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)

Affiliations

¹ Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
² Division of Genetic and Genomic Medicine, University of California, Irvine, School of Medicine, Irvine, CA, USA.
³ Invitae, San Francisco, CA, USA.
⁴ Division of Genetics and Genomics, Boston Children's Hospital, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
⁵ Department of Medicine, Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
⁶ Baylor College of Medicine, Houston, TX, USA.
⁷ Texas Children's Hospital, Houston, TX, USA.
⁸ Division of Medical Genetics, Department of Pediatrics and Division of Hematology-Oncology, Department of Medicine, UCSF School of Medicine, San Francisco, CA, USA.
⁹ Clinical Genetics Program, San Francisco VA Health Care System, San Francisco, CA, USA.
¹⁰ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Free article

Marilyn M Li et al. Genet Med. 2020 Jul.

Free article

. 2020 Jul;22(7):1142-1148.

doi: 10.1038/s41436-020-0783-8. Epub 2020 Apr 23.

¹ Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
² Division of Genetic and Genomic Medicine, University of California, Irvine, School of Medicine, Irvine, CA, USA.
³ Invitae, San Francisco, CA, USA.
⁴ Division of Genetics and Genomics, Boston Children's Hospital, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
⁵ Department of Medicine, Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
⁶ Baylor College of Medicine, Houston, TX, USA.
⁷ Texas Children's Hospital, Houston, TX, USA.
⁸ Division of Medical Genetics, Department of Pediatrics and Division of Hematology-Oncology, Department of Medicine, UCSF School of Medicine, San Francisco, CA, USA.
⁹ Clinical Genetics Program, San Francisco VA Health Care System, San Francisco, CA, USA.
¹⁰ Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

No abstract available

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

References

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