Published in Cancer Res on August 14, 2008
The molecular pathology of cancer. Nat Rev Clin Oncol (2010) 1.86
Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol (2012) 1.28
Genetics of breast cancer: a topic in evolution. Ann Oncol (2015) 1.15
Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma. Biochem Pharmacol (2010) 1.06
Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer (2014) 0.97
SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations. PLoS One (2013) 0.96
The KRAS-variant is associated with risk of developing double primary breast and ovarian cancer. PLoS One (2012) 0.95
Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population. Fam Cancer (2009) 0.91
Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer (2009) 0.89
Constructing narratives of heroism and villainy: case study of Myriad's BRACAnalysis(®) compared to Genentech's Herceptin(®). Genome Med (2013) 0.88
Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer. Iran J Public Health (2011) 0.85
Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea. Fam Cancer (2014) 0.84
Molecular testing in melanoma. Cancer J (2012) 0.83
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida. Cancer (2015) 0.82
The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays (Basel) (2015) 0.82
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients. BMC Cancer (2014) 0.82
Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age. Clin Genet (2015) 0.80
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer (2015) 0.79
BRCA sequencing and large rearrangement testing in young Black women with breast cancer. J Community Genet (2013) 0.77
How, who, and when: preferences for delivery of genome sequencing results among women diagnosed with breast cancer at a young age. Mol Genet Genomic Med (2016) 0.75
Health Behaviors and Associated Sociodemographic Factors in Cervical Cancer Survivors Compared with Matched Non-Cancer Controls. PLoS One (2016) 0.75
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes. J Exp Clin Cancer Res (2014) 0.75
Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients. Breast Cancer Res Treat (2017) 0.75
An unusual presentation of breast cancer in a very young woman. BMJ Case Rep (2011) 0.75
Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer. Mol Genet Genomic Med (2017) 0.75
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (1994) 36.53
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
Identification of the breast cancer susceptibility gene BRCA2. Nature (1996) 17.14
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med (1997) 13.96
Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med (2002) 7.84
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol (2002) 6.69
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
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
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2004) 5.38
Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med (2005) 4.66
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med (1997) 4.33
The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer (2004) 4.06
Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet (2001) 3.75
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
The genetic attributable risk of breast and ovarian cancer. Cancer (1996) 3.55
Proportion of breast cancer cases in the United States explained by well-established risk factors. J Natl Cancer Inst (1995) 3.03
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol (2006) 3.02
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
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
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet (2001) 2.19
Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev (2002) 2.10
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. Am J Hum Genet (2000) 1.95
An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet (1999) 1.52
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res (1997) 1.49
Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet (2002) 1.48
Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat (2005) 1.43
Breast cancer genes--what are the real risks? Nat Genet (1997) 1.38
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet (2000) 1.34
Assessing BRCA carrier probabilities in extended families. J Clin Oncol (2006) 1.30
Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet (2005) 1.29
Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet (2001) 1.26
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10. Genes Chromosomes Cancer (2000) 1.21
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet (2005) 1.12
Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families. Clin Genet (2004) 1.07
Large genomic deletions inactivate the BRCA2 gene in breast cancer families. J Med Genet (2005) 1.04
Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem (2006) 1.03
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer (2005) 1.01
Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat (2004) 1.00
The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet (2006) 1.00
A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. Hum Mutat (2002) 0.98
Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet (2006) 0.92
Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet (2006) 0.91
Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet (2001) 0.91
BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. Dis Markers (1999) 0.90
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene (2002) 0.89
BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol (2006) 0.84
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes Chromosomes Cancer (2006) 0.83
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations. BMC Med Genet (2006) 0.79
A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets. J Mol Diagn (2005) 0.79
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. Nature (2010) 16.12
The tuberous sclerosis complex. N Engl J Med (2006) 13.53
Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Cancer Cell (2010) 12.50
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
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet (2002) 9.71
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Genetic variation and cancer: improving the environment for publication of association studies. Cancer Epidemiol Biomarkers Prev (2004) 6.24
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
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
Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol (2007) 4.96
Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA (2005) 4.93
HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma. Cancer Cell (2008) 4.84
PTEN loss confers BRAF inhibitor resistance to melanoma cells through the suppression of BIM expression. Cancer Res (2011) 4.80
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nat Genet (2007) 4.69
Central nervous system metastases in women who receive trastuzumab-based therapy for metastatic breast carcinoma. Cancer (2003) 4.47
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst (2009) 3.89
Molecular Stratification of Clear Cell Renal Cell Carcinoma by Consensus Clustering Reveals Distinct Subtypes and Survival Patterns. Genes Cancer (2010) 3.78
Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst (2002) 3.65
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
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
Metastatic potential of melanomas defined by specific gene expression profiles with no BRAF signature. Pigment Cell Res (2006) 3.42
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Clinically relevant changes in family history of cancer over time. JAMA (2011) 3.18
Challenges and opportunities in cancer control in Africa: a perspective from the African Organisation for Research and Training in Cancer. Lancet Oncol (2013) 3.12
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol (2006) 3.02
Improvement of pathology in sub-Saharan Africa. Lancet Oncol (2013) 2.88
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet (2009) 2.85
Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. Nat Genet (2011) 2.70
The mitogen-activated protein/extracellular signal-regulated kinase kinase inhibitor AZD6244 (ARRY-142886) induces growth arrest in melanoma cells and tumor regression when combined with docetaxel. Clin Cancer Res (2008) 2.64
Transforming epidemiology for 21st century medicine and public health. Cancer Epidemiol Biomarkers Prev (2013) 2.56
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
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Ann Surg Oncol (2013) 2.38
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer (2006) 2.35
Sun exposure and melanoma risk at different latitudes: a pooled analysis of 5700 cases and 7216 controls. Int J Epidemiol (2009) 2.32
Genome-wide linkage screen for testicular germ cell tumour susceptibility loci. Hum Mol Genet (2006) 2.23
CD25 blockade depletes and selectively reprograms regulatory T cells in concert with immunotherapy in cancer patients. Sci Transl Med (2012) 2.22
Application of breast cancer risk prediction models in clinical practice. J Clin Oncol (2003) 2.19
Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study. Radiology (2007) 2.18
Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. Am J Epidemiol (2009) 2.15
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst (2005) 2.10
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing. Clin Cancer Res (2011) 2.09
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol (2011) 2.02
Type I and II endometrial cancers: have they different risk factors? J Clin Oncol (2013) 2.01
Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers. Cell (2012) 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
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet (2010) 1.98
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
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med (2010) 1.90
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res (2007) 1.89
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas. Mol Cancer Ther (2008) 1.86
Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma. J Mol Diagn (2007) 1.85
Measurements of tumor cell autophagy predict invasiveness, resistance to chemotherapy, and survival in melanoma. Clin Cancer Res (2011) 1.84
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet (2013) 1.82
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res (2006) 1.80
A design for cancer case-control studies using only incident cases: experience with the GEM study of melanoma. Int J Epidemiol (2006) 1.80
Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans. Proc Natl Acad Sci U S A (2009) 1.79
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat Genet (2013) 1.74
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail (2009) 1.74
Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science (2014) 1.74
The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred. Urol Oncol (2009) 1.70
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns (2004) 1.69
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation (2010) 1.67
A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet (2002) 1.63
Validation of genome-wide prostate cancer associations in men of African descent. Cancer Epidemiol Biomarkers Prev (2010) 1.62
The good news about cancer in developing countries--pathology answers the call. Lancet (2012) 1.61
HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses. Proc Natl Acad Sci U S A (2009) 1.59
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet (2003) 1.58
Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst (2003) 1.58
Genetic subgrouping of melanoma reveals new opportunities for targeted therapy. Cancer Res (2009) 1.57
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci (2010) 1.52
The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. Cancer Epidemiol Biomarkers Prev (2006) 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
A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes. Int J Cancer (2009) 1.51