دورية أكاديمية

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

التفاصيل البيبلوغرافية
العنوان: Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.
المؤلفون: Rana HQ; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Harvard Medical School, Boston, MA 02115, USA., Koeller DR; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Levine AS; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Chittenden A; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Isidro RA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Manam MD; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Buehler RM; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA., Manning DK; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Barletta JA; Harvard Medical School, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Hornick JL; Harvard Medical School, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Garber JE; Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Division of Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02215, USA.; Harvard Medical School, Boston, MA 02115, USA., Ghazani AA; Harvard Medical School, Boston, MA 02115, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Int2grate Oncology Consortium
المصدر: Cancers [Cancers (Basel)] 2024 Feb 26; Vol. 16 (5). Date of Electronic Publication: 2024 Feb 26.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI
مستخلص: Standard methods of variant assessment in hereditary cancer susceptibility genes are limited by the lack of availability of key supporting evidence. In cancer, information derived from tumors can serve as a useful source in delineating the tumor behavior and the role of germline variants in tumor progression. We have previously demonstrated the value of integrating tumor and germline findings to comprehensively assess germline variants in hereditary cancer syndromes. Building on this work, herein, we present the development and application of the INT 2 GRATE|HPPGL platform. INT 2 GRATE (INTegrated INTerpretation of GeRmline And Tumor gEnomes) is a multi-institution oncology consortium that aims to advance the integrated application of constitutional and tumor data and share the integrated variant information in publicly accessible repositories. The INT 2 GRATE|HPPGL platform enables automated parsing and integrated assessment of germline, tumor, and genetic findings in hereditary paraganglioma-pheochromocytoma syndromes (HPPGLs). Using INT 2 GRATE|HPPGL, we analyzed 8600 variants in succinate dehydrogenase (SDHx) genes and their associated clinical evidence. The integrated evidence includes germline variants in SDHx genes; clinical genetics evidence: personal and family history of HPPGL-related tumors; tumor-derived evidence: somatic inactivation of SDHx alleles, KIT and PDGFRA status in gastrointestinal stromal tumors (GISTs), multifocal or extra-adrenal tumors, and metastasis status; and immunohistochemistry staining status for SDHA and SDHB genes. After processing, 8600 variants were submitted programmatically from the INT 2 GRATE|HPPGL platform to ClinVar via a custom-made INT 2 GRATE|HPPGL variant submission schema and an application programming interface (API). This novel integrated variant assessment and data sharing in hereditary cancers aims to improve the clinical assessment of genomic variants and advance precision oncology.
Competing Interests: The authors declare no conflicts of interest that could influence the representation or interpretation of the reported research results.
References: Pancreas. 2021 Apr 1;50(4):469-493. (PMID: 33939658)
MethodsX. 2022 Jun 18;9:101761. (PMID: 35774415)
Hum Pathol. 2010 Jun;41(6):805-14. (PMID: 20236688)
Lancet Diabetes Endocrinol. 2023 May;11(5):345-361. (PMID: 37011647)
Nat Rev Endocrinol. 2021 Jul;17(7):435-444. (PMID: 34021277)
J Med Genet. 2018 Jun;55(6):384-394. (PMID: 29386252)
World J Gastroenterol. 2015 Feb 28;21(8):2303-14. (PMID: 25741136)
Cancer Cell. 2013 Jun 10;23(6):739-52. (PMID: 23707781)
J Clin Endocrinol Metab. 2018 Jan 1;103(1):295-305. (PMID: 29126304)
Cancer Genet. 2012 Jan-Feb;205(1-2):1-11. (PMID: 22429592)
Sci Rep. 2019 Jul 15;9(1):10244. (PMID: 31308404)
Endocr Relat Cancer. 2020 Dec;27(12):R451-R463. (PMID: 33112834)
Semin Diagn Pathol. 2006 May;23(2):91-102. (PMID: 17193822)
Hum Pathol. 2018 Jan;71:47-54. (PMID: 29079178)
Nucleic Acids Res. 2015 Feb 18;43(3):e19. (PMID: 25428359)
Cancers (Basel). 2020 Nov 03;12(11):. (PMID: 33153035)
Mod Pathol. 2015 Jun;28(6):807-21. (PMID: 25720320)
Genes Chromosomes Cancer. 2019 Nov;58(11):798-803. (PMID: 31124195)
Data Brief. 2021 Dec 01;39:107653. (PMID: 34934780)
Anticancer Res. 2017 Feb;37(2):805-812. (PMID: 28179334)
Histopathology. 2022 Aug;81(2):264-269. (PMID: 35546442)
Eur J Med Genet. 2021 Dec;64(12):104359. (PMID: 34628056)
J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42. (PMID: 24893135)
J Endocr Soc. 2022 Jul 03;6(9):bvac105. (PMID: 35919261)
Front Oncol. 2022 Aug 25;12:942741. (PMID: 36091175)
Int J Clin Exp Pathol. 2009 Nov 25;3(2):169-76. (PMID: 20126585)
فهرسة مساهمة: Keywords: INT2GRATE; INT2GRATE Oncology Consortium; PCC; PGL; germline VUS; hereditary paraganglioma–pheochromocytoma syndromes (HPPGLs); somatic and germline integration; tumor signature profile
تواريخ الأحداث: Date Created: 20240313 Latest Revision: 20240319
رمز التحديث: 20240319
مُعرف محوري في PubMed: PMC10931192
DOI: 10.3390/cancers16050947
PMID: 38473309
قاعدة البيانات: MEDLINE
الوصف
تدمد:2072-6694
DOI:10.3390/cancers16050947