Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1 and BRCA2 genes in familial breast cancer
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R. Kanamaru | C. Ishioka | N. Ohuchi | T. Kudo | S. Takenoshita | R. Abe | T. Nomizu | M. Sakayori | M. Kawahara | Kazuko Shiraishi | A. Shimada
[1] S. Seal,et al. BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[2] P. Oefner,et al. Denaturing high‐performance liquid chromatography: A review , 2001, Human mutation.
[3] 池田 宜子. Frequency of BRCA1 and BRCA2 Germline Mutations in Japanese Breast Cancer Families , 2001 .
[4] Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases , 2000 .
[5] S. Neuhausen. Ethnic differences in cancer risk resulting from genetic variation , 1999, Cancer.
[6] T. Rebbeck. Inherited genetic predisposition in breast cancer , 1999, Cancer.
[7] D. Stoppa-Lyonnet,et al. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. , 1999, Cancer research.
[8] D. Stoppa-Lyonnet,et al. An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? , 1999, American journal of human genetics.
[9] R. Kanamaru,et al. Detection of APC mutations by a yeast‐based protein truncation test (YPTT) , 1998, Genes, chromosomes & cancer.
[10] Peter Devilee,et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients , 1997, Nature Genetics.
[11] M. Skolnick,et al. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. , 1997, Human molecular genetics.
[12] P. Hartge,et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. , 1997, The New England journal of medicine.
[13] M. King,et al. Population genetics of BRCA1 and BRCA2. , 1997, American journal of human genetics.
[14] T. Sugimura,et al. BRCA2 germline mutations in Japanese breast cancer families , 1997, International journal of cancer.
[15] S. Tsuji,et al. Mutational Analysis of BRCA1 Gene in Ovarian and Breast‐ovarian Cancer Families in Japan , 1997, Japanese journal of cancer research : Gann.
[16] K. Isselbacher,et al. Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[17] G. Lenoir,et al. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. , 1997, Cancer research.
[18] K. Isselbacher,et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer , 1997, Nature Genetics.
[19] D. Gjerde,et al. Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. , 1997, Genetic testing.
[20] M. Stratton,et al. A polymorphic stop codon in BRCA2 , 1996, Nature Genetics.
[21] J. Rommens,et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds , 1996, Nature Genetics.
[22] D. Bentley,et al. Identification of the breast cancer susceptibility gene BRCA2 , 1995, Nature.
[23] T. Sugimura,et al. Germline mutation of BRCA1 in Japanese breast cancer families. , 1995, Cancer research.
[24] J. Klijn,et al. Rapid detection of BRCA1 mutations by the protein truncation test , 1995, Nature Genetics.
[25] A. Whittemore,et al. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. , 1995, American journal of human genetics.
[26] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[27] J. D. den Dunnen,et al. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. , 1994, Genomics.
[28] D. Easton,et al. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. , 1993, American journal of human genetics.
[29] M. Zweig,et al. Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine. , 1993, Clinical chemistry.
[30] K. Kinzler,et al. Molecular diagnosis of familial adenomatous polyposis. , 1993, The New England journal of medicine.
[31] T. Sekiya,et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.