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Items: 1 to 20 of 102

1.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR.

Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5.

2.

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL.

Am J Hum Genet. 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024.

3.

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS, Nam EJ, Park HS, Han JW, Lee JY, Kim J, Kim TI, Lee ST.

Cancer Res Treat. 2017 Oct;49(4):1012-1021. doi: 10.4143/crt.2016.433. Epub 2017 Jan 17.

4.

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Roston TM, Haji-Ghassemi O, LaPage MJ, Batra AS, Bar-Cohen Y, Anderson C, Lau YR, Maginot K, Gebauer RA, Etheridge SP, Potts JE, Van Petegem F, Sanatani S.

PLoS One. 2018 Nov 7;13(11):e0205925. doi: 10.1371/journal.pone.0205925. eCollection 2018.

5.

Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.

Paludan-Müller C, Ahlberg G, Ghouse J, Herfelt C, Svendsen JH, Haunsø S, Kanters JK, Olesen MS.

Clin Genet. 2017 Jan;91(1):63-72. doi: 10.1111/cge.12847. Epub 2016 Sep 26.

PMID:
27538377
6.

Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.

van Marcke C, Collard A, Vikkula M, Duhoux FP.

Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.

PMID:
30447919
7.
8.

Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.

Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.

BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.

9.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.

Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Erratum in: Am J Hum Genet. 2016 Jul 7;99(1):247.

10.

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).

Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.

11.

Secondary findings in 421 whole exome-sequenced Chinese children.

Chen W, Li W, Ma Y, Zhang Y, Han B, Liu X, Zhao K, Zhang M, Mi J, Fu Y, Zhou Z.

Hum Genomics. 2018 Sep 14;12(1):42. doi: 10.1186/s40246-018-0174-2.

12.

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.

PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr.

13.

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.

Song W, Gardner SA, Hovhannisyan H, Natalizio A, Weymouth KS, Chen W, Thibodeau I, Bogdanova E, Letovsky S, Willis A, Nagan N.

Genet Med. 2016 Aug;18(8):850-4. doi: 10.1038/gim.2015.180. Epub 2015 Dec 17.

PMID:
26681313
14.

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015.

15.

Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.

Romanet P, Odou MF, North MO, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A, Béroud C, Lévy N, Giraud S, Barlier A.

Hum Mutat. 2019 Mar 14. doi: 10.1002/humu.23746. [Epub ahead of print]

PMID:
30869828
16.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.

Bailey JN, Patterson C, de Nijs L, Durón RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martínez-Juárez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV.

Genet Med. 2017 Feb;19(2):144-156. doi: 10.1038/gim.2016.86. Epub 2016 Jul 28.

17.

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS, Caetano LA, Costa-Riquetto AD, Quedas EPS, Nery M, Collett-Solberg P, Boguszewski MCS, Vendramini MF, Crisostomo LG, Floh FO, Zarabia ZI, Kohara SK, Guastapaglia L, Passone CGB, Sewaybricker LE, Jorge AAL, Teles MG.

Clin Genet. 2017 Oct;92(4):388-396. doi: 10.1111/cge.12988. Epub 2017 Apr 12.

PMID:
28170077
18.

Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.

So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC, Huh J.

Breast Cancer. 2019 Feb 6. doi: 10.1007/s12282-019-00951-w. [Epub ahead of print]

PMID:
30725392
19.

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM.

Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.

20.

Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

Jang MA, Lee SH, Kim N, Ki CS.

Genet Med. 2015 Dec;17(12):1007-11. doi: 10.1038/gim.2015.26. Epub 2015 Apr 9.

PMID:
25856671

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