Intronic Germline <i>DICER1</i> Variants in Patients With Sertoli-Leydig Cell Tumor-Reference-Cited by-同舟云学术

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor

Published:2023-09 Issue:7 Volume: Page:
ISSN:2473-4284
Container-title:JCO Precision Oncology
language:en
Short-container-title:JCO Precision Oncology

Author:

Fraire Claudette R.¹^ORCID,Mallinger Paige R.²³⁴,Hatton Jessica N.⁵^ORCID,Kim Jung⁵^ORCID,Dickens David S.⁶^ORCID,Argenta Peter A.⁷,Milanovich Samuel⁸,Hartshorne Taylor¹^ORCID,Carey David J.⁹,Haley Jeremy S.⁹,Urban Gretchen⁹,Lee Jeon¹⁰^ORCID,Hill D. Ashley¹¹^ORCID,Stewart Douglas R.⁵^ORCID,Schultz Kris Ann P.²³⁴^ORCID,Chen Kenneth S.¹¹²^ORCID

Affiliation:

1. Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX

2. International Pleuropulmonary Blastoma (PPB)/DICER1 Registry, Children's Minnesota, Minneapolis, MN

3. International Ovarian and Testicular Stromal Tumor (OTST) Registry, Children's Minnesota, Minneapolis, MN

4. Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN

5. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD

6. Department of Pediatrics, University of Iowa, Iowa City, IA

7. Department of Obstetrics, Gynecology and Women's Health, University of Minnesota, Minneapolis, MN

8. Pediatric Hematology and Oncology, Sanford Roger Maris Cancer Center, Fargo, ND

9. Department of Genomic Health, Geisinger Clinic, Danville, PA

10. Lyda Hill Department of Bioinformatics, UT Southwestern Medical Center, Dallas, TX

11. Department of Pathology and Immunology, Washington University, St Louis, MO

12. Children's Medical Center Research Institute, UT Southwestern Medical Center, Dallas, TX

Abstract

Sequencing introns in cancer predisposition genes detects novel loss-of-function variants.

Publisher

American Society of Clinical Oncology (ASCO)

Subject

Cancer Research,Oncology

Link

https://ascopubs.org/doi/pdfdirect/10.1200/PO.23.00189

Reference30 articles.

1. Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1

2. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model

3. DICER1 Mutations in Familial Pleuropulmonary Blastoma

4. Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes