Pathogenic germline variants in patients with endometrial cancer of diverse ancestry.
Ying L LiuSushmita GordhandasKanika S AroraEric V Rios-DoriaKaren A CadooAmanda CatchingsAnna MaioYelena KemelMargaret SheehanErin Salo-MullenQin ZhouAlexia IasonosJian Carrot-ZhangBeryl Manning-GeistTiffany Y SiaPier SelenicaChad VanderbiltMaksym MisyuraAlicia J LathamChaitanya BandlamudiMichael F BergerJada G HamiltonVicky MakkerNadeem R Abu-RustumLora H EllensonKenneth OffitDiana L MandelkerZsofia StadlerJorge S Reis-FilhoCarol AghajanianCarol BrownPublished in: Cancer (2023)
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.
Keyphrases
- endometrial cancer
- copy number
- genome wide
- polycystic ovary syndrome
- pregnancy outcomes
- genome wide association study
- papillary thyroid
- dna methylation
- type diabetes
- healthcare
- metabolic syndrome
- cervical cancer screening
- dna repair
- pregnant women
- squamous cell carcinoma
- oxidative stress
- breast cancer risk
- insulin resistance
- dna damage
- gestational age