Management Beyond BRCA1/2
~ Genetics of Breast & Ovarian Cancer

Management of high risk for breast and/or ovarian cancer beyond that for BRCA1/2 mutations

List was last updated on Apr 17, 2021 @ 7:59 am.

    • "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.
    • Reyes KG, Clark C, Gerhart M, Newson AJ, Ormond KE.
    • Fam Cancer. 2021 Apr 15. doi: 10.1007/s10689-021-00251-3. 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.
    • Synchronous breast carcinoma and peritoneal mesothelioma.
    • Prathibha S, Beckwith H, Kratzke RA, Klein M, Kne A, Tuttle TM.
    • Breast J. 2021 Feb 23. doi: 10.1111/tbj.14202. Epub ahead of print.
    • Case report
    • Abnormal screens among nonmutation carriers in the High Risk Ontario Breast Screening Program.
    • Castelo M, Brown Z, Schellenberg AE, Mills JK, Eisen A, Muradali D, Grunfeld E, Scheer AS.
    • Breast J. 2021 Feb 7. doi: 10.1111/tbj.14185. Epub ahead of print.
    • 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.
    • Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers.
    • Eikenboom EL, van Doorn HC, Dinjens WNM, Dubbink HJ, Geurts-Giele WRR, Spaander MCW, Tops CMJ, Wagner A, Goverde A.
    • Cancers (Basel). 2021 Jan 26;13(3):E459. doi: 10.3390/cancers13030459.
    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report
    • Experiences, expectations and preferences regarding MRI and mammography as breast cancer screening tools in women at familial risk.
    • Geuzinge HA, Heijnsdijk EAM, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Breast. 2021 Jan 18;56:1-6. doi: 10.1016/j.breast.2021.01.002. Epub ahead of print.
    • Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
    • Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
    • Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.
    • Case report
    • American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline for Management of Hereditary Breast Cancer.
    • Yip CH, Newman LA.
    • JAMA Surg. 2021 Jan 13. doi: 10.1001/jamasurg.2020.6254. Epub ahead of print.
    • Guideline
    • 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.
    • Beyond BRCA: Cowden Syndrome (PTEN)
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Jan 6.
    • Genetic Testing Challenges in Oncology: Woman Without High Breast Cancer Risk Recommended Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Dec 22.
    • Hereditary ovarian tumour syndromes: current update on genetics and imaging.
    • Shanbhogue KP, Prasad AS, Ucisik-Keser FE, Katabathina VS, Morani AC.
    • Clin Radiol. 2020 Dec 19:S0009-9260(20)30605-X. doi: 10.1016/j.crad.2020.11.116. Epub ahead of print.
    • Review
    • Germline TP53 Testing in Breast Cancers: Why, When and How?
    • Evans DG, Woodward ER, Bajalica-Lagercrantz S, Oliveira C, Frebourg T.
    • Cancers (Basel). 2020 Dec 14;12(12):3762. doi: 10.3390/cancers12123762.
    • Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment.
    • Zeinomar N, Chung WK.
    • Ann Intern Med. 2020 Dec 1. doi: 10.7326/M20-5874. Epub ahead of print.
    • Commentary, Review
    • Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Dominguez-Valentin M, Crosbie EJ, [et al], Møller P.
    • Genet Med. 2020 Dec 1. doi: 10.1038/s41436-020-01029-1. Epub ahead of print.
    • Can we prevent ovarian cancer?
    • Aus AT.
    • Ceska Gynekol. 2020 Winter;85(1):49-58. English.
    • Review
    • 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.
    • Beyond the AJR: "Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk".
    • Lowry KP, Sippo DA.
    • AJR Am J Roentgenol. 2020 Nov 25. doi: 10.2214/AJR.20.25138. Epub ahead of print.
    • Commentary

    Original research:

    Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk.

    • Hereditary Diffuse Gastric Cancer: Approaches to Screening, Surveillance, and Treatment.
    • Pilonis ND, Tischkowitz M, Fitzgerald RC, di Pietro M.
    • Annu Rev Med. 2020 Nov 20. doi: 10.1146/annurev-med-051019-103216. Epub ahead of print.
    • Review
    • I am a PALB2 Previvor.
    • Dinschel A.
    • FORCE. Blog. 2020 Nov 19.
    • Finding Hope on the Other Side of Surgery After Learning of my ATM Mutation.
    • Townsend C.
    • FORCE. Blog. 2020 Nov 13.
    • An ATM Gene Mutation Caused My Breast Cancer
    • Cohen E.
    • FORCE. Blog. 2020 Nov 12.
    • Hereditary diffuse gastric cancer therapeutic roadmap: current and novel approaches in a nutshell.
    • El Rami FE, Barsoumian HB, Khneizer GW.
    • Ther Adv Med Oncol. 2020 Oct 31;12:1758835920967238. doi: 10.1177/1758835920967238.
    • Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Eiriksson L, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
    • Int J Gynecol Cancer. 2020 Oct 20:ijgc-2020-001927. doi: 10.1136/ijgc-2020-001927. Epub ahead of print.
    • ASO Author Reflections: Contralateral Prophylactic Mastectomy in Breast Cancer Patients with CHEK2 Gene Mutations.
    • Nizic-Kos T, Besic N.
    • Ann Surg Oncol. 2020 Oct 18. doi: 10.1245/s10434-020-09196-w. Epub ahead of print.
    • Commentary
    • 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. 2020 Sep 28. doi: 10.1007/s10689-020-00207-z. Epub ahead of print.
    • Significance of E-cadherin Gene Mutations in Patients With Hereditary Diffuse Gastric Cancer Syndrome: A Systematic Review.
    • Goud HK, Mehkari Z, Mohammed L, Javed M, Althwanay A, Ahsan F, Oliveri F, Rutkofsky IH.
    • Cureus. 2020 Sep 12;12(9):e10406. doi: 10.7759/cureus.10406.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
    • BMJ Case Rep. 2020 Sep 7;13(9):e236435. doi: 10.1136/bcr-2020-236435.
    • Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes.
    • Pietragalla A, Arcieri M, Marchetti C, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Sep 6:ijgc-2020-001556. doi: 10.1136/ijgc-2020-001556. Epub ahead of print.
    • Review
    • Ovarian cancer risk in Lynch syndrome: It’s time to individualize.
    • Ring KL.
    • BJOG. 2020 Sep 5. doi: 10.1111/1471-0528.16481. Epub ahead of print.

    Original research:

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

    • Hereditary breast cancer: translation into clinical practice of recent American Society of Clinical Oncology, American Society of Radiation Oncology, and Society of Surgical Oncology recommendations.
    • Corso G, Magnoni F.
    • Eur J Cancer Prev. 2020 Sep 3. doi: 10.1097/CEJ.0000000000000624. Epub ahead of print.
    • Review
    • Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk.
    • Geuzinge HA, Obdeijn IM, Rutgers EJT, Saadatmand S, Mann RM, Oosterwijk JC, Tollenaar RAEM, de Roy van Zuidewijn DBW, Lobbes MBI, van 't Riet M, Hooning MJ, Ausems MGEM, Loo CE, Wesseling J, Luiten EJT, Zonderland HM, Verhoef C, Heijnsdijk EAM, Tilanus-Linthorst MMA, de Koning HJ; Familial MRI Screening (FaMRIsc) Study group.
    • JAMA Oncol. 2020 Sep 1;6(9):1381-1389. doi: 10.1001/jamaoncol.2020.2922.


    Beyond the AJR: "Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk".

    • Report of a germline double heterozygote in MSH2 and PALB2.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Patsea E, Lypas G, Nasioulas G.
    • Mol Genet Genomic Med. 2020 Aug 27:e1242. doi: 10.1002/mgg3.1242. Epub ahead of print.
    • Screening women at high risk for breast cancer: one program fits all? : Subgroup analysis of a large population high risk breast screening program.
    • Hermann N, Klil-Drori A, Angarita FA, Westergard S, Freitas V, Scaranelo A, McCready DR, Cil TD.
    • Breast Cancer Res Treat. 2020 Aug 26. doi: 10.1007/s10549-020-05895-w. Epub ahead of print.
    • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
    • Chirita-Emandi A, Andreescu N, Popa C, Mihailescu A, Riza AL, Plesea R, Ioana M, Arghirescu S, Puiu M.
    • J Med Genet. 2020 Aug 25:jmedgenet-2020-107198. doi: 10.1136/jmedgenet-2020-107198. Epub ahead of print.
    • Case report
    • Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
    • Watson CH, Soo L, Davidson BA, Havrilesky LJ, Lee PS, McNally LJ, Previs RA, Secord AA, Berchuck A, Kauff ND.
    • Int J Gynecol Cancer. 2020 Aug 23:ijgc-2020-001536. doi: 10.1136/ijgc-2020-001536. Epub ahead of print.
    • BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.
    • Marchetti C, Minucci A, Pietragalla A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2020 Aug 4:ijgc-2020-001670. doi: 10.1136/ijgc-2020-001670. Epub ahead of print.


    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.

    • Management of women at increased risk for breast cancer secondary to high-risk proliferative lesions and family history of the disease.
    • Cen C, Chun J, Schnabel F.
    • Breast J. 2020 Aug 2. doi: 10.1111/tbj.13964. Online ahead of print.
    • Review
    • Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer.
    • Wood ME, McKinnon W, Garber J.
    • Breast J. 2020 Aug 2. doi: 10.1111/tbj.13969. Epub ahead of print.
    • Review
    • Evidence for Increased Susceptibility for Breast Cancer from Exposure to Ionizing Radiation Due to Familial Breast Cancer History: Results from the Swedish Hemangioma Cohort.
    • Eidemüller M, Holmberg E, Lundell M, Karlsson P.
    • Am J Epidemiol. 2020 Jul 31:kwaa163. doi: 10.1093/aje/kwaa163. Epub ahead of print.
    • Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
    • Murphy BL, Yi M, Arun BK, Gutierrez Barrera AM, Bedrosian I.
    • Ann Surg Oncol. 2020 Jul 27. doi: 10.1245/s10434-020-08889-6. Epub ahead of print.
    • Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.
    • Peleg Hasson S, Menes T, Sonnenblick A.
    • Pharmgenomics Pers Med. 2020 Jul 27;13:227-238. doi: 10.2147/PGPM.S233485.
    • Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer.
    • Caskey R, Singletary B, Ayre K, Parker C, Krontiras H, Lancaster RB.
    • J Surg Res. 2020 Jul 23;256:267-271. doi: 10.1016/j.jss.2020.06.029. 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):E2290. doi: 10.3390/jcm9072290.
    • Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
    • Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Angela Toss A.
    • J Oncol. 2020 Jul 14;2020:6384190. doi: 10.1155/2020/6384190.
    • Lifestyle Choices May Reduce Breast Cancer Risk Regardless of Genetics.
    • Otto MA.
    • Medscape. 2020 Jul 7.

    Original research:

    Association of Nongenetic Factors With Breast Cancer Risk in Genetically Predisposed Groups of Women in the UK Biobank Cohort.

    Research news: Lifestyle choices may reduce breast cancer risk regardless of genetics. (MDedge | Hematology & Oncology)

    • Dynamic contrast-enhanced magnetic resonance imaging for risk-stratified screening in women with BRCA mutations or high familial risk for breast cancer: are we there yet?
    • Whitaker KD, Sheth D, Olopade OI.
    • Breast Cancer Res Treat. 2020 Jul 3. doi: 10.1007/s10549-020-05759-3. Epub ahead of print.
    • Review
    • Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland.
    • Karwacki MW.
    • Contemp Oncol (Pozn). 2020;24(2):140-144. doi: 10.5114/wo.2020.97637. Epub 2020 Jul 3.
    • A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
    • Nguyen QD, Tavana A, Saenz Rios F, Posleman Monetto FE, Robinson AS.
    • Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
    • Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
    • Ray T.
    • Precision Oncology News. 2020 Jul 1.
    • 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.
    • Study: Promising research using a PARP inhibitor to treat metastatic breast cancer in people with an inherited PALB2 mutation or a tumor mutation in a gene that repairs DNA damage.
    • [No author given]
    • FORCE. XRAYS. 2020 Jun 18.

    Conference abstract:

    TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).

    • Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
    • Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B.
    • Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
    • "It wasn't just for me": Motivations and implications of genetic testing for women at a low risk of hereditary breast and ovarian cancer syndrome.
    • Gill G, Beard C, Storey K, Taylor S, Sexton A.
    • Psychooncology. 2020 Jun 4. doi: 10.1002/pon.5436. Epub ahead of print.
    • Double mutation of APC and BRCA1 in an Italian family.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Resse M, Passariello L, Cioffi M, Molinari AM.
    • Cancer Genet. 2020 Jun;244:32-35. doi: 10.1016/j.cancergen.2020.04.074. Epub 2020 Apr 28.
    • Case report
    • 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.
    • Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
    • Bharucha PP, Chiu KE, François FM, Scott JL, Khorjekar GR, Tirada NP.
    • Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
    • Review


    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?

    • Identifying Lynch Syndrome–Related Breast Cancers.
    • Sorscher S.
    • JCO Precis Oncol. 2020;4:579. doi: 10.1200/PO.20.00085. Epub 2020 May 27.


    Lynch Syndrome and Breast Cancer Risk: Weighing the Data.

    Original research:

    No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.

    • Utilization of Complementary Alternative Medicine, Diet, and Exercise Among Women at High Risk for Developing Breast Cancer.
    • Lee RT, Amico A, Malaka D, Lewin R, Cummings SA, Verp M, Patrick-Miller L, Bradbury AR, Olopade OI.
    • Integr Cancer Ther. 2020 Jan-Dec;19:1534735420922610. doi: 10.1177/1534735420922610. [First Published 2020 May 23.]
    • 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 May 21:S1879-8500(20)30099-0. doi: 10.1016/j.prro.2020.04.003. 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.

    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
    • Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Couch FJ.
    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.


    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report.
    • Grandi G, Caroli M, Alboni C, Cortesi L, Toss A, Barbieri E, Botticelli L, Facchinetti F.
    • Fam Cancer. 2020 Apr 24. doi: 10.1007/s10689-020-00179-0. [Epub ahead of print]
    • Case report
    • Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.
    • Konstantinopoulos PA, Norquist B, Lacchetti C, Armstrong D, Grisham RN, Goodfellow PJ, Kohn EC, Levine DA, Liu JF, Lu KH, Sparacio D, Annunziata CM.
    • J Clin Oncol. 2020 Apr 10;38(11):1222-1245. doi: 10.1200/JCO.19.02960. Epub 2020 Jan 27.


    BRCA status assessment in epithelial ovarian cancer and the challenge of tumor testing.

    • Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young?
    • Podwika SE, Jenkins TM, Khokhar JK, Erickson SH, Modesitt SC.
    • Gynecol Oncol Rep. 2020 Apr 7;32:100569. doi: 10.1016/j.gore.2020.100569. eCollection 2020 May.
    • Genetic Testing Challenges in Oncology: Patient With BRCA1 VUS Has Prophylactic Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Apr 6.
    • Comparison of mammography behaviors, health beliefs, and fear levels of women with and without familial breast cancer history.
    • Erdogan E, Tuzcu A.
    • Women Health. 2020 Apr 6:1-16. doi: 10.1080/03630242.2020.1746949. [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 Apr 3:JCO2000299. doi: 10.1200/JCO.20.00299. [Epub ahead of print]

    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.

    • Investigating the Link between Lynch Syndrome and Breast Cancer.
    • Sheehan M, Heald B, Yanda C, Kelly ED, Grobmyer S, Eng C, Kalady M, Pederson H.
    • Eur J Breast Health. 2020 Apr 1;16(2):106-109. doi: 10.5152/ejbh.2020.5198. eCollection 2020 Apr.
    • Association of Nongenetic Factors With Breast Cancer Risk in Genetically Predisposed Groups of Women in the UK Biobank Cohort.
    • Al Ajmi K, Lophatananon A, Mekli K, Ollier W, Muir KR.
    • JAMA Netw Open. 2020 Apr 1;3(4):e203760. doi: 10.1001/jamanetworkopen.2020.3760.
    • Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers.
    • Pelletier S, Larouche G, Chiquette J, El Haffaf Z, Foulkes WD, Hamet P, Simard J, Dorval M.
    • J Community Genet. 2020 Apr;11(2):205-213. doi: 10.1007/s12687-019-00438-3. Epub 2019 Oct 28.
    • ATM-Deficient Cancers Provide New Opportunities for Precision Oncology.
    • Jette NR, Kumar M, Radhamani S, Arthur G, Goutam S, Yip S, Kolinsky M, Williams GJ, Bose P, Lees-Miller SP.
    • Cancers (Basel). 2020 Mar 14;12(3). pii: E687. doi: 10.3390/cancers12030687.
    • Small Cell Carcinoma of the Ovary, Hypercalcaemic Type - genetics, new treatment targets and current management guidelines.
    • Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Wichter M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE.
    • Clin Cancer Res. 2020 Mar 10. pii: clincanres.3797.2019. doi: 10.1158/1078-0432.CCR-19-3797. [Epub ahead of print]
    • BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes.
    • Chung SH, Woldenberg N, Roth AR, Masamed R, Conlon W, Cohen JG, Joines MM, Patel MK.
    • Radiographics. 2020 Mar-Apr;40(2):306-325. doi: 10.1148/rg.2020190084. Epub 2020 Feb 7.
    • Review
    • Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
    • Breit C, Ablah E, Ward M, Okut H, Tenofsky PL.
    • Am J Surg. 2020 Mar;219(3):430-433. doi: 10.1016/j.amjsurg.2019.10.015. Epub 2019 Oct 11.

    Commentary, Presentation:

    Discussion on: Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.

    • Risk-reducing mastectomy in germline CDH1 mutation carriers: Pathologic findings.
    • Gianella CA, Bendito B, Iglesias C, Bengoechea MP, Miñón C, Ruiz A.
    • Breast J. 2020 Mar;26(3):583-584. doi: 10.1111/tbj.13604. Epub 2019 Sep 20.
    • Should all breast cancer patients get germline genetic testing?
    • Pal T, Domchek S, Graber C
    • Genetics in Medicine. GenePod. 2020 Mar.


    Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).


    Germline genetic testing for breast cancer: which patients? What genes?

    • Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
    • Achatz MI, Caleffi M, Guindalini R, Marques RM, Nogueira-Rodrigues A, Ashton-Prolla P.
    • JCO Glob Oncol. 2020 Mar;6:439-452. doi: 10.1200/JGO.19.00170.
    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
    • Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno JC, Cardenas-Goicoechea J.
    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad.
    • Kilbride MK, Bradbury AR.
    • JAMA. 2020 Feb 19. doi: 10.1001/jama.2019.22504. [Epub ahead of print]

    CME Audio, Interview: The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad. (JAMA Network: JN Learning)

    • Incidental Serous Tubal Intraepithelial Carcinoma that Developed into Primary Peritoneal Serous Carcinoma in a Patient without BRCA Mutation.
    • Chong GO, Park JY, Lee HJ.
    • Am J Case Rep. 2020 Feb 8;21:e921146. doi: 10.12659/AJCR.921146.
    • No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.
    • Stoll J, Rosenthal E, Cummings S, Willmott J, Bernhisel R, Kupfer SS.
    • JCO Precis Oncol. 2020;4:51. doi: 10.1200/PO.19.00271. Epub 2020 Feb 7.


    Lynch Syndrome and Breast Cancer Risk: Weighing the Data.

    • Factors that impact risk management decisions among women with pathogenic variants in moderate penetrance genes associated with hereditary breast cancer.
    • Napoli M, Lewis J, Hopper J, Widmeyer K.
    • J Genet Couns. 2020 Feb 3. doi: 10.1002/jgc4.1220. [Epub ahead of print]
    • Levonorgestrel-releasing intrauterine system and breast cancer risk: A systematic review and meta-analysis.
    • Conz L, Mota BS, Bahamondes L, Dória MT, Derchain SFM, Rieira R, Sarian LO.
    • Acta Obstet Gynecol Scand. 2020 Jan 28. doi: 10.1111/aogs.13817. [Epub ahead of print]
    • Review
    • 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 screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
    • Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T.
    • Cancer. 2020 Jan 22. doi: 10.1002/cncr.32715. [Epub ahead of print]
    • Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53.
    • Omran M, Blomqvist L, Brandberg Y, Pal N, Kogner P, Ståhlbom AK, Tham E, Bajalica-Lagercrantz S.
    • Hered Cancer Clin Pract. 2020 Jan 13;18:1. doi: 10.1186/s13053-020-0133-5. eCollection 2020.
    • Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer Who Are Genetic Carriers, Have a Strong Family History or Are just Young at Presentation.
    • Teoh V, Tasoulis MK, Gui G.
    • Cancers (Basel). 2020 Jan 6;12(1). pii: E140. doi: 10.3390/cancers12010140.
    • Predictors of contralateral prophylactic mastectomy in genetically high risk newly diagnosed breast cancer patients.
    • Tynan M, Peshkin BN, Isaacs C, Willey S, Valdimarsdottir HB, Nusbaum R, Hooker G, O'Neill SC, Jandorf L, Kelly SP, Heinzmann J, Kelleher S, Poggi E, Schwartz MD.
    • Breast Cancer Res Treat. 2020 Jan 1. doi: 10.1007/s10549-019-05515-2. [Epub ahead of print]
    • 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]
    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
    • Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M.
    • Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.
    • When Should Prophylactic Oophorectomy Be Recommended at the Time of Elective Hysterectomy?
    • Huber-Keener KJ, Pearlman MD.
    • Clin Obstet Gynecol. 2019 Dec 23. doi: 10.1097/GRF.0000000000000521. [Epub ahead of print]
    • Review
    • 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

    Practice Guidelines:

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

    • CDH1 (E-Cadherin) Mutation and Gastric Cancer: Genetics, Molecular Mechanisms and Guidelines for Management.
    • Shenoy S.
    • Cancer Manag Res. 2019 Dec 13;11:10477-10486. doi: 10.2147/CMAR.S208818. eCollection 2019.
    • Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
    • Pal T, Agnese D, Daly M, La Spada A, Litton J, Wick M, Klugman S, Esplin ED, Jarvik GP; Professional Practice and Guidelines Committee.
    • Genet Med. 2019 Dec 13. doi: 10.1038/s41436-019-0712-x. [Epub ahead of print]


    Germline genetic testing for breast cancer: which patients? What genes?

    Podcast: Should all breast cancer patients get germline genetic testing? (Genetics in Medicine. Genepod. 2020 Mar.)

    Press: Universal Genetic Testing in Breast Cancer May Result in More Harm Than Good, Experts Worry. (GenomeWeb)

    Press: ACMG Suggests Docs Evaluate All Breast Cancer Patients for Genetic Risk Test Suitability. (GenomeWeb)

    • Preventing Ovarian Cancer in High-risk Women: One Surgery at a Time.
    • Swanson CL, Bakkum-Gamez JN.
    • Clin Obstet Gynecol. 2019 Nov 22. doi: 10.1097/GRF.0000000000000499. [Epub ahead of print]
    • Review
    • Breast cancer prevention in high-risk women.
    • Thorat MA, Balasubramanian R.
    • Best Pract Res Clin Obstet Gynaecol. 2019 Nov 21. pii: S1521-6934(19)30170-1. doi: 10.1016/j.bpobgyn.2019.11.006. [Epub ahead of print]
    • Review
    • Risk-Adapted Starting Age of Screening for Relatives of Patients With Breast Cancer.
    • Mukama T, Kharazmi E, Xing X, Sundquist K, Sundquist J, Brenner H, Fallah M.
    • JAMA Oncol. 2019 Nov 14. doi: 10.1001/jamaoncol.2019.3876. [Epub ahead of print]


    Toward Risk-Stratified Breast Cancer Screening: Considerations for Changes in Screening Guidelines.


    Breast cancer screening programs: does one risk fit all?

    Letter, Comment:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer.

    Letter, Reply:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer-Reply.

    • [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]
    • Is prophylactic mastectomy justified in women without BRCA mutation?
    • Rutgers EJT.
    • Breast. 2019 Nov;48 Suppl 1:S62-S64. doi: 10.1016/S0960-9776(19)31126-9.
    • Rationale for evaluating breast cancers of Lynch syndrome patients for mismatch repair gene expression.
    • Sorscher S.
    • Breast Cancer Res Treat. 2019 Nov;178(2):469-471. doi: 10.1007/s10549-019-05394-7. Epub 2019 Aug 7.
    • Case report
    • 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.]
    • Outcomes of women at high familial risk for breast cancer: An 8-year single-center experience.
    • Lammert J, Skandarajah AR, Shackleton K, Calder P, Thomas S, Lindeman GJ, Mann GB.
    • Asia Pac J Clin Oncol. 2019 Oct 28. doi: 10.1111/ajco.13274. [Epub ahead of print]
    • Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.
    • Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A1, Harkness EF, Wolkenstein P, Peltonen J.
    • Genet Med. 2019 Sep 9. doi: 10.1038/s41436-019-0651-6. [Epub ahead of print]
    • 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.


    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.


    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)


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

    • An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Piccinin C, Panchal S, Watkins N, Kim RH.
    • Expert Rev Anticancer Ther. 2019 Aug 30. doi: 10.1080/14737140.2019.1659730. [Epub ahead of print]
    • Review
    • Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome.
    • McGarragle KM, Aronson M, Semotiuk K, Holter S, Hare CJ, Ferguson SE, Cohen Z, Hart TL.
    • Hered Cancer Clin Pract. 2019 Aug 13;17:24. doi: 10.1186/s13053-019-0123-7. eCollection 2019.
    • MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
    • Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van 't Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.


    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

    MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc).

    Research news: MRI or mammograms for detecting breast cancer in families with unknown genetic mutations? (FORCE. XRAYS.)

    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • Familial lobular breast cancer: Is testing for germline CDH1 mutations necessary?
    • Corso G, Sacchini V, Pravettoni G, Veronesi P, Bonanni B.
    • Eur J Surg Oncol. 2019 Jul 19. pii: S0748-7983(19)30578-5. doi: 10.1016/j.ejso.2019.07.020. [Epub ahead of print]
    • Willingness to decrease mammogram frequency among women at low risk for hereditary breast cancer.
    • Guan Y, Nehl E, Pencea I, Condit CM, Escoffery C, Bellcross CA, McBride CM.
    • Sci Rep. 2019 Jul 3;9(1):9599. doi: 10.1038/s41598-019-45967-6.
    • Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
    • Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI.
    • Eur J Cancer. 2019 Jun 15;116:199-206. doi: 10.1016/j.ejca.2019.05.005. [Epub ahead of print]
    • Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation.
    • Sarkadi B, Baghy K, Sápi Z, Nyirő G, Likó I, Patócs A.
    • Front Genet. 2019 Jun 11;10:544. doi: 10.3389/fgene.2019.00544. eCollection 2019.
    • [Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer.]
    • Foretová L, Navrátilová M, Svoboda M, Vašíčková P, Sťahlová EH, Házová J, Kleiblová P, Kleibl Z, Macháčková E, Palácová M, Petráková K.
    • Klin Onkol. 2019 Summer;32(Supplementum2):6-13. doi: 10.14735/amko2019S6.
    • NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.
    • Maani N, Westergard S, Yang J, Scaranelo AM, Telesca S, Thain E, Schachter NF, McCuaig JM, Kim RH.
    • Cancers (Basel). 2019 May 22;11(5). pii: E707. doi: 10.3390/cancers11050707.
    • Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.
    • Lima Pessoa E, Costa Vilella Dos Reis M, Sayuri Yamamoto T, Ribeiro Neto M, Ferraro O, Alves MJ, Guedes Coelho Lopes R.
    • Breast J. 2019 May 20. doi: 10.1111/tbj.13341. [Epub ahead of print]
    • Commentary
    • Breast cancer risk in BRCA1/2 mutation carriers and non-carriers under prospective intensified surveillance.
    • Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]
    • Performance of Screening Breast MRI across Women with Different Elevated Breast Cancer Risk Indications.
    • Sippo DA, Burk KS, Mercaldo SF, Rutledge GM, Edmonds C, Guan Z, Hughes KS, Lehman CD.
    • Radiology. 2019 May 7:181136. doi: 10.1148/radiol.2019181136. [Epub ahead of print]
    • Decisional conflict among breast cancer patients considering contralateral prophylactic mastectomy.
    • Manne S, Smith B, Mitarotondo A, Frederick S, Toppmeyer D, Kirstein L.
    • Patient Educ Couns. 2019 May;102(5):902-908. doi: 10.1016/j.pec.2018.12.008. Epub 2018 Dec 10.
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • "A natural progression" - Australian women's attitudes about an individualised breast screening model.
    • Lippey J, Keogh LA, Mann GB, Campbell IG, Forrest LE.
    • Cancer Prev Res (Phila). 2019 Apr 19. pii: canprevres.0443.2018. doi: 10.1158/1940-6207.CAPR-18-0443. [Epub ahead of print]
    • Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.
    • Mirandola S, Pellini F, Granuzzo E, Lorenzi M, Accordini B, Ulgelmo M, Invento A, Lombardi D, Caldana M, Pollini GP.
    • Int J Surg Case Rep. 2019 Apr 5;58:92-95. doi: 10.1016/j.ijscr.2019.03.053. [Epub ahead of print]
    • Evolving indications and long-term oncological outcomes of risk-reducing bilateral nipple-sparing mastectomy.
    • Grobmyer SR, Pederson HJ, Valente SA, Al-Hilli Z, Radford D, Djohan R, Yetman R, Eng C, Crowe JP.
    • BJS Open. 2018 Nov 26;3(2):169-173. doi: 10.1002/bjs5.50117. eCollection 2019 Apr.
    • Clinical implications of germline mutations in breast cancer genes: RECQL.
    • Bowden AR, Tischkowitz M.
    • Breast Cancer Res Treat. 2019 Apr;174(3):553-560. doi: 10.1007/s10549-018-05096-6. Epub 2019 Jan 4.
    • 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.
    • Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening.
    • Thompson J, Vogel Postula K, Wong K, Spencer S.
    • J Genet Couns. 2019 Mar 19. doi: 10.1002/jgc4.1118. [Epub ahead of print]
    • Performance of Screening Ultrasonography as an Adjunct to Screening Mammography in Women Across the Spectrum of Breast Cancer Risk.
    • Lee JM, Arao RF, Sprague BL, Kerlikowske K, Lehman CD, Smith RA, Henderson LM, Rauscher GH, Miglioretti DL.
    • JAMA Intern Med. 2019 Mar 18. doi: 10.1001/jamainternmed.2018.8372. [Epub ahead of print]
    • Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers.
    • Guindalini RSC, Zheng Y, Abe H, Whitaker K, Yoshimatsu TF, Walsh T, Schacht D, Kulkarni K, Sheth D, Verp MS, Bradbury AR, Churpek J, Obeid E, Mueller J, Khramtsova G, Liu F, Raoul A, Cao H, Romero IL, Hong S, Livingston R, Jaskowiak N, Wang X, Debiasi M, Pritchard CC, King MC, Karczmar G, Newstead GM, Huo D, Olopade OI.
    • Clin Cancer Res. 2019 Mar 15;25(6):1786-1794. doi: 10.1158/1078-0432.CCR-18-0200. Epub 2018 Aug 28.

    Review, Research news:

    More Is More: Semiannual Breast MRI Screening in BRCA1 Mutation Carriers.

    • E-cadherin-deficient cells have synthetic lethal vulnerabilities in plasma membrane organisation, dynamics and function.
    • Godwin TD, Kelly ST, Brew TP, Bougen-Zhukov NM, Single AB, Chen A, Stylianou CE, Harris LD, Currie SK, Telford BJ, Beetham HG, Evans GB, Black MA, Guilford PJ.
    • Gastric Cancer. 2019 Mar;22(2):273-286. doi: 10.1007/s10120-018-0859-1. Epub 2018 Jul 31.
    • Author response to "a response to 'personalised medicine and population health: breast and ovarian cancer'".
    • Narod SA.
    • Hum Genet. 2019 Mar;138(3):291-292. doi: 10.1007/s00439-019-01981-2. Epub 2019 Feb 21.
    • Letter, Reply

    Letter, Commentary:

    A response to "Personalised medicine and population health: breast and ovarian cancer".


    Personalised medicine and population health: breast and ovarian cancer.

    • The influence of BRCA variants of unknown significance on cancer risk management decision-making.
    • Chern JY, Lee SS, Frey MK, Lee J, Blank SV.
    • J Gynecol Oncol. 2019 Feb 27. doi: 10.3802/jgo.2019.30.e60. [Epub ahead of print]


    Clinical significance of variants of unknown significances in BRCA genes.

    • Trends in use of bilateral prophylactic mastectomy vs high-risk surveillance in unaffected carriers of inherited breast cancer syndromes in the Inherited Cancer Registry (ICARE).
    • Henry DA, Lee MC, Almanza D, Ahmed KA, Sun W, Boulware DC, Laronga C.
    • Breast Cancer Res Treat. 2019 Feb;174(1):39-45. doi: 10.1007/s10549-018-5057-7. Epub 2018 Nov 24.
    • Genetic variation and radiation quality impact cancer promoting cellular phenotypes in response to HZE exposure.
    • Sridharan DM, Enerio S, Wang C, LaBarge MA, Stampfer MR, Pluth JM.
    • Life Sci Space Res (Amst). 2019 Feb;20:101-112. doi: 10.1016/j.lssr.2018.10.002. Epub 2018 Oct 21.
    • Reframing the conversation about contralateral prophylactic mastectomy: Preparing women for postsurgical realities.
    • Bloom DL, Chapman BM, Wheeler SB, McGuire KP, Lee CN, Weinfurt K, Rosenstein DL, Plichta JK, Jacobson Vann JC, Hwang ES.
    • Psychooncology. 2019 Feb;28(2):394-400. doi: 10.1002/pon.4955. Epub 2018 Dec 28.
    • The Benefits and Blinders of Do-Goodism.
    • Resta R.
    • The DNA Exchange. 2019 Jan 20.
    • Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
    • Bush L, Aronson M, Tabori U, Campbell BB, Bedgood RB, Jasperson K.
    • Fam Cancer. 2019 Jan;18(1):105-108. doi: 10.1007/s10689-018-0088-0.
    • Family History of Breast Cancer Associated with Breast Cancer in Survivors of Hodgkin Lymphoma.
    • Colonna S, Curtin K, Johnson E, Kohlmann W, Wright J, Kirchhoff A, Tavtigian S, Schiffman J.
    • Int J Cancer Clin Res. 2019;6(1). pii: 107. doi: 10.23937/2378-3419/1410107. Epub 2019 Feb 25.
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018-. 2018 Dec 17.
    • CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.
    • Luo W, Fedda F, Lynch P, Tan D.
    • Front Pharmacol. 2018 Dec 5;9:1421. doi: 10.3389/fphar.2018.01421. eCollection 2018.
    • Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.
    • Narod SA.
    • JAMA Oncol. 2018 Dec 1;4(12):1787-1788. doi: 10.1001/jamaoncol.2018.4931.
    • Letter, Comment

    Original Research:

    Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

    Letter, reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer—Reply

    • 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.
    • Breast cancer screening in young women.
    • Desreux JAC.
    • Eur J Obstet Gynecol Reprod Biol. 2018 Nov;230:208-211. doi: 10.1016/j.ejogrb.2018.05.018. Epub 2018 May 24.
    • Review
    • 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

    [Article in French]:

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

    • A randomized controlled trial of a supportive expressive group intervention for women with a family history of breast cancer.
    • Esplen MJ, Leszcz M, Hunter J, Wong J, Leung YW, Toner B, Messner S, Glendon G, Stuckless N, Butler C.
    • Psychooncology. 2018 Nov;27(11):2645-2653. doi: 10.1002/pon.4822. Epub 2018 Jul 17.
    • [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]
    • Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
    • West AH, Blazer KR, Stoll J, Jones M, Weipert CM, Nielsen SM, Kupfer SS, Weitzel JN, Olopade OI.
    • Fam Cancer. 2018 Oct;17(4):495-505. doi: 10.1007/s10689-018-0070-x.
    • Personalised medicine and population health: breast and ovarian cancer.
    • Narod SA.
    • Hum Genet. 2018 Oct;137(10):769-778. doi: 10.1007/s00439-018-1944-6. Epub 2018 Oct 17.
    • Review

    Letter, Commentary:

    A response to "Personalised medicine and population health: breast and ovarian cancer".

    Letter, Reply:

    Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”.

    • 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 Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
    • Weiss A, Garber JE, King T.
    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Characteristics of Lynch syndrome associated ovarian cancer.
    • Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.
    • Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

    Letter, Commentary:

    Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.

    • 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.

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

    • 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.
    • 2018 Jul 11. Version 1.2019.
    • 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
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
    • Petelin L, Liew D, Mitchell G, James PA, Trainer AH.
    • Value Health. 2018 Jul;21(7):891-893. doi: 10.1016/j.jval.2018.02.009. Epub 2018 May 16.
    • Letter

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.


    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

    • 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.
    • Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
    • Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M5, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM.
    • Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.
    • 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.
    • Family History and Breast Cancer Risk Among Older Women in the Breast Cancer Surveillance Consortium Cohort.
    • Braithwaite D, Miglioretti DL, Zhu W, Demb J, Trentham-Dietz A, Sprague B, Tice JA, Onega T, Henderson LM, Buist DSM, Ziv E, Walter LC, Kerlikowske K; Breast Cancer Surveillance Consortium.
    • JAMA Intern Med. 2018 Apr 1;178(4):494-501. doi: 10.1001/jamainternmed.2017.8642.

    Research news:

    Older women with a family history of breast cancer face increased risk of the disease.

    • Prospective blinded surveillance screening of Swedish women with increased hereditary risk of breast cancer.
    • Liljegren A, von Wachenfeldt A, Azavedo E, Eloranta S, Grundström H, Ståhlbom AK, Sundbom A, Sundén P, Svane G, Ulitzsch D, Arver B.
    • Breast Cancer Res Treat. 2018 Apr;168(3):655-666. doi: 10.1007/s10549-017-4639-0. Epub 2018 Jan 9.
    • Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
    • Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d'Enghien CD, Stoppa-Lyonnet D, Leblanc T, Soulier J, Surrallés J.
    • Genet Med. 2018 Apr;20(4):458-463. doi: 10.1038/gim.2017.124. Epub 2017 Aug 24.
    • Case report
    • Functional genomics identifies specific vulnerabilities in PTEN-deficient breast cancer.
    • Tang YC, Ho SC, Tan E, Ng AWT, McPherson JR, Goh GYL, Teh BT, Bard F, Rozen SG.
    • Breast Cancer Res. 2018 Mar 22;20(1):22. doi: 10.1186/s13058-018-0949-3.
    • A2 Inherited mutations of PALB2 gene and breast cancer
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J, Polish Hereditary Breast Cancer Consortium.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A2. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: an NRG Oncology/Gynecologic Oncology Group Study.
    • Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes FJ, Mannel RS, Glaser G, Bailey C, Rubin SC, Soper JT, Lankes HA, Ramirez NC, King MC, Birrer MJ, Swisher EM.
    • Clin Cancer Res. 2018 Feb 15;24(4):777-783. doi: 10.1158/1078-0432.CCR-17-1327. Epub 2017 Nov 30.
    • Cancer Genetic Counseling and Testing: Perspectives of Epithelial Ovarian Cancer Patients and Gynecologic Oncology Healthcare Providers.
    • Liang MI, Wong DH, Walsh CS, Farias-Eisner R, Cohen JG.
    • J Genet Couns. 2018 Feb;27(1):177-186. doi: 10.1007/s10897-017-0135-2. Epub 2017 Aug 7.
    • 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.
    • 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.
    • Prophylaxis of hereditary breast cancer.
    • de Groot JS, van Diest PJ, Derksen PWB.
    • Aging (Albany NY). 2017 Dec 8;9(12):2453-2454. doi: 10.18632/aging.101342.
    • The use of panel testing in familial breast and ovarian cancer.
    • Prapa M, Solomons J, Tischkowitz M.
    • Clin Med (Lond). 2017 Dec;17(6):568-572. doi: 10.7861/clinmedicine.17-6-568.
    • No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation-positive families.
    • Guedaoura S, Pelletier S, Foulkes WD, Hamet P, Simard J, Wong N, El Haffaf Z, Chiquette J, Dorval M.
    • Curr Oncol. 2017 Dec;24(6):352-359. doi: 10.3747/co.24.3759. Epub 2017 Dec 20.
    • Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
    • Jones MR, Kamara D, Karlan BY, Pharoah PDP, Gayther SA.
    • Gynecol Oncol. 2017 Dec;147(3):705-713. doi: 10.1016/j.ygyno.2017.10.001. Epub 2017 Oct 18.
    • Review
    • Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
    • Frey JD, Salibian AA, Schnabel FR, Choi M, Karp NS.
    • Plast Reconstr Surg Glob Open. 2017 Nov 20;5(11):e1564. doi: 10.1097/GOX.0000000000001564. eCollection 2017 Nov.
    • Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis.
    • Phi XA, Houssami N, Hooning MJ, Riedl CC, Leach MO, Sardanelli F, Warner E, Trop I, Saadatmand S, Tilanus-Linthorst MMA, Helbich TH, van den Heuvel ER, de Koning HJ, Obdeijn IM, de Bock GH.
    • Eur J Cancer. 2017 Nov;85:31-38. doi: 10.1016/j.ejca.2017.07.055.
    • Meta-Analysis, Review
    • BRCA and lynch syndrome-associated ovarian cancers behave differently.
    • Ryan NAJ, Bolton J, McVey RJ, Evans DG, Crosbie EJ.
    • Gynecol Oncol Rep. 2017 Nov 22;22:108-109. doi: 10.1016/j.gore.2017.11.007. eCollection 2017 Nov.

    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.

    Letter: Ovarian carcinoma histotype in Lynch syndrome. (Gynecologic Oncology Reports)

    • Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.
    • Goldberg M, Bell K, Aronson M, Semotiuk K, Pond G, Gallinger S, Zbuk K.
    • J Med Genet. 2017 Nov;54(11):742-746. doi: 10.1136/jmedgenet-2017-104542. Epub 2017 Aug 4.
    • 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]
    • Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report.
    • Dursun D, Aktaş S, Altun Z, Olgun N.
    • Eur J Breast Health. 2017 Oct 1;13(4):213-215. doi: 10.5152/ejbh.2017.3105. eCollection 2017 Oct.
    • Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.
    • Pal T, Brzosowicz J, Valladares A, Wiesner GL, Laronga C.
    • South Med J. 2017 Oct;110(10):643-648. doi: 10.14423/SMJ.0000000000000711.
    • Contralateral Prophylactic Mastectomy.
    • Ramaswami R, Morrow M, Jagsi R.
    • N Engl J Med. 2017 Sep 28;377(13):1288-1291. doi: 10.1056/NEJMclde1708293.
    • The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.
    • Nepomuceno TC, De Gregoriis G, de Oliveira FMB, Suarez-Kurtz G, Monteiro AN, Carvalho MA.
    • Int J Mol Sci. 2017 Aug 31;18(9). pii: E1886. doi: 10.3390/ijms18091886.
    • Breast cancer risk and clinical implications for germline PTEN mutation carriers.
    • Ngeow J, Sesock K, Eng C.
    • Breast Cancer Res Treat. 2017 Aug;165(1):1-8. doi: 10.1007/s10549-015-3665-z. Epub 2015 Dec 23.
    • Review

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PTEN article request

    • Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions.
    • Dosani M, Schrader KA, Nichol A, Sun S, Shenkier T, Lohn Z, Aubertin G, Tyldesley S.
    • Cureus. 2017 Jul 11;9(7):e1458. doi: 10.7759/cureus.1458.
    • Outcomes of retesting BRCA negative patients using multigene panels.
    • Yadav S, Reeves A, Campian S, Paine A, Zakalik D.
    • Fam Cancer. 2017 Jul;16(3):319-328. doi: 10.1007/s10689-016-9956-7.
    • ATM mutations for surgeons.
    • Mansfield SA, Pilarski R, Agnese DM.
    • Fam Cancer. 2017 Jul;16(3):407-410. doi: 10.1007/s10689-016-9959-4.
    • Case report, Review
    • 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.


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

    • The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations.
    • Macklin S, Gass J, Mitri G, Atwal PS, Hines S.
    • Fam Cancer. 2017 Jun 22. doi: 10.1007/s10689-017-0007-9. [Epub ahead of print]
    • Review
    • MEN1-Dependent Breast Cancer: Indication for Early Screening? Results From the Dutch MEN1 Study Group.
    • van Leeuwaarde RS, Dreijerink KM, Ausems MG, Beijers HJ, Dekkers OM, de Herder WW, van der Horst-Schrivers AN, Drent ML, Bisschop PH, Havekes B, Peeters PHM, Pijnappel RM, Vriens MR, Valk GD.
    • J Clin Endocrinol Metab. 2017 Jun 1;102(6):2083-2090. doi: 10.1210/jc.2016-3690.
    • 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
    • Ovarian carcinoma histotype in Lynch syndrome.
    • Gilks CB, Clarke BA, Foulkes WD.
    • Gynecol Oncol Rep. 2017 Mar 16;20:140-141. doi: 10.1016/j.gore.2017.03.009. eCollection 2017 May.

    Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.


    BRCA and lynch syndrome-associated ovarian cancers behave differently.

    • Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature.
    • Nandikolla AG, Venugopal S, Anampa J.
    • Breast Cancer (Dove Med Press). 2017 Mar 23;9:207-215. doi: 10.2147/BCTT.S134241. eCollection 2017.
    • Screening with magnetic resonance imaging, mammography and ultrasound in women at average and intermediate risk of breast cancer.
    • Huzarski T, Górecka-Szyld B, Huzarska J, Psut-Muszyńska G, Wilk G, Sibilski R, Cybulski C, Kozak-Klonowska B, Siołek M, Kilar E, Czudowska D, Janiszewska H, Godlewski D, Mackiewicz A, Jarkiewicz-Tretyn J, Szabo-Moskal J, Gronwald J, Lubiński J, Narod SA; Polish Hereditary Breast Cancer Study Group.
    • Hered Cancer Clin Pract. 2017 Mar 1;15:4. doi: 10.1186/s13053-017-0064-y. eCollection 2017.
    • The risk of breast cancer due to PALB2 gene mutations.
    • Wesoła M, Jeleń M.
    • Adv Clin Exp Med. 2017 Mar-Apr;26(2):339-342. doi: 10.17219/acem/59147.
    • Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.
    • Ryan NA, Evans DG, Green K, Crosbie EJ.
    • Gynecol Oncol. 2017 Mar;144(3):491-495. doi: 10.1016/j.ygyno.2017.01.005. Epub 2017 Jan 6.

    Letter: Ovarian carcinoma histotype in Lynch syndrome. (Gynecologic Oncology Reports)


    BRCA and lynch syndrome-associated ovarian cancers behave differently.

    • Molecularly confirmed Li-Fraumeni-like syndrome in a patient with breast cancer and a low pre-test probability for harboring a germline CHEK2 truncation
    • Sorscher S
    • Integr Cancer Sci Ther. 2017 Feb;4(1). doi: 10.15761/ICST.1000224. Epub 2017 Feb 27.
    • Using Breast Cancer Risk Associated Polymorphisms to Identify Women for Breast Cancer Chemoprevention.
    • Ziv E, Tice JA, Sprague B, Vachon CM, Cummings SR, Kerlikowske K.
    • PLoS One. 2017 Jan 20;12(1):e0168601. doi: 10.1371/journal.pone.0168601. eCollection 2017.
    • The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
    • Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, Faivre L.
    • Oncotarget. 2017 Jan 10;8(2):1957-1971. doi: 10.18632/oncotarget.12699.
    • 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
    • Mammography and MRI for screening women who underwent chest radiation therapy (lymphoma survivors): recommendations for surveillance from the Italian College of Breast Radiologists by SIRM.
    • Mariscotti G, Belli P, Bernardi D, Brancato B, Calabrese M, Carbonaro LA, Cavallo-Marincola B, Caumo F, Clauser P, Martinchich L, Montemezzi S, Panizza P, Pediconi F, Tagliafico A, Trimboli RM, Zuiani C, Sardanelli F.
    • Radiol Med. 2016 Nov;121(11):834-837. Epub 2016 Jul 12.
    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Contralateral risk reducing mastectomy in Non-BRCA-Mutated patients.
    • Falco G, Rocco N, Bordoni D, Marano L, Accurso A, Buccelli C, Di Lorenzo P, Capasso E, Policino F, Niola M, Ferrari G.
    • Open Med (Wars). 2016 Aug 2;11(1):238-241. doi: 10.1515/med-2016-0047. eCollection 2016.
    • Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
    • van Os NJ, Roeleveld N, Weemaes CM, Jongmans MC, Janssens GO, Taylor AM, Hoogerbrugge N, Willemsen MA.
    • Clin Genet. 2016 Aug;90(2):105-17. doi: 10.1111/cge.12710. Epub 2016 Jan 20.
    • Review

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Ovarian cancer screening in menopausal females with a family history of breast or ovarian cancer.
    • Lai T, Kessel B, Ahn HJ, Terada KY.
    • J Gynecol Oncol. 2016 Jul;27(4):e41. doi: 10.3802/jgo.2016.27.e41. Epub 2016 Apr 6.
    • Transitioning to routine breast cancer risk assessment and management in primary care: what can we learn from cardiovascular disease?
    • Phillips KA, Steel EJ, Collins I, Emery J, Pirotta M, Mann GB, Butow P, Hopper JL, Trainer A, Moreton J, Antoniou AC, Cuzick J, Keogh L.
    • Aust J Prim Health. [2016 Jun;]22(3):255-61. doi: 10.1071/PY14156.
    • Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
    • Mills AM, Longacre TA.
    • Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.
    • Review
    • PALB2: research reaching to clinical outcomes for women with breast cancer.
    • Southey MC, Winship I, Nguyen-Dumont T.
    • Hered Cancer Clin Pract. 2016 Apr 19;14:9. doi: 10.1186/s13053-016-0049-2. eCollection 2016.
    • NCCN Adds New Gene Mutations to Consider in Women's Cancers.
    • Fran Lowry.
    • Medscape Medical News. Oncology. National Comprehensive Cancer Network (NCCN) 21st Annual Conference. 2016 Apr 4.
    • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
    • Mahon SM.
    • Oncol Nurs Forum. 2016 Jan 1;43(1):114-7. doi: 10.1188/16.ONF.114-117.
    • Review
    • [PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic].
    • Janatová M, Borecká M, Soukupová J, Kleiblová P, Stříbrná J, Vočka M, Zemánková P, Panczak A, Veselá K, Souček P, Foretová L, Kleibl Z.
    • Klin Onkol. 2015 Winter;29 Suppl 1:31-4.
    • Review, [Article in Czech]
    • Should women at high risk for cancer use oral contraceptive pills?
    • Moorman PG.
    • Per Med. 2015 Nov;12(6):533-535. doi: 10.2217/pme.15.36. Epub 2015 Nov 3.
    • Editorial
    • Familial risk for lifestyle-related chronic diseases: can family health history be used as a motivational tool to promote health behaviour in young adults?
    • Prichard I, Lee A, Hutchinson AD, Wilson C.
    • Health Promot J Austr. 2015 Aug;26(2):122-8.
    • Why Breast Cancer Risk by the Numbers Is Not Enough: Evaluation of a Decision Aid in Multi-Ethnic, Low-Numerate Women.
    • Kukafka R, Yi H, Xiao T, Thomas P, Aguirre A, Smalletz C, David R, Crew K.
    • J Med Internet Res. 2015 Jul 14;17(7):e165. doi: 10.2196/jmir.4028.
    • Genetic risk assessment for breast and gynecological malignancies.
    • Profato JL, Arun BK.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):1-5. doi: 10.1097/GCO.0000000000000142.
    • Review
    • PALB2 and the Risks for Cancer: Implications for Clinical Care.
    • Smith EC.
    • Oncol Nurs Forum. 2015 Jan 1;42(1):100-2. doi: 10.1188/15.ONF.100-102.
    • Review
    • [CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].
    • Adank MA, Hes FJ, van Zelst-Stams WA, van den Tol MP, Seynaeve C, Oosterwijk JC.
    • Ned Tijdschr Geneeskd. 2015;159:A8910.
    • Review, [Article in Dutch]
    • Breast Cancer Risk Associated With CHEK2 Mutations.
    • Mahon SM.
    • Oncol Nurs Forum. 2014 Nov 1;41(6):692-4. doi: 10.1188/14.ONF.692-694.
    • Lack of shared decision making in cancer screening discussions: results from a national survey.
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