Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

PubWeight™: 1.23‹?› | Rank: Top 10%

🔗 View Article (PMC 3186026)

Published in J Community Genet on March 02, 2011

Authors

Dorothea Gadzicki1, D Gareth Evans, Hilary Harris, Claire Julian-Reynier, Irmgard Nippert, Jörg Schmidtke, Aad Tibben, Christi J van Asperen, Brigitte Schlegelberger

Author Affiliations

1: Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany, gadzicki.dorothea@mh-hannover.de.

Articles citing this

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. Br J Cancer (2012) 1.24

High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer. Fam Cancer (2012) 1.02

Description of selected characteristics of familial glioma patients - results from the Gliogene Consortium. Eur J Cancer (2013) 0.94

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

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 (2013) 0.90

BRCA2 mutations and triple-negative breast cancer. PLoS One (2012) 0.89

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer. Fam Cancer (2017) 0.84

Effectiveness of oncogenetics training on general practitioners' consultation skills: a randomized controlled trial. Genet Med (2013) 0.82

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities. J Community Genet (2013) 0.81

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 Comparison of Fresh Frozen vs. Formalin-Fixed, Paraffin-Embedded Specimens of Canine Mammary Tumors via Branched-DNA Assay. Int J Mol Sci (2016) 0.79

Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer. J Cancer Res Clin Oncol (2015) 0.79

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. Fam Cancer (2012) 0.76

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

Multiplex Gene Expression Profiling of 16 Target Genes in Neoplastic and Non-Neoplastic Canine Mammary Tissues Using Branched-DNA Assay. Int J Mol Sci (2016) 0.75

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

Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea. BMC Med Genet (2017) 0.75

BRCA to the future: towards best testing practice in the era of personalised healthcare. Eur J Hum Genet (2016) 0.75

Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain). Fam Cancer (2014) 0.75

Emotional impact on the results of BRCA1 and BRCA2 genetic test: an observational retrospective study. Hered Cancer Clin Pract (2017) 0.75

Articles cited by this

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (1994) 36.53

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature (2005) 26.32

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature (2005) 19.13

Identification of the breast cancer susceptibility gene BRCA2. Nature (1996) 17.14

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science (2003) 13.19

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet (2010) 9.72

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

Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet (2001) 8.56

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. Lancet (2010) 8.41

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 (2005) 6.18

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

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48

A breast cancer prediction model incorporating familial and personal risk factors. Stat Med (2004) 5.30

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

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

Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer (1994) 4.37

The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer (2004) 4.06

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

Breast and ovarian cancer. N Engl J Med (2003) 3.84

Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol (2006) 3.73

Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet (2008) 3.40

A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet (2004) 3.10

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 (2008) 2.81

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet (2006) 2.68

Inherited susceptibility to common cancers. N Engl J Med (2008) 2.54

Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol (2006) 2.49

Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2009) 2.47

Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol (2004) 2.25

Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol (2010) 2.12

The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer (2009) 2.01

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90

Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat (2010) 1.83

Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet (2008) 1.82

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer (2002) 1.82

Risk prediction models for familial breast cancer. Future Oncol (2006) 1.68

Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol (2009) 1.62

How can quality of health care be safeguarded across the European Union? BMJ (2008) 1.53

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41

Major improvement in the efficacy of BRCA1 mutation screening using morphoclinical features of breast cancer. Cancer Res (2000) 1.29

The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers. Gynecol Oncol (2005) 1.27

Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. J Natl Cancer Inst (2010) 1.21

Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet (2009) 1.18

Testing for CHEK2 in the cancer genetics clinic: ready for prime time? Clin Genet (2010) 1.13

Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls. Cancer Epidemiol Biomarkers Prev (2009) 1.13

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer (2003) 1.10

Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose? Breast Cancer Res Treat (2008) 1.09

[Short version of the guideline "Early Detection of Breast Cancer in Germany"]. Z Arztl Fortbild Qualitatssich (2004) 1.03

[Counselling, genetic testing and prevention in women with hereditary breast- and ovarian cancer. Interdisciplinary recommendations of the consortium "Hereditary Breast- and Ovarian Cancer" of the German Cancer AiD]. Zentralbl Gynakol (2003) 0.90

2008 update of the guideline: early detection of breast cancer in Germany. J Cancer Res Clin Oncol (2008) 0.86

Histopathological criteria and selection algorithms for BRCA1 genetic testing. Cancer Genet Cytogenet (2009) 0.84

Risk assessment and genetic testing for ovarian cancer. AJR Am J Roentgenol (2010) 0.82

[BRCA1- and BRCA2- associated breast carcinomas]. Pathologe (2009) 0.79

[Cancer genetics: estimation of the needs of the population in France for the next ten years]. Bull Cancer (2009) 0.77

Articles by these authors

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

Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med (2008) 13.02

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

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

Oncogene-induced senescence as an initial barrier in lymphoma development. Nature (2005) 9.16

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

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

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

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

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

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

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

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

Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med (2010) 4.76

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

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

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

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. N Engl J Med (2008) 3.76

Clonal dominance of hematopoietic stem cells triggered by retroviral gene marking. Science (2005) 3.58

Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol (2008) 3.54

MRI breast screening in high-risk women: cancer detection and survival analysis. Breast Cancer Res Treat (2014) 3.46

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41

TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome. Blood (2011) 3.32

A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q. Blood (2011) 3.28

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet (2003) 3.24

Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia. J Clin Oncol (2011) 3.17

Tolerability-adapted imatinib 800 mg/d versus 400 mg/d versus 400 mg/d plus interferon-α in newly diagnosed chronic myeloid leukemia. J Clin Oncol (2011) 3.09

Allogeneic hematopoietic stem cell transplantation (allo SCT) for chronic myeloid leukemia in the imatinib era: evaluation of its impact within a subgroup of the randomized German CML Study IV. Blood (2009) 3.07

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst (2013) 2.93

Ninety-day oral toxicity studies on two genetically modified maize MON810 varieties in Wistar Han RCC rats (EU 7th Framework Programme project GRACE). Arch Toxicol (2014) 2.91

TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression. J Clin Oncol (2011) 2.88

High meningioma 1 (MN1) expression as a predictor for poor outcome in acute myeloid leukemia with normal cytogenetics. Blood (2006) 2.87

Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol (2013) 2.71

Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2005) 2.70

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood (2012) 2.69

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ (2012) 2.44

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39

Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor. J Clin Oncol (2010) 2.38

A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35

Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol (2011) 2.26

Single nucleotide polymorphism in the mutational hotspot of WT1 predicts a favorable outcome in patients with cytogenetically normal acute myeloid leukemia. J Clin Oncol (2009) 2.23

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13

RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol (2011) 2.11

Persistent malignant stem cells in del(5q) myelodysplasia in remission. N Engl J Med (2010) 2.11

Breast carcinoma during pregnancy. International recommendations from an expert meeting. Cancer (2006) 2.04

Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Sci Transl Med (2014) 2.00

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res (2014) 1.97

Exonuclease-1 deletion impairs DNA damage signaling and prolongs lifespan of telomere-dysfunctional mice. Cell (2007) 1.96

The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML. Blood (2010) 1.96

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood (2006) 1.93

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat (2006) 1.93

Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule. J Clin Oncol (2012) 1.90

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88

The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res (2005) 1.84

Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int J Cancer (2007) 1.84

Breast cancer susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet (2008) 1.82

Leukemias following retroviral transfer of multidrug resistance 1 (MDR1) are driven by combinatorial insertional mutagenesis. Blood (2005) 1.82

Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group. J Clin Oncol (2011) 1.79

Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res (2006) 1.77

Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet (2012) 1.76

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A (2013) 1.72

A pilot study of compositional analysis of the breast and estimation of breast mammographic density using three-dimensional T1-weighted magnetic resonance imaging. Cancer Epidemiol Biomarkers Prev (2008) 1.70

Satisfaction with prophylactic mastectomy and breast reconstruction in genetically predisposed women. Plast Reconstr Surg (2006) 1.70

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective. Eur J Hum Genet (2003) 1.69

Outcome of high-risk acute myeloid leukemia after allogeneic hematopoietic cell transplantation: negative impact of abnl(17p) and -5/5q-. Blood (2012) 1.68

Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol (2003) 1.68

Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML Study IV. Blood (2011) 1.65

High EVI1 expression predicts outcome in younger adult patients with acute myeloid leukemia and is associated with distinct cytogenetic abnormalities. J Clin Oncol (2010) 1.64

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) (2011) 1.64

EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet (2008) 1.63

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet (2008) 1.63

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res (2003) 1.62

Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia. Blood (2013) 1.62

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet (2011) 1.57

Mass spectrometry for the detection of differentially expressed proteins: a comparison of surface-enhanced laser desorption/ionization and capillary electrophoresis/mass spectrometry. Rapid Commun Mass Spectrom (2004) 1.57

Perioperative outcome in adults undergoing elective deep hypothermic circulatory arrest with retrograde cerebral perfusion in proximal aortic arch repair: evaluation of protocol-based care. J Cardiothorac Vasc Anesth (2006) 1.57

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56

Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood (2010) 1.56

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet (2010) 1.54

Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2. J Med Genet (2013) 1.51

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51

The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders. Dtsch Arztebl Int (2008) 1.49

Morphologic dysplasia in de novo acute myeloid leukemia (AML) is related to unfavorable cytogenetics but has no independent prognostic relevance under the conditions of intensive induction therapy: results of a multiparameter analysis from the German AML Cooperative Group studies. J Clin Oncol (2003) 1.49

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1. J Community Genet (2010) 1.47

Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol (2012) 1.47

Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia. J Clin Oncol (2010) 1.46

The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. Cancer Res (2003) 1.44