Literature

  • Pharoah,P.D. et al. (2008) Polygenes, risk prediction, and targeted prevention of breast cancer. N. Engl. J. Med., 358, 2796-2803.
  • Couch,F.J., Nathanson,K.L. and Offit,K. (2014) Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention. Science, 343, 1466-1470.
  • Michailidou,K. et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature Genet., 45, 353-361.
  • Spurdle,A.B. et al. (2012) ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes. Hum Mutat, 33, 2-7.
  • Southey,M.C. et al. (2013) COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res., 15, 402.
  • Antoniou,A.C. et al. (2008) Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics. J Med Genet, 45, 425-431.
  • MacInnis,R.J. et al. (2013) Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre. Br. J. Cancer, 109, 1296-1301.
  • Riley,B.D. et al. (2012) Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns., 21, 151-161.
  • Smith,R.A. et al. (2014) Cancer screening in the United States, 2014: a review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin., 64, 30-51.
  • Kurian,A.W. et al. (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol., 32, 2001-2009.
  • Eijzenga,W. et al. (2014) Specific psychosocial issues of individuals undergoing genetic counseling for cancer – a literature review. J Genet Couns., 23, 133-146.
  • Power,T.E. et al. (2011) Distress and psychosocial needs of a heterogeneous high risk familial cancer population. J Genet Couns., 20, 249-269.
  • Spurdle,A.B. et al. (2012) BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet, 49, 525-532.
  • Lee,S.B. et al. (2001) Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res., 61, 8062-8067.
  • Easton,D. et al. (2004) CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet, 74, 1175-1182.
  • Vroling,B. et al. (2012) NucleaRDB: information system for nuclear receptors. Nucleic Acids Res., 40, D377-D380.
  • Guidugli,L. et al. (2013) A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity. Cancer Res., 73, 265-275.
  • Spurdle,A.B. (2010) Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models. Curr. Opin. Genet Dev., 20, 315-323.
  • Plon,S.E. et al. (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat., 29, 1282-1291.
  • Lindor,N.M. et al. (2012) A Review of a Multifactorial Probability-Based Model for Classification of BRCA1 and BRCA2 Variants of Uncertain Significance (VUS). Hum Mutat, 33, 8-21.
  • Easton,D.F. et al. (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am. J. Hum. Genet., 81, 873-883.
  • Thompson,B.A. et al. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet., 46, 107-115.
  • Damiola,F. et al. (2014) Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res., 16, R58.
  • Antoniou,A.C. and Easton,D.F. (2003) Polygenic inheritance of breast cancer: Implications for design of association studies. Genet. Epidemiol., 25, 190-202.
  • Tavtigian,S.V. et al. (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J. Med. Genet., 43, 295-305.
  • Hicks,S. et al. (2011) Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Hum Mutat., 32, 661-668.
  • Akbari,M.R. et al. (2011) Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. J Med Genet, 48, 783-786.
  • Kircher,M. et al. (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet., 46, 310-315.
  • Kilpivaara,O. et al. (2004) CHEK2 variant 1157T may be associated with increased breast cancer risk. Int. J. Cancer, 111, 543-547.
  • Goldgar,D.E. et al. (2011) Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res., 13, R73.
  • Rahman,N. et al. (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genet., 39, 165-167.
  • Antoniou,A.C. et al. (2014) Breast-cancer risk in families with mutations in PALB2. N. Engl. J Med., 371, 497-506.
  • Mavaddat,N. et al. (2010) Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res., 12.
  • Roy,R., Chun,J. and Powell,S.N. (2012) BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nature Reviews Cancer, 12, 68-78.
  • Millot,G.A. et al. (2012) A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat, 33, 1526-1537.
  • Bouwman,P. et al. (2013) A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants. Cancer Discovery, 3, 1142-1155.
  • Guidugli,L. et al. (2014) Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2. Hum Mutat., 35, 151-164.
  • Balmana,J. et al. (2011) Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers. Cancer Discov., 1, 29-34.
  • Jasin,M. and Rothstein,R. (2013) Repair of strand breaks by homologous recombination. Cold Spring Harb. Perspect. Biol., 5, a012740.
  • Mimitou,E.P. and Symington,L.S. (2009) Nucleases and helicases take center stage in homologous recombination. Trends Biochem. Sci., 34, 264-272.
  • Suwaki,N., Klare,K. and Tarsounas,M. (2011) RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis. Semin. Cell Dev. Biol., 22, 898-905.
  • Spurdle,A.B. et al. (2008) Prediction and assessment of splicing alterations: implications for clinical testing. Hum. Mutat., 29, 1304-1313.
  • Vreeswijk,M.P.G. et al. (2009) Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. Hum. Mutat., 30, 107-114.
  • Vreeswijk,M.P. and van der Klift,H.M. (2012) Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders. Methods Mol. Biol., 867, 49-63.
  • de Garibay,G.R. et al. (2014) Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants. Hum Mutat, 35, 53-57.
  • Thomassen,M. et al. (2012) Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res Treatm, 132, 1009-1023.
  • Dosil,V. et al. (2010) Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C > T as a Case Study. Clin Chem, 56, 53-61.
  • Whiley,P.J. et al. (2014) Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem., 60, 341-352.
  • Mercer,T.R. et al. (2011) Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nat Biotechnol., 30, 99-104.
  • Colombo,M. et al. (2014) Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Hum Mol. Genet., 23, 3666-3680.
  • Walker,L.C. et al. (2013) Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. Hum Mutat., 34, 1424-1431.
  • Gaildrat,P. et al. (2010) Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. Methods Mol. Biol., 653, 249-257.
  • Whiley,P.J. et al. (2010) Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. Bmc Medical Genetics, 11.
  • Park,D.J. et al. (2012) Rare Mutations in XRCC2 Increase the Risk of Breast Cancer. Am J Hum Genet, 90, 734-739.
  • Hilbers,F.S. et al. (2012) Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet, 49, 618-620.
  • Puget,N., Knowlton,M. and Scully,R. (2005) Molecular analysis of sister chromatid recombination in mammalian cells. DNA Repair (Amst)., 4, 149-161.
  • Hurov,K.E., Cotta-Ramusino,C. and Elledge,S.J. (2010) A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability. Genes Dev., 24, 1939-1950.
  • Rantakari,P. et al. (2010) Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice. Hum. Mol. Genet., 19, 3021-3029.
  • Kuznetsov,S.G. et al. (2009) Loss of Rad51c leads to embryonic lethality and modulation of Trp53-dependent tumorigenesis in mice. Cancer Res., 69, 863-872.
  • Zhang,F. et al. (2009) PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response. Curr. Biol., 19, 524-529.
  • Badie,S. et al. (2009) RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation. J Cell Biol., 185, 587-600.
  • Huzarski,T. et al. (2013) Ten-Year Survival in Patients With BRCA1-Negative and BRCA1-Positive Breast Cancer. J Clin Oncol, 31, 3191-+.
  • Elwyn,G., Gray,J. and Clarke,A. (2000) Shared decision making and non-directiveness in genetic counselling. J Med Genet., 37, 135-138.
  • Stuckey,A. et al. (2014) Adherence Patterns to National Comprehensive Cancer Network Guidelines for Referral of Women With Breast Cancer to Genetics Professionals. Am J Clin Oncol., Apr 5. [Epub ahead of print].
  • Beitsch,P.D. and Whitworth,P.W. (2014) Can Breast Surgeons Provide Breast Cancer Genetic Testing? An American Society of Breast Surgeons Survey. Ann Surg. Oncol.
  • Hamilton,J.G., Lobel,M. and Moyer,A. (2009) Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychol., 28, 510-518.
  • Vos,J. et al. (2012) Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees’ perception, the medical impact by the pathogenic or uninformative BRCA1/2-result. Psychooncology., 21, 29-42.
  • Bredart,A. et al. (2013) Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition to cancer. Br. J Cancer., %19;108, 1012-1020.
  • Rosenberg,S.M. et al. (2013) Perceptions, knowledge, and satisfaction with contralateral prophylactic mastectomy among young women with breast cancer: a cross-sectional survey. Ann Intern. Med., 159, 373-381.
  • van,D.S. et al. (2009) The Distress Thermometer assessed in women at risk of developing hereditary breast cancer. Psychooncology., 18, 1080-1087.
  • Tabachnick,B.G. and Fidell,L.S. (2007) Experimental Designs Using ANOVA. Cengage Learning, Belmont, CA.
  • Johansson,I., Ringner,M. and Hedenfalk,I. (2013) The Landscape of Candidate Driver Genes Differs between Male and Female Breast Cancer. Plos One, 8.
  • Evans,D.G.R. et al. (2012) Assessing Individual Breast Cancer Risk within the UK National Health Service Breast Screening Program: A New Paradigm for Cancer Prevention. Cancer Prevention Research, 5, 943-951.
  • Finch,A.P.M. et al. (2014) Impact of Oophorectomy on Cancer Incidence and Mortality in Women With a BRCA1 or BRCA2 Mutation. J Clin Oncol, 32, 1547-1U43.
  • Evans,D.G.R. et al. (2009) Risk reducing mastectomy: outcomes in 10 European centres. J Med Genet, 46, 254-258.
  • Nazarali,S.A. and Narod,S.A. (2014) Tamoxifen for women at high risk of breast cancer. Breast Cancer (Dove. Med Press)., 6, 29-36.
  • Paci,E. et al. (2014) European Breast Cancer Service Screening Outcomes: A First Balance Sheet of the Benefits and Harms. Cancer Epidemiol Biomarkers Prev., 23, 1159-1163.
  • Independent UK Panel on Breast Cancer Screening et al. (2012) The benefits and harms of breast cancer screening: an independent review. Lancet, 380, 1778-1786.
  • Hall,P. and Easton,D. (2013) Breast cancer screening: time to target women at risk. Br. J Cancer., 108, 2202-2204.
  • Kriege,M. et al. (2004) Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N. Engl. J. Med., 351, 427-437.
  • Leach,M.O. et al. (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet, 365, 1769-1778.
  • Fokkema,I.F. et al. (2011) LOVD v.2.0: the next generation in gene variant databases. Hum Mutat., 32, 557-563.
  • Wu,M.C. et al. (2011) Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet., 89, 82-93.
  • Tyrer,J.P. et al. (2013) The admixture maximum likelihood test to test for association between rare variants and disease phenotypes. BMC Bioinformatics., 14, 177.
  • Schackmann,E.A. et al. (2013) Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation carriers. Fam. Cancer., 12, 65-73.
  • Easton,D. et al. (1993) Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families. Am. J. Hum. Genet., 52, 678-701.