Open AccessTumor and germline next generation sequencing in high grade serous cancer: experience from a large population‐based testing program
Author(s) -
Care Melanie,
McCuaig Jeanna,
Clarke Blaise,
Grenier Sylvie,
Kim Raymond H,
Rouzbahman Marjan,
Stickle Natalie,
Bernardini Marcus Q,
Stockley Tracy L.
Publication year - 2021
Publication title -
molecular oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.332
H-Index - 88
eISSN - 1878-0261
pISSN - 1574-7891
DOI - 10.1002/1878-0261.12817
Subject(s) - germline , concordance , genetic testing , population , cancer , oncology , medicine , serous fluid , germline mutation , somatic cell , biology , genetics , mutation , gene , environmental health
The presence of somatic or germline BRCA1/2 pathogenic variants impacts the effectiveness of PARP inhibitor therapy in high‐grade serous ovarian cancer. This study demonstrates that a large‐scale tumor testing program can effectively and accurately identify both germline and somatic variants. Nearly 60% of pathogenic variants are somatic, emphasizing the importance of tumor testing in care pathways of this patient population.