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1. Full Text Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR‐103 target site
by Brewster, Brooke L and Rossiello, Francesca and French, Juliet D and Edwards, Stacey L and Wong, Ming and Wronski, Ania and Whiley, Phillip and Waddell, Nic and Chen, Xiaowei and Bove, Betsy and kConFab and Hopper, John L and John, Esther M and Andrulis, Irene and Daly, Mary and Volorio, Sara and Bernard, Loris and Peissel, Bernard and Manoukian, Siranoush and Barile, Monica and Pizzamiglio, Sara and Verderio, Paolo and Spurdle, Amanda B and Radice, Paolo and Godwin, Andrew K and Southey, Melissa C and Brown, Melissa A and Peterlongo, Paolo and kConFab
Human mutation, ISSN 1059-7794, 12/2012, Volume 33, Issue 12, pp. 1665 - 1675
microRNAs | breast cancer | BRCA1 | 3′UTR | Breast cancer | MicroRNAs | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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2. Full Text Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas
by Deb, Siddhartha and Jene, Nicholas and investigators, kConFab and Fox, Stephen B and kConFab Investigators and Kconfab Investigators
BMC cancer, ISSN 1471-2407, 11/2012, Volume 12, Issue 1, pp. 510 - 510
Micropapillary | BRCAX | BRCA1 | BRCA2 | Male breast cancer | Familial | Life Sciences & Biomedicine | Oncology | Science & Technology | Immunohistochemistry | Breast Neoplasms, Male - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Receptor, ErbB-2 - genetics | Humans | Middle Aged | Genotype | Male | Survival Rate | Breast Neoplasms, Male - metabolism | Phenotype | BRCA2 Protein - metabolism | Microarray Analysis | BRCA1 Protein - metabolism | Aged, 80 and over | Biomarkers, Tumor - metabolism | Genes, BRCA2 | Adult | Aged | Breast Neoplasms, Male - pathology | Genes, BRCA1 | Mutation | Cohort Studies | Gene mutations | BRCA mutations | Analysis | Tumor staging | Family | Breast cancer | Genetic aspects | Index Medicus
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3. Full Text Analysis of RAD51C germline mutations in high‐risk breast and ovarian cancer families and ovarian cancer patients
by Thompson, Ella R and Boyle, Samantha E and Johnson, Julie and Ryland, Georgina L and Sawyer, Sarah and Choong, David Y.H and kConFab and Chenevix‐Trench, Georgia and Trainer, Alison H and Lindeman, Geoffrey J and Mitchell, Gillian and James, Paul A and Campbell, Ian G and KConFab
Human mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 95 - 99
cancer predisposition | breast cancer | RAD51C | ovarian cancer | Breast cancer | Cancer predisposition | Ovarian cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genetic Testing | Comorbidity | Gene Frequency | Humans | Middle Aged | Risk Factors | Penetrance | Mutation, Missense | DNA-Binding Proteins - genetics | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | DNA Mutational Analysis | Pedigree | Germ-Line Mutation | Adult | Female | Index Medicus
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4. Full Text Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
by Li, Jun and Meeks, Huong and Feng, Bing-Jian and Healey, Sue and Thorne, Heather and Makunin, Igor and Ellis, Jonathan and Campbell, Ian and Southey, Melissa and Mitchell, Gillian and Clouston, David and Kirk, Judy and Goldgar, David and Chenevix-Trench, Georgia and KConFab Investigators and kConFab Investigators
Journal of medical genetics, ISSN 0022-2593, 01/2016, Volume 53, Issue 1, pp. 34 - 42
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Computational Biology - methods | Genetic Predisposition to Disease | Genetic Testing | Genetic Association Studies | Exons | Hereditary Breast and Ovarian Cancer Syndrome - diagnosis | Ovarian Neoplasms - diagnosis | Humans | Genotype | Male | Ovarian Neoplasms - genetics | Pedigree | Genes, BRCA2 | Germ-Line Mutation | Female | Biomarkers, Tumor - genetics | High-Throughput Nucleotide Sequencing | Genes, BRCA1 | Mutation | Odds Ratio | Usage | Gene mutations | Breast cancer | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Ovarian cancer | Index Medicus
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5. Full Text Patients' perspectives and experiences concerning barriers to accessing information about bilateral prophylactic mastectomy
by Glassey, Rachael and O'Connor, Moira and Ives, Angela and Saunders, Christobel and kConFab Investigators and O'Sullivan, Sarah and Hardcastle, Sarah J and KConFab Investigators
Breast (Edinburgh), ISSN 0960-9776, 08/2018, Volume 40, pp. 116 - 122
Information needs | Support needs | Prophylactic mastectomy | Information barriers | Oncology | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Surgery | Analysis | Index Medicus
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6. Full Text Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
by de la Hoya, Miguel and Soukarieh, Omar and López-Perolio, Irene and Vega, Ana and Walker, Logan C and van Ierland, Yvette and Baralle, Diana and Santamariña, Marta and Lattimore, Vanessa and Wijnen, Juul and Whiley, Philip and Blanco, Ana and Raponi, Michela and Hauke, Jan and Wappenschmidt, Barbara and Becker, Alexandra and Hansen, Thomas V.O and Behar, Raquel and KConFaB Investigators, Investigators and Niederacher, Diether and Arnold, Norbert and Dworniczak, Bernd and Steinemann, Doris and Faust, Ulrike and Rubinstein, Wendy and Hulick, Peter J and Houdayer, Claude and Caputo, Sandrine M and Castera, Laurent and Pesaran, Tina and Chao, Elizabeth and Brewer, Carole and Southey, Melissa C and van Asperen, Christi J and Singer, Christian F and Sullivan, Jan and Poplawski, Nicola and Mai, Phuong and Peto, Julian and Johnson, Nichola and Burwinkel, Barbara and Surowy, Harald and Bojesen, Stig E and Flyger, Henrik and Lindblom, Annika and Margolin, Sara and Chang-Claude, Jenny and Rudolph, Anja and Radice, Paolo and Galastri, Laura and Olson, Janet E and Hallberg, Emily and Giles, Graham G and Milne, Roger L and Andrulis, Irene L and Glendon, Gord and Hall, Per and Czene, Kamila and Blows, Fiona and Shah, Mitul and Wang, Qin and Dennis, Joe and Michailidou, Kyriaki and McGuffog, Lesley and Bolla, Manjeet K and Antoniou, Antonis C and Easton, Douglas F and Couch, Fergus J and Tavtigian, Sean and Vreeswijk, Maaike P and Parsons, Michael and Meeks, Huong D and Martins, Alexandra and Goldgar, David E and Spurdle, Amanda B and KConFaB Investigators
Human molecular genetics, ISSN 0964-6906, 06/2016, Volume 25, Issue 11, pp. 2256 - 2268
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | RNA Splice Sites - genetics | Alternative Splicing - genetics | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Ovarian Neoplasms - pathology | Exons - genetics | Mutation - genetics | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | DNA Mutational Analysis | RNA Splicing - genetics | Tumor Suppressor Proteins - genetics | Adult | Female | Aged | Index Medicus | Life Sciences | Medicin och hälsovetenskap
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7. Full Text Evaluation of Association Methods for Analysing Modifiers of Disease Risk in Carriers of High‐Risk Mutations
by Barnes, Daniel R and Lee, Andrew and Investigators, EMBRACE and Investigators, kConFab and Easton, Douglas F and Antoniou, Antonis C and kConFab Investigators and EMBRACE Investigators
Genetic epidemiology, ISSN 0741-0395, 04/2012, Volume 36, Issue 3, pp. 274 - 291
risk modifiers | weighted cohort | BRCA1 and BRCA2 | retrospective likelihood | simulation | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Genetic Testing | Risk Assessment | Humans | Middle Aged | Ovarian Neoplasms - genetics | Young Adult | BRCA1 Protein - genetics | Likelihood Functions | Breast Neoplasms - genetics | Computer Simulation | Adult | Female | Heterozygote | Aged | Models, Genetic | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Cohort Studies | Index Medicus
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8. Full Text Investigation of experimental factors that underlie BRCA1/2 mRNA isoform expression variation: Recommendations for utilizing targeted RNA sequencing to evaluate potential spliceogenic variants
by Lattimore, Vanessa L and Pearson, John F and Currie, Margaret J and Spurdle, Amanda B and Robinson, Bridget A and Walker, Logan C and KConFab Investigators and kConFab Investigators
Frontiers in oncology, ISSN 2234-943X, 05/2018, Volume 8, Issue MAY, pp. 140 - 140
Next-generation sequencing | Splicing | MRNA isoforms | BRCA1 | Quantitative | BRCA2 | MRNA | Targeted next-generation sequencing | Life Sciences & Biomedicine | Oncology | Science & Technology | Messenger RNA | Genetic variation | Genetic aspects | Gene expression | Health aspects | Carcinogenesis | Risk factors | targeted next-generation sequencing | mRNA isoforms | next-generation sequencing | quantitative | mRNA | splicing
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9. Full Text BRCA2 carriers with male breast cancer show elevated tumour methylation
by Deb, Siddhartha and Gorringe, Kylie L and Pang, Jia-Min B and Byrne, David J and Takano, Elena A and Investigators, Con Fab and Dobrovic, Alexander and Fox, Stephen B and kConFab Investigators
BMC cancer, ISSN 1471-2407, 09/2017, Volume 17, Issue 1, pp. 641 - 641
Promoter methylation | Familial breast cancer | BRCA1 | BRCA2 | Male breast cancer | Methylation | Life Sciences & Biomedicine | Oncology | Science & Technology | Breast Neoplasms, Male - genetics | Promoter Regions, Genetic | Humans | Middle Aged | Male | DNA Methylation - genetics | BRCA1 Protein - genetics | Twist-Related Protein 1 - genetics | Aged, 80 and over | Adult | Heterozygote | Aged | Breast Neoplasms, Male - pathology | Mutation | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | BRCA2 Protein - genetics | Care and treatment | Breast cancer | Prognosis | Patient outcomes | Analysis | Index Medicus
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