Any guidelines that do not fit into the other guideline categories, or that have a unique additional element(s).
Not just clinical guidelines themselves, but any papers dealing with any aspect of guidelines, such as assessments of their effectiveness, assessments of providers' adherence to guidelines, press reports announcing new guideline's release, and so forth.
List was last updated on
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- Challenges in periodic revision of genetic testing results: comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 Variants of Uncertain Significance.
- Finger Andreis T, Isabel Weber de Souza K, Araujo Vieira I, Alemar B, Sinigaglia M, Marinho de Araújo Rocha Y, Artigalás O, Bittar C, Brinckmann Oliveira Netto C, Ashton-Prolla P, Rosset C.
- Gene. 2023 Feb 10:147281. doi: 10.1016/j.gene.2023.147281. Epub ahead of print.
- PMID: 36775216
- PubMed abstract
- Source abstract
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- Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
- Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
- Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
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- Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
- Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Machácková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, Consortium E, Vreeswijk MPG, de la Hoya M, Spurdle AB.
- Hum Mutat. 2022 Aug 18. doi: 10.1002/humu.24449. Epub ahead of print.
- PMID: 35979650
- PubMed abstract
- Source abstract
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- Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices.
- Lahiri S, Reys B, Wunder J, Pirzadeh-Miller S.
- J Genet Couns. 2022 Aug 17. doi: 10.1002/jgc4.1626. Epub ahead of print.
- PMID: 35978490
- PubMed abstract
- Source abstract
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- Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
- Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL.
- J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
- PMID: 35393334
- PubMed abstract
- Review
- Free Full Text
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- Educational Programme for Cancer Nurses in Genetics, Health Behaviors and Cancer Prevention: A Multidisciplinary Consensus Study.
- Diez de Los Rios de la Serna C, Fernández-Ortega P, Lluch-Canut T.
- J Pers Med. 2022 Jul 5;12(7):1104. doi: 10.3390/jpm12071104.
- PMID: 35887601
- PubMed abstract
- Source abstract
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- Preimplantation genetic testing in patients with genetic susceptibility to cancer.
- Villy MC, Frydman N, Moutou C, Thierry G, Raad J, Colas C, Steffann J, Metras J, Chabbert-Buffet N, Parc Y, Richard S, Benusiglio PR.
- Fam Cancer. 2022 Apr 12. doi: 10.1007/s10689-022-00293-1. Epub ahead of print.
- PMID: 35415820
- PubMed abstract
- Source abstract
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- Creating Breast and Gynecologic Cancer Guidelines for Transgender Patients With BRCA Mutations.
- Bedrick BS, Fruhauf TF, Martin SJ, Ferriss JS.
- Obstet Gynecol. 2021 Dec 1;138(6):911-917. doi: 10.1097/AOG.0000000000004597.
- PMID: 34735408
- PubMed abstract
- Source abstract
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- Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations.
- Curtin C.
- Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 Nov 19.
Original research:
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
- PMID: 34793697
- PubMed abstract
- Free Full Text
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- Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors.
- Hunt Brendish K, Patel D, Yu K, Alexander CK, Lemons J, Gunter A, Carmany EP.
- J Genet Couns. 2021 Oct;30(5):1336-1353. doi: 10.1002/jgc4.1491. Epub 2021 Aug 14.
- PMID: 34390070
- PubMed abstract
- Source abstract
- Guideline
- Free Full Text
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- Heart Rate Variability-Guided Exercise During Chemotherapy in Triathlete with Stage 1 BRCA1-Mutated Breast Cancer.
- Talbot A, McCabe M, Daly B, Gallagher D.
- Ir Med J. 2021 Aug 19;114(7):420.
- PMID: 35476380
- PubMed abstract
- Case report
- Free Full Text
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- Prenatal diagnosis and pre-implantation genetic diagnosis for cancer susceptibility conditions.
- Kulkarni A, Kilby MD.
- BJOG. 2021 Jul 22. doi: 10.1111/1471-0528.16785. Epub ahead of print.
- PMID: 34296517
- PubMed abstract
- Commentary
- Free Full Text
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- Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
- Green RF, Kumerow MT, Rodriguez JL, Addie S, Beachy SH, Senier L.
- Public Health Genomics. 2020 Sep 17:1-12. doi: 10.1159/000510336. Epub ahead of print.
- PMID: 32942283
- PubMed abstract
- Source abstract
Original research:
Proposed outcomes measures for state public health genomic programs.
- PMID: 29300382
- PubMed abstract
- Free Full Text
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- BREAST CANCER SCREENING OF MUTATION CARRIERS IN THE ERA OF COVID-19 PANDEMIC.
- Toss A, Lambertini M, Punie K, Grandi G, Cortesi L.
- Int J Cancer. 2020 Jun 17. doi: 10.1002/ijc.33160. Epub ahead of print.
- PMID: 32557656
- PubMed abstract
- Source abstract
- Letter
- Free Full Text (PDF)
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- The Provision of Genetic Testing and Related Services in Quebec, Canada.
- Unim B, De Vito C, Hagan J, Villari P, Knoppers BM, Zawati M.
- Front Genet. 2020 Mar 4;11:127. doi: 10.3389/fgene.2020.00127. eCollection 2020.
- PMID: 32194621
- PubMed abstract
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- Study: Women who exercise have lower breast cancer risk whether or not they have a family history of breast cancer.
- [No author given.]
- FORCE. XRAYS. 2019 Dec 6.
- Research news
- Free Full Text
Original research:
Recreational physical activity is associated with reduced breast cancer risk in adult women at high risk for breast cancer: a cohort study of women selected for familial and genetic risk.
- PMID: 31578201
- PubMed abstract
- Source abstract
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- 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 Jul;26(4):510-519. doi: 10.1007/s12282-019-00951-w. Epub 2019 Feb 6.
- PMID: 30725392
- PubMed abstract
- Source abstract
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- Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
- Spurdle AB, Greville-Heygate S, Antoniou AC, Brown M, Burke L, de la Hoya M, Domchek S, Dörk T, Firth HV, Monteiro AN, Mensenkamp A, Parsons MT, Radice P, Robson M, Tischkowitz M, Tudini E, Turnbull C, Vreeswijk MP, Walker LC, Tavtigian S, Eccles DM.
- J Med Genet. 2019 Apr 8. pii: jmedgenet-2018-105872. doi: 10.1136/jmedgenet-2018-105872. [Epub ahead of print]
- PMID: 30962250
- PubMed abstract
- Source abstract
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- Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.
- Green RF, Ari M, Kolor K, Dotson WD, Bowen S, Habarta N, Rodriguez JL, Richardson LC, Khoury MJ.
- Genet Med. 2019 Jan;21(1):28-37. doi: 10.1038/s41436-018-0028-2. Epub 2018 Jun 15.
- PMID: 29907802
- PubMed abstract
- Source abstract
- Review
- Free PMC article
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- Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
- Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW.
- J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10.
- PMID: 30415210
- PubMed abstract
- Source abstract
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- Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
- Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
- Cancers (Basel). 2018 Nov 16;10(11). pii: E453. doi: 10.3390/cancers10110453.
- PMID: 30453575
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- Proposed outcomes measures for state public health genomic programs.
- Doyle DL, Clyne M, Rodriguez JL, Cragun DL, Senier L, Hurst G, Chan K, Chambers DA.
- Genet Med. 2018 Sep;20(9):995-1003. doi: 10.1038/gim.2017.229. Epub 2018 Jan 4.
- PMID: 29300382
- PubMed abstract
Original research:
Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
- PMID: 32942283
- PubMed abstract
- Source abstract
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- 4th International Consensus Conference on Advanced Breast Cancer (ABC4), Lisbon, November 4, 2017 : ABC4 Consensus: Assessment by a Panel of German Experts.
- Untch M, Würstlein R, Marschner N, Lüftner D, Augustin D, Briest S, Ettl J, Haidinger R, Müller L, Müller V, Ruckhäberle E, Harbeck N, Thomssen C.
- Geburtshilfe Frauenheilkd. 2018 May;78(5):469-480. doi: 10.1055/a-0594-2243. Epub 2018 Jun 4.
- PMID: 29880982
- PubMed abstract
- Source abstract
- Conference report
- Free PMC article
- Free Full Text
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- Impact of a genetic counseling requirement prior to genetic testing.
- Stenehjem DD, Au T, Sainski AM, Bauer H, Brown K, Lancaster J, Stevens V, Brixner DI.
- BMC Health Serv Res. 2018 Mar 7;18(1):165. doi: 10.1186/s12913-018-2957-5.
- PMID: 29514700
- PubMed abstract
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- A Danish national effort of BRCA1/2 variant classification.
- Pedersen IS, Schmidt AY, Bertelsen B, Ernst A, Andersen CLT, Kruse T, Rossing M, Thomassen M.
- Acta Oncol. 2018 Jan;57(1):159-162. doi: 10.1080/0284186X.2017.1400693. Epub 2017 Nov 23.
- PMID: 29168416
- PubMed abstract
- Source abstract
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- Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
- Mundt E, Nix P, Brown K, Bowles KR, Manley S.
- J Clin Oncol. 2017 Dec 1;35(34):3796-3799. doi: 10.1200/JCO.2017.74.5182. Epub 2017 Oct 5.
- PMID: 28981386
- PubMed abstract
- Source abstract
- Comment
- Free Full Text
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- [China expert consensus on BRCA variant interpretation].
- Panel members of China expert consensus on BRCA variant interpretation.
- Zhonghua Bing Li Xue Za Zhi. 2017 May 8;46(5):293-297. doi: 10.3760/cma.j.issn.0529-5807.2017.05.002.
- PMID: 28468032
- PubMed abstract
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- November Webinar, The NCCN Guidelines: How They're Created and Updated.
- Heather Hampel, Robert Pilarski
- NSGC. Cancer SIG Webinar Recordings. 2016 Nov 18.
- Webinar
- Slides
- Audio recording
Comments from NSGC Discussion Forum Cancer SIG
Subject: November webinar slides and recording are available
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- American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient-Centered Outcomes in a Real World Setting.
- Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Teten RT, Kondoff MR, Molina AD, Abdollahian M, Brand L, Walker GS, Sutphen R.
- J Genet Couns. 2015 Feb;24(1):18-28. doi: 10.1007/s10897-014-9750-3. Epub 2014 Sep 12.
- PMID: 25209347
- PubMed abstract
- Source abstract
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- Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.
- Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E.
- Ann Oncol. 2013 Nov;24 Suppl 8:viii69-viii74. doi: 10.1093/annonc/mdt312.
- PMID: 24131974
- PubMed abstract
- Source abstract
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- Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider.
- Black L, McClellan KA, Avard D, Knoppers BM.
- J Community Genet. 2013 Apr;4(2):203-14. doi: 10.1007/s12687-012-0132-y. Epub 2012 Dec 29.
- PMID: 23275181
- PubMed abstract
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- Methodological quality of English-language genetic guidelines on hereditary breast-cancer screening and management: an evaluation using the AGREE instrument.
- Simone B, De Feo E, Nicolotti N, Ricciardi W, Boccia S.
- BMC Med. 2012 Nov 21;10:143. doi: 10.1186/1741-7015-10-143.
- PMID: 23171648
- PubMed abstract
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- Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
- Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, Sevenet N, Bressac-de Paillerets B, Hardouin A, Tosi M, Sinilnikova OM, Stoppa-Lyonnet D.
- Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.
- PMID: 22505045
- PubMed abstract
- Source abstract