Management Guidelines
~ Genetics of Breast & Ovarian Cancer

All manner of clinical practice guidelines for prevention of cancers, surveillance and early detection, and any other clinical management for persons at high risk of, but not diagnosed with cancer. Also includes any practice guidelines for the prevention or detection of new cancers in cancer patients and survivors.

Not just clinical guidelines themselves, but any papers dealing with any aspect of guidelines, such as assessments of their effectiveness, assessments of providers' adherence to guidelines, press reports announcing new guideline's release, and so forth.

List was last updated on Jan 16, 2020 @ 4:35 pm.


    • 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)

  42. 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.
    • 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]