Clinical Education Center

Reduced H3K27me3 expression in radiation-associated angiosarcoma of the breast.

Authors: Mentzel T, Kiss K
Virchows Arch. 2017 Oct 5. doi: 10.1007/s00428-017-2242-8. [Epub ahead of print]

Specialties: Genetics, Oncology, Pathology, Pathology, Anatomic, Pathology, Laboratory Medicine, Women's Health/OB/GYN

CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Authors: Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ
Mol Cytogenet 2017;10:33

Specialties: Genetics, Neurology, Pediatrics

CD13 is a marker for onychofibroblasts within nail matrix onychodermis: Comparison of its expression patterns in the nail unit and in the hair follicle.

Authors: Park JH, Lee DY, Jang KT, Ha SY, Kwon GY, Lee KH, Shim JS, Kwon EJ
J Cutan Pathol. 2017;44(11):909-914.

Specialties: Dermatology, Genetics, Pathology, Laboratory Medicine

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.

Authors: Samimi G, Bernardini MQ, Brody LC, Caga-Anan CF, Campbell IG, Chenevix-Trench G, Couch FJ, Dean M, de Hullu JA, Domchek SM, Drapkin R, Spencer Feigelson H, Friedlander M, Gaudet MM, Harmsen MG, Hurley K, James PA, Kwon JS, Lacbawan F, Lheureux S, Mai PL, Mechanic LE, Minasian LM, Myers ER, Robson ME, Ramus SJ, Rezende LF, Shaw PA, Slavin TP, Swisher EM, Takenaka M, Bowtell DD, Sherman ME.
J Clin Oncol. 2017;35:2329-2337.

Specialties: Clinical and Lab healthcare professionals, Genetics, Nurse practitioners, Oncology, Pathology, PCPs, Women's Health/OB/GYN

Maternal Chromosome Xp Deletion Identified by Prenatal Cell-free DNA Screening.

Authors: Ilagan BJ, Maxwell MD, Fisher BM, Milanovich J, Owen R, Anderson B, Zhang K, Strom CM
Prenat Diagn. 2017. doi: 10.1002/pd.5103. [Epub ahead of print]

Specialties: Genetics, Women's Health/OB/GYN

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A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Authors: Reittinger AM1, Helm BM2, Boles DJ, Gadi IK, Schrier Vergano SA
Am J Med Genet A. 2017 Jun 27. doi: 10.1002/ajmg.a.38344. [Epub ahead of print]

Specialties: Genetics, Pediatrics, Women's Health/OB/GYN

Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc

Authors: Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL.
Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716

Specialties: Genetics, Hematology/Hemostasis/Thrombosis

Histological, immunohistological and molecular characteristics of intraductal precursor of carcinoma ex pleomorphic adenoma support a multistep carcinogenic process.

Authors: Ihrler S, Guntinas-Lichius O, Agaimy A, Wolf A, Mollenhauer M.
Virchows Arch. 2017;470:601-609

Specialties: Genetics, Oncology, Pathology

R634W KIT Mutation in an Adult With Systemic Mastocytosis.

Authors: Astle JM, Rose MG, Racke FK, Tormey CA, Siddon AJ.
Lab Med. 2017 doi: 10.1093/labmed/lmx026. [Epub ahead of print]

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

Authors: Li Y, Arellano AR, Bare LA, Bender RA, Strom CM, Devlin JJ
Value Health. 2017;20:547-555.

Specialties: Clinical and Lab healthcare professionals, Genetics, Nurse practitioners, Oncology, Pathology, Laboratory Medicine, Women's Health/OB/GYN