Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Autor: Landrith T; 1Ambry Genetics, Aliso Viejo, CA USA., Li B; 1Ambry Genetics, Aliso Viejo, CA USA., Cass AA; 1Ambry Genetics, Aliso Viejo, CA USA., Conner BR; 1Ambry Genetics, Aliso Viejo, CA USA., LaDuca H; 1Ambry Genetics, Aliso Viejo, CA USA., McKenna DB; 2University of Pennsylvania, Philadelphia, PA USA., Maxwell KN; 2University of Pennsylvania, Philadelphia, PA USA., Domchek S; 2University of Pennsylvania, Philadelphia, PA USA., Morman NA; OhioHealth Bing Cancer Center, Columbus, OH USA., Heinlen C; OhioHealth Bing Cancer Center, Columbus, OH USA., Wham D; 4Aurora St. Luke's Medical Center, Milwaukee, WI USA., Koptiuch C; 5Huntsman Cancer Institute, Salt Lake City, UT USA., Vagher J; 5Huntsman Cancer Institute, Salt Lake City, UT USA., Rivera R; 6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA., Bunnell A; 6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA., Patel G; 6Texas Oncology, El Paso, Fort Worth, and Austin, TX USA., Geurts JL; 7Medical College of Wisconsin, Milwaukee, WI USA., Depas MM; 7Medical College of Wisconsin, Milwaukee, WI USA., Gaonkar S; 8Dana Farber Cancer Institute, Boston, MA USA., Pirzadeh-Miller S; 9University of Texas Southwestern Medical Center, Dallas, TX USA., Krukenberg R; 10Community Health Network, Indianapolis, IN USA., Seidel M; 11Massachusetts General Hospital, Boston, MA USA., Pilarski R; 12Ohio State University Wexner Medical Center and James Comprehensive Cancer Center, Columbus, OH USA., Farmer M; 13University of Alabama at Birmingham, Birmingham, AL USA., Pyrtel K; Advocate Health, Chicago, IL USA., Milliron K; 15University of Michigan, Ann Arbor, MI USA., Lee J; 16Cedars-Sinai Medical Center, Los Angeles, CA USA., Hoodfar E; 17Kaiser Permanente San Jose Medical Center, San Jose, CA USA., Nathan D; 18University of California at Irvine, Irvine, CA USA., Ganzak AC; 19Smilow Cancer Center, Yale New Haven Health, New Haven, CT USA., Wu S; 1Ambry Genetics, Aliso Viejo, CA USA., Vuong H; 1Ambry Genetics, Aliso Viejo, CA USA., Xu D; 1Ambry Genetics, Aliso Viejo, CA USA., Arulmoli A; 1Ambry Genetics, Aliso Viejo, CA USA., Parra M; 1Ambry Genetics, Aliso Viejo, CA USA., Hoang L; 1Ambry Genetics, Aliso Viejo, CA USA., Molparia B; 1Ambry Genetics, Aliso Viejo, CA USA., Fennessy M; 1Ambry Genetics, Aliso Viejo, CA USA., Fox S; 1Ambry Genetics, Aliso Viejo, CA USA., Charpentier S; 1Ambry Genetics, Aliso Viejo, CA USA., Burdette J; 1Ambry Genetics, Aliso Viejo, CA USA., Pesaran T; 1Ambry Genetics, Aliso Viejo, CA USA., Profato J; 1Ambry Genetics, Aliso Viejo, CA USA., Smith B; 1Ambry Genetics, Aliso Viejo, CA USA., Haynes G; 1Ambry Genetics, Aliso Viejo, CA USA., Dalton E; 1Ambry Genetics, Aliso Viejo, CA USA., Crandall JR; 1Ambry Genetics, Aliso Viejo, CA USA., Baxter R; 1Ambry Genetics, Aliso Viejo, CA USA., Lu HM; 1Ambry Genetics, Aliso Viejo, CA USA., Tippin-Davis B; 1Ambry Genetics, Aliso Viejo, CA USA., Elliott A; 1Ambry Genetics, Aliso Viejo, CA USA., Chao E; 1Ambry Genetics, Aliso Viejo, CA USA.; 18University of California at Irvine, Irvine, CA USA., Karam R; 1Ambry Genetics, Aliso Viejo, CA USA.

Publikováno v: NPJ precision oncology [NPJ Precis Oncol] 2020 Feb 24; Vol. 4, pp. 4. Date of Electronic Publication: 2020 Feb 24 (Print Publication: 2020).

Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer.

Autor: Li Y; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., He Y; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Butler W; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Xu L; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Urology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China., Chang Y; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Pharmacology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China., Lei K; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA.; General Surgery, Zhejiang Provincial People's Hospital, Hangzhou Medical College, Zhejiang 310014, China., Zhang H; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Zhou Y; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Gao AC; Department of Urology and Cancer Center, University of California Davis School of Medicine, Sacramento, CA 95616, USA., Zhang Q; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang 110122, China., Taylor DG; Department of Molecular, Cellular, Developmental Biology, University of California, Los Angeles, CA 90095, USA., Cheng D; Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Farber-Katz S; Ambry Genetics, Aliso Viejo, CA 92656, USA., Karam R; Ambry Genetics, Aliso Viejo, CA 92656, USA., Landrith T; Ambry Genetics, Aliso Viejo, CA 92656, USA., Li B; Ambry Genetics, Aliso Viejo, CA 92656, USA., Wu S; Ambry Genetics, Aliso Viejo, CA 92656, USA., Hsuan V; Ambry Genetics, Aliso Viejo, CA 92656, USA., Yang Q; School of Nursing, Duke University, Durham, NC 27710, USA., Hu H; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Chen X; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Flowers M; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., McCall SJ; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Lee JK; Division of Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA., Smith BA; Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Park JW; Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Goldstein AS; Department of Molecular, Cellular, Developmental Biology, University of California, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Witte ON; Department of Microbiology, Immunology and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Wang Q; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA., Rettig MB; Division of Hematology-Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.; VA Greater Los Angeles Healthcare System, Los Angeles, CA 90073, USA., Armstrong AJ; Division of Medical Oncology, Department of Medicine, Duke Cancer Institute, Duke University Medical Center, Durham, NC 27710, USA., Cheng Q; Department of Surgery, Duke University School of Medicine, Durham NC27710, USA. jiaoti.huang@duke.edu q.cheng@duke.edu., Huang J; Department of Pathology, Duke University School of Medicine, Durham, NC 27710, USA. jiaoti.huang@duke.edu q.cheng@duke.edu.

Publikováno v: Science translational medicine [Sci Transl Med] 2019 Dec 04; Vol. 11 (521).

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Autor: Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Krempely K; Ambry Genetics, Aliso Viejo, California., Roberts ME; GeneDx, Gaithersburg, Maryland., Anderson MJ; Invitae Corporation, San Francisco, California., Carneiro F; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Chao E; Ambry Genetics, Aliso Viejo, California.; University of California Irvine, Irvine, California., Dixon K; University of British Columbia, Vancouver, BC, Canada., Figueiredo J; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Ghosh R; Baylor College of Medicine, Houston, Texas., Huntsman D; University of British Columbia, Vancouver, BC, Canada., Kaurah P; University of British Columbia, Vancouver, BC, Canada., Kesserwan C; St. Jude Children's Research Hospital, Memphis, Tennessee., Landrith T; Ambry Genetics, Aliso Viejo, California., Li S; Ambry Genetics, Aliso Viejo, California., Mensenkamp AR; Radboud University Medical Centre, Nijmegen, the Netherlands., Oliveira C; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Pardo C; Invitae Corporation, San Francisco, California., Pesaran T; Ambry Genetics, Aliso Viejo, California., Richardson M; University of British Columbia, Vancouver, BC, Canada., Slavin TP; Department of Medical Oncology and Therapeutics Research, City of Hope, Duarte, California., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Australia., Trapp M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Witkowski L; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Yi CS; Ambry Genetics, Aliso Viejo, California., Zhang L; Memorial Sloan Kettering, Memorial Sloan Kettering Cancer Center, New York, New York., Plon SE; Baylor College of Medicine, Houston, Texas., Schrader KA; University of British Columbia, Vancouver, BC, Canada., Karam R; Ambry Genetics, Aliso Viejo, California.

Publikováno v: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1553-1568.

Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

Autor: Witt, Dennis¹ (AUTHOR) dennis.witt@med.uni‐tuebingen.de, Faust, Ulrike¹ (AUTHOR), Strobl‐Wildemann, Gertrud² (AUTHOR), Sturm, Marc¹ (AUTHOR), Buchert, Rebecca¹ (AUTHOR), Zuleger, Theresia¹ (AUTHOR), Admard, Jakob¹ (AUTHOR), Casadei, Nicolas^1,3 (AUTHOR), Ossowski, Stephan¹ (AUTHOR), Haack, Tobias B.¹ (AUTHOR), Rieß, Olaf¹ (AUTHOR), Schroeder, Christopher¹ (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Jun2023, Vol. 11 Issue 6, p1-8. 8p.

Blood-Based mRNA Tests as Emerging Diagnostic Tools for Personalised Medicine in Breast Cancer.

Autor: Čelešnik, Helena^1,2 (AUTHOR), Potočnik, Uroš^1,2,3 (AUTHOR) uros.potocnik@um.si

Publikováno v: Cancers. Feb2023, Vol. 15 Issue 4, p1087. 23p.