Mary Claire King

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint 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
    M C King
    University of Washington, Seattle, WA 98195, USA
    JAMA 286:2251-6. 2001
  2. pmc BRCA1 transcriptionally regulates genes involved in breast tumorigenesis
    Piri L Welcsh
    Department of Medicine and Genome Sciences, University of Washington, Health Sciences Room K 160, Seattle, WA 98195 7720, USA
    Proc Natl Acad Sci U S A 99:7560-5. 2002
  3. ncbi request reprint Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
  4. ncbi request reprint Ten genes for inherited breast cancer
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Cell 11:103-5. 2007
  5. ncbi request reprint Schizophrenia: a common disease caused by multiple rare alleles
    Jon M McClellan
    Department of Psychiatry, University of Washington, Seattle, WA 98195, USA
    Br J Psychiatry 190:194-9. 2007
  6. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
  7. pmc Comparative analysis of cancer genes in the human and chimpanzee genomes
    Xose S Puente
    Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
    BMC Genomics 7:15. 2006
  8. ncbi request reprint Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
  9. ncbi request reprint Human genetics. Mapping human history
    Mary Claire King
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Science 298:2342-3. 2002
  10. pmc Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    Silvia Casadei
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Res 71:2222-9. 2011

Research Grants

  1. 1/4-A Genomic Approach to Schizophrenia
    Mary Claire King; Fiscal Year: 2010
  2. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2005
  3. Breast Cancer Genomics in a Founder Population
    Mary Claire King; Fiscal Year: 2007
  4. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2009
  5. DFNA1 IN INHERITED HEARING LOSS
    Mary Claire King; Fiscal Year: 2001
  6. GENETIC ANALYSIS OF BREAST AND OVARIAN CANCER
    Mary Claire King; Fiscal Year: 2001
  7. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2010

Detail Information

Publications50

  1. ncbi request reprint 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
    M C King
    University of Washington, Seattle, WA 98195, USA
    JAMA 286:2251-6. 2001
    ..The effect of tamoxifen on breast cancer incidence among women at extremely high risk due to inherited BRCA1 or BRCA2 mutations is unknown...
  2. pmc BRCA1 transcriptionally regulates genes involved in breast tumorigenesis
    Piri L Welcsh
    Department of Medicine and Genome Sciences, University of Washington, Health Sciences Room K 160, Seattle, WA 98195 7720, USA
    Proc Natl Acad Sci U S A 99:7560-5. 2002
    ..Coordinated expression of BRCA1 with ID4 and with stanniocalcin was confirmed in primary breast and ovarian tumors...
  3. ncbi request reprint Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    Tom Walsh
    Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    JAMA 295:1379-88. 2006
    ..Furthermore, other breast cancer genes generally are not evaluated...
  4. ncbi request reprint Ten genes for inherited breast cancer
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Cell 11:103-5. 2007
    ..In addition, biallelic mutations in BRCA2, BRIP1, and PALB2 cause Fanconi anemia. The convergence of these genes in a shared role reveals underlying biology of these illnesses and suggests still other breast cancer genes...
  5. ncbi request reprint Schizophrenia: a common disease caused by multiple rare alleles
    Jon M McClellan
    Department of Psychiatry, University of Washington, Seattle, WA 98195, USA
    Br J Psychiatry 190:194-9. 2007
    ..We review the implications of this model for gene discovery research in schizophrenia...
  6. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
    ..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity...
  7. pmc Comparative analysis of cancer genes in the human and chimpanzee genomes
    Xose S Puente
    Departamento de Bioquimica y Biologia Molecular, Facultad de Medicina, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain
    BMC Genomics 7:15. 2006
    ..To study whether genetic differences between human and chimpanzee could contribute to their distinct cancer susceptibility, we have examined in the chimpanzee genome the orthologous genes of a set of 333 human cancer genes...
  8. ncbi request reprint Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset...
  9. ncbi request reprint Human genetics. Mapping human history
    Mary Claire King
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Science 298:2342-3. 2002
  10. pmc Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    Silvia Casadei
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195, USA
    Cancer Res 71:2222-9. 2011
    ..Given this mutation prevalence and risk, consideration might be given to clinical testing of PALB2 by complete genomic sequencing for familial breast cancer patients with wild-type sequences at BRCA1 and BRCA2...
  11. pmc Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:12629-33. 2010
    ..This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer...
  12. doi request reprint BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma
    Kathryn P Pennington
    Division of Gynecologic Oncology, University of Washington Medical Center, Seattle, Washington 98195 6460, USA
    Cancer 119:332-8. 2013
    ..Uterine serous carcinoma (USC) is not recognized as part of any defined hereditary cancer syndrome, and its association with hereditary breast and ovarian carcinoma and Lynch syndrome are uncertain...
  13. pmc Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
    Sarah B Pierce
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle WA 98195, USA Department of Genome Sciences, University of Washington, Seattle WA 98195, USA Electronic address
    Am J Hum Genet 92:614-20. 2013
    ....
  14. pmc Response to DNA damage of CHEK2 missense mutations in familial breast cancer
    Wendy Roeb
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 21:2738-44. 2012
    ..An in vivo assay of cellular response to DNA damage by mutant CHEK2 alleles may complement and extend epidemiologic and genetic assessment of their clinical consequences...
  15. pmc Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA, USA
    Hum Genomics 2:203-11. 2006
    ..We also conclude that the same genes are responsible for hearing loss in this population as elsewhere, so that gene discovery in these families informs the genetics of hearing loss worldwide...
  16. ncbi request reprint Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population
    Avraham Shaag
    Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 14:555-63. 2005
    ....
  17. doi request reprint Loss of function germline mutations in RAD51D in women with ovarian carcinoma
    Anneka Wickramanyake
    Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, WA 98195, USA
    Gynecol Oncol 127:552-5. 2012
    ..We aimed to extend these results to ovarian carcinoma in the general population...
  18. pmc Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    Tom Walsh
    Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 108:18032-7. 2011
    ..Clinical genetic testing is currently done gene by gene, with each test costing thousands of dollars. In contrast, massively parallel sequencing allows such testing for many genes simultaneously at low cost...
  19. pmc Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
    Sarah B Pierce
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:282-8. 2010
    ....
  20. pmc Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51
    Tom Walsh
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:101-9. 2010
    ....
  21. pmc Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
    Alex S Nord
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Eur J Hum Genet 19:727-31. 2011
    ..These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment...
  22. pmc Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
    Sarah B Pierce
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 108:6543-8. 2011
    ..More generally, the relationship between HARS2 and Perrault syndrome illustrates how causality may be demonstrated for extremely rare inherited mutations in essential, highly conserved genes...
  23. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  24. pmc Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria
    Sarah B Pierce
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195 7720, USA
    Proc Natl Acad Sci U S A 108:18313-7. 2011
    ..0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population. Haplotype analysis indicated that the DCXR c.52(+1)G > A mutation arose more recently than the DCXR c.583ΔC mutation...
  25. doi request reprint A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA
    Vanessa L Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Mamm Genome 22:170-7. 2011
    ..Vestibular function is normal. Outer hair cells of Myo3a(KI/KI) mice degenerate with age in a pattern consistent with their progressive hearing loss...
  26. pmc From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Proc Natl Acad Sci U S A 99:7518-23. 2002
    ..The involvement of homologous class III myosins in both Drosophila vision and human hearing is an evolutionary link between these sensory systems...
  27. pmc ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
    Colin C Pritchard
    Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA
    J Mol Diagn 14:357-66. 2012
    ..ColoSeq offers a powerful, cost-effective means of genetic testing for Lynch and polyposis syndromes that eliminates the need for stepwise testing and multiple follow-up clinical visits...
  28. pmc A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1
    Karen M Chisholm
    Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America
    PLoS ONE 7:e30748. 2012
    ..Our results provide a global view of nonessential genes involved in suppressing Alu-mediated recombination and implicate variation in PIF1 in breast cancer predisposition...
  29. ncbi request reprint Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer
    Elizabeth M Swisher
    Division of Medical Genetics, University of Washington, Seattle, WA, USA
    Am J Obstet Gynecol 193:662-7. 2005
    ..Free tumor DNA in body fluids may be an important biomarker. We tested whether tumor-specific mutated p53 DNA can be detected in blood and peritoneal fluid from women with epithelial ovarian cancer...
  30. doi request reprint Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
    Suleyman Gulsuner
    Department of Medicine and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Cell 154:518-29. 2013
    ..These results also support the feasibility of integrating genomic and transcriptome analyses to map critical neurodevelopmental processes in time and space in the brain. ..
  31. pmc Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
    Tom Walsh
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:90-4. 2010
    ..Identification of GPSM2 as essential to the development of normal hearing suggests dysregulation of cell polarity as a mechanism underlying hearing loss...
  32. pmc Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections
    David M Tobin
    Department of Microbiology, University of Washington, Seattle, WA 98195, USA
    Cell 148:434-46. 2012
    ..Together, our findings suggest that host-directed therapies tailored to patient LTA4H genotypes may counter detrimental effects of either extreme of inflammation...
  33. ncbi request reprint Maternal famine, de novo mutations, and schizophrenia
    Jack M McClellan
    Department of Psychiatry, University of Washington, Seattle 98195, USA
    JAMA 296:582-4. 2006
  34. ncbi request reprint Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation
    Christiana DelloRusso
    Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195 7720, USA
    Mol Cancer Res 5:35-45. 2007
    ....
  35. ncbi request reprint A novel BRCA2-binding protein and breast and ovarian tumorigenesis
    Mary Claire King
    Department of Medicine Medical Genetics, University of Washington, Seattle, USA
    N Engl J Med 350:1252-3. 2004
  36. doi request reprint Forum: The interplay of genes and environment in psychiatric disorders
    Jon M McClellan
    Department of Psychiatry, University of Washington, Seattle, Washington, USA
    Curr Opin Psychiatry 21:322-3. 2008
  37. pmc Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers
    Karen M Chisholm
    Department of Genome Sciences, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA
    Cancer Genet Cytogenet 183:41-8. 2008
    ..In those tumors with retention of part of chromosome 17, LOH margins suggest that a high Alu content may have a role in the deletions...
  38. pmc Accurate and exact CNV identification from targeted high-throughput sequence data
    Alex S Nord
    Department of Genome Sciences, University of Washington, Seattle, 98195 7720, USA
    BMC Genomics 12:184. 2011
    ..However, methods for CNV detection from targeted enrichment are lacking. We present a method combining coverage with map information for the identification of deletions and duplications in targeted sequence data...
  39. doi request reprint Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Science 320:539-43. 2008
    ..These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia...
  40. pmc Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22
    Leonard Lipovich
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 7730, USA
    Genome Res 16:45-54. 2006
    ..Since some TUs may be functional noncoding transcripts and since the cis-regulatory potential of UGPs is well recognized, TUs and UGPs specific to the primate lineage may contribute to the genomic basis for primate-specific phenotypes...
  41. pmc The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans
    David M Tobin
    Department of Microbiology, University of Washington, Box 357242, Seattle, WA 98195, USA
    Cell 140:717-30. 2010
    ..Our results suggest conserved roles for balanced eicosanoid production in vertebrate resistance to mycobacterial infection...
  42. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  43. ncbi request reprint Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
    Hashem Shahin
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
    Hum Genet 110:284-9. 2002
    ..Some of the 25 families with multiple cases of inherited prelingual deafness and wildtype GJB2 sequences may represent as-yet-unknown genes for inherited hearing loss...
  44. pmc DBC2, a candidate for a tumor suppressor gene involved in breast cancer
    Masaaki Hamaguchi
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Proc Natl Acad Sci U S A 99:13647-52. 2002
    ..By contrast, expression of a somatic mutant discovered in a breast cancer specimen does not suppress the growth of breast cancer cells...
  45. ncbi request reprint Defining women at high risk of ovarian cancer
    Elizabeth M Swisher
    Cancer Res 67:2902; author reply 2902-3. 2007
  46. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  47. ncbi request reprint Mary-Claire King
    Charlotte Schubert
    Nat Med 9:633. 2003
  48. ncbi request reprint Clinical usefulness of genetic information for predicting radiographic damage in rheumatoid arthritis
    John J Chen
    Department of Preventive Medicine, Stony Brook University School of Medicine, Stony Brook, New York, USA
    J Rheumatol 29:2068-73. 2002
    ....
  49. pmc Genetics and genomics: a call for papers
    Catherine D DeAngelis
    Arch Surg 142:822. 2007
  50. ncbi request reprint Race: a genetic melting-pot
    Marcus W Feldman
    Department of Biological Sciences, Stanford University, California 94305, USA
    Nature 424:374. 2003

Research Grants34

  1. 1/4-A Genomic Approach to Schizophrenia
    Mary Claire King; Fiscal Year: 2010
    ..Our goal is to use state-of-the-art genomic tools to detect these mutations anywhere in the genome, and to identify genes that are more often impacted by structural mutations in persons with schizophrenia compared to healthy controls. ..
  2. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2005
    ..abstract_text> ..
  3. Breast Cancer Genomics in a Founder Population
    Mary Claire King; Fiscal Year: 2007
    ..Discovery of additional breast cancer genes of moderate penetrance in the AJ population will be important to women both in this population and generally. ..
  4. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2009
    ....
  5. DFNA1 IN INHERITED HEARING LOSS
    Mary Claire King; Fiscal Year: 2001
    ....
  6. GENETIC ANALYSIS OF BREAST AND OVARIAN CANCER
    Mary Claire King; Fiscal Year: 2001
    ..The intent of this project is to exploit genomic technologies to integrate the identification of genes biologically related to BRCA1 with characterization of those genes in human tumors and families. ..
  7. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2010
    ....