Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations.

doi:10.1200/PO.24.00106

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Article

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations.

JCO precision oncology - 1 Jul 2024

Samadder N Jewel, Gay Emily, Lindpere Vanda, Bublitz Michelle L, Bandel Lorelei A, Armasu Sebastian M, Vierkant Robert A, Ferber Matthew J, Klee Eric W, Larson Nicholas B, Kruisselbrink Teresa M, Egan Jan B, Kemppainen Jennifer L, Bidwell Jessa S, Anderson Jennifer L, McAllister Tammy M, Walker T'Nita S, Kunze Katie L, Golafshar Michael A, Klint Margaret A, Presutti Richard J, Bobo William V, Sekulic Aleksander, Summer-Bolster Jolene M, Willman Cheryl L, Lazaridis Konstantinos N

Abstract excerpt

PURPOSE: The autosomal dominant cancer predisposition disorders hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are genetic conditions for which early identification and intervention have a positive effect on the individual and public health. The goals of this study were to determine whether germline genetic screening using exome sequencing could be used to efficiently identify carriers of...

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Identifiers

PMID: 39013133
DOI: 10.1200/PO.24.00106

Genes

BRCA1
EPCAM
MLH1
MSH2
MSH6
PMS2
BRCA2

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