C
Cécile Skrzynia
Researcher at University of North Carolina at Chapel Hill
Publications - 23
Citations - 1468
Cécile Skrzynia is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Genetic counseling & Genetic testing. The author has an hindex of 16, co-authored 23 publications receiving 1371 citations.
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Journal ArticleDOI
Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors
Bronson D. Riley,Julie O. Culver,Cécile Skrzynia,Leigha Senter,June A. Peters,Josephine Wagner Costalas,Faith Callif-Daley,Sherry C. Grumet,Katherine S. Hunt,Rebecca Nagy,Wendy McKinnon,Nancie Petrucelli,Robin L. Bennett,Angela Trepanier +13 more
TL;DR: These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing.
Journal ArticleDOI
Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors
Angela Trepanier,Mary Ahrens,Wendy McKinnon,June A. Peters,Jill Stopfer,Sherry C. Grumet,Susan Manley,Julie O. Culver,Ronald T. Acton,Joy Larsen-Haidle,Lori Ann Correia,Robin L. Bennett,Barbara Pettersen,Terri Diamond Ferlita,Josephine Wagner Costalas,Katherine Hunt,Susan Donlon,Cécile Skrzynia,Carolyn Farrell,Faith Callif-Daley,Catherine Walsh Vockley +20 more
TL;DR: These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing.
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The complexities of predictive genetic testing
TL;DR: Predictive genetic testing in an asymptomatic person to predict future risk of disease has considerable potential for accurate risk assessment and appropriate targeting of screening and preventive strategies.
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The new genetics and its consequences for family, kinship, medicine and medical genetics
TL;DR: The degree to which medical genetics places the patient in a double bind between the qualitative certainty and quantitative uncertainty of genetic inheritance that reinforce notions both of fear, and control of a person's future health is explored.
Journal ArticleDOI
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
Elizabeth M. Rohlfs,Nadine Puget,Mark L. Graham,Barbara L. Weber,Judy Garber,Cécile Skrzynia,Joseph L. Halperin,Gilbert M. Lenoir,Lawrence M. Silverman,Sylvie Mazoyer +9 more
TL;DR: It is suggested that the two American families who carry this deletion are of northern European ancestry and share a common haplotype, suggesting that this deletion may represent a founder mutation.