Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma
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作者:
Liu, Hangqi
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Liu, Hangqi
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Zhang, Zhiwen
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Zhang, Zhiwen
[1
]
Chen, Longyun
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Chen, Longyun
[1
]
Pang, Junyi
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Pang, Junyi
[1
]
Wu, Huanwen
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Wu, Huanwen
[1
]
Liang, Zhiyong
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Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R ChinaChinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Liang, Zhiyong
[1
]
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[1] Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Mol Pathol Res Ctr, Dept Pathol,State Key Lab Complex Severe & Rare D, Beijing, Peoples R China
Ovarian clear cell carcinoma (OCCC) is aggressive and drug-resistant. The prevalence of homologous recombination repair (HRR) gene mutations and homologous recombination deficiency (HRD) remains largely unknown. It is also not clear whether the commonly used molecular-based classification for endometrial carcinoma (EC) is potentially applicable in OCCC. In this study, surgically resected samples were collected from 44 patients with OCCC. Genomic alterations were determined using next-generation sequencing. HRD was estimated by genomic instability. Of 44 patients with OCCC, two (4.5%) harbored likely pathogenic mutations in HRR genes. Notably, no pathogenic or likely pathogenic mutations were found in BRCA1/2. A total of 24 variants of uncertain significance (VUS) in HRR-related genes occurred in 18 (40.9%) patients. HRD was observed in only one case (2.3%). In addition, TP53 mutation and microsatellite instability-high (MSI-H) were identified in three patients (6.8%) and in one patient (2.3%), respectively. TP53 mutation was significantly associated with disease-free survival and overall survival. No POLE mutations were found. In conclusion, our results revealed a very low prevalence of HRR gene mutations and HRD in OCCC. Moreover, TP53 mutations and MSI-H are uncommon, while POLE mutations are extremely rare in OCCC. Our findings indicate that the evaluation of HRR gene mutations, HRD status, POLE mutations, and MSI-H may have limited clinical significance for OCCC treatment and prognostic stratification.
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Wayne State Univ, Karmanos Canc Inst, Dept Oncol, Div Gynecol Oncol,Sch Med, Detroit, MI 48201 USAWayne State Univ, Karmanos Canc Inst, Dept Oncol, Div Gynecol Oncol,Sch Med, Detroit, MI 48201 USA
Wallbillich, John J.
Morris, Robert T.
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Wayne State Univ, Karmanos Canc Inst, Dept Oncol, Div Gynecol Oncol,Sch Med, Detroit, MI 48201 USAWayne State Univ, Karmanos Canc Inst, Dept Oncol, Div Gynecol Oncol,Sch Med, Detroit, MI 48201 USA
Morris, Robert T.
Ali-Fehmi, Rouba
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Wayne State Univ, Karmanos Canc Inst, Dept Pathol, Sch Med, Detroit, MI 48201 USAWayne State Univ, Karmanos Canc Inst, Dept Oncol, Div Gynecol Oncol,Sch Med, Detroit, MI 48201 USA
机构:
UNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, AustraliaUNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, Australia
Pitiyarachchi, Omali
Lee, Yeh Chen
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UNSW Sydney, Fac Med & Hlth, Sch Clin Med, Sydney, NSW, Australia
Prince Wales Hosp, Dept Med Oncol, Randwick, NSW, Australia
Royal Hosp Women, Randwick, NSW, AustraliaUNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, Australia
Lee, Yeh Chen
Ramus, Susan J.
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UNSW Sydney, Fac Med & Hlth, Sch Clin Med, Sydney, NSW, AustraliaUNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, Australia
Ramus, Susan J.
deFazio, Anna
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Westmead Inst Med Res, Ctr Canc Res, Westmead, NSW, Australia
Westmead Hosp, Westmead, NSW, Australia
Univ Sydney, Fac Med & Hlth, Camperdown, NSW, AustraliaUNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, Australia
deFazio, Anna
Friedlander, Michael
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UNSW Sydney, Fac Med & Hlth, Sch Clin Med, Sydney, NSW, Australia
Prince Wales Hosp, Dept Med Oncol, Randwick, NSW, Australia
Royal Hosp Women, Randwick, NSW, AustraliaUNSW Sydney, Fac Med & Hlth, Sch Med Sci, Sydney, NSW, Australia
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Krumm, Niklas
Khasnavis, Nithisha S.
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Univ Washington, Sch Med, Dept Obstet & Gynecol, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Khasnavis, Nithisha S.
Radke, Marc
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Univ Washington, Sch Med, Dept Obstet & Gynecol, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Radke, Marc
Banda, Kalyan
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Univ Washington, Sch Med, Dept Med, Oncol Div, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Banda, Kalyan
Davies, Helen R.
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Univ Cambridge, Acad Dept Med Genet, Sch Clin Med, Cambridge, England
Univ Cambridge, Early Canc Inst, Cambridge, EnglandUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Davies, Helen R.
Pennil, Christopher
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Univ Washington, Sch Med, Dept Obstet & Gynecol, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Pennil, Christopher
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Mclean, Kathryn
Paulson, Vera A.
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Paulson, Vera A.
Konnick, Eric Q.
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Konnick, Eric Q.
Johnson, Winslow C.
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Johnson, Winslow C.
Huff, Grogan
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Huff, Grogan
Nik-Zainal, Serena
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Univ Cambridge, Acad Dept Med Genet, Sch Clin Med, Cambridge, EnglandUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Nik-Zainal, Serena
Swisher, Elizabeth M.
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Univ Washington, Sch Med, Dept Obstet & Gynecol, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Swisher, Elizabeth M.
Lockwood, Christina M.
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Lockwood, Christina M.
Salipante, Stephen J.
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Univ Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA
Univ Washington, Dept Lab Med & Pathol, Box 357110,1959 NE Pacific St, Seattle, WA 98195 USAUniv Washington, Dept Lab Med & Pathol, Sch Med, Seattle, WA USA