Research Topics
Genomes and Genes
| Mary Claire KingSummaryAffiliation: University of Washington Country: USA Publications
Research Grants
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Detail Information
Publications
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 TrialM 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...
BRCA1 transcriptionally regulates genes involved in breast tumorigenesisPiri 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...- Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancerTom Walsh
Department of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720, USA
JAMA 295:1379-88. 2006..Effective methods for identifying these mutations should be made available to women at high risk... - Ten genes for inherited breast cancerTom 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... - Schizophrenia: a common disease caused by multiple rare allelesJon 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... - Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora 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... 
Comparative analysis of cancer genes in the human and chimpanzee genomesXose 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...- Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2Mary 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... - Human genetics. Mapping human historyMary-Claire King
Department of Medicine (Medical Genetics, University of Washington, Seattle, WA 98195, USA
Science 298:2342-3. 2002 - Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancerSilvia 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... - Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencingTom 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... - Response to DNA damage of CHEK2 missense mutations in familial breast cancerWendy 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... - Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish populationAvraham Shaag
Department of Medicine Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195 7720, USA
Hum Mol Genet 14:555-63. 2005.... - Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencingTom 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... - Reduced transcript expression of genes affected by inherited and de novo CNVs in autismAlex 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... - Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault SyndromeSarah B Pierce
Department of Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 87:282-8. 2010.... - Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeSarah 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... - A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh 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... - Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51Tom Walsh
Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 87:101-9. 2010.... - Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuriaSarah 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... 
Loss of function germline mutations in RAD51D in women with ovarian carcinomaAnneka 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...- A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIAVanessa 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... - From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30Tom 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... - ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencingColin 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... - A genomewide screen for suppressors of Alu-mediated rearrangements reveals a role for PIF1Karen 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... - Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancerElizabeth 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... - A novel BRCA2-binding protein and breast and ovarian tumorigenesisMary-Claire King
Department of Medicine (Medical Genetics, University of Washington, Seattle, USA
N Engl J Med 350:1252-3. 2004 - Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infectionsDavid 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... - Maternal famine, de novo mutations, and schizophreniaJack M McClellan
Department of Psychiatry, University of Washington, Seattle 98195, USA
JAMA 296:582-4. 2006 - Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiationChristiana 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.... - Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82Tom 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... - Accurate and exact CNV identification from targeted high-throughput sequence dataAlex 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... - Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancersKaren 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... - Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaTom 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... - Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian populationTom 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... - The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humansDavid 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... - Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22Leonard 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... - Forum: The interplay of genes and environment in psychiatric disordersJon M McClellan
Department of Psychiatry, University of Washington, Seattle, Washington, USA
Curr Opin Psychiatry 21:322-3. 2008 - DBC2, a candidate for a tumor suppressor gene involved in breast cancerMasaaki 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... - Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish populationSharon 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.... - Defining women at high risk of ovarian cancerElizabeth M Swisher
Cancer Res 67:2902; author reply 2902-3. 2007 - Strong association of de novo copy number mutations with autismJonathan 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... - Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle EastHashem 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... - Clinical usefulness of genetic information for predicting radiographic damage in rheumatoid arthritisJohn J Chen
Department of Preventive Medicine, Stony Brook University School of Medicine, Stony Brook, New York, USA
J Rheumatol 29:2068-73. 2002..CONCLUSION: Genetic information is useful for predicting radiographic damage in RA even for patients in whom extensive sociodemographic, family history, clinical, and immunologic information is available... - Genetics and genomics: a call for papersCatherine D DeAngelis
Arch Surg 142:822. 2007 - Race: a genetic melting-potMarcus W Feldman
Department of Biological Sciences, Stanford University, California 94305, USA
Nature 424:374. 2003 - Mary-Claire KingCharlotte Schubert
Nat Med 9:633. 2003
Research Grants
- 1/4-A Genomic Approach to SchizophreniaMary 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. ..
- Genetics of Hearing Loss in Middle Eastern FamiliesMary Claire King; Fiscal Year: 2005..abstract_text> ..
- Breast Cancer Genomics in a Founder PopulationMary 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. ..
- Genetics of Hearing Loss in Middle Eastern FamiliesMary Claire King; Fiscal Year: 2009....
- DFNA1 IN INHERITED HEARING LOSSMary Claire King; Fiscal Year: 2001....
- GENETIC ANALYSIS OF BREAST AND OVARIAN CANCERMary 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. ..
- Genetics of Hearing Loss in Middle Eastern FamiliesMary Claire King; Fiscal Year: 2010....