Miscellaneous Guidelines
~ Genetics of Breast & Ovarian Cancer

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 Dec 8, 2019 @ 11:28 am.


    • 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.

    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.

    • 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.
    • 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]
    • Review, Guidelines
    • 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.
    • Review
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • [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.
    • [Article in Chinese]
    • November Webinar, The NCCN Guidelines: How They're Created and Updated.
    • Heather Hampel, Robert Pilarski
    • NSGC. Cancer SIG Webinar Recordings. 2016 Nov 18.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: November webinar slides and recording are available

    • 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.
    • 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.
    • 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.
    • 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.
    • 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.