Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants | Zendy

Kandamurugu Manickam | Zendy; Adam H. Buchanan | Zendy; M. Schwartz | Zendy; Miranda L. G. Hallquist | Zendy; Janet L. Williams | Zendy; Alanna Kulchak Rahm | Zendy; Heather Rocha | Zendy; Juliann M. Savatt | Zendy; Alyson Evans | Zendy; Loren Butry | Zendy; Amanda L. Lazzeri | Zendy; D’Andra M. Lindbuchler | Zendy; Carroll N. Flansburg | Zendy; Rosemary Leeming | Zendy; Victor G. Vogel | Zendy; Matthew S. Lebo | Zendy; Heather MasonSuares | Zendy; Derick Hoskinson | Zendy; Noura S. AbulHusn | Zendy; Frederick E. Dewey | Zendy; John D. Overton | Zendy; Jeffrey G. Reid | Zendy; Aris Baras | Zendy; Huntington F. Willard | Zendy; Cara Z. McCormick | Zendy; S. Krishnamurthy | Zendy; Dustin N. Hartzel | Zendy; Korey A. Kost | Zendy; Daniel R. Lavage | Zendy; Amy C. Sturm | Zendy; Lauren R. Frisbie | Zendy; Thomas N. Person | Zendy; Raghu Metpally | Zendy; Monica A. Giovanni | Zendy; Lacy E. Lowry | Zendy; Joseph B. Leader | Zendy; Marylyn D. Ritchie | Zendy; David J. Carey | Zendy; Anne E. Justice | Zendy; H. Lester Kirchner | Zendy; W. Andrew Faucett | Zendy; Marc S. Williams | Zendy; David H. Ledbetter | Zendy; Michael F. Murray | Zendy

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Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Author(s) -

Kandamurugu Manickam,

Adam H. Buchanan,

M. Schwartz,

Miranda L. G. Hallquist,

Janet L. Williams,

Alanna Kulchak Rahm,

Heather Rocha,

Juliann M. Savatt,

Alyson Evans,

Loren Butry,

Amanda L. Lazzeri,

D’Andra M. Lindbuchler,

Carroll N. Flansburg,

Rosemary Leeming,

Victor G. Vogel,

Matthew S. Lebo,

Heather MasonSuares,

Derick Hoskinson,

Noura S. AbulHusn,

Frederick E. Dewey,

John D. Overton,

Jeffrey G. Reid,

Aris Baras,

Huntington F. Willard,

Cara Z. McCormick,

S. Krishnamurthy,

Dustin N. Hartzel,

Korey A. Kost,

Daniel R. Lavage,

Amy C. Sturm,

Lauren R. Frisbie,

Thomas N. Person,

Raghu Metpally,

Monica A. Giovanni,

Lacy E. Lowry,

Joseph B. Leader,

Marylyn D. Ritchie,

David J. Carey,

Anne E. Justice,

H. Lester Kirchner,

W. Andrew Faucett,

Marc S. Williams,

David H. Ledbetter,

Michael F. Murray

Publication year - 2018

Publication title -

jama network open

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.278

H-Index - 39

ISSN - 2574-3805

DOI - 10.1001/jamanetworkopen.2018.2140

Subject(s) - medicine , biobank , cohort , exome sequencing , medical record , cohort study , electronic health record , exome , health care , oncology , bioinformatics , genetics , gene , mutation , biology , economics , economic growth

Key Points Question Can population-level genomic screening identify those at risk for disease? Findings In this cross-sectional study of an unselected population cohort of 50 726 adults who underwent exome sequencing, pathogenic and likely pathogenic BRCA1 and BRCA2 variants were found in a higher proportion of patients than was previously reported. Meaning Current methods to identify BRCA1/2 variant carriers may not be sufficient as a screening tool; population genomic screening for hereditary breast and ovarian cancer may better identify patients at high risk and provide an intervention opportunity to reduce mortality and morbidity.

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