pp. 429 - 432
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Gynecology. Andrology. Obstetrics | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Female genital diseases | Tumors | Haplotypes | Exons | Colorectal Neoplasms - genetics | Humans | Middle Aged | Homologous Recombination | Male | Case-Control Studies | DNA-Binding Proteins - metabolism | Genetic Variation | Ovarian Neoplasms - genetics | Founder Effect | Adult | Female | Nuclear Proteins - genetics | Breast Neoplasms - epidemiology | Colorectal Neoplasms - epidemiology | Genetic Predisposition to Disease | Risk Assessment | Nuclear Proteins - metabolism | DNA-Binding Proteins - genetics | Ovarian Neoplasms - epidemiology | DNA Helicases | Breast Neoplasms - genetics | Alleles | Heterozygote | Aged | Mutation | Finland - epidemiology | Care and treatment | Cancer patients | Colorectal cancer | Genotype | Diagnosis | Research | Health aspects | Index Medicus
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8. Full Text Polymorphisms in Genes Involved in Androgen Pathways as Risk Factors for Prostate Cancer
by Mononen, Nina and Schleutker, Johanna
The Journal of urology, ISSN 0022-5347, 2009, Volume 181, Issue 4, pp. 1541 - 1549
Urology | prostate | continental population groups | androgens | gene polymorphisms | prostatic neoplasms | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Tumors of the urinary system | Urinary tract. Prostate gland | Gynecology. Andrology. Obstetrics | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Male genital diseases | Tumors | Androgens - physiology | Prostatic Neoplasms - genetics | Humans | Risk Factors | Male | Receptors, Androgen - physiology | Polymorphism, Genetic | Pituitary hormones | Prostate-specific antigen | Cytochrome P-450 | Glycoproteins | Peptide hormones | Risk factors | Dehydroepiandrosterone | Androgens | Luteinizing hormone | Genetic aspects | Health aspects | Prostate cancer | Cancer | Index Medicus | Abridged Index Medicus
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