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Germline EGFR mutations and familial lung cancer

Geoffrey R. Oxnard ;Ruthia Chen ; Jennifer C. Pharr; Diane R. Koeller ; Arrien A. Bertram ; Suzanne E. Dahlberg ; Irene Rainville ; Kate Shane-Carson; Kelly A. Taylor; Alicia Sable-Hunt; Lynette M. Sholl ; Craig C. Teerlink ;Alun Thomas; Lisa A. Cannon-Albright ; André P. Fay; Patrícia Ashton-Prolla ; Hao Yang; Mary M. Salvatore; Bonnie J. Addario; Pasi A. Jänne ; David P. Carbone  Georgia L. Wiesner  and Judy E. Garber 

Lucas D. Richter, Theordore J. Morley, Gillian W. Hooker, Holly L.Peay, Nancy J. Cox, Douglas M. Ruderfer. Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders.


Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med (2021).


Yoneda ZT, Anderson KC, Quintana JA, O’Neill MJ, Sims RA, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Ye F, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB. Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2021 Sep 8. doi: 10.1001/jamacardio.2021.3370. Epub ahead of print. PMID: 34495297.


Yoneda ZT, Anderson KC, Quintana JA, O’Neill MJ, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM. Age-Related Prevalence of Rare Disease-Associated Variants in 1293 Patients with Early-Onset Atrial Fibrillation. Heart Rhythm Journal. 2021 Aug 1. doi: 10.1016/j.hrthm.2021.06.946.


Mann C, Goodhue B, Guillard A, Slamon J, Newman R, Zhao Z, Ding T, Petrelli G, Dudek M. The COVID-19 pandemic and reproductive genetic counseling: Changes in access and service delivery at an academic medical center in the United States. J Genet Couns. 2021 Aug;30(4):958-968. doi: 10.1002/jgc4.1462. Epub 2021 Jul 5. PMID: 34224635; PMCID: PMC8426661.


Jain R, Kazmerski TM, Zuckerwise LC, West NE, Montemayor K, Aitken ML, Cheng E, Roe AH, Wilson A, Mann C, Ladores S, Sjoberg J, Poranski M, Taylor-Cousar JL. Pregnancy in cystic fibrosis: Review of the literature and expert recommendations. J Cyst Fibros. 2021 Aug 26:S1569-1993(21)01338-2. doi: 10.1016/j.jcf.2021.07.019. Epub ahead of print. PMID: 34456158.


Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021 Jul 6. doi: 10.1038/s41436-021-01179-w. Epub ahead of print. PMID: 34230636.


Yoneda ZT, Anderson KC, Estrada JC, Quintana JA, Strickland T, Montgomery JA, Michaud GF, Roden DM, Shoemaker MB. Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy. JACC Clin Electrophysiol. 2021 Mar;7(3):410-412. doi: 10.1016/j.jacep.2020.11.006. Epub 2021 Jan 27. PMID: 33516708.


Garcia CK, Talbert JL. Pulmonary Fibrosis Predisposition Overview. 2005 Jan 21 [updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301408.


Smith RB, Solem EP, Metz EC, Wheeler FC, Phillips JA 3rd, Yenamandra A. Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis. Am J Med Genet A. 2021 Apr;185(4):1222-1227. doi: 10.1002/ajmg.a.62071. Epub 2021 Jan 8. PMID: 33415784.


Tezak AL, Zuniga B, Weidner A, Cragun D, Pal T. Qualitative Methods for Refining a Web-Based Educational Tool for Patients Focused on Inherited Cancer Predisposition. J Cancer Educ. 2021 Jan 5. doi: 10.1007/s13187-020-01929-5. Epub ahead of print. PMID: 33400205.


Cragun D, Weidner A, Tezak A, Zuniga B, Wiesner GL, Pal T. A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer. J Natl Compr Canc Netw. 2020 Jul;18(7):841-847. doi: 10.6004/jnccn.2020.7546. PMID: 32634774.


Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T. Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers. Cancer. 2020 Apr 15;126(8):1651-1655. doi: 10.1002/cncr.32715. Epub 2020 Jan 22. PMID: 31967672; PMCID: PMC7103510.