C
Catherine Walsh Vockley
Researcher at Mayo Clinic
Publications - 9
Citations - 2149
Catherine Walsh Vockley is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Cancer & Microsatellite instability. The author has an hindex of 7, co-authored 7 publications receiving 2063 citations. Previous affiliations of Catherine Walsh Vockley include University of Rochester.
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Journal ArticleDOI
Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers
Lynn C. Hartmann,Thomas A. Sellers,Daniel J. Schaid,Thomas S. Frank,Cheryl L. Soderberg,Diana L. Sitta,Marlene H. Frost,Clive S. Grant,John H. Donohue,John E. Woods,Shannon K. McDonnell,Catherine Walsh Vockley,Amie M. Deffenbaugh,Fergus J. Couch,Robert B. Jenkins +14 more
TL;DR: Prophylactic mastectomy is associated with a substantial reduction in the incidence of subsequent breast cancer not only in women identified as being at high risk on the basis of a family history of breast cancer but also in known BRCA1 or BRCa2 mutation carriers.
Journal Article
Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1.
Stephen N. Thibodeau,Amy J. French,Julie M. Cunningham,David J. Tester,Lawrence J. Burgart,Patrick C. Roche,Shannon K. McDonnell,Daniel J. Schaid,Catherine Walsh Vockley,Virginia V. Michels,Gist H. Farr,Michael J. O'Connell +11 more
TL;DR: In this paper, DNA extracted from paraffin-embedded tissue from 508 patients using 11 microsatellites localized to chromosomes 5, 8, 15, 17, and 18 was used to characterize the type of alterations at these loci and their frequency of involvement in colon cancer.
Journal ArticleDOI
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.
Julie M. Cunningham,Cheong Yong Kim,Eric R. Christensen,David J. Tester,Yann Parc,Lawrence J. Burgart,Kevin C. Halling,Shannon K. McDonnell,Daniel J. Schaid,Catherine Walsh Vockley,Vickie Kubly,Heidi Nelson,Virginia V. Michels,Stephen N. Thibodeau +13 more
TL;DR: The results suggest that, although defective DNA MMR occurs in approximately 20% of unselected patients presenting for CRC resection, hereditary CRC due to mutations in the MMR pathway account for only a small proportion of patients.
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.
Journal ArticleDOI
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
Jennifer J. Johnston,Isabelle M. Olivos-Glander,Christina Killoran,Emma Elson,Joyce T. Turner,Kathryn F. Peters,Margaret H. Abbott,David J. Aughton,Arthur S. Aylsworth,Michael J. Bamshad,Carol Booth,Cynthia J. Curry,Albert David,Mary Beth Dinulos,David B. Flannery,Michelle Fox,John M. Graham,John M. Graham,Dorothy K. Grange,Alan E. Guttmacher,Mark C. Hannibal,Wolfram Henn,Raoul C.M. Hennekam,Lewis B. Holmes,H. Eugene Hoyme,Kathleen A. Leppig,Angela E. Lin,Patrick MacLeod,David K. Manchester,Carlo Marcelis,Laura Mazzanti,Emma McCann,Marie T. McDonald,Nancy J. Mendelsohn,John B. Moeschler,Billur Moghaddam,Giovanni Neri,Ruth Newbury-Ecob,Roberta A Pagon,John A. Phillips,Laurie S. Sadler,Joan M. Stoler,David Tilstra,Catherine Walsh Vockley,Elaine H. Zackai,Touran M. Zadeh,Louise Brueton,Graeme C.M. Black,Leslie G. Biesecker +48 more
TL;DR: A robust correlation of genotype and phenotype for GLI3 mutations is demonstrated and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.