Mutation analysis of five candidate genes in familial breast cancer

[1]  A. Whittemore,et al.  Population‐based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066–6T>G (IVS10–6T>G) from the Breast Cancer Family Registry , 2006, Human mutation.

[2]  C. Plass,et al.  20q11.1 amplification in giant‐cell tumor of bone: Array CGH, FISH, and association with outcome , 2006, Genes, chromosomes & cancer.

[3]  D. Labuda,et al.  Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families , 2006, BMC Cancer.

[4]  S. Seal,et al.  A genome wide linkage search for breast cancer susceptibility genes , 2006, Genes, chromosomes & cancer.

[5]  John L Hopper,et al.  Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource , 2006, Breast Cancer Research.

[6]  Edward D Esplin,et al.  The glycine 90 to aspartate alteration in the Aβ subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function , 2006, Genes, chromosomes & cancer.

[7]  A. Spurdle,et al.  Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer , 2005, Breast Cancer Research.

[8]  S. Powell,et al.  The Role of the BRCA1 Tumor Suppressor in DNA Double-Strand Break Repair , 2005, Molecular Cancer Research.

[9]  Andrew D. Yates,et al.  Somatic mutations of the protein kinase gene family in human lung cancer. , 2005, Cancer research.

[10]  Andrew D. Yates,et al.  A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer , 2005, Nature Genetics.

[11]  P. Oefner,et al.  Two ATM variants and breast cancer risk , 2005, Human mutation.

[12]  Robert Winqvist,et al.  Mutation analysis of the ATR gene in breast and ovarian cancer families , 2005, Breast Cancer Research.

[13]  P. Jalinot,et al.  Silencing of human Int-6 impairs mitosis progression and inhibits cyclin B–Cdk1 activation , 2005, Oncogene.

[14]  Gemma K. Alderton,et al.  Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. , 2004, Human molecular genetics.

[15]  K. Khanna,et al.  Autophosphorylation of ataxia‐telangiectasia mutated is regulated by protein phosphatase 2A , 2004, The EMBO journal.

[16]  J. Hesketh,et al.  Zipcodes and postage stamps: mRNA localisation signals and their trans-acting binding proteins. , 2004, Briefings in functional genomics & proteomics.

[17]  G. Chenevix-Trench,et al.  ATM and Genome Maintenance: Defining Its Role in Breast Cancer Susceptibility , 2004, Journal of Mammary Gland Biology and Neoplasia.

[18]  J. Rosen,et al.  Chk1 is haploinsufficient for multiple functions critical to tumor suppression. , 2004, Cancer cell.

[19]  A. Sancar,et al.  Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. , 2004, Annual review of biochemistry.

[20]  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.

[21]  D. Bartel MicroRNAs Genomics, Biogenesis, Mechanism, and Function , 2004, Cell.

[22]  Douglas F Easton,et al.  A full-likelihood method for the evaluation of causality of sequence variants from family data. , 2003, American journal of human genetics.

[23]  J. Bartek,et al.  Ataxia-telangiectasia-mutated (ATM) and NBS1-dependent Phosphorylation of Chk1 on Ser-317 in Response to Ionizing Radiation* , 2003, The Journal of Biological Chemistry.

[24]  Felix W. Frueh,et al.  The Use of Denaturing High-Performance Liquid Chromatography (DHPLC) for the Analysis of Genetic Variations: Impact for Diagnostics and Pharmacogenetics , 2003, Clinical chemistry and laboratory medicine.

[25]  Judith A. Goodship,et al.  A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome , 2003, Nature Genetics.

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

[27]  J. Sambrook,et al.  Dominant negative ATM mutations in breast cancer families. , 2002, Journal of the National Cancer Institute.

[28]  M. Gentile,et al.  Candidate tumour suppressor genes at 11q23–q24 in breast cancer: evidence of alterations in PIG8, a gene involved in p53-induced apoptosis , 2001, Oncogene.

[29]  S. Jiang,et al.  Functional Analysis of Csk and CHK Kinases in Breast Cancer Cells* , 2001, The Journal of Biological Chemistry.

[30]  R. Callahan,et al.  Evidence for the transforming activity of a truncated Int6 gene, in vitro , 2001, Oncogene.

[31]  N E Day,et al.  Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population‐based study , 2001, Genetic epidemiology.

[32]  Huong T. T. Pham,et al.  Disruption of protein phosphatase 2A subunit interaction in human cancers with mutations in the Aα subunit gene , 2001, Oncogene.

[33]  W. Brownell,et al.  Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems. , 2000, Genes & development.

[34]  P. Oefner,et al.  High-accuracy DNA sequence variation screening by DHPLC. , 2000, BioTechniques.

[35]  E. Sexsmith,et al.  Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. , 2000, Cancer genetics and cytogenetics.

[36]  S. Altschul,et al.  SAGEmap: a public gene expression resource. , 2000, Genome research.

[37]  S. Elledge,et al.  Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint. , 2000, Genes & development.

[38]  A. Carr,et al.  Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice , 2000, Current Biology.

[39]  R. Strausberg,et al.  The cancer genome anatomy project: building an annotated gene index. , 2000, Trends in genetics : TIG.

[40]  M. O’Donovan,et al.  Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. , 1999, Clinical chemistry.

[41]  J. Minna,et al.  Alterations of the PPP2R1B gene in human lung and colon cancer. , 1998, Science.

[42]  J Chang-Claude,et al.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. , 1998, American journal of human genetics.

[43]  A. Marchetti,et al.  The chromosome location of the human homolog of the mouse mammary tumor-associated gene INT6 and its status in human breast carcinomas. , 1997, Genomics.

[44]  J. Hershey,et al.  The Translation Initiation Factor eIF3-p48 Subunit Is Encoded byint-6, a Site of Frequent Integration by the Mouse Mammary Tumor Virus Genome* , 1997, The Journal of Biological Chemistry.

[45]  S. Schreiber,et al.  cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[46]  C. Marshall,et al.  Multiple K-ras codon 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique. , 1991, Cancer research.

[47]  N. Risch,et al.  Age at onset as an indicator of familial risk of breast cancer. , 1990, American journal of epidemiology.

[48]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.