• Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
    • Controversies and Open Questions in Management of Cancer-Free Carriers of Germline Pathogenic Variants in BRCA1/BRCA2.
    • Bernstein-Molho R, Friedman E, Evron E.
    • Cancers (Basel). 2022 Sep 22;14(19):4592. doi: 10.3390/cancers14194592.
    • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
    • Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
    • J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.
    • Points to Consider Regarding Risk-Reducing Mastectomy in High-, Moderate-, and Low-Penetrance Gene Carriers.
    • Corso G, Robson ME, Sacchini V.
    • Ann Surg Oncol. 2022 Sep;29(9):5821-5825. doi: 10.1245/s10434-022-11913-6. Epub 2022 May 23.
    • Review, Commentary
    • Breast cancer screening in average and high-risk women.
    • Rahman WT, Helvie MA.
    • Best Pract Res Clin Obstet Gynaecol. 2022 Sep;83:3-14. doi: 10.1016/j.bpobgyn.2021.11.007. Epub 2021 Nov 19.
    • Review
    • Breast cancer risk reduction: who, why, and what?
    • Bozzuto LM.
    • Best Pract Res Clin Obstet Gynaecol. 2022 Sep;83:36-45. doi: 10.1016/j.bpobgyn.2021.11.012. Epub 2021 Dec 8.
    • Review
    • Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
    • Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK.
    • Genet Med. 2022 Sep;24(9):1867-1877. doi: 10.1016/j.gim.2022.05.002. Epub 2022 Jun 3.
    • Optimal breast cancer risk reduction policies tailored to personal risk level.
    • Ergun MA, Hajjar A, Alagoz O, Rampurwala M.
    • Health Care Manag Sci. 2022 Sep;25(3):363-388. doi: 10.1007/s10729-022-09596-2. Epub 2022 Jun 10.
    • Active Surveillance in Intermediate-Risk Prostate Cancer: A Review of the Current Data.
    • Blas L, Shiota M, Eto M.
    • Cancers (Basel). 2022 Aug 27;14(17):4161. doi: 10.3390/cancers14174161.
    • Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes.
    • Comeaux JG, Culver JO, Lee JE, Dondanville D, McArthur HL, Quinn E, Gorman N, Ricker C, Li M, Lerman C.
    • Mol Genet Genomic Med. 2022 Aug 25:e2031. doi: 10.1002/mgg3.2031. Epub ahead of print.
    • Current Screening Strategies for Pancreatic Cancer.
    • Vanek P, Urban O, Zoundjiekpon V, Falt P.
    • Biomedicines. 2022 Aug 23;10(9):2056. doi: 10.3390/biomedicines10092056.
    • Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system.
    • Knerr S, Guo B, Mittendorf KF, Feigelson HS, Gilmore MJ, Jarvik GP, Kauffman TL, Keast E, Lynch FL, Muessig KR, Okuyama S, Veenstra DL, Zepp JM, Goddard KAB, Devine B.
    • Cancer. 2022 Aug 15;128(16):3090-3098. doi: 10.1002/cncr.34349. Epub 2022 Jun 9.
    • What are the considerations in patient selection and timing of risk-reducing mastectomy?
    • Pederson HJ, Kurian AW, Al Hilli Z.
    • Cleve Clin J Med. 2022 Aug 1;89(8):442-444. doi: 10.3949/ccjm.89a.21114.
    • Global guidelines for breast cancer screening: A systematic review.
    • Ren W, Chen M, Qiao Y, Zhao F.
    • Breast. 2022 Aug;64:85-99. doi: 10.1016/j.breast.2022.04.003. Epub 2022 Apr 19.
    • Study: Risk-reducing ovarian cancer surgery and quality of life.
    • [No author given]
    • FORCE. XRAY. 2022 Jul 26.

    Related:

    Original research:

    Association of Salpingectomy With Delayed Oophorectomy Versus Salpingo-oophorectomy With Quality of Life in BRCA1/2 Pathogenic Variant Carriers: A Nonrandomized Controlled Trial.

    • Building on More Than 20 Years of Progress in Pancreatic Cancer Surveillance for High-Risk Individuals.
    • Yurgelun MB.
    • J Clin Oncol. 2022 Jul 21:JCO2201287. doi: 10.1200/JCO.22.01287. Epub ahead of print.

    Related:

    Original research:

    The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.

    Original research:

    Pancreatic Cancer Surveillance in Carriers of a Germline CDKN2A Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up.

    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
    • Yoshimura A, Imoto I, Iwata H.
    • Int J Mol Sci. 2022 Jul 5;23(13):7481. doi: 10.3390/ijms23137481.
    • 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.
    • Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations.
    • Geczik AM, Ferris JS, Terry MB, Andrulis IL, Buys SS, Daly MB, Hopper JL, John EM, Kurian AW, Southey MC, Liao Y, Genkinger JM.
    • Breast Cancer Res Treat. 2022 Jul 2. doi: 10.1007/s10549-022-06656-7. Epub ahead of print.
    • Genetic testing in prostate cancer management: Considerations informing primary care.
    • Giri VN, Morgan TM, Morris DS, Berchuck JE, Hyatt C, Taplin ME.
    • CA Cancer J Clin. 2022 Jul;72(4):360-371. doi: 10.3322/caac.21720. Epub 2022 Feb 24.
    • Cancer risk-reducing surgery: Brazilian society of surgical oncology guideline part 1 (gynecology and breast).
    • Carneiro VCG, Gifoni ACLVC, Mauro Rossi B, Andrade CEMDC, Lima FT, Galvão HCR, Casali da Rocha JC, Silva Barreto LSD, Ashton-Prolla P, Guindalini RSC, Farias TP, Andrade WP, Fernandes PHS, Ribeiro R, Lopes A, Tsunoda AT, Azevedo BRB, Marins CAM, Oliveira Uchôa DNA, Dos Santos EAS, Fernández Coimbra FJ, Dias Filho FA, Lopes FCO, Fernandes FG, Ritt GF, Laporte GA, Guimaraes GC, Feitosa E Castro Neto H, Dos Santos JC, de Carvalho Vilela JB, Meinhardt Junior JG, Cunha JRD, Medeiros Milhomem L, da Silva LM, Maciel LF, Ramalho NM, Leite Nunes R, Guido de Araújo R, de Assunção Ehrhardt R, Delgado Bocanegra RE, Silva Junior TC, Oliveira VR, Silva Surimã W, de Melo Melquiades M, Ribeiro HSC, Oliveira AF.
    • J Surg Oncol. 2022 Jul;126(1):10-19. doi: 10.1002/jso.26812.
    • Guideline
    • Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care.
    • Casolino R, Corbo V, Beer P, Hwang CI, Paiella S, Silvestri V, Ottini L, Biankin AV.
    • Cancers (Basel). 2022 Jun 30;14(13):3239. doi: 10.3390/cancers14133239.
    • Current status of inherited pancreatic cancer.
    • Olakowski M, Buldak L.
    • Hered Cancer Clin Pract. 2022 Jun 27;20(1):26. doi: 10.1186/s13053-022-00224-2.
    • ASGE Expands BRCA Screening for Pancreatic Cancer.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Jun 9.

    Related:

    Guideline summary:

    ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations.

    Guideline:

    American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence.

    • Cancer genetics and breast cancer.
    • Huber-Keener KJ.
    • Best Pract Res Clin Obstet Gynaecol. 2022 Jun;82:3-11. doi: 10.1016/j.bpobgyn.2022.01.007. Epub 2022 Jan 31.
    • Review
    • Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.
    • Garrett AA, Mahdi H.
    • JCO Oncol Pract. 2022 Jun;18(6):e846-e848. doi: 10.1200/OP.22.00069. Epub 2022 Mar 8.

    Related:

    Original research:

    Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.

    • Breast cancer risk for transgender men with inherited mutations.
    • [No author given]
    • FORCE. XRAY. 2022 May 19.

    Related:

    Commentary:

    BRCA Mutations and the Implications in Transgender Individuals Undergoing Top Surgery: An Operative Dilemma.

    • Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
    • Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, Gaonkar S, Vaccari E, Kane S, Michalski ST, Yang S, Nielsen SM, Bristow SL, Lincoln SE, Nussbaum RL, Esplin ED.
    • Cancers (Basel). 2022 May 13;14(10):2426. doi: 10.3390/cancers14102426.
    • ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations.
    • Sawhney MS, Calderwood AH, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Qumseya BJ; Prepared by: ASGE STANDARDS OF PRACTICE COMMITTEE.
    • Gastrointest Endosc. 2022 May;95(5):817-826. doi: 10.1016/j.gie.2021.12.001. Epub 2022 Feb 16.

    Related:

    Guideline:

    American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence.

    Video: 2022 May Author Interview-Bashar Qumseya, Mandeep S. Sawhney, and Audrey H. Calderwood. (Author Interview Series / YouTube)

    News: ASGE Expands BRCA Screening for Pancreatic Cancer. (Inside Precision Medicine)

    • Male Breast Cancer: From Molecular Genetics to Clinical Management.
    • Pensabene M, Von Arx C, De Laurentiis M.
    • Cancers (Basel). 2022 Apr 15;14(8):2006. doi: 10.3390/cancers14082006.
    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK.
    • Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.
    • Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors.
    • Schmutzler RK, Schmitz-Luhn B, Borisch B, Devilee P, Eccles D, Hall P, Balmaña J, Boccia S, Dabrock P, Emons G, Gaissmaier W, Gronwald J, Houwaart S, Huster S, Kast K, Katalinic A, Linn SC, Moorthie S, Pharoah P, Rhiem K, Spranger T, Stoppa-Lyonnet D, van Delden JJM, van den Bulcke M, Woopen C.
    • Breast Care (Basel). 2022 Apr;17(2):208-223. doi: 10.1159/000517182. Epub 2021 Aug 12.
    • Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.
    • Treese C, Siegmund B, Daum S.
    • Curr Oncol. 2022 Mar 30;29(4):2454-2460. doi: 10.3390/curroncol29040199.
    • Do current family history-based genetic testing guidelines contribute to breast cancer health inequities?
    • Jakuboski SH, McDonald JA, Terry MB.
    • NPJ Breast Cancer. 2022 Mar 22;8(1):36. doi: 10.1038/s41523-022-00391-4.
    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky JS, Kurian AW.
    • JNCI Cancer Spectr. 2022 Mar 2;6(2):pkac002. doi: 10.1093/jncics/pkac002.
    • Breast cancer risk evaluation for the primary care physician.
    • Klassen CL, Gilman E, Kaur A, Lester SP, Pruthi S.
    • Cleve Clin J Med. 2022 Mar 1;89(3):139-146. doi: 10.3949/ccjm.89a.21023.
    • Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
    • Liu YL, Breen K, Catchings A, Ranganathan M, Latham A, Goldfrank DJ, Grisham RN, Long Roche K, Frey MK, Chi DS, Abu-Rustum N, Aghajanian C, Offit K, Stadler ZK.
    • JCO Oncol Pract. 2022 Mar;18(3):201-209. doi: 10.1200/OP.21.00382. Epub 2021 Sep 28.

    Related:

    Commentary:

    Prophylactic Salpingo-Opphorectomy in Patients With Hereditary Predisposition Genes for Ovarian Cancer.

    • Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers.
    • Clark R, Herrera-Caceres J, Kenk M, Fleshner N.
    • Cancers (Basel). 2022 Feb 16;14(4):1004. doi: 10.3390/cancers14041004.
    • Improving the quality of care for patients with advanced epithelial ovarian cancer: Program components, implementation barriers, and recommendations.
    • Temkin SM, Smeltzer MP, Dawkins MD, Boehmer LM, Senter L, Black DR, Blank SV, Yemelyanova A, Magliocco AM, Finkel MA, Moore TE, Thaker PH.
    • Cancer. 2022 Feb 15;128(4):654-664. doi: 10.1002/cncr.34023. Epub 2021 Nov 17.
    • Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
    • Samuel D, Diaz-Barbe A, Pinto A, Schlumbrecht M, George S.
    • Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539.
    • Indications des mastectomies de réduction de risque en dehors du risque avéré de prédisposition héréditaire : recommandations du Collège national des gynécologues et obstétriciens français (CNGOF) [Non-genetic indications for risk reducing mastectomies: Guidelines of the National College of French Gynecologists and Obstetricians (CNGOF)].
    • Mathelin C, Barranger E, Boisserie-Lacroix M, Boutet G, Brousse S, Chabbert-Buffet N, Coutant C, Daraï E, Delpech Y, Duraes M, Espié M, Fornecker L, Golfier F, Grosclaude P, Hamy AS, Kermarrec E, Lavoué V, Lodi M, Luporsi É, Maugard CM, Molière S, Seror JY, Taris N, Uzan C, Vaysse C, Fritel X.
    • Gynecol Obstet Fertil Senol. 2022 Feb;50(2):107-120. French. doi: 10.1016/j.gofs.2021.12.005. Epub 2021 Dec 14.
    • Guideline, [Article in French]
    • Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
    • Ivanov M, Sharova M, Olsen A, Lebedeva A, Ignatova E, Mouse G, Mileyko V.
    • J Natl Compr Canc Netw. 2022 Feb;20(2):xxv. doi: 10.6004/jnccn.2021.7103.

    Related:

    Guideline:

    Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

    • Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
    • Kasuga A, Okamoto T, Udagawa S, Mori C, Mie T, Furukawa T, Yamada Y, Takeda T, Matsuyama M, Sasaki T, Ozaka M, Ueki A, Sasahira N.
    • Int J Mol Sci. 2022 Jan 21;23(3):1205. doi: 10.3390/ijms23031205.
    • BRCA Mutations and the Implications in Transgender Individuals Undergoing Top Surgery: An Operative Dilemma.
    • Jaber C, Ralph O, Hamidian Jahromi A.
    • Plast Reconstr Surg Glob Open. 2022 Jan 10;10(1):e4012. doi: 10.1097/GOX.0000000000004012.

    Related:

    Research news: Breast cancer risk for transgender men with inherited mutations. (FORCE. XRAY)

    • Risk-Reducing Salpingo-Oophorectomy and the Use of Hormone Replacement Therapy Below the Age of Natural Menopause: Scientific Impact Paper No. 66 October 2021: Scientific Impact Paper No. 66.
    • Manchanda R, Gaba F, Talaulikar V, Pundir J, Gessler S, Davies M, Menon U; Royal College of Obstetricians and Gynaecologists.
    • BJOG. 2022 Jan;129(1):e16-e34. doi: 10.1111/1471-0528.16896. Epub 2021 Oct 20.
    • Genetic predisposition to prostate cancer: an update.
    • Ni Raghallaigh H, Eeles R.
    • Fam Cancer. 2022 Jan;21(1):101-114. doi: 10.1007/s10689-021-00227-3. Epub 2021 Jan 24.
    • 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.
    • Commentary
    • Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
    • Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3.
    • Eur J Med Genet. 2021 Dec;64(12):104350. doi: 10.1016/j.ejmg.2021.104350. Epub 2021 Oct 1.
    • Review
    • Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
    • Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, Nakagawara A, Tsunematsu Y.
    • Int J Clin Oncol. 2021 Dec;26(12):2161-2178. doi: 10.1007/s10147-021-02011-w. Epub 2021 Oct 11. Erratum in: Int J Clin Oncol. 2021 Dec 3;:
    • Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
    • Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB.
    • J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9.
    • Guideline No. 422f: Menopause and Breast Cancer.
    • Jacobson M, Mills K, Graves G, Wolfman W, Fortier M.
    • J Obstet Gynaecol Can. 2021 Dec;43(12):1450-1456.e1. doi: 10.1016/j.jogc.2021.09.011. Epub 2021 Nov 17.
    • Guideline
    • Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations.
    • Curtin C.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 Nov 19.
    • Press, Conference report

    Related:

    Original research:

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

    • Uptake and timing of risk-reducing salpingo-oophorectomy among patients with BRCA1/2 mutations.
    • Smith MJ, Gerber D, Olsen A, Khouri OR, Wang Y, Liu M, Smith J, Pothuri B.
    • Am J Obstet Gynecol. 2021 Nov;225(5):508.e1-508.e10. doi: 10.1016/j.ajog.2021.06.070. Epub 2021 Jun 23.
    • Breast cancer screening for women at high risk: review of current guidelines from leading specialty societies.
    • Onishi N, Kataoka M.
    • Breast Cancer. 2021 Nov;28(6):1195-1211. doi: 10.1007/s12282-020-01157-1. Epub 2020 Sep 21.
    • Review
    • Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.
    • Chiang J, Chia TH, Yuen J, Shaw T, Li ST, Binte Ishak ND, Chew EL, Chong ST, Chan SH, Ngeow J.
    • JCO Precis Oncol. 2021 Nov;5:577-584. doi: 10.1200/PO.20.00399.
    • Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
    • Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM.
    • Cancers (Basel). 2021 Oct 13;13(20):5121. doi: 10.3390/cancers13205121.
    • Customizing local and systemic therapies for women with early breast cancer: the St. Gallen International Consensus Guidelines for treatment of early breast cancer 2021.
    • Burstein HJ, Curigliano G, Thürlimann B, Weber WP, Poortmans P, Regan MM, Senn HJ, Winer EP, Gnant M; Panelists of the St Gallen Consensus Conference.
    • Ann Oncol. 2021 Oct;32(10):1216-1235. doi: 10.1016/j.annonc.2021.06.023. Epub 2021 Jul 6.
    • 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.
    • Risk reduction strategies for BRCA1/2 hereditary ovarian cancer syndromes: a clinical practice guideline.
    • Jacobson M, Coakley N, Bernardini M, Branco KA, Elit L, Ferguson S, Kim R.
    • Hered Cancer Clin Pract. 2021 Sep 26;19(1):39. doi: 10.1186/s13053-021-00196-9.
    • Researchers Call for More Uniformity in Cancer Genetic Testing, Risk Guidelines in Europe.
    • Kanski A.
    • Precision Oncology News. 2021 Sep 19.
    • News
    • Contralateral prophylactic mastectomy in the setting of breast cancer diagnosis and their insurance coverage in the United States.
    • Ha M, Ngaage LM, Klein M, Yang A, Colohan SM, Nurudeen SM, Terhune JH, Slezak S, Rasko YM.
    • Breast J. 2021 Sep 15. doi: 10.1111/tbj.14280. Epub ahead of print.
    • Should Age-Dependent Absolute Risk Thresholds Be Used for Risk Stratification in Risk-Stratified Breast Cancer Screening?
    • Pashayan N, Antoniou AC, Lee A, Wolfson M, Chiquette J, Eloy L, Eisen A, Stockley TL, Nabi H, Brooks JD, Dorval M, Easton DF, Knoppers BM, Chiarelli AM, Simard J.
    • J Pers Med. 2021 Sep 15;11(9):916. doi: 10.3390/jpm11090916.
    • Frequency of Contralateral Prophylactic Mastectomy in Breast Cancer Patients with a Negative BRCA1 and BRCA2 Rapid Genetic Test Result.
    • Metcalfe KA, Eisen A, Poll A, Candib A, McCready D, Cil T, Wright F, Demsky R, Mancuso T, Sun P, Narod SA.
    • Ann Surg Oncol. 2021 Sep;28(9):4967-4973. doi: 10.1245/s10434-021-09855-6. Epub 2021 Mar 24.

    Related:

    Commentary:

    Genetic Testing and De-escalation of Contralateral Prophylactic Mastectomy.

    • Surgical Management of Hereditary Breast Cancer.
    • Berger ER, Golshan M.
    • Genes (Basel). 2021 Aug 31;12(9):1371. doi: 10.3390/genes12091371.
    • Editorial: HBOC and high-risk screening: up-to-date.
    • Kataoka M.
    • Breast Cancer. 2021 Aug 23. doi: 10.1007/s12282-021-01284-3. Epub ahead of print.
    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
    • Vaidyanathan A, Kaklamani V.
    • Curr Treat Options Oncol. 2021 Aug 23;22(10):85. doi: 10.1007/s11864-021-00887-4.
    • Review
    • 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.
    • Dealing with cancer screening in the COVID-19 era.
    • Fagundes TP, Albuquerque RM, Miranda DLP, Landeiro LCG, Ayres GSF, Correia CCE, Nogueira-Rodrigues A.
    • Rev Assoc Med Bras (1992). 2021 Aug 13;67Suppl 1(Suppl 1):86-90. doi: 10.1590/1806-9282.67.Suppl1.20200889.
    • Bilateral salpingo-oophorectomy and breast cancer risk for BRCA1 and BRCA2 mutation carriers: Assessing the evidence.
    • Conduit C, Milne RL, Friedlander ML, Phillips KA.
    • Cancer Prev Res (Phila). 2021 Aug 4:canprevres.0141.2021. doi: 10.1158/1940-6207.CAPR-21-0141. Epub ahead of print.
    • Surgical management of BRCA pathogenic variant carriers with breast cancer: a recent literature review and current state of the art.
    • Terribile DA, Mason EJ, Murando F, DI Leone A, Sanchez AM, Scardina L, Magno S, Franco A, D'Archi S, Natale M, Lucci Cordisco E, Masetti R, Franceschini G.
    • Minerva Surg. 2021 Aug 2. doi: 10.23736/S2724-5691.21.09009-2. Epub ahead of print.
    • Review
    • Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    • Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee.
    • Genet Med. 2021 Aug;23(8):1416-1423. doi: 10.1038/s41436-021-01151-8. Epub 2021 May 11.
    • Guidelines
    • 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.
    • No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
    • Imbert-Bouteille M, Corsini C, Picot MC, Mizrahy L, Akouete S, Huguet H, Thomas F, Geneviève D, Taourel P, Ychou M, Galibert V, Rideau C, Baudry K, Kogut Kubiak T, Coupier I, Hobeika R, Macary Y, Toledano A, Solassol J, Maalouf A, Daures JP, Pujol P.
    • Genes (Basel). 2021 Jul 20;12(7):1100. doi: 10.3390/genes12071100.
    • BRCA, breast cancer and in vitro fertilization: How should we advise our patients?
    • García-Planells J, Francés BS, Diez-Juan A.
    • Fertil Steril. 2021 Jul 8:S0015-0282(21)00505-7. doi: 10.1016/j.fertnstert.2021.06.011. Epub ahead of print.

    Related:

    Original research:

    Fertility treatments and breast cancer risk in Jewish Israeli BRCA mutation carriers.

    • Clinical practice guideline of BRCA1/2 testing for patients with breast cancer: Chinese Society of Breast Surgery (CSBrS) practice guideline 2021.
    • Xie F, Wang S.
    • Chin Med J (Engl). 2021 Jun 4;134(13):1516-1518. doi: 10.1097/CM9.0000000000001587.
    • Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I).
    • Brooks JD, Nabi HH, Andrulis IL, Antoniou AC, Chiquette J, Després P, Devilee P, Dorval M, Droit A, Easton DF, Eisen A, Eloy L, Fienberg S, Goldgar D, Hahnen E, Joly Y, Knoppers BM, Lofters A, Masson JY, Mittmann N, Paquette JS, Pashayan N, Schmutzler R, Stockley T, Tavtigian SV, Walker MJ, Wolfson M, Chiarelli AM, Simard J.
    • J Pers Med. 2021 Jun 4;11(6):511. doi: 10.3390/jpm11060511.
    • Decision Aids for Preventive Treatment Alternatives for BRCA1/2 Mutation Carriers: a Systematic Review.
    • Krassuski LM, Kautz-Freimuth S, Vennedey V, Rhiem K, Schmutzler RK, Stock S.
    • Geburtshilfe Frauenheilkd. 2021 Jun;81(6):679-698. doi: 10.1055/a-1326-1792. Epub 2021 Jun 21.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • Risk-Adjusted Prevention. Perspectives on the Governance of Entitlements to Benefits in the Case of Genetic (Breast Cancer) Risks.
    • Meier F, Harney A, Rhiem K, Neusser S, Neumann A, Braun M, Wasem J, Huster S, Dabrock P, Schmutzler RK.
    • Recent Results Cancer Res. 2021 [First Online: 22 May 2021];218:47-66. doi: 10.1007/978-3-030-63749-1_5.
    • eBook chapter
    • A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How?
    • Cai Y, Li J, Gao Y, Yang K, He J, Li N, Tian J.
    • Cancer Med. 2021 May;10(10):3437-3448. doi: 10.1002/cam4.3898. Epub 2021 May 1.
    • CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
    • Apostolou P, Dellatola V, Papadimitriou C, Kalfakakou D, Fountzilas E, Faliakou E, Fountzilas G, Romanidou O, Konstantopoulou I, Fostira F.
    • Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
    • Management of patients with BRCA mutation from the point of view of a breast surgeon.
    • Riis ML.
    • Ann Med Surg (Lond). 2021 Apr 16;65:102311. doi: 10.1016/j.amsu.2021.102311.
    • Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice.
    • Meiser B, Kaur R, Morrow A, Peate M, Wong WKT, McPike E, Cops E, Nichols C, Austin R, Fine M, Thrupp L, Ward R, Macrae F, Hiller JE, Trainer AH, Mitchell G; ICCon Audit Study Collaborative Group.
    • Hered Cancer Clin Pract. 2021 Apr 9;19(1):24. doi: 10.1186/s13053-021-00180-3.
    • Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention.
    • Vietri MT, D'Elia G, Caliendo G, Resse M, Casamassimi A, Passariello L, Albanese L, Cioffi M, Molinari AM.
    • Int J Mol Sci. 2021 Apr 4;22(7):3753. doi: 10.3390/ijms22073753.
    • Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.
    • Zhu H, Welinsky S, Soper ER, Brown KL, Abul-Husn NS, Lucas AL.
    • Pancreas. 2021 Apr 1;50(4):602-606. doi: 10.1097/MPA.0000000000001804.
    • Contralateral prophylactic mastectomy: A narrative review of the evidence and acceptability.
    • Scheepens JCC, van 't Veer L, Esserman L, Belkora J, Mukhtar RA.
    • Breast. 2021 Apr;56:61-69. doi: 10.1016/j.breast.2021.02.003. Epub 2021 Feb 10.
    • Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
    • Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Forged Genetic Test Report Leads to Incorrect Management.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2021 Mar 1.
    • Ovarian cancer risk in Lynch syndrome: it's time to individualise.
    • Ring KL.
    • BJOG. 2021 Mar;128(4):737. doi: 10.1111/1471-0528.16481. Epub 2020 Sep 29.

    Related:

    Original research:

    A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome

    • The 2020 Japan Society of Gynecologic Oncology guidelines for the treatment of ovarian cancer, fallopian tube cancer, and primary peritoneal cancer.
    • Tokunaga H, Mikami M, Nagase S, Kobayashi Y, Tabata T, Kaneuchi M, Satoh T, Hirashima Y, Matsumura N, Yokoyama Y, Kawana K, Kyo S, Aoki D, Katabuchi H.
    • J Gynecol Oncol. 2021 Mar;32(2):e49. doi: 10.3802/jgo.2021.32.e49.
    • EAU-EANM-ESTRO-ESUR-SIOG Guidelines on Prostate Cancer-2020 Update. Part 1: Screening, Diagnosis, and Local Treatment with Curative Intent.
    • Mottet N, van den Bergh RCN, Briers E, Van den Broeck T, Cumberbatch MG, De Santis M, Fanti S, Fossati N, Gandaglia G, Gillessen S, Grivas N, Grummet J, Henry AM, van der Kwast TH, Lam TB, Lardas M, Liew M, Mason MD, Moris L, Oprea-Lager DE, van der Poel HG, Rouvière O, Schoots IG, Tilki D, Wiegel T, Willemse PM, Cornford P.
    • Eur Urol. 2021 Feb;79(2):243-262. doi: 10.1016/j.eururo.2020.09.042. Epub 2020 Nov 7.
    • Guidelines, Review
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Genetic predisposition to prostate cancer: an update.
    • Raghallaigh HN, Eeles R.
    • Fam Cancer. 2021 Jan 24. doi: 10.1007/s10689-021-00227-3. Epub ahead of print.
    • Screening and Preventative Strategies for Patients at High Risk for Breast Cancer.
    • Ter-Minassian M, Schaeffer ML, Jefferson CR, Shapiro SC, Suwannarat P, Visvanathan K.
    • JCO Oncol Pract. 2021 Jan 11:OP2000262. doi: 10.1200/OP.20.00262. Epub ahead of print.
    • Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors.
    • Berliner JL, Cummings SA, Boldt Burnett B, Ricker CN.
    • J Genet Couns. 2021 Jan 7. doi: 10.1002/jgc4.1374. Epub ahead of print.
    • Guidelines
    • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.
    • Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC, Karlan BY, Khan S, Klein C, Kohlmann W; CGC, Kurian AW, Laronga C, Litton JK, Mak JS; LCGC, Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC, Senter-Jamieson L; CGC, Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA.
    • J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.
    • New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
    • Evans DG, Woodward ER.
    • Fam Cancer. 2021 Jan;20(1):1-7. doi: 10.1007/s10689-020-00207-z.
    • Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England.
    • Lee SI, Curtis H, Qureshi S, Dutton B, Qureshi N.
    • J Community Genet. 2021 Jan;12(1):111-120. doi: 10.1007/s12687-020-00490-4. Epub 2020 Oct 28.
    • Genetic Testing Challenges in Oncology: Woman Without High Breast Cancer Risk Recommended Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Dec 22.
    • CA125 and Ovarian Cancer: A Comprehensive Review.
    • Charkhchi P, Cybulski C, Gronwald J, Wong FO, Narod SA, Akbari MR.
    • Cancers (Basel). 2020 Dec 11;12(12):3730. doi: 10.3390/cancers12123730.
    • Genetics and the Gynecologic Patient.
    • Wade KS, Estes JM, Kline RC.
    • Ochsner J. 2020 Winter;20(4):446-451. doi: 10.31486/toj.20.0051.
    • Fertility preservation and post-treatment pregnancies in post-pubertal cancer patients: ESMO Clinical Practice Guidelines†.
    • Lambertini M, Peccatori FA, Demeestere I, Amant F, Wyns C, Stukenborg JB, Paluch-Shimon S, Halaska MJ, Uzan C, Meissner J, von Wolff M, Anderson RA, Jordan K; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org.
    • Ann Oncol. 2020 Dec;31(12):1664-1678. doi: 10.1016/j.annonc.2020.09.006. Epub 2020 Sep 22.
    • Genetic Testing Challenges in Oncology: BRCA2-Positive Healthy Young Man Recommended Mastectomy.
    • Ray T.
    • Precision Oncology News. 2020 Nov 25.
    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

    Related:

    Press: Many supposed breast cancer risk genes don’t raise risk, studies find. (The Philadelphia Inquirer)

    Blog post: My Gene Counsel Quoted in The Philadelphia Inquirer. (My Gene Counsel)

    Original research:

    Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

    • NCCN Updates Guidelines Advising Against Using Polygenic Risk Scores Outside of Clinical Trials.
    • [No author given]
    • GenomeWeb. Diagnostics. 2020 Sep 10.
    • Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
    • Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
    • Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24110. Epub ahead of print.
    • Strategies to enhance identification of hereditary breast cancer gene carriers.
    • Reid S, Spalluto LB, Pal T.
    • Expert Rev Mol Diagn. 2020 Aug 28. doi: 10.1080/14737159.2020.1816829. Epub ahead of print.
    • Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ.
    • J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290.
    • Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
    • Ray T.
    • Precision Oncology News. 2020 Jul 1.
    • ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer.
    • Trombetta MG, Dragun A, Mayr NA, Pierce LJ.
    • Pract Radiat Oncol. 2020 Jul-Aug;10(4):235-242. doi: 10.1016/j.prro.2020.04.003. Epub 2020 May 21.

    Related:

    Guideline:

    Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.

    • Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.
    • Malhotra H, Kowtal P, Mehra N, Pramank R, Sarin R, Rajkumar T, Gupta S, Bapna A, Bhattacharyya GS, Gupta S, Maheshwari A, Mannan AU, Reddy Kundur R, Sekhon R, Singhal M, Smruti BK, Sp S, Suryavanshi M, Verma A.
    • JCO Glob Oncol. 2020 Jul;6:991-1008. doi: 10.1200/JGO.19.00381.
    • A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results.
    • Scherr CL, Ross Arguedas AA, Getachew-Smith H, Marshall-Fricker C, Shrestha N, Brooks K, Fischhoff B, Vadaparampil ST.
    • Med Decis Making. 2020 Jul;40(5):655-668. doi: 10.1177/0272989X20935864.
    • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
    • Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG; Consensus Group Members.
    • J Med Genet. 2020 Jun 22:jmedgenet-2020-106876. doi: 10.1136/jmedgenet-2020-106876. Epub ahead of print.
    • Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
    • Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D.
    • J Clin Oncol. 2020 Jun 20;38(18):2080-2106. doi: 10.1200/JCO.20.00299. Epub 2020 Apr 3.

    Related:

    Summary, Review:

    Management of Hereditary Breast Cancer: ASCO, ASTRO, and SSO Guideline.

    Summary, Review:

    ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer.

    Commentary, Review:

    Updates on Management of Hereditary Breast Cancer: New Data on PARP Inhibitors Change Recommendations Regarding the Multidisciplinary Care of Breast Cancer Patients with BRCA Mutations.

    • Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
    • Dullens B, de Putter R, Lambertini M, Toss A, Han S, Van Nieuwenhuysen E, Van Gorp T, Vanderstichele A, Van Ongeval C, Keupers M, Prevos R, Celis V, Dekervel J, Everaerts W, Wildiers H, Nevelsteen I, Neven P, Timmerman D, Smeets A, Denayer E, Van Buggenhout G, Legius E, Punie K.
    • J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954.
    • 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.
    • Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.
    • Chelmow D, Pearlman MD, Young A, Bozzuto L, Dayaratna S, Jeudy M, Kremer ME, Scott DM, O'Hara JS.
    • Obstet Gynecol. 2020 Jun;135(6):1457-1478. doi: 10.1097/AOG.0000000000003889.
    • AGA Clinical Practice Update on Pancreas Cancer Screening in High Risk Individuals: Expert Review.
    • Aslanian HR, Lee JH, Canto MI.
    • Gastroenterology. 2020 May 13:S0016-5085(20)30657-0. doi: 10.1053/j.gastro.2020.03.088. Epub ahead of print.
    • Review, Practice Guideline
    • AGA Clinical Practice Update on Colorectal and Pancreatic Cancer Risk and Screening in BRCA1 and BRCA2 carriers: Commentary.
    • Kupfer SS, Gupta S, Weitzel JN, Samadder J.
    • Gastroenterology. 2020 Apr 23. pii: S0016-5085(20)30562-X. doi: 10.1053/j.gastro.2020.03.086. [Epub ahead of print]
    • Genetic Testing Challenges in Oncology: Patient With BRCA1 VUS Has Prophylactic Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Apr 6.
    • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
    • Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD.
    • J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.

    Related:

    Continuing Education course: NCCN Guidelines® Insights - Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. (NCCN Continuing Education)

    • Wer braucht eine genetische Beratung? [Who must be referred for genetic counseling?].
    • Monnerat C, Dobbie M.
    • Ther Umsch. 2021 Apr;78(3):145-148. German. doi: 10.1024/0040-5930/a001251.
    • Review, [Article in German]
    • Hereditary and Sporadic Pancreatic Ductal Adenocarcinoma: Current Update on Genetics and Imaging.
    • Morani AC, Hanafy AK, Ramani NS, Katabathina VS, Yedururi S, Dasyam AK, Prasad SR.
    • Radiol Imaging Cancer. 2020 Mar 13;2(2):e190020. doi: 10.1148/rycan.2020190020.
    • Precision Prevention: The Current State and Future of Genomically Guided Cancer Prevention.
    • Kassem N, Stout LA, Hunter C, Schneider B, Radovich M.
    • JCO Precis Oncol. 2020;4:96. doi: 10.1200/PO.19.00278. Epub 2020 Feb 26.
    • Hormone therapy (HT) in women with gynecologic cancers and in women at high risk for developing a gynecologic cancer: A Society of Gynecologic Oncology (SGO) clinical practice statement: This practice statement has been endorsed by The North American Menopause Society.
    • Sinno AK, Pinkerton J, Febbraro T, Jones N, Khanna N, Temkin S, Iglesias D, Pothuri B.
    • Gynecol Oncol. 2020 Feb 14. pii: S0090-8258(20)30088-3. doi: 10.1016/j.ygyno.2020.01.035. [Epub ahead of print]
    • Guidelines
    • Serous Tubal Intraepithelial Carcinoma: A Concise Review for the Practicing Pathologist and Clinician.
    • Bachert SE, McDowell A Jr, Piecoro D, Baldwin Branch L.
    • Diagnostics (Basel). 2020 Feb 13;10(2). pii: E102. doi: 10.3390/diagnostics10020102.
    • Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program.
    • Hao J, Hassen D, Manickam K, Murray MF, Hartzel DN, Hu Y, Liu K, Rahm AK, Williams MS, Lazzeri A, Buchanan A, Sturm A, Snyder SR.
    • J Pers Med. 2020 Feb 3;10(1). pii: E7. doi: 10.3390/jpm10010007.
    • Radiographic Surveillance of Patients with Non-BRCA1/2 Pathogenic Variants.
    • Hudson L, Gower N, Lenarcic S, Trufan SJ, White RL Jr.
    • Ann Surg Oncol. 2020 Jan 23. doi: 10.1245/s10434-019-08191-0. [Epub ahead of print]
    • Breast cancer risk reduction: Notable achievements and remaining challenges.
    • Vogel VG.
    • Breast J. 2020 Jan;26(1):86-91. doi: 10.1111/tbj.13717.
    • SEOM clinical guidelines in hereditary breast and ovarian cancer (2019).
    • González-Santiago S, Ramón Y Cajal T, Aguirre E, Alés-Martínez JE, Andrés R, Balmaña J, Graña B, Herrero A, Llort G, González-Del-Alba A; SEOM Hereditary Cancer Working Group.
    • Clin Transl Oncol. 2019 Dec 30. doi: 10.1007/s12094-019-02262-0. [Epub ahead of print]
    • USPSTF guideline: Offer risk-reducing drugs to women at increased risk for breast cancer and low risk for adverse effects.
    • Batur P.
    • Ann Intern Med. 2019 Dec 17;171(12):JC62. doi: 10.7326/ACPJ201912170-062.
    • Review

    Related:

    Practice Guidelines:

    Medication Use to Reduce Risk of Breast Cancer: US Preventive Services Task Force Recommendation Statement.

    • 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.

    Related:

    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.

    • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, NCCN Guidelines Version 1.2020.
    • Daly MB, Pilarski R, Berry M, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB.
    • NCCN.org. 2019 Dec 4. Version 1.2020.
    • Guidelines

    NCCN Guidelines menu: NCCN Guidelines For Detection, Prevention, & Risk Reduction (National Comprehensive Cancer Network)

    NCCN Guidelines (PDF): Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic - Version 1.2020 — December 4, 2020 (National Comprehensive Cancer Network)

    Related:

    Press: NCCN Updates Genetic Testing Guidelines for Assessing Breast, Ovarian, Pancreatic Cancer Risk. (GenomeWeb)

    Press: NCCN Update Clarifies Genetic Testing Criteria. (MedPage Today®)

    Press: Heartbreaking News, Then Tumor Find Leads to Genetic Testing. (Medscape Oncology)

    • Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer.
    • Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV.
    • medRxiv. 2019 Nov 29. doi: 10.1101/19013086. [Epub ahead of print]

    Related:

    Press: Polygenic Modifiers of Pathogenic Genes May Refine Disease Risk Prediction. (GenomeWeb)

    • Image-based screening for men at high risk for breast cancer: Benefits and drawbacks.
    • Woods RW, Salkowski LR, Elezaby M, Burnside ES, Strigel RM, Fowler AM.
    • Clin Imaging. 2019 Nov 28;60(1):84-89. doi: 10.1016/j.clinimag.2019.11.005. [Epub ahead of print]
    • Review
    • Update: Genetic causes of hereditary pancreatic cancer: BRCA and beyond
    • [No author given]
    • FORCE. XRAYS. 2019 Nov 26.
    • Sporadic implementation of UK familial mammographic surveillance guidelines 15 years after original publication.
    • Evans DG, Edwards M, Duffy SW; Cancer Genetics Group clinical leads, Tischkowitz M.
    • Br J Cancer. 2019 Nov 25. doi: 10.1038/s41416-019-0631-2. [Epub ahead of print]
    • Men With BRCA2 Should Be Screened for Prostate Cancer.
    • Davenport L.
    • Medscape Oncology. 2019 Nov 8.

    Related:

    Original research:

    Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

    • [What attitude to women at high risk of breast cancer?]
    • Livon D, Moretta J, Noguès C.
    • Presse Med. 2019 Nov 6. pii: S0755-4982(19)30302-1. doi: 10.1016/j.lpm.2019.07.014. [Epub ahead of print]
    • Review, [Article in French]
    • Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
    • Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K.
    • Cancer. 2019 Nov 4. doi: 10.1002/cncr.32572. [Epub ahead of print]
    • 2019 exceptional surveillance of familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer (NICE guideline CG164) [Internet].
    • NICE Surveillance programme project team: Nolan K, Allaby M, McFarlane E, Haynes C.
    • London: National Institute for Health and Care Excellence (UK); 2019 Nov.
    • Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer.
    • [No author given]
    • National Institute for Health and Care Excellence (UK): Clinical Guidelines; 2013 Jun. [Last Update: November 2019.]
    • Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
    • Goggins M, Overbeek KA, Brand R, Syngal S, Del Chiaro M, Bartsch DK, Bassi C, Carrato A, Farrell J, Fishman E, Fockens P, Gress TM, van Hooft JE, Hruban RH, Kastrinos F, Klein A, Lennon AM, Lucas A, Park W, Rustgi A, Simeone D, Stoffel E, Vasen HFA, Cahen DL, Canto MI, Bruno M; International Cancer of the Pancreas Screening (CAPS) consortium.
    • Gut. 2019 Oct 31. pii: gutjnl-2019-319352. doi: 10.1136/gutjnl-2019-319352. [Epub ahead of print]

    Related:

    Press: At-Risk Individuals Need Surveillance for Familial Pancreatic Cancer. (Medscape/Reuters)

    • Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian.
    • Daly MB.
    • Can J Urol. 2019 Oct;26(5S2):29-30.
    • Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
    • Page EC, Bancroft EK, Brook MN, Assel M, Hassan Al Battat M, Thomas S, Taylor N, Chamberlain A, Pope J, Raghallaigh HN, Evans DG, Rothwell J, Mahle L, Grindedal EMM, James P, Mascarenhas L, McKinley J, Side L, Thomas T, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Jensen TD, Osther PJS, Helfand BT, Genova E, Oldenburg RA, Cybulski C, Wokolorczyk D, Ong KR, Huber C, Lam J, Taylor L, Salinas M, Feliubadaló L, Oosterwijk JC, van Zelst-Stams W, Cook J, Rosario DJ, Domchek S, Powers J, Buys S, O'Toole K, Ausems MGEM, Schmutzler RK, Rhiem K, Izatt L, Tripathi V, Teixeira MR, Cardoso M, Foulkes WD, Aprikian A, van Randeraad H, Davidson R, Longmuir M, Ruijs MWG, Helderman van den Enden ATJM, Adank M, Williams R, Andrews L, Murphy DG, Halliday D, Walker L, Liljegren A, Carlsson S, Azzabi A, Jobson I, Morton C, Shackleton K, Snape K, Hanson H, Harris M, Tischkowitz M, Taylor A, Kirk J, Susman R, Chen-Shtoyerman R, Spigelman A, Pachter N, Ahmed M, Ramon Y Cajal T, Zgajnar J, Brewer C, Gadea N, Brady AF, van Os T, Gallagher D, Johannsson O, Donaldson A, Barwell J, Nicolai N, Friedman E, Obeid E, Greenhalgh L, Murthy V, Copakova L, Saya S, McGrath J, Cooke P, Rønlund K, Richardson K, Henderson A, Teo SH, Arun B, Kast K, Dias A, Aaronson NK, Ardern-Jones A, Bangma CH, Castro E, Dearnaley D, Eccles DM, Tricker K, Eyfjord J, Falconer A, Foster C, Gronberg H, Hamdy FC, Stefansdottir V, Khoo V, Lindeman GJ, Lubinski J, Axcrona K, Mikropoulos C, Mitra A, Moynihan C, Rennert G, Suri M, Wilson P, Dudderidge T; IMPACT Study Collaborators, Offman J, Kote-Jarai Z, Vickers A, Lilja H, Eeles RA.
    • Eur Urol. 2019 Sep 12. pii: S0302-2838(19)30668-2. doi: 10.1016/j.eururo.2019.08.019. [Epub ahead of print]

    Related:

    Research news, Conference report: Men With BRCA2 Should Be Screened for Prostate Cancer. (Medscape)

    Research news: The IMPACT of BRCA2 in prostate cancer. (Nature Reviews Urology)

    • Medication Use to Reduce Risk of Breast Cancer: US Preventive Services Task Force Recommendation Statement.
    • US Preventive Services Task Force, Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, Caughey AB, Doubeni CA, Epling JW Jr, Kubik M, Landefeld CS, Mangione CM, Pbert L, Silverstein M, Tseng CW, Wong JB.
    • JAMA. 2019 Sep 3;322(9):857-867. doi: 10.1001/jama.2019.11885.

    Related:

    Guidelines:

    Medication Use for the Risk Reduction of Primary Breast Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

    Editorial:

    Medications to Reduce Breast Cancer Risk: Promise and Limitations.

    Patient Page:

    Medications to Reduce Breast Cancer Risk.

    Audio Interview/CME: USPSTF Recommendation: Medication Use to Reduce Risk of Breast Cancer. (JN Learning)

    Review:

    USPSTF guideline: Offer risk-reducing drugs to women at increased risk for breast cancer and low risk for adverse effects.

    • Breast Cancer Screening in BRCA Mutation Carriers: Necessity of a Relevant Update of Mammographic Modalities.
    • Colin C, Doutriaux-Dumoulin I.
    • Radiology. 2019 Sep 3:191306. doi: 10.1148/radiol.2019191306. [Epub ahead of print]
    • Letter, Comment

    Related:

    Original research:

    BRCA Mutation Carriers: Breast and Ovarian Cancer Screening Guidelines and Imaging Considerations.

    • Health Care Provider Adherence to Surgical Guidelines for Risk-Reducing Salpingo-Oophorectomy.
    • Wilhite AM, Oestreich MC, Olson M, Bedell SM, Westenberg D, Bangdiwala A, Ikramuddin S, Sanchez-Avila M, Madoff RD, Khalifa MA, Erickson BK.
    • Obstet Gynecol. 2019 Sep;134(3):520-526. doi: 10.1097/AOG.0000000000003421.
    • Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants.
    • Walker M, Jacobson M, Sobel M.
    • CMAJ. 2019 Aug 12;191(32):E886-E893. doi: 10.1503/cmaj.190281.
    • Screening for Pancreatic Cancer.
    • Lucas AL, Kastrinos F.
    • JAMA. 2019 Aug 6;322(5):407-408. doi: 10.1001/jama.2019.9690.

    Related:

    Guidelines:

    Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement.

    Editorial:

    Screening for Pancreatic Cancer Gets a D, But the Student Is Improving.

    Editorial:

    Screening for Pancreatic Cancer-Is There Hope?

    • Combined hormonal contraceptives in BRCA gene mutation carriers: why not?
    • Grandi G, Sammarini M, Chiara Del Savio M, Toss A, Facchinetti F.
    • Eur J Contracept Reprod Health Care. 2019 Jul 30:1-3. doi: 10.1080/13625187.2019.1647335. [Epub ahead of print]
    • [Hereditary Breast and Ovarian Cancer Syndrome].
    • Inuzuka M, Nakamura S.
    • Gan To Kagaku Ryoho. 2019 Jul;46(7):1109-1113.
    • Review, [Article in Japanese]
    • Multi gene panel testing for hereditary breast cancer - is it ready to be used?
    • Catana A, Apostu AP, Antemie RG.
    • Med Pharm Rep. 2019 Jul;92(3):220-225. doi: 10.15386/mpr-1083. Epub 2019 Jul 31.
    • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
    • Lakeman IMM, Hilbers FS, Rodríguez-Girondo M, Lee A, Vreeswijk MPG, Hollestelle A, Seynaeve C, Meijers-Heijboer H, Oosterwijk JC, Hoogerbrugge N, Olah E, Vasen HFA, van Asperen CJ, Devilee P.
    • J Med Genet. 2019 Jun 11. pii: jmedgenet-2019-106072. doi: 10.1136/jmedgenet-2019-106072. [Epub ahead of print]
    • A young woman's story of genetic testing and risk-reducing mastectomy.
    • [No author given]
    • FORCE. XRAYS. 2019 Jun 6.

    Related:

    Narrative: I Had a Preventive Mastectomy—Then Found Out I Already Had Breast Cancer. (Health)

    • [Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.]
    • Koudová M, Puchmajerová A.
    • Klin Onkol. 2019 Summer;32(Supplementum2):14-23. doi: 10.14735/amko2019S14.
    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jun;45:29-35. doi: 10.1016/j.breast.2019.01.002. Epub 2019 Jan 8.
    • Review
    • Concurrent hysterectomy at the tine of risk-reducing surgery for patients with BRCA mutations.
    • Gordhandas S, Ruiz MP, Talukdar N, Holcomb KM, Freya MK, Chapman-Davis E, Kahn RM.
    • Gynecol Oncol. 2019 Jun;153(3):e12-e13. doi: 10.1016/j.ygyno.2019.03.134.
    • Conference abstract
    • Opportunistic Salpingectomy at the Time of Urogynecologic Surgery: Why, in Whom, and How?
    • Catanzarite T, Eskander RN.
    • Female Pelvic Med Reconstr Surg. 2019 May 22. doi: 10.1097/SPV.0000000000000741. [Epub ahead of print]
    • Review
    • Germline and Somatic Mutations in Prostate Cancer for the Clinician.
    • Cheng HH, Sokolova AO, Schaeffer EM, Small EJ, Higano CS.
    • J Natl Compr Canc Netw. 2019 May 1;17(5):515-521. doi: 10.6004/jnccn.2019.7307.
    • BRCA Mutation Carriers: Breast and Ovarian Cancer Screening Guidelines and Imaging Considerations.
    • Elezaby M, Lees B, Maturen KE, Barroilhet L, Wisinski KB, Schrager S, Wilke LG, Sadowski E.
    • Radiology. 2019 Apr 30:181814. doi: 10.1148/radiol.2019181814. [Epub ahead of print]

    Related:

    Letter, Comment:

    Breast Cancer Screening in BRCA Mutation Carriers: Necessity of a Relevant Update of Mammographic Modalities.

    • Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
    • Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.
    • J Med Genet. 2019 Apr 24. pii: jmedgenet-2018-105820. doi: 10.1136/jmedgenet-2018-105820. [Epub ahead of print]
    • Guidelines
    • What The Surgeons Should Know About The Bilateral Prophylactic Mastectomy in BRCA Mutation Carriers.
    • Franceschini G, Masetti R.
    • Eur J Breast Health. 2019 Apr 1;15(2):135-136. doi: 10.5152/ejbh.2019.4651. eCollection 2019 Apr.

    Related:

    Review:

    Risk-Reducing Options for Women with a Hereditary Breast Cancer Predisposition.

    • Genetic counselling of young women with breast cancer for Li-Fraumeni syndrome: a nationwide survey on the experiences and attitudes of genetics professionals.
    • Bakhuizen JJ, Velthuizen ME, Stehouwer S, Bleiker EM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):231-239. doi: 10.1007/s10689-018-0103-5.
    • Safety of hormone replacement therapy following risk-reducing salpingo-oophorectomy: systematic review of literature and guidelines.
    • Vermeulen RFM, Korse CM, Kenter GG, Brood-van Zanten MMA, Beurden MV.
    • Climacteric. 2019 Mar 25:1-9. doi: 10.1080/13697137.2019.1582622. [Epub ahead of print]
    • Review
    • Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.
    • Suarez-Kelly LP, Yu L, Kline D, Schneider EB, Agnese DM, Carson WE.
    • Hered Cancer Clin Pract. 2019 Mar 25;17:12. doi: 10.1186/s13053-019-0110-z. eCollection 2019.
    • A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer.
    • Forbes C, Fayter D, de Kock S, Quek RG.
    • Cancer Manag Res. 2019 Mar 22;11:2321-2337. doi: 10.2147/CMAR.S189627. eCollection 2019.
    • Trends in Breast MRI Use Among Women with BRCA Mutations: A National Claims Analysis 2006–2016.
    • Wernli KJ, Callaway KA, Henderson LM, Kerlikowske K, Lee JM, Ross-Degnan D, Wallace JK, Wharam JF, Zhang F, Stout NK.
    • Cancer Epidemiol Biomarkers Prev. 2019 Mar;28(3):624. doi: 10.1158/1055-9965.EPI-19-0079.
    • Conference abstract
    • Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom.
    • Autier P.
    • JAMA Oncol. 2019 Jan 17. doi: 10.1001/jamaoncol.2018.6501. [Epub ahead of print]
    • Letter, Comment

    Related:

    Letter, Reply:

    Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom-Reply.

    Original research:

    Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model.

    • 'Taking Back Control': The Growth in Prophylactic Mastectomy.
    • Davenport L.
    • Medscape. Medscape Oncology. 2019 Jan 10.

    Related:

    Press: 'We've Scared Women': The Growth of Prophylactic Mastectomy (Medscape Oncology)

  171. Related:

    Press: USPSTF Reaffirms Drugs for Women at High Risk for Breast Cancer. (Medscape Oncology)

    • Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know.
    • Franceschini G, Di Leone A, Terribile D, Sanchez MA, Masetti R.
    • Ann Ital Chir. 2019;90:1-2.
    • Review
    • [Additional non-contraceptive effects of contraception: CNGOF Contraception Guidelines].
    • Amat L, Bulach A, Leclercq M, Mesrine S, Scheffler F, Sperandeo D, Scheffler M.
    • Gynecol Obstet Fertil Senol. 2018 Dec;46(12):883-888. doi: 10.1016/j.gofs.2018.10.013. Epub 2018 Nov 7.
    • Review, [Article in French]
    • 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.
    • Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model.
    • Pashayan N, Morris S, Gilbert FJ, Pharoah PDP.
    • JAMA Oncol. 2018 Nov 1;4(11):1504-1510. doi: 10.1001/jamaoncol.2018.1901.

    Related:

    Editorial:

    Implementation Challenges for Risk-Stratified Screening in the Era of Precision Medicine.

    Audio Interview: Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Breast Cancer Screening. (JAMA Oncology)

    Press: Breast Cancer Screening Only for Women at Higher Risk. (Medscape)

    Letter, Comment:

    Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom

    Letter, Reply:

    Overestimation of the Benefit-to-Harm Ratio of Risk-Based Mammography Screening in the United Kingdom—Reply.

    • Cancer Risk-Reducing Opportunities in Gynecologic Surgery.
    • Piszczek C, Ma J, Gould CH, Tseng P.
    • J Minim Invasive Gynecol. 2018 Nov - Dec;25(7):1179-1193. doi: 10.1016/j.jmig.2017.10.025. Epub 2017 Oct 31.
    • Review
    • Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
    • Theobald KA, Susswein LR, Marshall ML, Roberts ME, Mester JL, Speyer D, Williams RNW, Knapke SC, Solomon SR, Murphy PD, Klein RT, Hruska KS, Solomon BD.
    • Ann Surg Oncol. 2018 Nov;25(12):3556-3562. doi: 10.1245/s10434-018-6581-8. Epub 2018 Aug 30.
    • Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    • Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.
    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
    • No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.
    • Jacobson M, Bernardini M, Sobel ML, Kim RH, McCuaig J, Allen L.
    • J Obstet Gynaecol Can. 2018 Nov;40(11):1497-1510. doi: 10.1016/j.jogc.2018.05.046.
    • Guidelines

    Related:

    [Article in French]:

    No 366 - Prise en charge gynécologique du cancer du sein et de l'ovaire héréditaire.

    • Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
    • Nielsen SM, Eccles DM, Romero IL, Al-Mulla F, Balmaña J, Biancolella M, Bslok R, Caligo MA, Calvello M, Capone GL, Cavalli P, Chan TLC, Claes KBM, Cortesi L, Couch FJ, de la Hoya M, De Toffol S, Diez O, Domchek SM, Eeles R, Efremidis A, Fostira F, Goldgar D, Hadjisavvas A, Hansen TVO, Hirasawa A, Houdayer C, Kleiblova P, Krieger S, Lázaro C, Loizidou M, Manoukian S, Mensenkamp AR, Moghadasi S, Monteiro AN, Mori L, Morrow A, Naldi N, Nielsen HR, Olopade OI, Pachter NS, Palmero EI, Pedersen IS, Piane M, Puzzo M, Robson M, Rossing M, Sini MC, Solano A, Soukupova J, Tedaldi G, Teixeira M, Thomassen M, Tibiletti MG, Toland A, Törngren T, Vaccari E, Varesco L, Vega A, Wallis Y, Wappenschmidt B, Weitzel J, Spurdle AB, De Nicolo A, Gómez-García EB.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.
    • Risk-Reducing Options for Women with a Hereditary Breast Cancer Predisposition.
    • Jatoi I.
    • Eur J Breast Health. 2018 Oct 1;14(4):189-193. doi: 10.5152/ejbh.2018.4324. eCollection 2018 Oct.

    Related:

    Letter, Review:

    What The Surgeons Should Know About The Bilateral Prophylactic Mastectomy in BRCA Mutation Carriers.

    • New Breast Cancer Screening Guidelines Build on Progress.
    • Larsen Haidle J.
    • NSGC blog, 2018 Oct 1.

    Related:

    Guidelines: NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian (PDF) (NCCN.org)

    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • The development of a template for psychological assessment of women considering risk-reducing or contralateral prophylactic mastectomy: A national Delphi consensus study.
    • Braude L, Kirsten L, Gilchrist J, Juraskova I.
    • Psychooncology. 2018 Oct;27(10):2349-2356. doi: 10.1002/pon.4830. Epub 2018 Sep 4.
    • Feasibility study of contralateral risk-reducing mastectomy with breast reconstruction for breast cancer patients with BRCA mutations in Japan.
    • Yoshimura A, Okumura S, Sawaki M, Hattori M, Ishiguro J, Adachi Y, Kotani H, Gondo N, Kataoka A, Iwase M, Onishi S, Sugino K, Terada M, Horisawa N, Mori M, Takaiso N, Hyodo I, Iwata H.
    • Breast Cancer. 2018 Sep;25(5):539-546. doi: 10.1007/s12282-018-0850-z. Epub 2018 Mar 8.
    • Surgery for BRCA, TP53 and PALB2: a literature review.
    • Song CV, Teo SH, Taib NA, Yip CH.
    • Ecancermedicalscience. 2018 Aug 29;12:863. doi: 10.3332/ecancer.2018.863. eCollection 2018.
    • Breast Cancer Genetics and Indications for Prophylactic Mastectomy.
    • Krontiras H, Farmer M, Whatley J.
    • Surg Clin North Am. 2018 Aug;98(4):677-685. doi: 10.1016/j.suc.2018.03.004. Epub 2018 May 30.
    • Review
    • The National Comprehensive Cancer Network (NCCN) Guidelines Have Been Updated: Here is What You Need to Know.
    • [No author given]
    • My Gene Counsel. 2018 Jul 23.

    Related:

    Guidelines: NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian (PDF) (NCCN.org)

    • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian
    • Daly MB, Pilarski R, Berry M, Buys SS, Friedman S, Garber JE, Hutton ML, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Madlensky L, Mac JS, Merajver SD, Offit K, Pal T, Peterson HJ, Reiser G, Shannon KM, Thaker P, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Darlow S.
    • NCCN.org. 2018 Jul 11. Version 1.2019.
    • 'We've Scared Women': The Growth of Prophylactic Mastectomy.
    • Davenport L.
    • Medscape. Medscape Oncology. 2018 Jul 3.

    Related:

    Press: 'Taking Back Control': The Growth in Prophylactic Mastectomy (Medscape Oncology)

    • Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations.
    • Kearton S, Wills K, Bunting M, Blomfield P, James PA, Burke J.
    • Fam Cancer. 2018 Jul;17(3):333-344. doi: 10.1007/s10689-017-0047-1.
    • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
    • Corso G, Figueiredo J, La Vecchia C, Veronesi P, Pravettoni G, Macis D, Karam R, Lo Gullo R, Provenzano E, Toesca A, Mazzocco K, Carneiro F, Seruca R, Melo S, Schmitt F, Roviello F, De Scalzi AM, Intra M, Feroce I, De Camilli E, Villardita MG, Trentin C, De Lorenzi F, Bonanni B, Galimberti V.
    • J Med Genet. 2018 Jul;55(7):431-441. doi: 10.1136/jmedgenet-2018-105337. Epub 2018 Jun 21.
    • Review
    • Geographic Variation in Postoperative Imaging for Low-Risk Breast Cancer.
    • Franc BL, Copeland TP, Thombley R, Park M, Marafino B, Dean ML, Boscardin WJ, Rugo HS, Seidenwurm D, Sharma B, Johnston SR, Dudley RA.
    • J Natl Compr Canc Netw. 2018 Jul;16(7):829-837. doi: 10.6004/jnccn.2018.7024.
    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
    • Mano R, Tamir S, Kedar I, Benjaminov O, Baniel J, Tabachnik T, Margel D.
    • JAMA Oncol. 2018 Jun 1;4(6):872-874. doi: 10.1001/jamaoncol.2018.0271.
    • Nipple-sparing mastectomy in women at high risk of developing breast cancer.
    • Lewis RS, George A, Rusby JE.
    • Gland Surg. 2018 Jun;7(3):325-336. doi: 10.21037/gs.2018.04.01.
    • Recommendations on prevention and screening for breast cancer in Hong Kong.
    • Lam TH, Wong KH, Chan KK, Chan MC, Chao DV, Cheung AN, Fan CY, Ho J, Hui EP, Lam KO, Law CK, Law WL, Loong HH, Ngan RK, Tsang TH, Wong MC, Yeung RM, Ying AC, Ching R.
    • Hong Kong Med J. 2018 Jun;24(3):298-306. doi: 10.12809/hkmj177037.
    • Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
    • Taylor A, Brady AF, Frayling IM, Hanson H, Tischkowitz M, Turnbull C, Side L; UK Cancer Genetics Group (UK-CGG).
    • J Med Genet. 2018 Jun;55(6):372-377. doi: 10.1136/jmedgenet-2017-105188. Epub 2018 Apr 16.
    • Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
    • Frost AS, Toaff M, Biagi T, Stark E, McHenry A, Kaltman R.
    • Obstet Gynecol. 2018 Jun;131(6):1103-1110. doi: 10.1097/AOG.0000000000002531.
    • Ovarian Cancer Prevention and Screening.
    • Menon U, Karpinskyj C, Gentry-Maharaj A.
    • Obstet Gynecol. 2018 May;131(5):909-927. doi: 10.1097/AOG.0000000000002580.
    • Review
    • [Recommendations for biomarker testing in epithelial ovarian cancer. A national consensus statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology].
    • Oaknin A, Guarch R, Barretina P, Hardisson D, González-Martín A, Matías-Guiu X, Pérez-Fidalgo A, Vieites B, Romero I, Palacios J.
    • Rev Esp Patol. 2018 Apr - Jun;51(2):84-96. doi: 10.1016/j.patol.2017.11.002. Epub 2018 Jan 17.
    • Consensus statement, Review, [Article in Spanish]
    • Cardiovascular Concerns in BRCA1 and BRCA2 Mutation Carriers.
    • Gast KC, Viscuse PV, Nowsheen S, Haddad TC, Mutter RW, Wahner Hendrickson AE, Couch FJ, Ruddy KJ.
    • Curr Treat Options Cardiovasc Med. 2018 Mar 1;20(2):18. doi: 10.1007/s11936-018-0609-z.
    • Review
    • Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement.
    • US Preventive Services Task Force, Grossman DC, Curry SJ, Owens DK, Barry MJ, Davidson KW, Doubeni CA, Epling JW Jr, Kemper AR, Krist AH, Kurth AE, Landefeld CS, Mangione CM, Phipps MG, Silverstein M, Simon MA, Tseng CW.
    • JAMA. 2018 Feb 13;319(6):588-594. doi: 10.1001/jama.2017.21926.

    Related:

    Evidence Report, Review:

    Screening for Ovarian Cancer: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force

    Editorial: Screening for Ovarian Cancer in Asymptomatic Women (JAMA)

    Editorial: The Yet Unrealized Promise of Ovarian Cancer Screening (JAMA Oncology)

    Editorial: Is There a Future for Ovarian Cancer Screening? (JAMA Internal Medicine)

    JAMA Patient Page: Screening for Ovarian Cancer (JAMA)

    Press: 'No' to Ovarian Cancer Screening: Harms Outweigh Benefits. (Medscape)

    • Screening for Ovarian Cancer: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
    • Henderson JT, Webber EM, Sawaya GF.
    • JAMA. 2018 Feb 13;319(6):595-606. doi: 10.1001/jama.2017.21421.

    Related:

    Recommendation Statement:

    Screening for Ovarian Cancer: US Preventive Services Task Force Recommendation Statement.

    Editorial: Screening for Ovarian Cancer in Asymptomatic Women (JAMA)

    Editorial: The Yet Unrealized Promise of Ovarian Cancer Screening (JAMA Oncology)

    Editorial: Is There a Future for Ovarian Cancer Screening? (JAMA Internal Medicine)

    JAMA Patient Page: Screening for Ovarian Cancer (JAMA)

    Press: 'No' to Ovarian Cancer Screening: Harms Outweigh Benefits. (Medscape)

    • Indications for Contralateral Prophylactic Mastectomy: A Consensus Statement Using Modified Delphi Methodology.
    • Wright FC, Look Hong NJ, Quan ML, Beyfuss K, Temple S, Covelli A, Baxter N, Gagliardi AR.
    • Ann Surg. 2018 Feb;267(2):271-279. doi: 10.1097/SLA.0000000000002309.
    • "I've just never gotten around to doing it": Men's approaches to managing BRCA-related cancer risks.
    • Rauscher EA, Dean M.
    • Patient Educ Couns. 2018 Feb;101(2):340-345. doi: 10.1016/j.pec.2017.07.015. Epub 2017 Jul 23.
    • Hereditary diffuse gastric cancer: One family's story.
    • Zylberberg HM, Sultan K, Rubin S.
    • World J Clin Cases. 2018 Jan 16;6(1):1-5. doi: 10.12998/wjcc.v6.i1.1.
    • Quality-of-life implications of risk-reducing cancer surgery.
    • Altman AM, Hui JYC, Tuttle TM.
    • Br J Surg. 2018 Jan;105(2):e121-e130. doi: 10.1002/bjs.10725.
    • Development of a high risk pancreatic screening clinic using 3.0 T MRI.
    • Barnes CA, Krzywda E, Lahiff S, McDowell D, Christians KK, Knechtges P, Tolat P, Hohenwalter M, Dua K, Khan AH, Evans DB, Geurts J, Tsai S.
    • Fam Cancer. 2018 Jan;17(1):101-111. doi: 10.1007/s10689-017-0057-z.

    Related:

    Editorial, Research Introduction: The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer. (Familial Cancer)

    • [Exclusive salpingectomy or prophylactic salpingo-oophorectomy? Critical analysis of the latest French guidelines].
    • Chene G, Lamblin G.
    • Gynecol Obstet Fertil Senol. 2018 Jan;46(1):1-3. doi: 10.1016/j.gofs.2017.10.013. Epub 2017 Dec 6.
    • Setting the Threshold for Surgical Prevention in Women at Increased Risk of Ovarian Cancer.
    • Manchanda R, Menon U.
    • Int J Gynecol Cancer. 2018 Jan;28(1):34-42. doi: 10.1097/IGC.0000000000001147.
    • Surveillance report 2018 – Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer (2013) NICE guideline CG164 [Internet].
    • NICE Surveillance programme project team: Nolan K, Allaby M, McFarlane E, Murray A.
    • London: National Institute for Health and Care Excellence (UK); 2018 Jan.

    • Considerations in Testing for Inherited Breast Cancer Predisposition in the Era of Personalized Medicine.
    • Powers B, Pal T, Laronga C.
    • Surg Oncol Clin N Am. 2018 Jan;27(1):1-22. doi: 10.1016/j.soc.2017.08.003.
    • Review
    • [Current German and American guidelines for autologous fat grafting - a transatlantic comparison].
    • Broelsch GF, Könneker S, Ipaktchi R, Vogt PM.
    • Handchir Mikrochir Plast Chir. 2017 Dec;49(6):408-414. doi: 10.1055/s-0043-118595. Epub 2017 Dec 29.
    • [Article in German]
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Clinical Management of Carriers of BRCA Pathogenic Variants. Available Clinical Practice Guidelines for Hereditary Breast and Ovarian Cancer.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Clinical implications of germline mutations in breast cancer: TP53.
    • Schon K, Tischkowitz M.
    • Breast Cancer Res Treat. 2017 Oct 16. doi: 10.1007/s10549-017-4531-y. [Epub ahead of print]
    • Impact of germline and somatic BRCA1/2 mutations: Tumor spectrum and detection platforms.
    • Wu H, Wu X, Liang Z.
    • Gene Ther. 2017 Oct;24(10):601-609. doi: 10.1038/gt.2017.73. Epub 2017 Aug 3.
    • Review
    • ACOG's Updated Breast and Ovarian Cancer Syndrome Guidance: What to Know.
    • Kaunitz AM.
    • Medscape. News & Perspective. 2017 Sep 26.
    • Final report of the Committee on Gynecologic Oncology, the Japan Society of Obstetrics and Gynecology, on a fact-finding questionnaire on the status of treatment of hereditary breast and ovarian cancer syndrome in Japan.
    • Satoh T, Takamatsu K, Takeshima N, Kobayashi H, Aoki D, Suzuki N.
    • J Obstet Gynaecol Res. 2017 Sep;43(9):1377-1380. doi: 10.1111/jog.13409. Epub 2017 Aug 17.
    • Committee Opinion No. 716: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.
    • Committee on Gynecologic Practice, Society of Gynecologic Oncology.
    • Obstet Gynecol. 2017 Sep;130(3):e146-e149. doi: 10.1097/AOG.0000000000002299.

    Related:

    Summary:

    Committee Opinion No. 716 Summary: The Role of the Obstetrician-Gynecologist in the Early Detection of Epithelial Ovarian Cancer in Women at Average Risk.

    • ['Healthy sick' or: How Genetic Risks Lever the Disease Concept of the Healthcare System].
    • Meier F, Ried J, Braun M, Dabrock P.
    • Gesundheitswesen. 2017 Aug;79(8-09):594-598. doi: 10.1055/s-0043-109862. Epub 2017 Jul 14.
    • English Abstract, [Article in German]
    • Practice Bulletin Number 179: Breast Cancer Risk Assessment and Screening in Average-Risk Women.
    • [No authors listed]
    • Obstet Gynecol. 2017 Jul;130(1):e1-e16. doi: 10.1097/AOG.0000000000002158.

    Related:

    Summary:

    Practice Bulletin No. 179 Summary: Breast Cancer Risk Assessment and Screening in Average-Risk Women.

    • No. 344-Opportunistic Salpingectomy and Other Methods of Risk Reduction for Ovarian/Fallopian Tube/Peritoneal Cancer in the General Population.
    • Salvador S, Scott S, Francis JA, Agrawal A, Giede C.
    • J Obstet Gynaecol Can. 2017 Jun;39(6):480-493. doi: 10.1016/j.jogc.2016.12.005.
    • Practice Guideline, Review

    Related:

    Practice Guideline, Review, [Article in French]:

    No 344-Salpingectomie opportuniste et autres méthodes pour réduire le risque de cancer de l'ovaire, de la trompe de Fallope et du péritoine dans la population générale.

    • No 344-Salpingectomie opportuniste et autres méthodes pour réduire le risque de cancer de l'ovaire, de la trompe de Fallope et du péritoine dans la population générale.
    • Salvador S, Scott S, Francis JA, Agrawal A, Giede C.
    • J Obstet Gynaecol Can. 2017 Jun;39(6):494-508. doi: 10.1016/j.jogc.2017.03.121.
    • Practice Guideline, Review, [Article in French]

    Related:

    Practice Guideline, Review, English Abstract:

    No. 344-Opportunistic Salpingectomy and Other Methods of Risk Reduction for Ovarian/Fallopian Tube/Peritoneal Cancer in the General Population.

    • Interventions to reduce the risk of ovarian and fallopian tube cancer: A European Menopause and Andropause Society Postition Statement.
    • Pérez-López FR, Ceausu I, Depypere H, Kehoe S, Lambrinoudaki I, Mueck A, Senturk LM, Simoncini T, Stevenson JC, Stute P, Rees M.
    • Maturitas. 2017 Jun;100:86-91. doi: 10.1016/j.maturitas.2017.03.003. Epub 2017 Mar 15.
    • The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition.
    • Afghahi A, Kurian AW.
    • Curr Treat Options Oncol. 2017 May;18(5):27. doi: 10.1007/s11864-017-0468-y.
    • Review
    • Addendum to Clinical Guideline 164, Familial breast cancer..
    • National Institute for Health and Care Excellence (UK) Standing Committee and NICE Teams.
    • National Institute for Health and Care Excellence (UK); 2017 Mar.
    • Multi-gene panel testing for hereditary cancer susceptibility in a rural Familial Cancer Program.
    • Hermel DJ, McKinnon WC, Wood ME, Greenblatt MS.
    • Fam Cancer. 2017 Jan;16(1):159-166. doi: 10.1007/s10689-016-9913-5.

    Related:

    Letter:

    Patients with negative multi-gene panel testing: a back to the future paradox?

    Letter:

    Placing negative multi-gene panel results into clinical context.

    • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.
    • Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, Garber JE, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Merajver SD, Offit K, Pal T, Reiser G, Shannon KM, Swisher E, Vinayak S, Voian NC, Weitzel JN, Wick MJ, Wiesner GL, Dwyer M, Darlow S.
    • J Natl Compr Canc Netw. 2017 Jan;15(1):9-20.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Always Handy

    NCCN Guidelines menu: Recent Updates to NCCN Clinical Practice Guidelines in Oncology (National Comprehensive Cancer Network)

    NCCN Guidelines (PDF): Genetic/Familial High-Risk Assessment: Breast and Ovarian - Version 2.2017 — December 7, 2016 (National Comprehensive Cancer Network)

    • Breast Cancer Epidemiology, Prevention, and Screening.
    • Winters S, Martin C, Murphy D, Shokar NK.
    • Prog Mol Biol Transl Sci. 2017;151:1-32. doi: 10.1016/bs.pmbts.2017.07.002. Epub 2017 Oct 10.
    • Review
    • Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care.
    • Graffeo R, Livraghi L, Pagani O, Goldhirsch A, Partridge AH, Garber JE.
    • Breast Cancer Res Treat. 2016 Dec;160(3):393-410. Epub 2016 Oct 12.
    • Review
    • Recommendations for breast imaging follow-up of women with a previous history of breast cancer: position paper from the Italian Group for Mammography Screening (GISMa) and the Italian College of Breast Radiologists (ICBR) by SIRM.
    • Bucchi L, Belli P, Benelli E, Bernardi D, Brancato B, Calabrese M, Carbonaro LA, Caumo F, Cavallo-Marincola B, Clauser P, Fedato C, Frigerio A, Galli V, Giordano L, Golinelli P, Mariscotti G, Martincich L, Montemezzi S, Morrone D, Naldoni C, Paduos A, Panizza P, Pediconi F, Querci F, Rizzo A, Saguatti G, Tagliafico A, Trimboli RM, Zuiani C, Sardanelli F.
    • Radiol Med. 2016 Dec;121(12):891-896. Epub 2016 Sep 6.
    • Providing Balance in ASCO Clinical Practice Guidelines: CYP2D6 Genotyping and Tamoxifen Efficacy.
    • Goetz MP, Ratain M, Ingle JN.
    • J Clin Oncol. 2016 Nov 10;34(32):3944-3945. doi: 10.1200/JCO.2016.68.5214.
    • Genetic testing and interpretive complexity: a BRCA1 gene mutation example.
    • Gogarty DS, Farrell MP, Gallagher DJ.
    • Ir J Med Sci. 2016 Nov;185(4):955-957. Epub 2014 Dec 13.
    • Case report, Review
    • Prevention and Screening in Hereditary Breast and Ovarian Cancer.
    • Zeichner SB, Stanislaw C, Meisel JL.
    • Oncology (Williston Park). 2016 Oct 15;30(10). pii: 219285.

    Related:

    Commentary:

    Clinical Hereditary Cancer Syndromes and Gene Panel Testing.

    • Contralateral Prophylactic Mastectomy (CPM) Consensus Statement from the American Society of Breast Surgeons: Data on CPM Outcomes and Risks.
    • Boughey JC, Attai DJ, Chen SL, Cody HS, Dietz JR, Feldman SM, Greenberg CC, Kass RB, Landercasper J, Lemaine V, MacNeill F, Song DH, Staley AC, Wilke LG, Willey SC, Yao KA, Margenthaler JA.
    • Ann Surg Oncol. 2016 Oct;23(10):3100-5. doi: 10.1245/s10434-016-5443-5. Epub 2016 Jul 28.

    Related:

    Clinical Guideline:

    Contralateral Prophylactic Mastectomy Consensus Statement from the American Society of Breast Surgeons: Additional Considerations and a Framework for Shared Decision Making.

    News: Contralateral Prophylactic Mastectomy Discouraged: ASBrS (Medscape Oncology)

    • Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer
    • ASBS Research committee
    • The American Society of Breast Surgeons. www.breastsurgeons.org. 2016 Sep 13.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG:

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    Subject: American Society of Breast Surgeons Consenus Guidelines on Genetic Testing

    • Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening.
    • Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ, Gilbert F, Senkus E; ESMO Guidelines Committee.
    • Ann Oncol. 2016 Sep;27(suppl 5):v103-v110.
    • An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.
    • Madorsky-Feldman D, Sklair-Levy M, Perri T, Laitman Y, Paluch-Shimon S, Schmutzler R, Rhiem K, Lester J, Karlan BY, Singer CF, Van Maerken T, Claes K, Brunet J, Izquierdo A, Teulé A, Lee JW, Kim SW, Arun B, Jakubowska A, Lubinski J, Tucker K, Poplawski NK, Varesco L, Bonelli LA, Buys SS, Mitchell G, Tischkowitz M, Gerdes AM, Seynaeve C, Robson M, Kwong A, Tung N, Tessa N, Domchek SM, Godwin AK, Rantala J, Arver B, Friedman E.
    • Breast Cancer Res Treat. 2016 Jun;157(2):319-27. doi: 10.1007/s10549-016-3805-0. Epub 2016 Apr 27.
    • Evolving Approaches in Research and Care for Ovarian Cancers: A Report From the National Academies of Sciences, Engineering, and Medicine.
    • Levine DA, Karlan BY, Strauss JF 3rd.
    • JAMA. 2016 May 10;315(18):1943-4. doi: 10.1001/jama.2016.2640.
    • The Problem of Mammographic Breast Density - The Position of the DEGUM Working Group on Breast Ultrasound.
    • Mueller-Schimpfle MP, Brandenbusch VC, Degenhardt F, Duda V, Madjar H, Mundinger A, Rathmann R, Hahn M.
    • Ultraschall Med. 2016 Apr;37(2):170-175. Epub 2016 Feb 16.
    • Review
    • Committee Opinion No. 659 Summary: The Use of Vaginal Estrogen in Women With a History of Estrogen-Dependent Breast Cancer.
    • [No authors listed]
    • Obstet Gynecol. 2016 Mar;127(3):618-9. doi: 10.1097/AOG.0000000000001349.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG:

    Subject: ACOG opinion Vaginal estrogen and women with ER pos breast ca

    • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
    • Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S.
    • J Natl Compr Canc Netw. 2016 Feb;14(2):153-62.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG:

    Subject: NCCN High-Risk Breast-Ovarian Guidelines 1.2016

    • SEOM clinical guidelines in Hereditary Breast and ovarian cancer.
    • Llort G, Chirivella I, Morales R, Serrano R, Sanchez AB, Teulé A, Lastra E, Brunet J, Balmaña J, Graña B; SEOM Hereditary Cancer Working Group.
    • Clin Transl Oncol. 2015 Dec;17(12):956-61. doi: 10.1007/s12094-015-1435-3. Epub 2015 Dec 15.
    • Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families.
    • Singer CF, Tea MK, Pristauz G, Hubalek M, Rappaport C, Riedl CC, Helbich TH.
    • Wien Klin Wochenschr. 2015 Dec;127(23-24):981-6. doi: 10.1007/s00508-015-0880-x. Epub 2015 Nov 2.
    • Chemoprevention for Breast Cancer.
    • Pruthi S, Heisey RE, Bevers TB.
    • Ann Surg Oncol. 2015 Oct;22(10):3230-5. doi: 10.1245/s10434-015-4715-9. Epub 2015 Jul 23.
    • Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.
    • Caiata-Zufferey M, Pagani O, Cina V, Membrez V, Taborelli M, Unger S, Murphy A, Monnerat C, Chappuis PO.
    • Genet Med. 2015 Sep 2;17(9):726-32. doi: 10.1038/gim.2014.183. Epub 2014 Dec 11.
    • BRCA2-associated pancreatic cancer and current screening guidelines.
    • Kasi PM, Pedersen KS, McWilliams RR.
    • Cancer. 2015 Sep 1;121(17):3046. doi: 10.1002/cncr.29447. Epub 2015 May 27.
    • Comment, Letter

    Related:

    Comment:

    Reply to BRCA2-associated pancreatic cancer and current screening guidelines.

    • Management of women at high risk of hereditary breast cancer in the Veneto Regional Program for Prevention.
    • Del Sole A, Cinquetti S, Fedato C, Montagna M, Russo F, Sbrogiò LG, Zorzi M.
    • Epidemiol Prev. 2015 Jul-Aug;39(4 Suppl 1):99-101.
    • AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2015.
    • Hanf V, Schütz F, Liedtke C, Thill M; AGO Breast Committee.
    • Breast Care (Basel). 2015 Jul;10(3):189-97. doi: 10.1159/000431346. Epub 2015 Jun 18.
    • Practice Guideline
    • Breast Cancer Risk Reduction, Version 2.2015.
    • Bevers TB, Ward JH, Arun BK, Colditz GA, Cowan KH, Daly MB, Garber JE, Gemignani ML, Gradishar WJ, Jordan JA, Korde LA, Kounalakis N, Krontiras H, Kumar S, Kurian A, Laronga C, Layman RM, Loftus LS, Mahoney MC, Merajver SD, Meszoely IM, Mortimer J, Newman L, Pritchard E, Pruthi S, Seewaldt V, Specht MC, Visvanathan K, Wallace A, Bergman MA, Kumar R.
    • J Natl Compr Canc Netw. 2015 Jul;13(7):880-915.
    • Practice guideline
    • Barriers to the Use of Breast Cancer Risk Reduction Therapies.
    • Bambhroliya A, Chavez-MacGregor M, Brewster AM.
    • J Natl Compr Canc Netw. 2015 Jul;13(7):927-35.
    • Clinical management of women at high risk of breast cancer.
    • Wuttke M, Phillips KA.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):6-13. doi: 10.1097/GCO.0000000000000140.
    • Review
    • Hereditary breast cancer syndromes and genetic testing.
    • Rich TA, Woodson AH, Litton J, Arun B.
    • J Surg Oncol. 2015 Jan;111(1):66-80. doi: 10.1002/jso.23791. Epub 2014 Nov 7.
    • Review
    • Committee opinion no. 620: salpingectomy for ovarian cancer prevention.
    • [No authors listed]
    • Obstet Gynecol. 2015 Jan;125(1):279-81. doi: 10.1097/01.AOG.0000459871.88564.09.
    • Hormonal and Surgical Treatment in Trans-Women with BRCA1 Mutations: A Controversial Topic.
    • Colebunders B, T'Sjoen G, Weyers S, Monstrey S.
    • J Sex Med. 2014 Oct;11(10):2496-9. doi: 10.1111/jsm.12628. Epub 2014 Jul 10.
    • Case report

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Cancer risks for transgender patient

    • Risk determination and prevention of breast cancer.
    • Howell A, Anderson AS, Clarke RB, Duffy SW, Evans DG, Garcia-Closas M, Gescher AJ, Key TJ, Saxton JM, Harvie MN.
    • Breast Cancer Res. 2014 Sep 28;16(5):446. doi: 10.1186/s13058-014-0446-2.
    • Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014.
    • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R.
    • J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.
    • Practice Guideline, NCCN Guidelines
    • AGO Recommendations for the Diagnosis and Treatment of Patients with Early Breast Cancer: Update 2014.
    • Liedtke C, Thill M, Hanf V, Schütz F; AGO Breast Committee.
    • Breast Care (Basel). 2014 Jul;9(3):189-200. doi: 10.1159/000363591.
    • Hereditary gynecologic cancers.
    • Mutch D, Denny L, Quinn M; FIGO Committee on Gynecologic Oncology.
    • Int J Gynaecol Obstet. 2014 Mar;124(3):189-92. doi: 10.1016/j.ijgo.2013.12.001. Epub 2013 Dec 21.
    • Practice Guideline
    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation.
    • Nelson HD, Pappas M, Zakher B, Mitchell JP, Okinaka-Hu L, Fu R.
    • Ann Intern Med. 2014 Feb 18;160(4):255-66.
    • Assessing the Genetic Risk for BRCA-Related Breast or Ovarian Cancer in Women: Recommendations From the U.S. Preventive Services Task Force.
    • [No authors listed]
    • Ann Intern Med. 2014 Feb 18;160(4). doi: 10.7326/P14-9008.

    Related:

    Systematic Review:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation.

    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement.
    • Moyer VA; U.S. Preventive Services Task Force.
    • Ann Intern Med. 2014 Feb 18;160(4):271-81.

    Related:

    Patient Education Handout:

    Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

    • Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
    • [No authors listed]
    • Ann Intern Med. 2014 Feb 18;160(4):I-16.

    Related:

    Practice Guideline:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement.

    • Risk management options elected by women after testing positive for a BRCA mutation.
    • Garcia C, Wendt J, Lyon L, Jones J, Littell RD, Armstrong MA, Raine-Bennett T, Powell CB.
    • Gynecol Oncol. 2014 Feb;132(2):428-33. doi: 10.1016/j.ygyno.2013.12.014. Epub 2013 Dec 16.
    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation [Internet].
    • Nelson HD, Fu R, Goddard K, Mitchell JP, Okinaka-Hu L, Pappas M, Zakher B (Editors).
    • Rockville (MD): Agency for Healthcare Research and Quality (US); 2013 Dec. Report No.: 12-05164-EF-1. U.S. Preventive Services Task Force Evidence Syntheses, formerly Systematic Evidence Reviews.
    • Books & Documents, Review

    Related:

    Practice Statement: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women (U.S. Preventive Services Task Force Recommendation Statement)

    • 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.
    • Medications for Risk Reduction of Primary Breast Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement.
    • [No author given]
    • U.S. Preventive Services Task Force (USPSTF). 2013 Sep 24.
    • Use of pharmacologic interventions for breast cancer risk reduction: american society of clinical oncology clinical practice guideline.
    • Visvanathan K, Hurley P, Bantug E, Brown P, Col NF, Cuzick J, Davidson NE, Decensi A, Fabian C, Ford L, Garber J, Katapodi M, Kramer B, Morrow M, Parker B, Runowicz C, Vogel VG 3rd, Wade JL, Lippman SM.
    • J Clin Oncol. 2013 Aug 10;31(23):2942-62. doi: 10.1200/JCO.2013.49.3122. Epub 2013 Jul 8.
    • Establishing a program for individuals at high risk for breast cancer.
    • Cadiz F, Kuerer HM, Puga J, Camacho J, Cunill E, Arun B.
    • J Cancer. 2013 Jul 1;4(5):433-46. doi: 10.7150/jca.6481. Print 2013.
    • Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk.
    • Tilanus-Linthorst MM, Lingsma HF, Evans DG, Thompson D, Kaas R, Manders P, van Asperen CJ, Adank M, Hooning MJ, Kwan Lim GE, Eeles R, Oosterwijk JC, Leach MO, Steyerberg EW.
    • Int J Cancer. 2013 Jul;133(1):156-63. doi: 10.1002/ijc.28014. Epub 2013 Feb 13.
    • NICE recommends preventive drugs for breast cancer.
    • Wise J.
    • BMJ. 2013 Jun 25;346:f4116. doi: 10.1136/bmj.f4116.
    • News
    • Drugs to be offered to women at high risk of breast cancer.
    • [No author given]
    • NHS. News. 2013 Jun 6.
    • Experience of Risk-reducing Salpingo-oophorectomy for a BRCA1 Mutation Carrier and Establishment of a System Performing a Preventive Surgery for Hereditary Breast and Ovarian Cancer Syndrome in Japan: Our Challenges for the Future.
    • Hirasawa A, Masuda K, Akahane T, Tsuruta T, Banno K, Makita K, Susumu N, Jinno H, Kitagawa Y, Sugano K, Kosaki K, Aoki D.
    • Jpn J Clin Oncol. 2013 May;43(5):515-9. doi: 10.1093/jjco/hyt036. Epub 2013 Mar 13.
    • NICE launches consultation on familial breast cancer guidelines.
    • Simon Leese.
    • PHG Foundation. 2013 Jan 15.
    • Which Risk Model to Use? Clinical Implications of the ACS MRI Screening Guidelines.
    • Ozanne EM, Drohan B, Bosinoff P, Semine A, Jellinek M, Cronin C, Millham F, Dowd D, Rourke T, Block C, Hughes KS.
    • Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):146-9. doi: 10.1158/1055-9965.EPI-12-0570. Epub 2012 Oct 23.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG:

    Subject: Breast cancer risk models

    Subject: Tyrer-Cuzick model

    Subject: Percent of women "high-risk" for breast cancer

    • Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement.
    • Moyer VA; U.S. Preventive Services Task Force.
    • Ann Intern Med. 2012 Dec 18;157(12):900-4. doi: 10.7326/0003-4819-157-11-201212040-00539.

    Related:

    Summary for patients:

    Summaries for patients. Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement.

    Study Synopsis and Perspective, CME: Who Should Be Screened for Ovarian Cancer? (Medscape Education Clinical Briefs)

    • 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.
    • [Guideline for the prevention and early detection of breast and ovarian cancer in high risk patients, particularly in women from HBOC (hereditary breast and ovarian cancer) families].
    • Singer CF, Tea MK, Pristauz G, Hubalek M, Rappaport C, Riedl C, Helbich T.
    • Wien Klin Wochenschr. 2012 May;124(9-10):334-9. doi: 10.1007/s00508-012-0173-6. Epub 2012 May 28.
    • [Article in German]