دورية أكاديمية
أعرض في EDS

Pathogenic germline variants in patients with endometrial cancer of diverse ancestry.

التفاصيل البيبلوغرافية
العنوان: Pathogenic germline variants in patients with endometrial cancer of diverse ancestry.
المؤلفون: Liu YL; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Gordhandas S; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Arora K; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Rios-Doria E; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Cadoo KA; St. James's Hospital, Trinity St. James's Cancer Institute, Dublin, Ireland., Catchings A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Maio A; Sloan Kettering Institute, New York, New York, USA., Kemel Y; Sloan Kettering Institute, New York, New York, USA., Sheehan M; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Salo-Mullen E; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Zhou Q; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Iasonos A; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Carrot-Zhang J; Department of Computational Oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Manning-Geist B; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Sia TY; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Selenica P; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Vanderbilt C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Misyura M; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Latham A; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Bandlamudi C; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Berger MF; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Hamilton JG; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Psychiatry and Behavioral Sciences, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Psychiatry, Weill Cornell Medical College, New York, New York, USA., Makker V; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Abu-Rustum NR; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York, USA., Ellenson LH; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Offit K; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Mandelker DL; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Stadler Z; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Weigelt B; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Aghajanian C; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Medicine, Weill Cornell Medical College, New York, New York, USA., Brown C; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York, USA.
المصدر: Cancer [Cancer] 2024 Feb 15; Vol. 130 (4), pp. 576-587. Date of Electronic Publication: 2023 Oct 27.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 0374236 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0142 (Electronic) Linking ISSN: 0008543X NLM ISO Abbreviation: Cancer Subsets: MEDLINE
أسماء مطبوعة: Publication: <2005- >: Hoboken, NJ : Wiley
Original Publication: New York [etc.] Published for the American Cancer Society by J. Wiley [etc.]
مواضيع طبية MeSH: Endometrial Neoplasms*/genetics , Ethnicity* , Racial Groups*, Female ; Humans ; Germ Cells
مستخلص: Background: Racial disparities in outcomes exist in endometrial cancer (EC). The contribution of ancestry-based variations in germline pathogenic variants (gPVs) is unknown.
Methods: Germline assessment of ≥76 cancer predisposition genes was performed in patients with EC undergoing tumor-normal Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets sequencing from January 1, 2015 through June 30, 2021. Self-reported race/ethnicity and Ashkenazi Jewish ancestry data classified patients into groups. Genetic ancestry was inferred from Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets. Rates of gPV and genetic counseling were compared by ancestry.
Results: Among 1625 patients with EC, 216 (13%) had gPVs; 15 had >1 gPV. Rates of gPV varied by self-reported ancestry (Ashkenazi Jewish, 40/202 [20%]; Asian, 15/124 [12%]; Black/African American (AA), 12/171 [7.0%]; Hispanic, 15/124 [12%]; non-Hispanic (NH) White, 129/927 [14%]; missing, 5/77 [6.5%]; p = .009], with similar findings by genetic ancestry (p < .001). We observed a lower likelihood of gPVs in patients of Black/AA (odds ratio [OR], 0.44; 95% CI, 0.22-0.81) and African (AFR) ancestry (OR, 0.42; 95% CI, 0.18-0.85) and a higher likelihood in patients of Ashkenazi Jewish genetic ancestry (OR, 1.62; 95% CI; 1.11-2.34) compared with patients of non-Hispanic White/European ancestry, even after adjustment for age and molecular subtype. Somatic landscape influenced gPVs with lower rates of microsatellite instability-high tumors in patients of Black/AA and AFR ancestry. Among those with newly identified gPVs (n = 114), 102 (89%) were seen for genetic counseling, with lowest rates among Black/AA (75%) and AFR patients (67%).
Conclusions: In those with EC, gPV and genetic counseling varied by ancestry, with lowest rates among Black/AA and AFR patients, potentially contributing to disparities in outcomes given implications for treatment and cancer prevention.
Plain Language Summary: Black women with endometrial cancer do worse than White women, and there are many reasons for this disparity. Certain genetic changes from birth (mutations) can increase the risk of cancer, and it is unknown if rates of these changes are different between different ancestry groups. Genetic mutations in 1625 diverse women with endometrial cancer were studied and the lowest rates of mutations and genetic counseling were found in Black and African ancestry women. This could affect their treatment options as well as their families and may make disparities worse.
(© 2023 American Cancer Society.)
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معلومات مُعتمدة: P30 CA008748 United States CA NCI NIH HHS; P30 CA008748 United States NH NIH HHS; P30 CA008748 United States NH NIH HHS
فهرسة مساهمة: Keywords: ancestry; disparities; endometrial cancer; genetic testing; germline finding; race
تواريخ الأحداث: Date Created: 20231027 Date Completed: 20240209 Latest Revision: 20240311
رمز التحديث: 20240312
مُعرف محوري في PubMed: PMC10922155
DOI: 10.1002/cncr.35071
PMID: 37886874
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0142
DOI:10.1002/cncr.35071