Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.

Autor: Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Huang H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Na J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Lumby C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Abozaid M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Holdren MA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Rao TJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Karam R; Ambry Genetics, Aliso Viejo, CA 92656, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA 92656, USA., Weyandt JD; Ambry Genetics, Aliso Viejo, CA 92656, USA., Csuy CM; Ambry Genetics, Aliso Viejo, CA 92656, USA., Seelaus CA; Ambry Genetics, Aliso Viejo, CA 92656, USA., Young CC; Ambry Genetics, Aliso Viejo, CA 92656, USA., Fulk K; Ambry Genetics, Aliso Viejo, CA 92656, USA., Heidari Z; Ambry Genetics, Aliso Viejo, CA 92656, USA., Morais Lyra PC Jr; Cancer Epidemiology Program, Moffit Cancer Center, Tampa, FL 33612, USA., Couch RE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Persons B; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA., Polley EC; Department of Public Health Sciences, University of Chicago, Chicago, IL 60637, USA., Gnanaolivu RD; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Boddicker NJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Monteiro ANA; Cancer Epidemiology Program, Moffit Cancer Center, Tampa, FL 33612, USA., Yadav S; Department of Medical Oncology, Mayo Clinic, Rochester, MN 55902, USA., Domchek SM; Division of Hematology Oncology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA., Richardson ME; Ambry Genetics, Aliso Viejo, CA 92656, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55902, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA. Electronic address: couch.fergus@mayo.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 584-593. Date of Electronic Publication: 2024 Feb 27.

RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families.

Autor: Fulk K; Ambry Genetics Corp, Aliso Viejo, California, USA kfulk@ambrygen.com., Turner M; Inova Primary Care, Falls Church, Virginia, USA., Eppolito A; Piedmont Healthcare Inc, Atlanta, Georgia, USA., Krukenberg R; Community Health Network Inc, Indianapolis, Indiana, USA.

Publikováno v: BMJ case reports [BMJ Case Rep] 2022 Apr 29; Vol. 15 (4). Date of Electronic Publication: 2022 Apr 29.

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.

Autor: LaDuca H; Ambry Genetics, Aliso Viejo, CA, USA. hladuca@ambrygen.com., Polley EC; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Yussuf A; Ambry Genetics, Aliso Viejo, CA, USA., Hoang L; Ambry Genetics, Aliso Viejo, CA, USA., Gutierrez S; Ambry Genetics, Aliso Viejo, CA, USA., Hart SN; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Yadav S; Department of Medical Oncology, Mayo Clinic, Rochester, MN, USA., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Na J; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Goldgar DE; Department of Dermatology, University of Utah, Salt Lake City, UT, USA., Fulk K; Ambry Genetics, Aliso Viejo, CA, USA., Smith LP; Ambry Genetics, Aliso Viejo, CA, USA., Horton C; Ambry Genetics, Aliso Viejo, CA, USA., Profato J; Ambry Genetics, Aliso Viejo, CA, USA., Pesaran T; Ambry Genetics, Aliso Viejo, CA, USA., Gau CL; Ambry Genetics, Aliso Viejo, CA, USA., Pronold M; Ambry Genetics, Aliso Viejo, CA, USA., Davis BT; Ambry Genetics, Aliso Viejo, CA, USA., Chao EC; Ambry Genetics, Aliso Viejo, CA, USA.; Department of Pediatrics, Division of Genetic and Genomic Medicine, University of California-Irvine, Irvine, CA, USA., Couch FJ; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Dolinsky JS; Ambry Genetics, Aliso Viejo, CA, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Feb; Vol. 22 (2), pp. 407-415. Date of Electronic Publication: 2019 Aug 13.

Women with breast and uterine cancer are at increased risk for hereditary cancer predisposition

Autor: Stany, M.P., Fulk, K., LaDuca, H., Yussuf, A.F.

Publikováno v: In Gynecologic Oncology June 2018 149 Supplement 1:226-226

Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.

Autor: Fulk K; Ambry Genetics, 92656, Aliso Viejo, CA, USA. kfulk@ambrygen.com., LaDuca H; Ambry Genetics, 92656, Aliso Viejo, CA, USA., Black MH; Ambry Genetics, 92656, Aliso Viejo, CA, USA., Qian D; Ambry Genetics, 92656, Aliso Viejo, CA, USA., Tian Y; Ambry Genetics, 92656, Aliso Viejo, CA, USA., Yussuf A; Ambry Genetics, 92656, Aliso Viejo, CA, USA., Espenschied C; Ambry Genetics, 92656, Aliso Viejo, CA, USA.; Guardant Health, 94063, Redwood City, CA, USA., Jasperson K; Ambry Genetics, 92656, Aliso Viejo, CA, USA.

Publikováno v: Familial cancer [Fam Cancer] 2019 Apr; Vol. 18 (2), pp. 197-201.