Gene-panel sequencing and the prediction of breast-cancer risk.

An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the data because of ascertainment bias and the lack of data from large populations.

[1]  D. Longo,et al.  Precision medicine--personalized, problematic, and promising. , 2015, The New England journal of medicine.

[2]  Heidi L Rehm,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[3]  Gail P Jarvik,et al.  The FDA and genomic tests--getting regulation right. , 2015, The New England journal of medicine.

[4]  Aniruddh Kashyap,et al.  Germline RECQL mutations are associated with breast cancer susceptibility , 2015, Nature Genetics.

[5]  Yuntao Xie,et al.  Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer , 2015, PLoS genetics.

[6]  Eric S. Lander,et al.  Cutting the Gordian helix--regulating genomic testing in the era of precision medicine. , 2015, The New England journal of medicine.

[7]  Thomas Brüning,et al.  Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors , 2015, International journal of cancer.

[8]  M. Goldacre,et al.  Age-specific risk of breast cancer in women with neurofibromatosis type 1 , 2015, British Journal of Cancer.

[9]  J. Sharfstein FDA regulation of laboratory-developed diagnostic tests: protect the public, advance the science. , 2015, JAMA.

[10]  F. Couch,et al.  Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer , 2014, Proceedings of the National Academy of Sciences.

[11]  G. Valk,et al.  Breast-cancer predisposition in multiple endocrine neoplasia type 1. , 2014, The New England journal of medicine.

[12]  T. Rebbeck,et al.  Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis. , 2014, Journal of the National Cancer Institute.

[13]  G. Chenevix-Trench,et al.  Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. , 2014, Biomarkers in medicine.

[14]  D. Easton,et al.  BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface , 2013, British Journal of Cancer.

[15]  W. Foulkes,et al.  Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.

[16]  J. Hopper,et al.  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 , 2014, Breast Cancer Research.

[17]  C. Compton,et al.  Breaking a Vicious Cycle , 2013, Science Translational Medicine.

[18]  Guofeng Zhang,et al.  Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk , 2013, Tumor Biology.

[19]  Diana Eccles,et al.  Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. , 2013, Journal of the National Cancer Institute.

[20]  Jaana M. Hartikainen,et al.  Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.

[21]  Patrick Neven,et al.  Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors , 2013, PLoS genetics.

[22]  V. Brouste,et al.  High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome , 2013, Journal of Medical Genetics.

[23]  Peter Donnelly,et al.  Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer , 2012, Nature.

[24]  Aung Ko Win,et al.  Risk of breast cancer in Lynch syndrome: a systematic review , 2013, Breast Cancer Research.

[25]  S. Cross,et al.  CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[26]  X. Ye,et al.  Increased risk of breast cancer in women with NF1 , 2012, American journal of medical genetics. Part A.

[27]  R. Tothill,et al.  Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles , 2012, PLoS genetics.

[28]  L. Aaltonen,et al.  A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer , 2012, Journal of Medical Genetics.

[29]  S. Seal,et al.  Germline RAD51C mutations confer susceptibility to ovarian cancer , 2012, Nature Genetics.

[30]  Daniel J. Park,et al.  Rare mutations in XRCC2 increase the risk of breast cancer. , 2012, American journal of human genetics.

[31]  J. Houwing-Duistermaat,et al.  MUTYH gene variants and breast cancer in a Dutch case–control study , 2012, Breast Cancer Research and Treatment.

[32]  C. Eng,et al.  Lifetime Cancer Risks in Individuals with Germline PTEN Mutations , 2012, Clinical Cancer Research.

[33]  Fergus J Couch,et al.  A review of a multifactorial probability‐based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) , 2012, Human mutation.

[34]  W. Jin,et al.  RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer , 2012, Breast Cancer Research and Treatment.

[35]  A. Gylfason,et al.  Mutations in BRIP1 confer high risk of ovarian cancer , 2011, Nature Genetics.

[36]  Deborah Hughes,et al.  Germline mutations in RAD51D confer susceptibility to ovarian cancer , 2011, Nature Genetics.

[37]  Peter Kraft,et al.  Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. , 2011, Journal of the National Cancer Institute.

[38]  J. Schleutker,et al.  RAD51C is a susceptibility gene for ovarian cancer. , 2011, Human molecular genetics.

[39]  P. Oefner,et al.  Rare variants in the ATM gene and risk of breast cancer , 2011, Breast Cancer Research.

[40]  J. Hopper,et al.  Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study , 2011, Breast Cancer Research.

[41]  D. Januszkiewicz-Lewandowska,et al.  RAD50 gene mutations are not likely a risk factor for breast cancer in Poland , 2010, Breast Cancer Research and Treatment.

[42]  A. Hollestelle,et al.  Discovering moderate-risk breast cancer susceptibility genes. , 2010, Current opinion in genetics & development.

[43]  S. Plon The Breast Cancer Susceptibility Mutation PALB2 1592delT Is Associated with an Aggressive Tumor Phenotype , 2010 .

[44]  H. Nevanlinna,et al.  Aberrations of the MRE11–RAD50–NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer‐predisposing gene , 2008, Molecular oncology.

[45]  A. Spurdle,et al.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results , 2008, Human mutation.

[46]  Peter Kraft,et al.  Curses--winner's and otherwise--in genetic epidemiology. , 2008, Epidemiology.

[47]  F. Couch,et al.  Common breast cancer predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers , 2008 .

[48]  L. Shulman,et al.  A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes , 2008 .

[49]  Giovanni Parmigiani,et al.  Meta-analysis of BRCA1 and BRCA2 penetrance. , 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[50]  Katri Pylkäs,et al.  A recurrent mutation in PALB2 in Finnish cancer families , 2007, Nature.

[51]  S. Seal,et al.  PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene , 2007, Nature Genetics.

[52]  Nazneen Rahman,et al.  ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles , 2006, Nature Genetics.

[53]  Päivi Heikkilä,et al.  Evaluation of RAD50 in familial breast cancer predisposition , 2006, International journal of cancer.

[54]  S. Gruber,et al.  Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome , 2006, Clinical Cancer Research.

[55]  Arto Mannermaa,et al.  RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. , 2005, Carcinogenesis.

[56]  A. Ashworth,et al.  Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study , 2005, The Lancet.

[57]  A. Børresen-Dale,et al.  Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia , 2005, British Journal of Cancer.

[58]  Lesley McGuffog,et al.  Cancer risks and mortality in heterozygous ATM mutation carriers. , 2005, Journal of the National Cancer Institute.

[59]  A. Whittemore,et al.  Breast Cancer Risks for BRCA1/2 Carriers , 2004, Science.

[60]  F. Couch,et al.  Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. , 2004, American journal of human genetics.

[61]  Päivi Heikkilä,et al.  CHEK2 variant I157T may be associated with increased breast cancer risk , 2004, International journal of cancer.

[62]  Nazneen Rahman,et al.  CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. , 2004, American journal of human genetics.

[63]  J. Hopper,et al.  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. , 2003, American journal of human genetics.

[64]  Shih-Jen Hwang,et al.  Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. , 2003, American journal of human genetics.

[65]  L. V. van't Veer,et al.  Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. , 2003, Cancer research.

[66]  The Polish Breast Cancer Consortium Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations , 2002 .

[67]  C Caldas,et al.  Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. , 2001, Gastroenterology.

[68]  D. Easton,et al.  Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. , 2001, American journal of human genetics.

[69]  A. Aurias,et al.  Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families , 1999, British Journal of Cancer.

[70]  J. Fraumeni,et al.  Multiple primary cancers in families with Li-Fraumeni syndrome. , 1998, Journal of the National Cancer Institute.

[71]  Jing Li,et al.  Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome , 1997, Nature Genetics.

[72]  L. Strong,et al.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. , 1990, Science.

[73]  J. Ferlay,et al.  Cancer Incidence in Five Continents , 1970, Union Internationale Contre Le Cancer / International Union against Cancer.