Hereditary Breast Cancer: The Era of New Susceptibility Genes
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[1] R. Eeles,et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. , 2003, Cancer research.
[2] P. Radice,et al. Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families , 2012, Familial Cancer.
[3] A. Spigelman,et al. Cancer and the Peutz-Jeghers syndrome. , 1989, Gut.
[4] W. Willett,et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1) , 2009, Nature Genetics.
[5] F. Saulnier,et al. Effect of ventilator-associated tracheobronchitis on outcome in patients without chronic respiratory failure: a case–control study , 2005, Critical care.
[6] S. Goodman,et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. , 2000, Gastroenterology.
[7] E. Seemanová,et al. Cancer risk of heterozygotes with the NBN founder mutation. , 2007, Journal of the National Cancer Institute.
[8] A. Whittemore,et al. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study , 2010, Breast Cancer Research.
[9] T. Walsh,et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. , 2001, JAMA.
[10] Franca Fraternali,et al. Mutation of the RAD51C gene in a Fanconi anemia–like disorder , 2010, Nature Genetics.
[11] A. W. van der Vaart,et al. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women , 2011, Journal of Medical Genetics.
[12] S. Gruber,et al. Relative frequency and morphology of cancers in STK11 mutation carriers. , 2004, Gastroenterology.
[13] E. Fishman,et al. Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study. , 2006, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[14] J. Fraumeni,et al. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. , 2001, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.
[15] R. Hruban,et al. Advances in counselling and surveillance of patients at risk for pancreatic cancer , 2007, Gut.
[16] P. Pharoah,et al. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history , 2003, The Lancet.
[17] F. Couch,et al. Rare variants in XRCC2 as breast cancer susceptibility alleles , 2012, Journal of Medical Genetics.
[18] S. Gruber,et al. Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome , 2006, Clinical Cancer Research.
[19] David J. Chen,et al. Evidence for Simultaneous Protein Interactions between Human Rad51 Paralogs* , 2000, The Journal of Biological Chemistry.
[20] D. Lane,et al. Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53. , 1994, British Journal of Cancer.
[21] 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.
[22] W. Foulkes,et al. Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families , 2012, British Journal of Cancer.
[23] M. Dąbrowska,et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients , 2010, BMC Medical Genetics.
[24] Arto Mannermaa,et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. , 2005, Carcinogenesis.
[25] Leif E. Peterson,et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[26] Daniel J. Park,et al. Rare mutations in XRCC2 increase the risk of breast cancer. , 2012, American journal of human genetics.
[27] B. Graveley. Sorting out the complexity of SR protein functions. , 2000, RNA.
[28] P. Møller,et al. Peutz–Jeghers syndrome: a systematic review and recommendations for management , 2010, Gut.
[29] F. Arwert,et al. The Cowden syndrome: a clinical and genetic study in 21 patients , 1986, Clinical genetics.
[30] Y. Labrie,et al. Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer , 2009, BMC Cancer.
[31] M. Polymeropoulos,et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. , 1998, Cancer research.
[32] W. Foulkes. BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis , 2005, Familial Cancer.
[33] T. Dörk,et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer , 2008, International journal of cancer.
[34] W. Heyer,et al. Regulation of homologous recombination in eukaryotes. , 2010, Annual review of genetics.
[35] R. Winqvist,et al. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility , 2003, Journal of medical genetics.
[36] D. Jong,et al. Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance , 2012, Familial Cancer.
[37] N. Camp,et al. A role for XRCC2 gene polymorphisms in breast cancer risk and survival , 2011, Journal of Medical Genetics.
[38] J. Struewing,et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation , 1998, The Lancet.
[39] A. Risch,et al. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations , 2013, Clinical genetics.
[40] S. Bojesen,et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[41] Lester L. Peters,et al. Genome-wide association study identifies novel breast cancer susceptibility loci , 2007, Nature.
[42] M. Wigler,et al. PTEN, a Putative Protein Tyrosine Phosphatase Gene Mutated in Human Brain, Breast, and Prostate Cancer , 1997, Science.
[43] F. Graziano,et al. The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice. , 2003, Annals of oncology : official journal of the European Society for Medical Oncology.
[44] B. Fernandez,et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. , 2007, JAMA.
[45] N. Aaronson,et al. Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits , 2010, Familial Cancer.
[46] W. Foulkes,et al. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria , 2004, Journal of Medical Genetics.
[47] J. Petrini,et al. Taking the time to make important decisions: the checkpoint effector kinases Chk1 and Chk2 and the DNA damage response. , 2009, DNA repair.
[48] J. Benítez,et al. Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. , 2012, Human molecular genetics.
[49] D. Allain. Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. , 2008, The Journal of molecular diagnostics : JMD.
[50] M. Swift,et al. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. , 1986, Journal of the National Cancer Institute.
[51] Rochelle L. Garcia,et al. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. , 2012, Gynecologic oncology.
[52] J. Heverhagen,et al. Five years of prospective screening of high-risk individuals from families with familial pancreatic cancer , 2009, Gut.
[53] C. Bonaïti‐pellié,et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals , 2000, British Journal of Cancer.
[54] R. Gatti,et al. Ataxia-telangiectasia, an evolving phenotype. , 2004, DNA repair.
[55] A. Krainer,et al. Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.
[56] J. Ferlay,et al. Estimates of cancer incidence and mortality in Europe in 2008. , 2010, European journal of cancer.
[57] W. Foulkes,et al. BRCA1 and BRCA2: 1994 and beyond , 2004, Nature Reviews Cancer.
[58] Alison P. Klein,et al. Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene , 2009, Science.
[59] E. Swisher,et al. Hereditary ovarian cancer: beyond the usual suspects. , 2012, Gynecologic oncology.
[60] S. Seal,et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene , 2007, Nature Genetics.
[61] Cancer predisposing BARD1 mutations in breast–ovarian cancer families , 2011, Breast Cancer Research and Treatment.
[62] E. Seemanová. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. , 1990, Mutation research.
[63] W. Willett,et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer , 2007, Nature Genetics.
[64] S. Singh,et al. Gall-bladder polyps in Peutz-Jeghers syndrome. , 1980, Postgraduate medical journal.
[65] Thomas Helleday,et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase , 2005, Nature.
[66] D. Yannoukakos,et al. Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients. , 2007, European journal of cancer.
[67] C. Begg,et al. Rare germline mutations in PALB2 and breast cancer risk: A population‐based study , 2012, Human mutation.
[68] Jaana M. Hartikainen,et al. A common coding variant in CASP8 is associated with breast cancer risk , 2007, Nature Genetics.
[69] 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.
[70] Katri Pylkäs,et al. Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions , 2012, Science Translational Medicine.
[71] K. Offit,et al. Hereditary cancer predisposition syndromes. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[72] A. Jakubowska,et al. A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland , 2007, Breast Cancer Research and Treatment.
[73] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[74] J. Schleutker,et al. RAD51C is a susceptibility gene for ovarian cancer. , 2011, Human molecular genetics.
[75] Deborah Hughes,et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer , 2011, Nature Genetics.
[76] 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.
[77] C. Eng. Role of PTEN, a Lipid Phosphatase Upstream Effector of Protein Kinase B, in Epithelial Thyroid Carcinogenesis , 2002, Annals of the New York Academy of Sciences.
[78] T. Walsh,et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. , 2006, JAMA.
[79] N Risch,et al. Genetic analysis of breast cancer in the cancer and steroid hormone study. , 1991, American journal of human genetics.
[80] K. Thornton,et al. Current Guidelines and Best Practice Evidence for Intensified/Enhanced Breast Cancer Screening in Women with BRCA Mutations , 2009 .
[81] Lesley McGuffog,et al. Cancer risks and mortality in heterozygous ATM mutation carriers. , 2005, Journal of the National Cancer Institute.
[82] N. Rahman,et al. ATM and breast cancer susceptibility , 2006, Oncogene.
[83] 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.
[84] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[85] Alfred A. Boyd,et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 , 1996, Nature Genetics.
[86] M. Yaffe,et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography , 2007, CA: a cancer journal for clinicians.
[87] J. Haines,et al. Genome-wide association study identifies a novel breast cancer susceptibility locus at 6q25.1 , 2009, Nature Genetics.
[88] M. Thun,et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2 , 2009, Nature Genetics.
[89] D. Wattendorf,et al. Translational advances regarding hereditary breast cancer syndromes , 2012, Journal of surgical oncology.
[90] B. Vogelstein,et al. BRCA1 and BRCA2 Genes , 2003 .
[91] S. Elledge,et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. , 2000, Genes & development.
[92] Susan L Neuhausen,et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[93] A Jakubowska,et al. Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations , 2008, Journal of Medical Genetics.
[94] M. King,et al. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[95] A. Ashworth,et al. The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability , 2006, Oncogene.
[96] Ron Brown,et al. The Henry Ford production system: LEAN process redesign improves service in the molecular diagnostic laboratory: a paper from the 2008 William Beaumont hospital symposium on molecular pathology. , 2009, The Journal of molecular diagnostics : JMD.
[97] B. Blencowe. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. , 2000, Trends in biochemical sciences.
[98] Robert T Abraham,et al. PI 3-kinase related kinases: 'big' players in stress-induced signaling pathways. , 2004, DNA repair.
[99] H. Höfler,et al. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. , 1999, The American journal of pathology.
[100] H. Olsson. Cancer risks in BRCA2 mutation carriers. , 1999, Journal of the National Cancer Institute.
[101] C. Eng. Will the real Cowden syndrome please stand up: revised diagnostic criteria , 2000, Journal of medical genetics.
[102] J. Lubiński,et al. CHEK2 is a multiorgan cancer susceptibility gene. , 2004, American journal of human genetics.
[103] D. Easton,et al. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. , 1996, Cancer research.
[104] F. Fostira,et al. Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study , 2012, Breast Cancer Research and Treatment.
[105] S. Gruber,et al. Clinical implications of founder and recurrent CDH1 mutations in hereditary diffuse gastric cancer. , 2007, JAMA.
[106] R F Phipps,et al. Familial breast cancer. , 1988, Postgraduate medical journal.
[107] M. King,et al. Response to DNA damage of CHEK2 missense mutations in familial breast cancer. , 2012, Human molecular genetics.
[108] Olufunmilayo I. Olopade,et al. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations , 2007, Nature Reviews Cancer.
[109] Nazneen Rahman,et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles , 2006, Nature Genetics.
[110] T. Walsh,et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing , 2010, Proceedings of the National Academy of Sciences.
[111] P. Mullis,et al. An exon splice enhancer mutation causes autosomal dominant GH deficiency. , 2002, The Journal of clinical endocrinology and metabolism.
[112] C. Lázaro,et al. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes , 2012, Breast Cancer Research and Treatment.
[113] Steven P Gygi,et al. Abraxas and RAP80 Form a BRCA1 Protein Complex Required for the DNA Damage Response , 2007, Science.
[114] E. Sensi,et al. Germline mutations of the BRCA1‐associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations , 2002, Genes, chromosomes & cancer.
[115] A. Spurdle,et al. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts , 2010, BMC Medical Genetics.
[116] J. Thacker,et al. The importance of XRCC2 in RAD51-related DNA damage repair. , 2010, DNA repair.
[117] L. Aaltonen,et al. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer , 2012, Journal of Medical Genetics.
[118] A. Børresen-Dale,et al. Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study , 2008, British Journal of Cancer.
[119] T. Walsh,et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. , 2011, Cancer research.
[120] M. Stratton,et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. , 1998, Journal of the National Cancer Institute.
[121] A J Krush,et al. Increased risk of cancer in the Peutz-Jeghers syndrome. , 1987, The New England journal of medicine.
[122] Victoria L. Cafourek,et al. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. , 2011, Journal of the National Cancer Institute.
[123] D. Yannoukakos,et al. Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients , 2008, Breast Cancer Research and Treatment.
[124] D. Huntsman,et al. E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells. , 2003, Human molecular genetics.
[125] A. Gylfason,et al. Mutations in BRIP1 confer high risk of ovarian cancer , 2011, Nature Genetics.
[126] J. Satagopan,et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. , 2002, The New England journal of medicine.
[127] M. King,et al. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. , 2001, Human molecular genetics.
[128] M. King,et al. Linkage of early-onset familial breast cancer to chromosome 17q21. , 1990, Science.
[129] S. Sommer,et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[130] Olufunmilayo I Olopade,et al. BRCA2 T2722R is a deleterious allele that causes exon skipping. , 2002, American journal of human genetics.
[131] K. Strauch,et al. PALB2 mutations in European familial pancreatic cancer families , 2010, Clinical genetics.
[132] Alan Ashworth,et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy , 2005, Nature.
[133] E. Kuipers,et al. High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations , 2010, The American Journal of Gastroenterology.