Risk to Noncarriers of Known Family Mutations
~ Genetics of Breast & Ovarian Cancer

References examining risk to those who test negative for a known mutation in their immediate family history

List was last updated on Sep 24, 2019 @ 7:43 pm.


    • Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
    • Buckingham L, Mitchell R, Maienschein-Cline M, Green S, Hu VH, Cobleigh M, Rotmensch J, Burgess K, Usha L.
    • Hered Cancer Clin Pract. 2019 Jul 16;17:21. doi: 10.1186/s13053-019-0117-5. eCollection 2019.
    • Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.
    • Girardi F, Barnes DR, Barrowdale D, Frost D, Brady AF, Miller C, Henderson A, Donaldson A, Murray A, Brewer C, Pottinger C, Evans DG, Eccles D; EMBRACE, Lalloo F, Gregory H, Cook J, Eason J, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Eeles R, Davidson R, Snape K, Easton DF, Antoniou AC.
    • Genet Med. 2018 Dec;20(12):1575-1582. doi: 10.1038/gim.2018.44. Epub 2018 Mar 22.
    • Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?
    • Mitchell R, Buckingham L, Cobleigh M, Rotmensch J, Burgess K, Usha L.
    • PLoS One. 2018 Apr 16;13(4):e0195497. doi: 10.1371/journal.pone.0195497. eCollection 2018.
    • Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
    • Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Hered Cancer Clin Pract. 2018 Jan 15;16:4. doi: 10.1186/s13053-018-0086-0. eCollection 2018.
    • No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation-positive families.
    • Guedaoura S, Pelletier S, Foulkes WD, Hamet P, Simard J, Wong N, El Haffaf Z, Chiquette J, Dorval M.
    • Curr Oncol. 2017 Dec;24(6):352-359. doi: 10.3747/co.24.3759. Epub 2017 Dec 20.
    • Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.
    • Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.
    • Oncol Rep. 2017 Mar;37(3):1379-1386. doi: 10.3892/or.2017.5407. Epub 2017 Jan 25.
    • Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
    • Azzollini J, Pesenti C, Ferrari L, Fontana L, Calvello M, Peissel B, Portera G, Tabano S, Carcangiu ML, Riva P, Miozzo M, Manoukian S.
    • PLoS One. 2017 Feb 15;12(2):e0171663. doi: 10.1371/journal.pone.0171663. eCollection 2017.
    • No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families.
    • Nielsen HR, Petersen J, Krogh L, Nilbert M, Skytte AB.
    • Fam Cancer. 2016 Oct;15(4):523-8. doi: 10.1007/s10689-016-9898-0.
    • Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation.
    • Pelletier S, Wong N, El Haffaf Z, Foulkes WD, Chiquette J, Hamet P, Simard J, Dorval M.
    • Genet Med. 2016 Jun;18(6):627-34. doi: 10.1038/gim.2015.135. Epub 2015 Nov 5.
    • Increase in breast cancer gene screening: the Angelina Jolie effect.
    • Deborah Kotz.
    • Boston Globe. 2013 Dec 3.
    • Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Prospective Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers.
    • Evans DG, Ingham SL, Buchan I, Woodward ER, Byers H, Howell A, Maher ER, Newman WG, Lalloo F.
    • Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2269-76. doi: 10.1158/1055-9965.EPI-13-0316-T. Epub 2013 Nov 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and "true negative"

    Subject: "True negative" not really "true negative"

    Subject: Article Request

    • Proven non-carriers in BRCA families have an earlier age of onset of breast cancer.
    • Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, Oosterwijk JC.
    • Eur J Cancer. 2013 Jun;49(9):2101-6. doi: 10.1016/j.ejca.2013.02.018. Epub 2013 Mar 13.
    • BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
    • Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer.
    • Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.
    • Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: more trouble with phenocopies.
    • Evans DG, Howell A.
    • J Clin Oncol. 2012 Apr 1;30(10):1142-3; author reply 1143-4. doi: 10.1200/JCO.2011.40.8021. Epub 2012 Feb 27.

    Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.

    Letter, Reply: Reply to D.G. Evans et al. (J Clin Oncol)

    • Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers?
    • Bernholtz S, Laitman Y, Kaufman B, Shimon-Paluch S, Friedman E.
    • Breast Cancer Res Treat. 2012 Apr;132(2):669-73. doi: 10.1007/s10549-011-1886-3. Epub 2011 Nov 24.