Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients

[1]  Fergus J Couch,et al.  A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. , 2007, American journal of human genetics.

[2]  S. Henikoff,et al.  Predicting the effects of amino acid substitutions on protein function. , 2006, Annual review of genomics and human genetics.

[3]  L. Bernstein,et al.  Hormone-related risk factors for breast cancer in women under age 50 years by estrogen and progesterone receptor status: results from a case–control and a case–case comparison , 2006, Breast Cancer Research.

[4]  J. Hopper,et al.  Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. , 2006, Cancer research.

[5]  A. Zharkikh,et al.  Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral , 2005, Journal of Medical Genetics.

[6]  M. Stanhope,et al.  Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans , 2006, Mammalian Genome.

[7]  F. Barany,et al.  Classification of BRCA1 missense variants of unknown clinical significance , 2005, Journal of Medical Genetics.

[8]  S. Tavtigian,et al.  An Analysis of Unclassified Missense Substitutions in Human BRCA1 , 2005, Familial Cancer.

[9]  B. Henderson,et al.  BRCA1 variants in a family study of African-American and Latina women , 2005, Human Genetics.

[10]  Päivi Heikkilä,et al.  Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families , 2004, Breast Cancer Research.

[11]  Yoshio Miki,et al.  Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage , 2004, Cancer science.

[12]  D. Altshuler,et al.  Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. , 2004, Human molecular genetics.

[13]  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.

[14]  A. Zharkikh,et al.  Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation , 2004, Journal of Medical Genetics.

[15]  R. Wooster,et al.  Breast and ovarian cancer. , 2003, The New England journal of medicine.

[16]  J. Potter,et al.  Understanding missense mutations in the BRCA1 gene: An evolutionary approach , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[17]  B. Friedenson Oral contraceptives and the risk of breast cancer. , 2002, The New England journal of medicine.

[18]  P. Bork,et al.  Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.

[19]  Giovanni Parmigiani,et al.  BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[20]  E. Williamson,et al.  BRCA1 transactivates the cyclin-dependent kinase inhibitor p27Kip1 , 2002, Oncogene.

[21]  Lawrence C. Brody,et al.  BRCA1 regulates the G2/M checkpoint by activating Chk1 kinase upon DNA damage , 2002, Nature Genetics.

[22]  R. Goldbohm,et al.  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 , 2001, The Lancet.

[23]  B. Ponder,et al.  Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing , 2001, Genes, chromosomes & cancer.

[24]  P. Møller,et al.  Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. , 2001, Human molecular genetics.

[25]  S C West,et al.  Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. , 2001, Molecular cell.

[26]  M. Jasin,et al.  BRCA2 is required for homology-directed repair of chromosomal breaks. , 2001, Molecular cell.

[27]  S. West,et al.  Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. , 2000, Genes & development.

[28]  B. Koller,et al.  Brca1 controls homology-directed DNA repair. , 1999, Molecular cell.

[29]  F. Couch,et al.  Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. , 1998, Molecular cell.

[30]  J. Parvin,et al.  BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A , 1998, Nature Genetics.

[31]  K Offit,et al.  BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. , 1997, JAMA.

[32]  Y. Houvras,et al.  Arrest of the cell cycle by the tumour-suppressor BRCA1 requires the CDK-inhibitor p21WAF1/CiPl , 1997, Nature.

[33]  T. Ludwig,et al.  Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. , 1997, Genes & development.

[34]  G. Eichele,et al.  Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2 , 1997, Nature.

[35]  Yonghong Xiao,et al.  Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells , 1997, Cell.

[36]  E. Thompson,et al.  Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. , 1997, American journal of human genetics.

[37]  I. Verma,et al.  Transcriptional activation by BRCA1 , 1996, Nature.

[38]  Julian Peto,et al.  Identification of the breast cancer susceptibility gene BRCA2 , 1996, Nature.

[39]  B. Koller,et al.  Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities , 1996, Nature Genetics.

[40]  J. Thompson,et al.  CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. , 1994, Nucleic acids research.

[41]  Steven E. Bayer,et al.  A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.

[42]  S. Seal,et al.  Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. , 1994, Science.

[43]  M. King,et al.  Linkage of early-onset familial breast cancer to chromosome 17q21. , 1990, Science.

[44]  R. Grantham Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.