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Items: 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.

LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.

Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]


Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

Li S, Qian D, Thompson BA, Gutierrez S, Wu S, Pesaran T, LaDuca H, Lu HM, Chao EC, Black MH.

J Med Genet. 2019 Aug 7. pii: jmedgenet-2019-106096. doi: 10.1136/jmedgenet-2019-106096. [Epub ahead of print]


Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.

Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X.

J Med Genet. 2019 Jul 11. pii: jmedgenet-2019-105991. doi: 10.1136/jmedgenet-2019-105991. [Epub ahead of print]


Genotype-phenotype associations among panel-based TP53+ subjects.

Rana HQ, Clifford J, Hoang L, LaDuca H, Black MH, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE.

Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0541-y. [Epub ahead of print]


Prevalence of germline variants in inflammatory breast cancer.

Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA.

Cancer. 2019 Apr 1. doi: 10.1002/cncr.32062. [Epub ahead of print]


Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.

Salvador MU, Truelson MRF, Mason C, Souders B, LaDuca H, Dougall B, Black MH, Fulk K, Profato J, Gutierrez S, Jasperson K, Tippin-Davis B, Lu HM, Gray P, Shah S, Chao EC, Ghahramani N, Landsverk M, Gau CL, Chen D, Pronold M.

J Clin Oncol. 2019 Mar 10;37(8):647-657. doi: 10.1200/JCO.18.00696. Epub 2019 Jan 31.


Quality of Clinician-Reported Cancer History When Ordering Genetic Testing.

LaDuca H, McFarland R, Gutierrez S, Yussuf A, Ho N, Pepper J, Reineke P, Cain T, Blanco K, Horton C, Dolinsky JS.

JCO Clin Cancer Inform. 2018 Dec;2:1-11. doi: 10.1200/CCI.18.00014.


Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.

Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.

Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.


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

Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, Espenschied C, Jasperson K.

Fam Cancer. 2019 Apr;18(2):197-201. doi: 10.1007/s10689-018-00114-4.


Prevalence of Germline Mutations in Polyposis and Colorectal Cancer-Associated Genes in Patients With Multiple Colorectal Polyps.

Stanich PP, Pearlman R, Hinton A, Gutierrez S, LaDuca H, Hampel H, Jasperson K.

Clin Gastroenterol Hepatol. 2019 Sep;17(10):2008-2015.e3. doi: 10.1016/j.cgh.2018.12.008. Epub 2018 Dec 14.


Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.

J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.


Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.

Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.

J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.


Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.

Brand R, Borazanci E, Speare V, Dudley B, Karloski E, Peters MLB, Stobie L, Bahary N, Zeh H, Zureikat A, Hogg M, Lee K, Tsung A, Rhee J, Ohr J, Sun W, Lee J, Moser AJ, DeLeonardis K, Krejdovsky J, Dalton E, LaDuca H, Dolinsky J, Colvin A, Lim C, Black MH, Tung N.

Cancer. 2018 Sep 1;124(17):3520-3527. doi: 10.1002/cncr.31628. Epub 2018 Aug 1.


Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical.

Tandy-Connor S, Krempely K, Pesaran T, LaDuca H, Guiltinan J, Davis BT.

Genet Med. 2019 Mar;21(3):760-761. doi: 10.1038/s41436-018-0095-4. Epub 2018 Jun 27. No abstract available.


Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

Powis Z, Espenschied CR, LaDuca H, Hagman KD, Paudyal T, Li S, Inaba H, Mauer A, Nathanson KL, Knost J, Chao EC, Tang S.

Cancer Genet. 2018 Aug;224-225:12-20. doi: 10.1016/j.cancergen.2018.04.002. Epub 2018 Apr 6.


False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, Gray P, Tippin Davis B.

Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.


Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.

J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.


Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.

Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.

JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.


Somatic TP53 variants frequently confound germ-line testing results.

Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K.

Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30.


Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.

Lilyquist J, LaDuca H, Polley E, Davis BT, Shimelis H, Hu C, Hart SN, Dolinsky JS, Couch FJ, Goldgar DE.

Gynecol Oncol. 2017 Nov;147(2):375-380. doi: 10.1016/j.ygyno.2017.08.030. Epub 2017 Sep 7.


Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.

Nguyen KA, Syed JS, Espenschied CR, LaDuca H, Bhagat AM, Suarez-Sarmiento A, O'Rourke TK Jr, Brierley KL, Hofstatter EW, Shuch B.

Cancer. 2017 Nov 15;123(22):4363-4371. doi: 10.1002/cncr.30893. Epub 2017 Aug 8.


Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.

Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.

J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.


Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

Couch FJ, Shimelis H, Hu C, Hart SN, Polley EC, Na J, Hallberg E, Moore R, Thomas A, Lilyquist J, Feng B, McFarland R, Pesaran T, Huether R, LaDuca H, Chao EC, Goldgar DE, Dolinsky JS.

JAMA Oncol. 2017 Sep 1;3(9):1190-1196. doi: 10.1001/jamaoncol.2017.0424.


Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC.

PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017.


Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.

Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.


Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.

Pesaran T, Karam R, Huether R, Li S, Farber-Katz S, Chamberlin A, Chong H, LaDuca H, Elliott A.

Int J Breast Cancer. 2016;2016:2469523. Epub 2016 Oct 16. Review.


Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

Leedom TP, LaDuca H, McFarland R, Li S, Dolinsky JS, Chao EC.

Cancer Genet. 2016 Sep;209(9):403-407. doi: 10.1016/j.cancergen.2016.08.005. Epub 2016 Aug 15.


Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E.

Genet Med. 2014 Nov;16(11):830-7. doi: 10.1038/gim.2014.40. Epub 2014 Apr 24.


Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).

Burton BK, Bausell H, Katz R, Laduca H, Sullivan C.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):110-4. doi: 10.1016/j.ymgme.2010.06.015. Epub 2010 Jun 27.


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