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1. 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 of the United States of America, ISSN 0027-8424, 10/2014, Volume 111, Issue 42, pp. 15172 - 15177
Inherited predisposition to breast cancer is known to be caused by loss-of-function mutations in BRCA1, BRCA2, PALB2, CHEK2, and other genes involved in DNA... 
Exome | Proteins | DNA | Alleles | Breast cancer | Population control | Genetic mutation | Sequencing | DNA repair | Ovarian cancer | FANCM | Exome sequencing | Triple-negative breast cancer | INHERITED SUSCEPTIBILITY | triple-negative breast cancer | MULTIDISCIPLINARY SCIENCES | breast cancer | RISK | LOCI | VARIANT | exome sequencing | FAMILIES | MUTATION | MOLECULAR PATHOGENESIS | COMMON | 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 | Biological Sciences
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2. Full Text RAD51B in familial breast cancer
by Pelttari, Liisa M and Khan, Sofia and Vuorela, Mikko and Kiiski, Johanna I and Vilske, Sara and Nevanlinna, Viivi and Ranta, Salla and Schleutker, Johanna and Winqvist, Robert and Kallioniemi, Anne and Dörk, Thilo and Bogdanova, Natalia V and Figueroa, Jonine and Pharoah, Paul D. P and Schmidt, Marjanka K and Dunning, Alison M and García-Closas, Montserrat and Bolla, Manjeet K and Dennis, Joe and Michailidou, Kyriaki and Wang, Qin and Hopper, John L and Southey, Melissa C and Rosenberg, Efraim H and Fasching, Peter A and Beckmann, Matthias W and Peto, Julian and Dos-Santos-silva, Isabel and Sawyer, Elinor J and Tomlinson, Ian and Burwinkel, Barbara and Surowy, Harald and Guénel, Pascal and Truong, Thérèse and Bojesen, Stig E and Nordestgaard, Børge G and Benitez, Javier and González-Neira, Anna and Neuhausen, Susan L and Anton-Culver, Hoda and Brenner, Hermann and Arndt, Volker and Meindl, Alfons and Schmutzler, Rita K and Brauch, Hiltrud and Brüning, Thomas and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and Hartikainen, Jaana M and Chenevix-Trench, Georgia and Van Dyck, Laurien and Janssen, Hilde and Chang-Claude, Jenny and Rudolph, Anja and Radice, Paolo and Peterlongo, Paolo and Hallberg, Emily and Olson, Janet E and Giles, Graham G and Milne, Roger L and Haiman, Christopher A and Schumacher, Fredrick and Simard, Jacques and Dumont, Martine and Kristensen, Vessela and Borresen-Dale, Anne-Lise and Zheng, Wei and Beeghly-Fadiel, Alicia and Grip, Mervi and Andrulis, Irene L and Glendon, Gord and Devilee, Peter and Seynaeve, Caroline and Hooning, Maartje J and Collée, Margriet and Cox, Angela and Cross, Simon S and Shah, Mitul and Luben, Robert N and Hamann, Ute and Torres, Diana and Jakubowska, Anna and Lubinski, Jan and Couch, Fergus J and Yannoukakos, Drakoulis and Orr, Nick and Swerdlow, Anthony and Darabi, Hatef and Li, Jingmei and Czene, Kamila and Hall, Per and Easton, Douglas F and Mattson, Johanna and Blomqvist, Carl and Aittomäki, Kristiina and Nevanlinna, Heli and Aghmesheh, Morteza and Amor, David and Andrews, Lesley and ... and kConFab AOCS Investigators and kConFab/AOCS Investigators
PLoS ONE, ISSN 1932-6203, 2016, Volume 11, Issue 5, p. e0153788
Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and... 
ALLELES | COMPLEX | GENE | VARIANTS | XRCC2 | MULTIDISCIPLINARY SCIENCES | GERMLINE MUTATIONS | CONFER SUSCEPTIBILITY | OVARIAN | RISK | GENOME-WIDE ASSOCIATION | DNA-Binding Proteins - physiology | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Breast Neoplasms - etiology | Male | Mutation, Missense | DNA-Binding Proteins - genetics | Genotyping Techniques | Haplotypes - genetics | Breast Neoplasms - genetics | Finland | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Breast cancer | Research | Health aspects | Rad51 proteins | Haplotypes | Laboratories | Health risks | Risk | Patients | Ovarian cancer | Consortia | Confidence intervals | Missense mutation | Alleles | Breast | Mutation | Cancer
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3. 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
Mutations in BRCA1 and BRCA2 genes predispose to breast and ovarian cancer (BC/OC) with a high lifetime risk, whereas mutations in PALB2 , CHEK2 , ATM , FANCM... 
moderate‐risk gene | double heterozygote | breast cancer | ovarian cancer | CHEK2 | BRCA2 MUTATIONS | FANCM | FAMILY-HISTORY | RAD51C | GENE | ONCOLOGY | PREDISPOSITION | CONFER SUSCEPTIBILITY | ATM | moderate-risk gene | C.5791C-GREATER-THAN-T | 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 | Mutation | Health risk assessment | Cancer Genetics and Epigenetics
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4. 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
► Endogenous androgens have long been considered to be risk factors for prostate cancer. ► Increasing data suggest that PCa develops through a variety of... 
Androgen signaling pathway | Variant | Risk | Cancer etiology | Prostate cancer | Polymorphism | REPEAT LENGTH | RISK-FACTORS | CELL BIOLOGY | CYP3A4 GENETIC VARIANT | CLINICAL PRESENTATION | JAPANESE POPULATION | ALLELIC VARIANTS | SRD5A2 GENE | ENDOCRINOLOGY & METABOLISM | SINGLE NUCLEOTIDE POLYMORPHISM | RECEPTOR GENE | AFRICAN-AMERICAN MEN | 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
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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 and Onkologi och Patologi, MV and Familial Breast Cancer and Lund University and Oncology and Pathology, MV and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet and Familjär bröstcancer
Breast Cancer Research and Treatment, ISSN 0167-6806, 11/2017, Volume 166, Issue 1, pp. 217 - 226
The FANCM c.5101C>T nonsense mutation was previously found to associate with breast cancer in the Finnish population, especially among triple-negative cases.... 
Familial breast cancer | Medicine & Public Health | FANCM | Oncology | Breast cancer | DNA repair | Triple-negative breast cancer | BRCA2 MUTATIONS | FINLAND | COMPLEMENTATION GROUP M | VARIANT | OVARIAN-CARCINOMA | FEATURES | ONCOLOGY | FAMILIES | PROTEIN EXPRESSION | SUSCEPTIBILITY GENE | ANEMIA | 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 | Epidemiology | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
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6. Full Text Association analyses identify 31 new risk loci for colorectal cancer susceptibility
by Law, Philip J and Timofeeva, Maria and Fernandez-Rozadilla, Ceres and Broderick, Peter and Studd, James and Fernandez-Tajes, Juan and Farrington, Susan and Svinti, Victoria and Palles, Claire and Orlando, Giulia and Sud, Amit and Holroyd, Amy and Penegar, Steven and Theodoratou, Evropi and Vaughan-Shaw, Peter and Campbell, Harry and Zgaga, Lina and Hayward, Caroline and Campbell, Archie and Harris, Sarah and Deary, Ian J and Starr, John and Gatcombe, Laura and Pinna, Maria and Briggs, Sarah and Martin, Lynn and Jaeger, Emma and Sharma-Oates, Archana and East, James and Leedham, Simon and Arnold, Roland and Johnstone, Elaine and Wang, Haitao and Kerr, David and Kerr, Rachel and Maughan, Tim and Kaplan, Richard and Al-Tassan, Nada and Palin, Kimmo and Hänninen, Ulrika A and Cajuso, Tatiana and Tanskanen, Tomas and Kondelin, Johanna and Kaasinen, Eevi and Sarin, Antti-Pekka and Eriksson, Johan G and Rissanen, Harri and Knekt, Paul and Pukkala, Eero and Jousilahti, Pekka and Salomaa, Veikko and Ripatti, Samuli and Palotie, Aarno and Renkonen-Sinisalo, Laura and Lepistö, Anna and Böhm, Jan and Mecklin, Jukka-Pekka and Buchanan, Daniel D and Win, Aung-Ko and Hopper, John and Jenkins, Mark E and Lindor, Noralane M and Newcomb, Polly A and Gallinger, Steven and Duggan, David and Casey, Graham and Hoffmann, Per and Nöthen, Markus M and Jöckel, Karl-Heinz and Easton, Douglas F and Pharoah, Paul D. P and Peto, Julian and Canzian, Federico and Swerdlow, Anthony and Eeles, Rosalind A and Kote-Jarai, Zsofia and Muir, Kenneth and Pashayan, Nora and Henderson, Brian E and Haiman, Christopher A and Schumacher, Fredrick R and Al Olama, Ali Amin and Benlloch, Sara and Berndt, Sonja I and Conti, David V and Wiklund, Fredrik and Chanock, Stephen and Gapstur, Susan and Stevens, Victoria L and Tangen, Catherine M and Batra, Jyotsna and Clements, Judith and Gronberg, Henrik and Schleutker, Johanna and Albanes, Demetrius and Wolk, Alicja and West, Catharine and Mucci, Lorelei and Cancel-Tassin, Géraldine and Koutros, Stella and ... and PRACTICAL consortium and PRACTICAL Consortium and The PRACTICAL consortium
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 2154 - 15
Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of... 
COHORT PROFILE | TRANSCRIPTION FACTOR-BINDING | IMPUTATION | METAANALYSIS | GWAS | CHROMATIN | MULTIDISCIPLINARY SCIENCES | IDENTIFICATION | HERITABILITY | GENOME-WIDE ASSOCIATION | 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
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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
BackgroundRAD51D and RAD54L are involved in homologous recombination, and rare mutations in RAD51D were recently found in breast-ovarian cancer families. This... 
GERMLINE MUTATIONS | SUSCEPTIBILITY GENE | FINLAND | BRCA2 | GENETICS & HEREDITY | 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
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8. 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
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 877 - 885
The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and... 
FUNCTIONAL IMPACT | ANNOTATION | DISEASE | GENETICS & HEREDITY | CONSENSUS | FRAMEWORK | CONSEQUENCES | SEQUENCE VARIANTS | CLINVAR PUBLIC ARCHIVE | NONSYNONYMOUS SNVS | MUTATIONS | 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
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9. Full Text A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer
by Al Olama, Ali Amin and Kote-Jarai, Zsofia and Berndt, Sonja I and Conti, David V and Schumacher, Fredrick and Han, Ying and Benlloch, Sara and Hazelett, Dennis J and Wang, Zhaoming and Saunders, E and Leongamornlert, Daniel and Lindstrom, Sara and Jugurnauth-Little, Sara and Dadaev, Tokhir and Tymrakiewicz, Malgorzata and Stram, Daniel O and Rand, Kristin and Wan, Peggy and Stram, Alex and Sheng, Xin and Pooler, Loreall C and Park, Karen and Xia, Lucy and Tyrer, Jonathan and Kolonel, Laurence N and Le Marchand, Loic and Hoover, Robert N and Machiela, Mitchell J and Yeager, Merideth and Burdette, Laurie and Chung, Charles C and Hutchinson, Amy and Yu, Kai and Goh, Chee and Ahmed, Mahbubl and Govindasami, Koveela and Guy, Michelle and Tammela, Teuvo L J and Auvinen, Anssi and Wahlfors, Tiina and Schleutker, Johanna and Visakorpi, Tapio and Leinonen, Katri A and Xu, Jianfeng and Aly, Markus and Donovan, Jenny and Travis, Ruth C and Key, Tim J and Siddiq, Afshan and Canzian, Federico and Khaw, Kay-Tee and Takahashi, Atsushi and Kubo, Michiaki and Pharoah, Paul and Pashayan, Nora and Weischer, Maren and Nordestgaard, Borge G and Nielsen, Sune F and Klarskov, Peter and Røder, Martin Andreas and Iversen, Peter and Thibodeau, Stephen N and McDonnell, Shannon K and Schaid, Daniel J and Stanford, Janet L and Kolb, Suzanne and Holt, Sarah and Knudsen, Beatrice and Coll, Antonio Hurtado and Gapstur, Susan M and Diver, W Ryan and Stevens, Victoria L and Maier, Christiane and Luedeke, Manuel and Herkommer, Kathleen and Rinckleb, Antje E and Strom, Sara S and Pettaway, Curtis and Yeboah, Edward D and Tettey, Yao and Biritwum, Richard B and Adjei, Andrew A and Tay, Evelyn and Truelove, Ann and Niwa, Shelley and Chokkalingam, Anand P and Cannon-Albright, Lisa and Cybulski, Cezary and Wokołorczyk, Dominika and Kluźniak, Wojciech and Park, Jong and Sellers, Thomas and Lin, Hui-Yi and Isaacs, William B and Partin, Alan W and Brenner, Hermann and Dieffenbach, Aida Karina and Stegmaier, Christa and Chen, Constance and Giovannucci, Edward L and ... and Practical Prostate Canc Associatio and GAME-ON ELLIPSE Consortium and Breast Prostate Canc Cohort Consor and COGS Consortium and Breast and Prostate Cancer Cohort Consortium (BPC3) and GAME-ON/ELLIPSE Consortium and COGS (Collaborative Oncological Gene-environment Study) Consortium and PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium and The Breast and Prostate Cancer Cohort Consortium (BPC3) and The COGS (Collaborative Oncological Gene-environment Study) Consortium and The GAME-ON/ELLIPSE Consortium
Nature Genetics, ISSN 1061-4036, 09/2014, Volume 46, Issue 10, pp. 1103 - 1109
Genome-wide association studies (GWAS) have identified 76 variants associated with prostate cancer risk predominantly in populations of European ancestry. To... 
COMMON VARIANTS | GLIOMA | MEN | GENETICS & HEREDITY | RISK | JAPANESE | MYOSIN VI | 22Q13 | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Prostatic Neoplasms - genetics | Risk Assessment | Humans | Risk Factors | Genetic Loci - genetics | Genotype | Male | Polymorphism, Single Nucleotide | Quantitative trait loci | Genetic aspects | Prostate cancer | Identification and classification | Health aspects | Risk factors | Studies | Genealogy | Men | Genomes | Health risk assessment | Meta-analysis
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