Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

PubWeight™: 2.93‹?› | Rank: Top 1%

🔗 View Article (PMID 23628597)

Published in J Natl Cancer Inst on April 29, 2013

Authors

Nasim Mavaddat1, Susan Peock, Debra Frost, Steve Ellis, Radka Platte, Elena Fineberg, D Gareth Evans, Louise Izatt, Rosalind A Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Shirley Hodgson, Lisa Walker, Mary E Porteous, Patrick J Morrison, Lucy E Side, M John Kennedy, Catherine Houghton, Alan Donaldson, Mark T Rogers, Huw Dorkins, Zosia Miedzybrodzka, Helen Gregory, Jacqueline Eason, Julian Barwell, Emma McCann, Alex Murray, Antonis C Antoniou, Douglas F Easton, EMBRACE

Author Affiliations

1: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Manchester, UK.

Articles citing this

(truncated to the top 100)

Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol (2014) 3.12

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A (2014) 1.95

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients. BMC Cancer (2015) 1.38

The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study. Br J Cancer (2016) 1.19

Breast cancer risks and risk prediction models. Breast Care (Basel) (2015) 1.07

Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat (2014) 1.03

Contralateral risk-reducing mastectomy: review of risk factors and risk-reducing strategies. Int J Surg Oncol (2015) 0.96

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory. PLoS One (2015) 0.96

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet (2015) 0.94

Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer (2016) 0.94

Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. J Natl Cancer Inst (2014) 0.93

Intensified surveillance for early detection of breast cancer in high-risk patients. Breast Care (Basel) (2015) 0.92

A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study. Carcinogenesis (2014) 0.89

A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study. Genet Med (2015) 0.89

BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet (2015) 0.88

Lobular breast cancer: incidence and genetic and non-genetic risk factors. Breast Cancer Res (2015) 0.88

Therapeutic targeting of BRCA1-mutated breast cancers with agents that activate DNA repair. Cancer Res (2014) 0.85

RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction. J Natl Cancer Inst (2015) 0.84

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. Oncogene (2015) 0.84

Opportunistic salpingectomy for ovarian cancer prevention. Gynecol Oncol Res Pract (2015) 0.84

Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer. Breast Cancer Res Treat (2015) 0.84

Autoimmune response to PARP and BRCA1/BRCA2 in cancer. Oncotarget (2015) 0.83

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol (2015) 0.82

Absence of BRCA/FMR1 correlations in women with ovarian cancers. PLoS One (2014) 0.80

Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population. Eur J Hum Genet (2014) 0.80

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics. Hum Mutat (2014) 0.80

New challenges for BRCA testing: a view from the diagnostic laboratory. Eur J Hum Genet (2016) 0.80

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study. J Med Genet (2016) 0.80

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic. Breast Cancer Res Treat (2015) 0.79

Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients. Oncogene (2015) 0.79

Identifying Needs: a Qualitative Study of women's Experiences Regarding Rapid Genetic Testing for Hereditary Breast and Ovarian Cancer in the DNA BONus Study. J Genet Couns (2016) 0.78

SEOM clinical guidelines in Hereditary Breast and ovarian cancer. Clin Transl Oncol (2015) 0.78

An epidemiological perspective of personalized medicine: the Estonian experience. J Intern Med (2015) 0.78

Drug repurposing screen identifies lestaurtinib amplifies the ability of the poly (ADP-ribose) polymerase 1 inhibitor AG14361 to kill breast cancer associated gene-1 mutant and wild type breast cancer cells. Breast Cancer Res (2014) 0.78

Decision-Making in the Surgical Treatment of Breast Cancer: Factors Influencing Women's Choices for Mastectomy and Breast Conserving Surgery. Front Oncol (2016) 0.78

The biological effects and clinical implications of BRCA mutations: where do we go from here? Eur J Hum Genet (2016) 0.78

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context. Sci Rep (2015) 0.77

Impact of Prophylactic Mastectomy in BRCA1/2 Mutation Carriers. Breast Care (Basel) (2014) 0.77

High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer. Breast Cancer Res Treat (2014) 0.77

Early salpingectomy (TUbectomy) with delayed oophorectomy to improve quality of life as alternative for risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers (TUBA study): a prospective non-randomised multicentre study. BMC Cancer (2015) 0.77

BRCA1/2 mutations perturb telomere biology: characterization of structural and functional abnormalities in vitro and in vivo. Oncotarget (2016) 0.77

Lifestyle intervention in BRCA1/2 mutation carriers: study protocol for a prospective, randomized, controlled clinical feasibility trial (LIBRE-1 study). Pilot Feasibility Stud (2016) 0.77

Defects in the Fanconi Anemia Pathway in Head and Neck Cancer Cells Stimulate Tumor Cell Invasion through DNA-PK and Rac1 Signaling. Clin Cancer Res (2015) 0.77

The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam Cancer (2016) 0.77

Cancer predisposition genes: molecular mechanisms and clinical impact on personalized cancer care: examples of Lynch and HBOC syndromes. Acta Pharmacol Sin (2015) 0.77

Optimizing recruitment to a prostate cancer surveillance program among male BRCA1 mutation carriers: invitation by mail or by telephone. Hered Cancer Clin Pract (2013) 0.77

Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK. Fam Cancer (2015) 0.77

The future of cancer research: prevention, screening, vaccines, and tumor-specific drug combos. Hum Vaccin Immunother (2013) 0.77

Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): study protocol for a randomized controlled trial. Trials (2016) 0.77

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations. Genet Med (2014) 0.76

Molding BRCA2 function through its interacting partners. Cell Cycle (2015) 0.76

Effect of lifestyle and reproductive factors on the onset of breast cancer in female BRCA 1 and 2 mutation carriers. Mol Genet Genomic Med (2015) 0.76

Plasma osteoprotegerin and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Oncotarget (2016) 0.76

Cost sharing and hereditary cancer risk: predictors of willingness-to-pay for genetic testing. J Genet Couns (2014) 0.76

Breast Cancer Survivorship Care: Targeting a Colorectal Cancer Education Intervention. J Pers Med (2015) 0.75

Risk-Reducing Strategies for Ovarian Cancer in BRCA Mutation Carriers: A Balancing Act. Oncologist (2017) 0.75

Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas. PLoS One (2016) 0.75

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat (2016) 0.75

BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency. J Turk Ger Gynecol Assoc (2016) 0.75

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. Int J Mol Sci (2017) 0.75

Association of -308G/A and -238G/A polymorphisms of TNF-α and osteosarcoma risk. Int J Clin Exp Pathol (2015) 0.75

The impact of rare and low-frequency genetic variants in common disease. Genome Biol (2017) 0.75

Tracking the dissemination of a culturally targeted brochure to promote awareness of hereditary breast and ovarian cancer among Black women. Patient Educ Couns (2016) 0.75

Proliferation and ovarian hormone signaling are impaired in normal breast tissues from women with BRCA1 mutations: benefit of a progesterone receptor modulator treatment as a breast cancer preventive strategy in women with inherited BRCA1 mutations. Oncotarget (2016) 0.75

Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up. J Clin Oncol (2016) 0.75

Repeated nipple fluid aspiration: compliance and feasibility results from a prospective multicenter study. PLoS One (2015) 0.75

Response. J Natl Cancer Inst (2015) 0.75

Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers. J Clin Oncol (2015) 0.75

Validation of the German version of the Mediterranean Diet Adherence Screener (MEDAS) questionnaire. BMC Cancer (2017) 0.75

Triple assessment is not necessary in most young women referred with breast symptoms. Ann R Coll Surg Engl (2015) 0.75

Surgical Treatment of Breast Cancer in BRCA-Mutation Carriers. J Breast Health (2013) (2015) 0.75

Finding all BRCA pathogenic mutation carriers: best practice models. Eur J Hum Genet (2016) 0.75

Information Topics of Greatest Interest for Return of Genome Sequencing Results among Women Diagnosed with Breast Cancer at a Young Age. J Genet Couns (2016) 0.75

Identification of recurrent BRCA1 mutation and its clinical relevance in Chinese Triple-negative breast cancer cohort. Cancer Med (2017) 0.75

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. J Natl Cancer Inst (2017) 0.75

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? Oncotarget (2016) 0.75

Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer. Hered Cancer Clin Pract (2017) 0.75

Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study. Hered Cancer Clin Pract (2016) 0.75

Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis. Case Rep Oncol (2016) 0.75

Commentary: Bilateral risk-reducing mastectomy is the safest strategy in BRCA1 carriers. Front Psychol (2017) 0.75

The effect of hormone therapy on quality of life and breast cancer risk after risk-reducing salpingo-oophorectomy: a systematic review. BMC Womens Health (2017) 0.75

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet (2017) 0.75

Breast cancer in Mongolia: an increasingly important health policy issue. Breast Cancer (Dove Med Press) (2017) 0.75

The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death. Front Cardiovasc Med (2016) 0.75

Contralateral prophylactic mastectomy: current perspectives. Int J Womens Health (2016) 0.75

Secondary Primary Malignancy Risk in Patients With Ovarian Cancer in Taiwan: A Nationwide Population-Based Study. Medicine (Baltimore) (2015) 0.75

Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer. Ann Surg Oncol (2016) 0.75

A prior diagnosis of breast cancer is a risk factor for breast cancer in BRCA1 and BRCA2 carriers. Curr Oncol (2014) 0.75

Prognostic significance of BRCA mutations in ovarian cancer: an updated systematic review with meta-analysis. Oncotarget (2016) 0.75

"It was an Emotional Baby": Previvors' Family Planning Decision-Making Styles about Hereditary Breast and Ovarian Cancer Risk. J Genet Couns (2017) 0.75

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. J Clin Oncol (2017) 0.75

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome. Mol Diagn Ther (2017) 0.75

Breast Cancer Risk Estimation and Personal Insurance: A Qualitative Study Presenting Perspectives from Canadian Patients and Decision Makers. Front Genet (2017) 0.75

Current condition of genetic medicine for hereditary breast cancer. Mol Clin Oncol (2017) 0.75

Genetics of endometrial cancer. Fam Cancer (2014) 0.75

When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges. J Genet Couns (2017) 0.75

Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment. Breast Cancer Res Treat (2017) 0.75

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer. BMC Med Genet (2017) 0.75

Articles by these authors

Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41

Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23

International network of cancer genome projects. Nature (2010) 20.35

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73

Multiple newly identified loci associated with prostate cancer susceptibility. Nat Genet (2008) 15.43

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet (2004) 14.31

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71

Polygenes, risk prediction, and targeted prevention of breast cancer. N Engl J Med (2008) 9.64

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet (2006) 9.17

Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93

Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet (2002) 8.89

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30

Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet (2006) 7.72

Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res (2005) 7.66

Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet (2010) 7.62

A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy. Cancer Res (2006) 6.91

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet (2011) 6.77

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer. Nat Genet (2005) 6.70

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet (2006) 6.67

Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst (2002) 6.58

Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study. Lancet Oncol (2011) 6.34

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol (2002) 6.16

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med (2010) 6.04

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04

Multiple loci with different cancer specificities within the 8q24 gene desert. J Natl Cancer Inst (2008) 5.82

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res (2005) 5.70

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58

Statistical analysis of pathogenicity of somatic mutations in cancer. Genetics (2006) 5.56

Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial. Lancet (2011) 5.29

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet (2006) 5.12

Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med (2006) 4.95

Polygenic inheritance of breast cancer: Implications for design of association studies. Genet Epidemiol (2003) 4.94

Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77

Lapatinib combined with letrozole versus letrozole and placebo as first-line therapy for postmenopausal hormone receptor-positive metastatic breast cancer. J Clin Oncol (2009) 4.69

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet (2004) 4.61

Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat Genet (2009) 4.38

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2006) 4.23

Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Nat Med (2003) 4.04

Educating health-care professionals about genetics and genomics. Nat Rev Genet (2007) 4.04

Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat Genet (2009) 3.94

Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst (2010) 3.94

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA (2012) 3.85