Back to Index
John D. Carpten
Professor and Chair of Translational Genomics,
Director, Institute For Translational Genomics
Department of Translational Genomics
NRT G502 1450 Biggy Street Health Sciences Campus Los Angeles


Dr. Carpten is an internationally recognized expert if genome science, and possess unique training in multiple disciplines including germline genetics for disease risk and predisposition, somatic cancer genomics, health disparities research, cell biology, functional genomics, and precision medicine.
Dr. Carpten earned his Ph.D. from the Ohio State University in 1994 with a focus on human genetics. He then went on to complete a postdoctoral fellowship at the National Human Genome Research Institute, NIH, Bethesda, in Cancer Genetics, where he was later promoted to the tenure track in 2000. Then in 2003, Dr. Carpten accepted a position to become Division Director, Division of Integrated Cancer Genomics, at the Translational Genomics Research Institute (TGen), Phoenix, AZ. Later, in 2012 he was promoted to the position of Deputy Director of Basic Research for TGen. In 2016 he was recruited by the University of Southern California Keck School of Medicine, to build and chair a new Department and Institute of Translational Genomics.

Dr. Carpten’s primary research program centers around the development and application of cutting edge genomic technologies and bioinformatics analysis in search of germ-line and somatic alterations that are associated with cancer risk and tumor characteristics, respectively. A major focus of Dr. Carpten’s research has been related to prostate cancer genetics. He was a lead author on the first genome wide scan for hereditary prostate cancer genes (Science. 1996 Nov 22;274(5291):1371-4.), and the identification of HOXB13 as the first true hereditary prostate cancer gene (New England Journal of Medicine. 2012 Jan 12;366(2):141-9.). His group has also discovered a number of single nucleotide polymorphisms, which confer increased risk of developing prostate cancer (Journal of the National Cancer Institute. 2007 Dec 19;99(24):1836-44.). Furthermore, he has played a critical role in prostate cancer cell biology studies (Nat Genet. 2004 Sep;36(9):979-83.), and prostate cancer tumor genome profiling studies (Genome Res. 2011 Jan;21(1):47-55.).

Dr. Carpten has also been an early pioneer in the understanding the role of biology in disparate cancer incidence and mortality rates seem among underrepresented populations. Through his leadership, the African American Hereditary Prostate Cancer Study (AAHPC) Network was conceived.  This study has become a model for genetic linkage studies in underrepresented populations and led to the first genome wide scan for prostate cancer susceptibility genes in African Americans (Prostate. 2007 Jan 1;67(1):22-31.). 

Dr. Carpten’ cancer research program spans many tumor types including but not limited to prostate cancer, breast cancer, colon cancer, brain cancer, and multiple myeloma, in addition to several forms of pediatric cancer. He led a landmark study, which culminated in the discovery of the AKT1(E17K) activating mutation in human cancers, published in Nature. This study received an "Exceptional" rating by the Faculty of 1000, placing the paper in the top 1% of published work worldwide in the area of biology in 2007. It also received a “Must Read” rating, placing the paper in the top 5% of published work in the area of medicine. He extended this work to include an in depth analysis of the functional and mechanistic effects of this mutation on mammary cell biology (Human Mutation). Furthermore, his laboratory participated in and led several high impact studies in Multiple Myeloma research. This includes the seminal study describing common mutation of NF-kB pathway genes in Multiple Myeloma, which was published in Cancer Cell. Importantly, Multiple Myeloma is yet another form of cancer, which disproportionately affects African Americans. Dr. Carpten’s laboratory led the first study to interrogate the somatic features of Multiple Myeloma tumors derived from African American patients, who have higher incidence rates and worse outcomes compared to European descent Myeloma patients (Blood).

Dr. Carpten has also been involved the development and application of high throughput genomic methods and technologies throughout his career. Currently, he has a major focus in Precision Medicine, where Next Generation Sequencing is being applied to interrogate the genomes and transcriptomes of tumors in a clinical setting to identify targetable events for select therapeutics (Molecular Cancer Therapeutics. 2013 Jan;12(1):104-16.) (PLoS Genetics. 2014 Feb 13;10(2):e1004135.). Towards these efforts, he coordinated the development of a CLIA-certified laboratory to support clinical genomic testing. This laboratory was later commercialized as Ashion Analytics, LLC.

Dr. Carpten has received research funding awards from various sources to support his research including NIH, Prostate Cancer Foundation, Susan G. Komen for the Cure, Multiple Myeloma Research Foundation, and a number of pharmaceutical companies. Dr. Carpten has co-authored over 160 publications in scientific journals that include Science, Nature, Nature Genetics, Genome Research, Cancer Research, Molecular Cancer Research, Cancer Cell, and the New England Journal of Medicine.

It is his hope that this work will one day lead to improvements in knowledge based therapeutics toward improvements in outcomes for cancer patients.


National Institutes of Health: NIH/NHGRI Jeffrey M. Trent Lectureship, 2016-2016

Susan G. Komen for the Cure: AACR Distinguished Lectureship on the Science of Health Disparities, 2014-2014

Science Spectrum Magazine: Science Trailblazer, 2006-2006

National Institutes of Health: NHGRI Faculty Mentor Awardee , 2002-2002


Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium. PLoS Genet. 2017 Apr 21; 13(4):e1006719. View in: PubMed

Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma. Genome Res. 2017 Apr; 27(4):524-532. View in: PubMed

gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels. Genet Epidemiol. 2017 Feb 16. View in: PubMed

Identifying aggressive prostate cancer foci using a DNA methylation classifier. Genome Biol. 2017 Jan 12; 18(1):3. View in: PubMed

Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies. BMC Cancer. 2017 Jan 05; 17(1):17. View in: PubMed

Robotic salvage retroperitoneal and pelvic lymph node dissection for 'node-only' recurrent prostate cancer: technique and initial series. BJU Int. 2016 Dec 15. View in: PubMed

Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers. Sci Rep. 2016 Dec; 6(1):25. View in: PubMed

Comprehensive Genomic Analysis of Metastatic Mucinous Urethral Adenocarcinoma Guides Precision Oncology Treatment: Targetable EGFR Amplification Leading to Successful Treatment With Erlotinib. Clin Genitourin Cancer. 2016 Dec 01. View in: PubMed

Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies. Genet Epidemiol. 2016 Sep; 40(6):461-9. View in: PubMed

A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci. Cancer Epidemiol Biomarkers Prev. 2016 Sep 1. View in: PubMed

Prostate Cancer Susceptibility in Men of African Ancestry at 8q24. J Natl Cancer Inst. 2016 Jul; 108(7). View in: PubMed

Translating RNA sequencing into clinical diagnostics: opportunities and challenges. Nat Rev Genet. 2016 May; 17(5):257-71. View in: PubMed

Successful Treatment of Genetically Profiled Pediatric Extranodal NK/T-Cell Lymphoma Targeting Oncogenic STAT3 Mutation. Pediatr Blood Cancer. 2016 Apr; 63(4):727-30. View in: PubMed

Molecular Genetic Profiling of Adolescent Glassy Cell Carcinoma of the Cervix Reveals Targetable EGFR Amplification with Potential Therapeutic Implications. J Adolesc Young Adult Oncol. 2016 Mar 14. View in: PubMed

A somatic reference standard for cancer genome sequencing. Sci Rep. 2016; 6:24607. View in: PubMed

Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions. Hum Mol Genet. 2015 Oct 1; 24(19):5603-18. View in: PubMed

Toward precision medicine in glioblastoma: the promise and the challenges. Neuro Oncol. 2015 Aug; 17(8):1051-63. View in: PubMed

Pilot Trial of Selecting Molecularly Guided Therapy for Patients with Non-V600 BRAF-Mutant Metastatic Melanoma: Experience of the SU2C/MRA Melanoma Dream Team. Mol Cancer Ther. 2015 Aug; 14(8):1962-71. View in: PubMed

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. Mol Genet Genomic Med. 2015 Jul; 3(4):283-301. View in: PubMed

Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusion. Mol Genet Genomic Med. 2015 Mar; 3(2):130-6. View in: PubMed

Generalizability of established prostate cancer risk variants in men of African ancestry. Int J Cancer. 2015 Mar 1; 136(5):1210-7. View in: PubMed

Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults. PLoS One. 2015; 10(6):e0131106. View in: PubMed

An integrated framework for reporting clinically relevant biomarkers from paired tumor/normal genomic and transcriptomic sequencing data in support of clinical trials in personalized medicine. Pac Symp Biocomput. 2015; 20:56-67. View in: PubMed

8q24 risk alleles and prostate cancer in African-Barbadian men. Prostate. 2014 Dec; 74(16):1579-88. View in: PubMed

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nat Genet. 2014 Oct; 46(10):1103-9. View in: PubMed

Detection of an atypical teratoid rhabdoid brain tumor gene deletion in circulating blood using next-generation sequencing. J Child Neurol. 2014 Sep; 29(9):NP81-5. View in: PubMed

Whole-genome sequencing of an aggressive BRAF wild-type papillary thyroid cancer identified EML4-ALK translocation as a therapeutic target. World J Surg. 2014 Jun; 38(6):1296-305. View in: PubMed

Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. Prostate. 2014 Jun; 74(9):983-90. View in: PubMed

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease. Hum Genet. 2014 Mar; 133(3):347-56. View in: PubMed

Simultaneous characterization of somatic events and HPV-18 integration in a metastatic cervical carcinoma patient using DNA and RNA sequencing. Int J Gynecol Cancer. 2014 Feb; 24(2):329-38. View in: PubMed

Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma. PLoS Genet. 2014 Feb; 10(2):e1004135. View in: PubMed

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements. PLoS One. 2014; 9(2):e87113. View in: PubMed

Integrated genomic and epigenomic analysis of breast cancer brain metastasis. PLoS One. 2014; 9(1):e85448. View in: PubMed

Long insert whole genome sequencing for copy number variant and translocation detection. Nucleic Acids Res. 2014 Jan; 42(2):e8. View in: PubMed

Open-access synthetic spike-in mRNA-seq data for cancer gene fusions. BMC Genomics. 2014; 15:824. View in: PubMed

Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer. BMC Med Genomics. 2014; 7:36. View in: PubMed

Hypodiploid multiple myeloma is characterized by more aggressive molecular markers than non-hyperdiploid multiple myeloma. Haematologica. 2013 Oct; 98(10):1586-92. View in: PubMed

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun; 45(6):690-6. View in: PubMed

Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease. Br J Haematol. 2013 Jun; 161(5):748-51. View in: PubMed

Uncovering the biology of multiple myeloma among African Americans: a comprehensive genomics approach. Blood. 2013 Apr 18; 121(16):3147-52. View in: PubMed

CUL3 and NRF2 mutations confer an NRF2 activation phenotype in a sporadic form of papillary renal cell carcinoma. Cancer Res. 2013 Apr 1; 73(7):2044-51. View in: PubMed

A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges. PLoS One. 2013; 8(10):e76438. View in: PubMed

Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities. Mol Cancer Ther. 2013 Jan; 12(1):104-16. View in: PubMed

Expression and phosphorylation of the AS160_v2 splice variant supports GLUT4 activation and the Warburg effect in multiple myeloma. Cancer Metab. 2013; 1(1):14. View in: PubMed

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). Hum Genet. 2013 Jan; 132(1):5-14. View in: PubMed

Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs. BMC Genomics. 2013; 14:302. View in: PubMed

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer. Fam Cancer. 2012 Dec; 11(4):595-600. View in: PubMed

Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci Transl Med. 2012 Nov 28; 4(162):162ra154. View in: PubMed

Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides. Blood. 2012 Aug 2; 120(5):1060-6. View in: PubMed

Clonal competition with alternating dominance in multiple myeloma. Blood. 2012 Aug 2; 120(5):1067-76. View in: PubMed

Differential effects of AKT1(p. E17K) expression on human mammary luminal epithelial and myoepithelial cells. Hum Mutat. 2012 Aug; 33(8):1216-27. View in: PubMed

Association of prostate cancer risk with SNPs in regions containing androgen receptor binding sites captured by ChIP-On-chip analyses. Prostate. 2012 Mar; 72(4):376-85. View in: PubMed

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. Prostate. 2012 Mar; 72(4):410-26. View in: PubMed

Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med. 2012 Jan 12; 366(2):141-9. View in: PubMed

Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing. PLoS One. 2012; 7(10):e43192. View in: PubMed

Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma. PLoS One. 2012; 7(5):e37029. View in: PubMed

DNA methylation in multiple myeloma is weakly associated with gene transcription. PLoS One. 2012; 7(12):e52626. View in: PubMed

Deep clonal profiling of formalin fixed paraffin embedded clinical samples. PLoS One. 2012; 7(11):e50586. View in: PubMed

Cancer of the ampulla of Vater: analysis of the whole genome sequence exposes a potential therapeutic vulnerability. Genome Med. 2012; 4(7):56. View in: PubMed

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families. BMC Med Genet. 2012; 13:46. View in: PubMed

Advancing a clinically relevant perspective of the clonal nature of cancer. Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29):12054-9. View in: PubMed

Genome-wide copy-number variation analysis identifies common genetic variants at 20p13 associated with aggressiveness of prostate cancer. Carcinogenesis. 2011 Jul; 32(7):1057-62. View in: PubMed

Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. Nat Genet. 2011 Jun; 43(6):570-3. View in: PubMed

Initial genome sequencing and analysis of multiple myeloma. Nature. 2011 Mar 24; 471(7339):467-72. View in: PubMed

Next-generation sequencing of Coccidioides immitis isolated during cluster investigation. Emerg Infect Dis. 2011 Feb; 17(2):227-32. View in: PubMed

EphB2 SNPs and sporadic prostate cancer risk in African American men. PLoS One. 2011; 6(5):e19494. View in: PubMed

Molecular subtype analysis determines the association of advanced breast cancer in Egypt with favorable biology. BMC Womens Health. 2011; 11:44. View in: PubMed

Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors. Genome Res. 2011 Jan; 21(1):47-55. View in: PubMed

Racial disparities in prostate cancer incidence, biochemical recurrence, and mortality. Prostate Cancer. 2011; 2011:716178. View in: PubMed

Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population. Prostate. 2010 Nov 1; 70(15):1716-27. View in: PubMed

DNA methylation analysis determines the high frequency of genic hypomethylation and low frequency of hypermethylation events in plasma cell tumors. Cancer Res. 2010 Sep 1; 70(17):6934-44. View in: PubMed

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. Prostate. 2010 May 15; 70(7):735-44. View in: PubMed

Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans. Prostate. 2010 Feb 15; 70(3):270-5. View in: PubMed

Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. Proc Natl Acad Sci U S A. 2010 Feb 2; 107(5):2136-40. View in: PubMed

Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples. Nucleic Acids Res. 2010 Jan; 38(2):e9. View in: PubMed

Two independent prostate cancer risk-associated Loci at 11q13. Cancer Epidemiol Biomarkers Prev. 2009 Jun; 18(6):1815-20. View in: PubMed

Identification of copy number abnormalities and inactivating mutations in two negative regulators of nuclear factor-kappaB signaling pathways in Waldenstrom's macroglobulinemia. Cancer Res. 2009 Apr 15; 69(8):3579-88. View in: PubMed

Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. Hum Mol Genet. 2009 Apr 1; 18(7):1368-75. View in: PubMed

A novel prostate cancer susceptibility locus at 19q13. Cancer Res. 2009 Apr 1; 69(7):2720-3. View in: PubMed

Association of a germ-line copy number variation at 2p24. 3 and risk for aggressive prostate cancer. Cancer Res. 2009 Mar 15; 69(6):2176-9. View in: PubMed

Association of reported prostate cancer risk alleles with PSA levels among men without a diagnosis of prostate cancer. Prostate. 2009 Mar 1; 69(4):419-27. View in: PubMed

Genetic variants and family history predict prostate cancer similar to prostate-specific antigen. Clin Cancer Res. 2009 Feb 1; 15(3):1105-11. View in: PubMed

Sequence variants at 22q13 are associated with prostate cancer risk. Cancer Res. 2009 Jan 1; 69(1):10-5. View in: PubMed

Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases. Prostate. 2008 Dec 1; 68(16):1790-7. View in: PubMed

Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet. 2008 Oct; 40(10):1153-5. View in: PubMed

Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations. Prostate. 2008 Sep 1; 68(12):1257-62. View in: PubMed

Family-based samples can play an important role in genetic association studies. Cancer Epidemiol Biomarkers Prev. 2008 Sep; 17(9):2208-14. View in: PubMed

Association between sequence variants at 17q12 and 17q24. 3 and prostate cancer risk in European and African Americans. Prostate. 2008 May 15; 68(7):691-7. View in: PubMed

Chromosome 8q24 risk variants in hereditary and non-hereditary prostate cancer patients. Prostate. 2008 Apr 1; 68(5):489-97. View in: PubMed

Cumulative association of five genetic variants with prostate cancer. N Engl J Med. 2008 Feb 28; 358(9):910-9. View in: PubMed

PI3K/AKT pathway activation in acute myeloid leukaemias is not associated with AKT1 pleckstrin homology domain mutation. Br J Haematol. 2008 Feb; 140(3):344-7. View in: PubMed

Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP. J Natl Cancer Inst. 2007 Dec 19; 99(24):1836-44. View in: PubMed

Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus. Genome Res. 2007 Dec; 17(12):1717-22. View in: PubMed

Association between two unlinked loci at 8q24 and prostate cancer risk among European Americans. J Natl Cancer Inst. 2007 Oct 17; 99(20):1525-33. View in: PubMed

Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell. 2007 Aug; 12(2):131-44. View in: PubMed

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. Nature. 2007 Jul 26; 448(7152):439-44. View in: PubMed

Compelling evidence for a prostate cancer gene at 22q12. 3 by the International Consortium for Prostate Cancer Genetics. Hum Mol Genet. 2007 Jun 1; 16(11):1271-8. View in: PubMed

Molecular dissection of hyperdiploid multiple myeloma by gene expression profiling. Cancer Res. 2007 Apr 1; 67(7):2982-9. View in: PubMed

Fine-mapping the putative chromosome 17q21-22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis. Hum Genet. 2007 Mar; 121(1):49-55. View in: PubMed

Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). Prostate. 2007 Jan 1; 67(1):22-31. View in: PubMed

A comprehensive association study for genes in inflammation pathway provides support for their roles in prostate cancer risk in the CAPS study. Prostate. 2006 Oct 1; 66(14):1556-64. View in: PubMed

A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. J Med Genet. 2006 Jun; 43(6):507-11. View in: PubMed

Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27. Genome Res. 2005 Nov; 15(11):1477-86. View in: PubMed

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region. Hum Genet. 2005 Aug; 117(4):307-16. View in: PubMed

Evidence for a general cancer susceptibility locus at 3p24 in families with hereditary prostate cancer. Cancer Lett. 2005 Mar 10; 219(2):177-82. View in: PubMed

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest. 2005 Mar; 115(3):622-31. View in: PubMed

Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med. 2005 Jan; 257(1):18-26. View in: PubMed

Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer. Nat Genet. 2004 Sep; 36(9):979-83. View in: PubMed

Combined genome-wide scan for prostate cancer susceptibility genes. J Natl Cancer Inst. 2004 Aug 18; 96(16):1240-7. View in: PubMed

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004 Mar; 41(3):e32. View in: PubMed

Mutational analysis of susceptibility genes RNASEL/HPC1, ELAC2/HPC2, and MSR1 in sporadic prostate cancer. Genes Chromosomes Cancer. 2004 Feb; 39(2):119-25. View in: PubMed

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2004 Jan; 89(1):96-102. View in: PubMed

Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 2003 Oct 30; 349(18):1722-9. View in: PubMed

Effects of RNase L mutations associated with prostate cancer on apoptosis induced by 2',5'-oligoadenylates. Cancer Res. 2003 Oct 15; 63(20):6795-801. View in: PubMed

Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen and association study. Mutat Res. 2003 Jul 25; 528(1-2):45-53. View in: PubMed

Hyperparathyroidism-jaw tumour syndrome. J Intern Med. 2003 Jun; 253(6):634-42. View in: PubMed

RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet. 2002 Dec; 32(4):581-3. View in: PubMed

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002 Dec; 32(4):676-80. View in: PubMed

Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet. 2002 Oct; 32(2):321-5. View in: PubMed

Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. Am J Hum Genet. 2002 May; 70(5):1299-304. View in: PubMed

Transmission/disequilibrium tests of androgen receptor and glutathione S-transferase pi variants in prostate cancer families. Int J Cancer. 2002 Apr 20; 98(6):938-42. View in: PubMed

Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. Cancer Res. 2002 Mar 15; 62(6):1784-9. View in: PubMed

Identification of six novel genes by experimental validation of GeneMachine predicted genes. Gene. 2002 Feb 6; 284(1-2):203-13. View in: PubMed

Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk. Hum Genet. 2002 Feb; 110(2):122-9. View in: PubMed

Physical and transcript map of the hereditary prostate cancer region at xq27. Genomics. 2002 Jan; 79(1):41-50. View in: PubMed

Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer. Int J Cancer. 2001 Nov 20; 95(6):354-9. View in: PubMed

Linkage and association studies of prostate cancer susceptibility: evidence for linkage at 8p22-23. Am J Hum Genet. 2001 Aug; 69(2):341-50. View in: PubMed

High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. Eur J Hum Genet. 2001 May; 9(5):364-74. View in: PubMed

Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. Genomics. 2001 Apr 15; 73(2):211-22. View in: PubMed

Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer. Am J Hum Genet. 2001 Apr; 68(4):901-11. View in: PubMed

Linkage of prostate cancer susceptibility loci to chromosome 1. Hum Genet. 2001 Apr; 108(4):335-45. View in: PubMed

Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U. S. pedigrees. J Lipid Res. 2001 Feb; 42(2):159-69. View in: PubMed

Prostate cancer susceptibility genes: many studies, many results, no answers. Cancer Metastasis Rev. 2001; 20(3-4):155-64. View in: PubMed

The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. Biochim Biophys Acta. 2000 Apr 25; 1491(1-3):285-8. View in: PubMed

A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region. Genomics. 2000 Feb 15; 64(1):1-14. View in: PubMed

Linkage analyses at the chromosome 1 loci 1q24-25 (HPC1), 1q42. 2-43 (PCAP), and 1p36 (CAPB) in families with hereditary prostate cancer. Am J Hum Genet. 2000 Feb; 66(2):539-46. View in: PubMed

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet. 1999 Nov; 23(3):319-22. View in: PubMed

Early age at diagnosis in families providing evidence of linkage to the hereditary prostate cancer locus (HPC1) on chromosome 1. Cancer Res. 1997 Nov 1; 57(21):4707-9. View in: PubMed

Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. JAMA. 1997 Oct 15; 278(15):1251-5. View in: PubMed

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U. S. Investigation of NIDDM Genetics) Study Group. Genome Res. 1997 Feb; 7(2):165-78. View in: PubMed

Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science. 1996 Nov 22; 274(5291):1371-4. View in: PubMed

Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques. 1996 Jun; 20(6):1004-6, 1008-10. View in: PubMed

Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase. Genome Res. 1995 Oct; 5(3):312-7. View in: PubMed

Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays. Genomics. 1995 Apr 10; 26(3):451-60. View in: PubMed

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet. 1994 Dec; 55(6):1218-29. View in: PubMed

A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics. 1994 Nov 15; 24(2):351-6. View in: PubMed

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics. 1994 May 15; 21(2):394-402. View in: PubMed

Powered bySC CTSI