Genomes and Genes
Nathan A Ellis
Affiliation: Memorial Sloan-Kettering Cancer Center
- No major association between TGFBR1*6A and prostate cancerVirginia Kaklamani
Cancer Genetics Program, Division of Hematology Oncology, Department of Medicine, Robert H Lurie Comprehensive Cancer Center, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA
BMC Genet 5:28. 2004..080) but the differences in TGFBR1*6A genotype distribution between cases and controls did not reach statistical significance (p = 0.67). Our data suggest that TGFBR1*6A does not contribute to the development of prostate cancer...
- The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestryN A Ellis
Department of Human Genetics, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, USA
Am J Hum Genet 63:1685-93. 1998..This striking observation underscores the complexity of Jewish history and demonstrates the importance of migration and genetic drift in the formation of human populations...
- Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normalN A Ellis
Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, U S A
Am J Hum Genet 65:1368-74. 1999..These experiments prove that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells...
- Back mutation can produce phenotype reversion in Bloom syndrome somatic cellsN A Ellis
Department of Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Hum Genet 108:167-73. 2001....
- Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasmsJinru Shia
Department of Pathology, Memorial Sloan Kettering, Cancer Center, New York, NY 10021, USA
Am J Surg Pathol 29:96-104. 2005....
- A636P testing in Ashkenazi JewsJose G Guillem
Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
Fam Cancer 3:223-7. 2004..In addition, we summarize our initial experience with a prospective A636P testing protocol aimed at Ashkenazi Jewish patients at high or intermediate risk for harboring the A636P mutation...
- Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical managementJose G Guillem
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Ann Surg 245:560-5. 2007..This study summarizes our initial experience with prospective, single-amplicon (mutation-specific) A636P testing in Ashkenazi Jewish patients at risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)...
- Localization of breast cancer susceptibility loci by genome-wide SNP linkage disequilibrium mappingNathan A Ellis
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Genet Epidemiol 30:48-61. 2006..While these results demonstrate the feasibility of genome-wide association strategies, further application of this approach will critically depend on optimizing the density and distribution of SNPs and the size and type of study design...
- Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mappingNandita Mitra
Department of Epidemiology and Biostatistics, and Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
Cancer Res 64:8116-25. 2004..This work demonstrates the power of the LD mapping approach in an isolated population and its general applicability to the identification of novel cancer-causing genes...
- Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancerTomas Kirchhoff
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Natl Cancer Inst 96:68-70. 2004..22 to 1.14). We thus recommend that counseling for colorectal cancer screening and prevention in individuals with BRCA mutations be based on the personal and family history of colorectal cancer or associated syndromic malignancies...
- BRCA mutations and risk of prostate cancer in Ashkenazi JewsTomas Kirchhoff
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
Clin Cancer Res 10:2918-21. 2004..Several series looking at the frequency of BRCA mutations in unselected patients with prostate cancer have not confirmed this finding. To clarify this issue, we conducted a large case-control study...
- Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancerJinru Shia
Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY 10002, USA
Am J Surg Pathol 27:1407-17. 2003..Using a stepwise logistic regression model, a formula was generated that could be used to calculate the probability of a colorectal carcinoma being MSI-H based on morphologic features...
- MSH6 germline mutations are rare in colorectal cancer familiesPaolo Peterlongo
Cell Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Int J Cancer 107:571-9. 2003..Altogether, our results indicate that disease-causing germline mutations of MSH6 are rare in HNPCC and HNPCC-like families...
- The utility of immunohistochemical detection of DNA mismatch repair gene proteinsJinru Shia
Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, NY 10021, New York, USA
Virchows Arch 445:431-41. 2004....
- Analysis of genetic variation in Ashkenazi Jews by high density SNP genotypingAdam B Olshen
Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
BMC Genet 9:14. 2008..435,632 SNPs overlapped and met annotation criteria in the two groups...
- Increased frequency of disease-causing MYH mutations in colon cancer familiesPaolo Peterlongo
Cell Biology Program, Memorial Sloan Kettering Cancer Center New York, NY, USA
Carcinogenesis 27:2243-9. 2006..These data further support a model in which low-penetrance alleles are enriched in MMR gene mutation-negative CRC families...
- Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome RegistryJames German
Weill Medical College of Cornell University, New York, New York, USA
Hum Mutat 28:743-53. 2007..The presence of widespread founder mutations in persons with BS points to population genetic processes that repeatedly and pervasively generate mutations that recur in unrelated persons...
- Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modificationSonia Eladad
Laboratory of Cancer Suspectibility, Department of Medicine, Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
Hum Mol Genet 14:1351-65. 2005..These results constitute evidence that BLM is a DNA damage sensor that signals the formation of DDI, and they establish SUMO modification as a negative regulator of BLM's signaling function...
- A636P is associated with early-onset colon cancer in Ashkenazi JewsJose G Guillem
Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
J Am Coll Surg 196:222-5. 2003..This study seeks to characterize the proportion of individuals of Ashkenazi heritage with very early-onset colon cancer (diagnosed at age 40 or younger) that could be attributed to MSH2*1906C>G...
- Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33Bert Gold
Laboratory of Genomic Diversity, Human Genetics Section, National Cancer Institute Frederick, Frederick, MD 21702, USA
Proc Natl Acad Sci U S A 105:4340-5. 2008..Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondrial fatty acid oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both known pathways in breast cancer pathogenesis...
- The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studiesLutecia H Mateus Pereira
Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD 20892, USA
BMC Genet 8:68. 2007..We evaluated LD using pairwise and haplotype-based methods, and assessed correlation of SNPs with the founder mutations using Pearson's correlation coefficient...
- Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancerPaolo Peterlongo
Hum Mutat 25:498-500. 2005
- Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancerJ Teruya-Feldstein
Department of Pathology, Memorial Sloan Kettering Cancer Center, Memorial Hospital, New York, NY 10021, USA
Leuk Lymphoma 43:1619-26. 2002....
- BLM heterozygosity and the risk of colorectal cancerStephen B Gruber
Departments of Internal Medicine and Epidemiology, University of Michigan, Ann Arbor, MI 48109, USA
Science 297:2013. 2002
- SUMO: the glue that bindsMichael J Matunis
Department of Biochemistry and Molecular Biology, Johns Hopkins University, Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
Dev Cell 11:596-7. 2006....
- Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutationNoah D Kauff
Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York 10021, USA
N Engl J Med 346:1609-15. 2002..We prospectively compared the effect of risk-reducing salpingo-oophorectomy with that of surveillance for ovarian cancer on the incidence of subsequent breast cancer and BRCA-related gynecologic cancers in women with BRCA mutations...
- The broken genome: genetic and pharmacologic approaches to breaking DNALeslie L Woo
Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL 60637, USA
Ann Med 39:208-18. 2007..This review discusses the roles of RecQ helicases in genomic stability, the interplay between RecQ helicases and topoisomerase 3s, and current and future prospects for targeting these interactions to develop novel anticancer therapies...
- Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYHPaolo Peterlongo
Int J Cancer 114:505-7. 2005
- BLM helicase-dependent transport of p53 to sites of stalled DNA replication forks modulates homologous recombinationSagar Sengupta
Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
EMBO J 22:1210-22. 2003..These results indicate that p53 and BLM functionally interact during resolution of stalled DNA replication forks and provide insight into the mechanism of genomic fidelity maintenance by these nuclear proteins...
- MDM2 SNP309 and TP53 Arg72Pro interact to alter therapy-related acute myeloid leukemia susceptibilityNathan A Ellis
Department of Medicine, University of Chicago Cancer Research Center, University of Chicago, IL 60637, USA
Blood 112:741-9. 2008..These data indicate that the MDM2 and TP53 variants interact to modulate responses to genotoxic therapy and are determinants of risk for t-AML...