Lumbee Native American ancestry and the incidence of aggressive histologic subtypes of endometrial cancer

Zhang, Chelsea; Roque, Dario R.; Ehrisman, Jessie; DiSanto, Nicola; Broadwater, Gloria; Doll, Kemi M.; Gehrig, Paola A.; Secord, Angeles Alvarez; Havrilesky, Laura J.

doi:10.1016/j.gore.2015.06.004

Cited by 3 publications

(3 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The majority of the families included in this study were of known African, Afro‐Caribbean, or Middle Eastern descent. The descent of the Lumbee Native American tribe is controversial, but has been speculated to include an admixture of Native Americans, European settlers, and African Americans (Zhang et al., ). The observation of the NAM variant in various populations often of African descent could point toward a common ancestor of possible African origin.…”

Section: Discussionmentioning

confidence: 99%

STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

et al. 2018

View full text Add to dashboard Cite

SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a patient compound heterozygous for the p.(Trp284Ser) and a novel splice site change (c.997-1G > T). Clinical severity ranged from prenatal onset with severe features at birth, to a milder and slowly progressive congenital myopathy phenotype. A malignant hyperthermia (MH)-like reaction had occurred in several patients. The functional analysis demonstrated impaired ECC. In particular, KCl-induced membrane depolarization resulted in significantly reduced sarcoplasmic reticulum Ca release. Co-immunoprecipitation of STAC3 with Ca 1.1 in patients and control muscle samples showed that the protein interaction between STAC3 and Ca 1.1 was not significantly affected by the STAC3 variants. This study demonstrates that STAC3 gene analysis should be included in the diagnostic work up of patients of any ethnicity presenting with congenital myopathy, in particular if a history of MH-like episodes is reported. While the precise pathomechanism remains to be elucidated, our functional characterization of STAC3 variants revealed that defective ECC is not a result of Ca 1.1 sarcolemma mislocalization or impaired STAC3-Ca 1.1 interaction.

show abstract

Section: Discussionmentioning

confidence: 99%

STAC3variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

et al. 2018

View full text Add to dashboard Cite

show abstract

“…We find two clear trends. At least four of the names — “Chavis”, “Locklear”, “Oxendine”, and “Brayboy” — are traditional Native American surnames associated with the Lumbee tribe in North Carolina 18 . Individuals with these surnames are frequently categorized by the Census in the Other category, while they are overwhelmingly categorized as either White or Black on the voter file.…”

Section: Technical Validationmentioning

confidence: 99%

Race and ethnicity data for first, middle, and surnames

2023

View full text Add to dashboard Cite

We provide the largest compiled publicly available dictionaries of first, middle, and surnames for the purpose of imputing race and ethnicity using, for example, Bayesian Improved Surname Geocoding (BISG). The dictionaries are based on the voter files of six U.S. Southern States that collect self-reported racial data upon voter registration. Our data cover the racial make-up of a larger set of names than any comparable dataset, containing 136 thousand first names, 125 thousand middle names, and 338 thousand surnames. Individuals are categorized into five mutually exclusive racial and ethnic groups — White, Black, Hispanic, Asian, and Other — and racial/ethnic probabilities by name are provided for every name in each dictionary. We provide both probabilities of the form ℙ(race|name) and ℙ(name|race), and conditions under which they can be assumed to be representative of a given target population. These conditional probabilities can then be deployed for imputation in a data analytic task for which self-reported racial and ethnic data is not available.

show abstract

“…25 A small, retrospective cohort study of high-risk endometrial cancer subtypes in women of Lumbee Native American ancestry found no association between such ancestry and worse overall or disease-specific survival. 26…”

Section: Asian/pacific Islander Womenmentioning

confidence: 99%