Literature DB >> 32321997

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Marilyn M Li1, Elizabeth Chao2, Edward D Esplin3, David T Miller4, Katherine L Nathanson5, Sharon E Plon6,7, Maren T Scheuner8,9, Douglas R Stewart10.   

Abstract

Entities:  

Keywords:  next-generation sequencing (NGS); presumed germline pathogenic variants (PGPV); secondary findings; somatic variants; tumor testing

Mesh：

Year:  2020        PMID： 32321997     DOI： 10.1038/s41436-020-0783-8

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  14 in total

Review 1.  Clinical cancer genomic profiling.

Authors:  Debyani Chakravarty; David B Solit
Journal:  Nat Rev Genet       Date:  2021-03-24       Impact factor: 53.242

2.  Integrating Germline Genetics Into Precision Oncology Practice in the Veterans Health Administration: Challenges and Opportunities.

Authors:  Maren T Scheuner; Kenute Myrie; Jane Peredo; Lori Hoffman-Hogg; Margaret Lundquist; Stephanie L Guerra; Douglas Ball
Journal:  Fed Pract       Date:  2020-08

3.  Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.

Authors:  Schuyler Tong; W Patrick Devine; Joseph T Shieh
Journal:  JCO Precis Oncol       Date:  2022-05

4.  Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now.

Authors:  Anthony Scott; Arathi Mohan; Sarah Austin; Erika Amini; Shelby Raupp; Brittany Pannecouk; Michael J Kelley; Goutham Narla; Nithya Ramnath
Journal:  JCO Oncol Pract       Date:  2022-03-08

5.  To T or not to B: germline RUNX1 mutation preferences in pediatric ALL predisposition.

Authors:  Serine Avagyan; Anna L Brown
Journal:  J Clin Invest       Date:  2021-09-01       Impact factor: 19.456

6.  Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Authors:  He Li; Saumya D Sisoudiya; Bailey A Martin-Giacalone; Michael M Khayat; Shannon Dugan-Perez; Deborah A Marquez-Do; Michael E Scheurer; Donna Muzny; Eric Boerwinkle; Richard A Gibbs; Yueh-Yun Chi; Donald A Barkauskas; Tammy Lo; David Hall; Douglas R Stewart; Joshua D Schiffman; Stephen X Skapek; Douglas S Hawkins; Sharon E Plon; Aniko Sabo; Philip J Lupo
Journal:  J Natl Cancer Inst       Date:  2021-07-01       Impact factor: 13.506

7.  Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Marc Tischkowitz; Judith Balmaña; William D Foulkes; Paul James; Joanne Ngeow; Rita Schmutzler; Nicoleta Voian; Myra J Wick; Douglas R Stewart; Tuya Pal
Journal:  Genet Med       Date:  2021-05-11       Impact factor: 8.864

8.  Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Authors:  Peter Horak; Malachi Griffith; Arpad M Danos; Beth A Pitel; Subha Madhavan; Xuelu Liu; Cynthia Chow; Heather Williams; Leigh Carmody; Lisa Barrow-Laing; Damian Rieke; Simon Kreutzfeldt; Albrecht Stenzinger; David Tamborero; Manuela Benary; Padma Sheila Rajagopal; Cristiane M Ida; Harry Lesmana; Laveniya Satgunaseelan; Jason D Merker; Michael Y Tolstorukov; Paulo Vidal Campregher; Jeremy L Warner; Shruti Rao; Maya Natesan; Haolin Shen; Jeffrey Venstrom; Somak Roy; Kayoko Tao; Rashmi Kanagal-Shamanna; Xinjie Xu; Deborah I Ritter; Kym Pagel; Kilannin Krysiak; Adrian Dubuc; Yassmine M Akkari; Xuan Shirley Li; Jennifer Lee; Ian King; Gordana Raca; Alex H Wagner; Marylin M Li; Sharon E Plon; Shashikant Kulkarni; Obi L Griffith; Debyani Chakravarty; Dmitriy Sonkin
Journal:  Genet Med       Date:  2022-01-29       Impact factor: 8.864

9.  Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.

Authors:  Jung Kim; Matthew Gianferante; Danielle M Karyadi; Stephen W Hartley; Megan N Frone; Wen Luo; Leslie L Robison; Gregory T Armstrong; Smita Bhatia; Michael Dean; Meredith Yeager; Bin Zhu; Lei Song; Joshua N Sampson; Yutaka Yasui; Wendy M Leisenring; Seth A Brodie; Kelvin C de Andrade; Fernanda P Fortes; Alisa M Goldstein; Payal P Khincha; Mitchell J Machiela; Mary L McMaster; Michael L Nickerson; Leatrisse Oba; Alexander Pemov; Maisa Pinheiro; Melissa Rotunno; Karina Santiago; Talia Wegman-Ostrosky; W Ryan Diver; Lauren Teras; Neal D Freedman; Belynda D Hicks; Bin Zhu; Mingyi Wang; Kristine Jones; Amy A Hutchinson; Casey Dagnall; Sharon A Savage; Margaret A Tucker; Stephen J Chanock; Lindsay M Morton; Douglas R Stewart; Lisa Mirabello
Journal:  JNCI Cancer Spectr       Date:  2021-01-23

10.  Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Authors:  Stephen E Lincoln; Robert L Nussbaum; Allison W Kurian; Sarah M Nielsen; Kingshuk Das; Scott Michalski; Shan Yang; Nhu Ngo; Amie Blanco; Edward D Esplin
Journal:  JAMA Netw Open       Date:  2020-10-01
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