• Factors Influencing Residual Glandular Breast Tissue after Risk-Reducing Mastectomy in Genetically Predisposed Individuals Detected by MRI Mammography.
    • Dietzel F, Kolberg L, Vesper AS, Hoffmann J, Nestle-Krämling C, Zwiefel K, Friebe V, Sawicki LM, Bruckmann NM, Jannusch K, Morawitz J, Antoch G, Fehm TN, Kirchner J, Mohrmann S.
    • Cancers (Basel). 2023 Jan 29;15(3):829. doi: 10.3390/cancers15030829.
    • Das hereditäre diffuse Magenkarzinom [Hereditary diffuse gastric cancer].
    • Knipper K, Fuchs HF, Alakus H, Bruns CJ, Schmidt T.
    • Chirurgie (Heidelb). 2023 Jan 26. German. doi: 10.1007/s00104-023-01806-z. Epub ahead of print.
    • Review. [Article in German]
    • Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
    • Vanderwal A, Lewis J, Basil J, Atzinger C, Widmeyer K.
    • J Genet Couns. 2023 Jan 15. doi: 10.1002/jgc4.1674. Epub ahead of print.
    • Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
    • Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ.
    • J Clin Oncol. 2023 Jan 9:JCO2201239. doi: 10.1200/JCO.22.01239. Epub ahead of print.
    • A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
    • Soleimani T, Bourdon C, Davis J, Fortes T.
    • Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.
    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
    • Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
    • Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C.
    • JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415.
    • Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience.
    • Cassani C, Rossi C, Camnasio CA, Urtis M, Fiandrino G, Grasso M, Zanellini F, Lucioni M, D’Ambrosio G, Di Toro A, Rossi M, Roccio M, Ferrari A, Secondino S, Nappi RE, Arbustini E, Paulli M, Spinillo A, Cesari S.
    • Diagnostics (Basel). 2022 Dec 6;12(12):3054. doi: 10.3390/diagnostics12123054.
    • Insurance Coverage of Prophylactic Mastectomies: A National Review of the United States.
    • Ha M, Ngaage LM, Finkelstein ER, Klein M, Yang A, Colohan SM, Nurudeen SM, Terhune JH, Slezak S, Rasko YM.
    • Clin Breast Cancer. 2022 Dec 5:S1526-8209(22)00269-5. doi: 10.1016/j.clbc.2022.12.001. Epub ahead of print.
    • The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code.
    • Møller P.
    • Hered Cancer Clin Pract. 2022 Nov 21;20(1):37. doi: 10.1186/s13053-022-00243-z.
    • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    • Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
    • J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
    • Feasibility Study and Clinical Impact of Incorporating Breast Tissue Density in High-Risk Breast Cancer Screening Assessment.
    • Rusnak A, Morrison S, Smith E, Hastings V, Anderson K, Aldridge C, Zelenietz S, Reddick K, Regnier S, Alie E, Islam N, Fasih R, Peddle S, Cordeiro E, Tomiak E, Seely JM.
    • Curr Oncol. 2022 Nov 15;29(11):8742-8750. doi: 10.3390/curroncol29110688.
    • Receipt of Bilateral Mastectomy Among Women With Hereditary Breast Cancer.
    • Reid S, Roberson ML, Koehler K, Shah T, Weidner A, Whisenant JG, Pal T.
    • JAMA Oncol. 2022 Nov 3. doi: 10.1001/jamaoncol.2022.5162. Epub ahead of print.
    • Use of Breast Cancer Risk Factors to Identify Risk-Adapted Starting Age of Screening in China.
    • Zheng Y, Dong X, Li J, Qin C, Xu Y, Wang F, Cao W, Xia C, Yu Y, Zhao L, Wu Z, Luo Z, Chen W, Li N, He J.
    • JAMA Netw Open. 2022 Nov 1;5(11):e2241441. doi: 10.1001/jamanetworkopen.2022.41441.

    •• Commentary:

    Risk-Based Approaches to Breast Cancer Screening in China.

    • Pancreatic Cancer Screening Appears Safe, Effective for High-Risk Patients.
    • Crist C.
    • Medscape Oncology. 2022 Oct 26.
    • PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
    • Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubinski J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK.
    • Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3.
    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.
    • Breast cancer incidence among women with a family history of breast cancer by relative's age at diagnosis.
    • Durham DD, Abraham LA, Roberts MC, Khan CP, Smith RA, Kerlikowske K, Miglioretti DL.
    • Cancer. 2022 Oct 19. doi: 10.1002/cncr.34365. Epub ahead of print.

    •• Commentary:

    What if the age at which a woman started regular mammographic screening depended on her risk, not age?

    •• Press release: Study finds earlier mammograms for women with family history of breast cancer may not be needed. (UC Davis Health | News)

    •• Research news: Earlier mammograms for women with family history of breast cancer may not be needed. (ScienceDaily)

    •• Research news: Earlier Mammograms Based on Family Breast Cancer History May Not Be Necessary. (Inside Precision Medicine)

    • How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?
    • Rashkin M, Kingham K, Lara-Otero K, Mckenna M, Villiers J, Worthington MM, Prince A.
    • J Genet Couns. 2022 Oct 19. doi: 10.1002/jgc4.1638. Epub ahead of print.
    • Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations.
    • Curtin C.
    • Precision Oncology News. 2022 Oct 17.
    • Research news
    • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
    • Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Management of ovarian and breast cancer risk in non-BRCA HBOC pathogenic variant carriers in a large California health care system.
    • Powell CB, Laurent C, Garcia C, Hoodfar E, Karlea A, Kobelka C, Lee J, Roh J, Kushi LH.
    • Gynecol Oncol. 2022 Oct 8:S0090-8258(22)01857-1. doi: 10.1016/j.ygyno.2022.10.001. Epub ahead of print.
    • Population genomic screening: Ethical considerations to guide age at implementation.
    • Spencer SJ, Fullerton SM.
    • Front Genet. 2022 Oct 4;13:899648. doi: 10.3389/fgene.2022.899648.
    • Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
    • Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
    • Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
    • Incidence of Occult Breast Cancer in Carriers of BRCA1/2 or Other High-Penetrance Pathogenic Variants Undergoing Prophylactic Mastectomy: When is Sentinel Lymph Node Biopsy Indicated?
    • Wong SM, Ferroum A, Apostolova C, Alhassan B, Prakash I, Basik M, Boileau JF, Meterissian S, Aleynikova O, Wong N, Foulkes WD.
    • Ann Surg Oncol. 2022 Oct;29(11):6660-6668. doi: 10.1245/s10434-022-11916-3. Epub 2022 May 26.
    • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
    • Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.
    • Guo Y, Wan Q, Ouyang T, Li J, Wang T, Fan Z, Xie Y.
    • Breast. 2022 Oct;65:55-60. doi: 10.1016/j.breast.2022.07.002. Epub 2022 Jul 7.
    • Use of breast surveillance between women with pathogenic variants and variants of uncertain significance in breast cancer susceptibility genes.
    • Makhnoon S, Chen M, Levin B, Ensinger M, Mattie KD, Grana G, Shete S, Arun BK, Peterson SK.
    • Cancer. 2022 Oct;128(20):3709-3717. doi: 10.1002/cncr.34429. Epub 2022 Aug 23.
    • Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes.
    • Comeaux JG, Culver JO, Lee JE, Dondanville D, McArthur HL, Quinn E, Gorman N, Ricker C, Li M, Lerman C.
    • Mol Genet Genomic Med. 2022 Oct;10(10):e2031. doi: 10.1002/mgg3.2031. Epub 2022 Aug 25.
    • Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
    • Shen K, Zhang M, Wang J, Mu W, Wang J, Wang C, Xing S, Hong Z, Xiao M.
    • Front Oncol. 2022 Sep 28;12:1036511. doi: 10.3389/fonc.2022.1036511.
    • Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.
    • Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group, Vos JR.
    • J Natl Cancer Inst. 2022 Sep 28:djac188. doi: 10.1093/jnci/djac188. Epub ahead of print.
    • Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy.
    • Ghose A, Bolina A, Mahajan I, Raza SA, Clarke M, Pal A, Sanchez E, Rallis KS, Boussios S.
    • Int J Environ Res Public Health. 2022 Sep 23;19(19):12057. doi: 10.3390/ijerph191912057.
    • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
    • Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
    • J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.

    Research news: Polygenic Risk Scores Could Refine Breast Cancer Screening Recommendations. (Precision Oncology News)

    • Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients.
    • Andrews M.
    • KHN [Kaiser Health News]. 2022 Sep 21.

    Press: Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients. (Medscape)

    • Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
    • Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL.
    • Clin Genet. 2022 Sep 12. doi: 10.1111/cge.14231. Epub ahead of print.
    • Case report
    • Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.
    • Lønning PE, Nikolaienko O, Pan K, Kurian AW, Eikesdal HP, Pettinger M, Anderson GL, Prentice RL, Chlebowski RT, Knappskog S.
    • JAMA Oncol. 2022 Sep 8. doi: 10.1001/jamaoncol.2022.3846. Epub ahead of print.
    • Prophylactic mastectomy and occult malignancy: Surgical and imaging considerations.
    • Thompson JL, Sinco BR, McCaffrey RL, Chang AE, Sabel MS, Dossett LA, Hughes TM, Jeruss JS.
    • J Surg Oncol. 2022 Sep 7. doi: 10.1002/jso.27088. Epub ahead of print.
    • Risk-reducing mastectomy for unaffected women with a strong family history of breast cancer.
    • Willson ML, Srinivasa S, Fatema K, Lostumbo L, Carbine NE, Egger SJ, Goodwin A.
    • Cochrane Database Syst Rev. 2022 Sep 6;9(9):CD015020. doi: 10.1002/14651858.CD015020.pub2.
    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
    • Speight B, Colvin E, Epurescu ED, Drummond J, Verhoef S, Pereira M, Evans DG, Tischkowitz M.
    • Hered Cancer Clin Pract. 2022 Sep 6;20(1):32. doi: 10.1186/s13053-022-00237-x.
    • Points to Consider Regarding Risk-Reducing Mastectomy in High-, Moderate-, and Low-Penetrance Gene Carriers.
    • Corso G, Robson ME, Sacchini V.
    • Ann Surg Oncol. 2022 Sep;29(9):5821-5825. doi: 10.1245/s10434-022-11913-6. Epub 2022 May 23.
    • Review, Commentary
    • Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines.
    • Bennett C, Suguitan M, Abad J, Chawla A.
    • Pancreatology. 2022 Sep;22(6):719-729. doi: 10.1016/j.pan.2022.05.005. Epub 2022 May 27.
    • Review
    • Genetic testing to guide screening for pancreatic ductal adenocarcinoma: Results of a microsimulation model.
    • Peters MLB, Eckel A, Lietz A, Seguin C, Mueller P, Hur C, Pandharipande PV.
    • Pancreatology. 2022 Sep;22(6):760-769. doi: 10.1016/j.pan.2022.05.003. Epub 2022 May 31.
    • Active Surveillance in Intermediate-Risk Prostate Cancer: A Review of the Current Data.
    • Blas L, Shiota M, Eto M.
    • Cancers (Basel). 2022 Aug 27;14(17):4161. doi: 10.3390/cancers14174161.
    • How do women who are informed that they are at increased risk of breast cancer appraise their risk? A systematic review of qualitative research.
    • Woof VG, Howell A, McWilliams L, Gareth Evans D, French DP.
    • Br J Cancer. 2022 Aug 24. doi: 10.1038/s41416-022-01944-x. Epub ahead of print.
    • Nijmegen Breakage Syndrome.
    • Varon R, Demuth I, Chrzanowska KH.
    • 1999 May 17 [updated 2022 Aug 18]. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.
    • Risk-reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system.
    • Knerr S, Guo B, Mittendorf KF, Feigelson HS, Gilmore MJ, Jarvik GP, Kauffman TL, Keast E, Lynch FL, Muessig KR, Okuyama S, Veenstra DL, Zepp JM, Goddard KAB, Devine B.
    • Cancer. 2022 Aug 15;128(16):3090-3098. doi: 10.1002/cncr.34349. Epub 2022 Jun 9.
    • What are the considerations in patient selection and timing of risk-reducing mastectomy?
    • Pederson HJ, Kurian AW, Al Hilli Z.
    • Cleve Clin J Med. 2022 Aug 1;89(8):442-444. doi: 10.3949/ccjm.89a.21114.
    • Does receiving high or low breast cancer risk estimates produce a reduction in subsequent breast cancer screening attendance? Cohort study.
    • French DP, McWilliams L, Howell A, Evans DG.
    • Breast. 2022 Aug;64:47-49. doi: 10.1016/j.breast.2022.05.001. Epub 2022 May 9.
    • Influence of germline test results on surgical decision making in women with invasive breast cancer.
    • Vargason AB, Turner CE, Shriver CD, Ellsworth RE.
    • Cancer Genet. 2022 Aug;266-267:81-85. doi: 10.1016/j.cancergen.2022.07.003. Epub 2022 Jul 13.
    • Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
    • Menko FH, Monkhorst K, Hogervorst FBL, Rosenberg EH, Adank M, Ruijs MWG, Bleiker EMA, Sonke GS, Russell NS, Oldenburg HSA, van der Kolk LE.
    • Crit Rev Oncol Hematol. 2022 Aug;176:103642. doi: 10.1016/j.critrevonc.2022.103642. Epub 2022 Mar 5.
    • Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
    • Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED.
    • Gynecol Oncol. 2022 Aug;166(2):344-350. doi: 10.1016/j.ygyno.2022.05.023. Epub 2022 Jun 9.
    • Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.
    • Gould D, Walker R, Makari-Judson G, Seven M.
    • J Community Genet. 2022 Aug;13(4):371-379. doi: 10.1007/s12687-022-00600-4. Epub 2022 Jul 12.
    • Factors Associated with Mammography Screening Choices by Women Aged 40-49 at Average Risk.
    • Guan Y, Haardörfer R, McBride CM, Lipscomb J, Escoffery C.
    • J Womens Health (Larchmt). 2022 Aug;31(8):1120-1126. doi: 10.1089/jwh.2021.0232. Epub 2022 Feb 15.
    • A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of 'moderate risk' genetic results in a population breast cancer screening trial.
    • James JE, Riddle L, Caruncho M, Koenig BA, Joseph G.
    • J Genet Couns. 2022 Jul 25. doi: 10.1002/jgc4.1617. Epub ahead of print.
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 19.
    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
    • Yoshimura A, Imoto I, Iwata H.
    • Int J Mol Sci. 2022 Jul 5;23(13):7481. doi: 10.3390/ijms23137481.
    • The impact of oophorectomy on survival from breast cancer in patients with CHEK2 mutations.
    • Tomiczek-Szwiec J, Szwiec M, Falco M, Cybulski C, Wokolorczyk D, Jakubowska A, Gronwald J, Stawicka M, Godlewski D, Kilar E, Marczyk E, Siolek M, Wisniowski R, Haus O, Sibilski R, Bodnar L, Sun P, Narod SA, Lubinski J, Huzarski T; Polish Breast Cancer Consortium.
    • Br J Cancer. 2022 Jul;127(1):84-91. doi: 10.1038/s41416-022-01770-1. Epub 2022 Mar 7.
    • The clinical features and management of Lynch syndrome-associated ovarian cancer.
    • Ran X, Jing H, Li Z.
    • J Obstet Gynaecol Res. 2022 Jul;48(7):1538-1545. doi: 10.1111/jog.15273. Epub 2022 Apr 27.
    • Review
    • EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
    • Lehrer S, Rheinstein PH.
    • Cancer Treat Res Commun. 2022 [2022 Jun 28];32:100595. doi: 10.1016/j.ctarc.2022.100595. Epub 2022 Jun 28.
    • Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.
    • Carlsson L, Thain E, Gillies B, Metcalfe K.
    • Hered Cancer Clin Pract. 2022 Jun 22;20(1):25. doi: 10.1186/s13053-022-00229-x.
    • Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
    • Gerber VKQ, Paraizo MM, Ibañez HC, Casali-da-Rocha JC, Pinto EM, Andrade DP, Ibañez MVC, Komechen H, Figueiredo MMO, Custódio G, Fiori CMCM, Balbinotti JHG, Nardin JM, Almeida TA, Beltrame OO, Yamada PA, de Fraga GS, de Brito LL, Martins J, Melanda VS, Licht OAB, Teixeira VZ, Pinho SKS, Bottini S, Lalli E, Zambetti GP, Figueiredo BC.
    • Cancers (Basel). 2022 Jun 19;14(12):3014. doi: 10.3390/cancers14123014.
    • The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.
    • Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N.
    • Cancer. 2022 Jun 1. doi: 10.1002/cncr.34326. Epub ahead of print
    • Cancer genetics and breast cancer.
    • Huber-Keener KJ.
    • Best Pract Res Clin Obstet Gynaecol. 2022 Jun;82:3-11. doi: 10.1016/j.bpobgyn.2022.01.007. Epub 2022 Jan 31.
    • Review
    • Helping Patients Understand and Cope with BRCA Mutations.
    • Makhnoon S, Arun B, Bedrosian I.
    • Curr Oncol Rep. 2022 Jun;24(6):733-740. doi: 10.1007/s11912-022-01254-8. Epub 2022 Mar 18.
    • Medical knowledge and information needs among women with pathogenic variants in moderate-risk genes for hereditary breast cancer attending genetic counseling at an academic hospital in Germany-A qualitative approach.
    • Stracke C, Lemmen C, Rhiem K, Schmutzler R, Kautz-Freimuth S, Stock S.
    • J Genet Couns. 2022 Jun;31(3):698-712. doi: 10.1002/jgc4.1536. Epub 2021 Nov 26.
    • Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.
    • Archer S, Fennell N, Colvin E, Laquindanum R, Mills M, Dennis R, Stutzin Donoso F, Gold R, Fan A, Downes K, Ford J, Antoniou AC, Kurian AW, Evans DG, Tischkowitz M.
    • Cancers (Basel). 2022 May 31;14(11):2716. doi: 10.3390/cancers14112716.
    • Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
    • Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, Gaonkar S, Vaccari E, Kane S, Michalski ST, Yang S, Nielsen SM, Bristow SL, Lincoln SE, Nussbaum RL, Esplin ED.
    • Cancers (Basel). 2022 May 13;14(10):2426. doi: 10.3390/cancers14102426.
    • Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study.
    • Barnard ME, Meeks H, Jarboe EA, Albro J, Camp NJ, Doherty JA.
    • J Med Genet. 2022 May 9:jmedgenet-2021-108402. doi: 10.1136/jmedgenet-2021-108402. Epub ahead of print.
    • Allelica, Invitae Partner to Build Ancestry-Informed Polygenic Risk Score for Breast Cancer.
    • [No author given]
    • GenomeWeb. Diagnostics. Molecular Diagnostics. 2022 May 3.
    • Invitae, Allelica to Develop Breast Cancer Polygenic Risk Score.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 May 3.
    • Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review.
    • Lim N, Hickey M, Young GP, Macrae FA, Kelly C.
    • Int J Gynecol Cancer. 2022 May 3;32(5):646-655. doi: 10.1136/ijgc-2021-003132.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2022 May 1;31(3):274-278. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Assessing Breast Cancer Risks to Improve Care for an Increased-Risk Population within Eastern North Carolina.
    • Shelton CH, Bowen C, Guenther WC, Jordan B, Boehmer LM, Weldon CB, Trosman JR, Ruiz A.
    • N C Med J. 2022 May-Jun;83(3):221-228. doi: 10.18043/ncm.83.3.221.
    • Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report.
    • Bogomilova Kamburova Z, Lubenova Popovska S, Stefanova Kovacheva K, Todorov Petrov K, Enkova Nikolova S.
    • Biomed Rep. 2022 May;16(5):39. doi: 10.3892/br.2022.1522. Epub 2022 Mar 14.
    • ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations.
    • Sawhney MS, Calderwood AH, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Qumseya BJ; Prepared by: ASGE STANDARDS OF PRACTICE COMMITTEE.
    • Gastrointest Endosc. 2022 May;95(5):817-826. doi: 10.1016/j.gie.2021.12.001. Epub 2022 Feb 16.


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

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

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

    • Hereditary breast cancer and fertility preservation outcomes.
    • Arab S, Tulandi T, Buckett W.
    • J Assist Reprod Genet. 2022 May;39(5):1163-1168. doi: 10.1007/s10815-022-02486-0. Epub 2022 Apr 11.
    • Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body.
    • Werner-Lin A, Forbes Shepherd R, Young JL, Wilsnack C, Merrill SL, Greene MH, Khincha PP.
    • Soc Sci Med. 2022 May;301:114905. doi: 10.1016/j.socscimed.2022.114905. Epub 2022 Mar 17.
    • Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.
    • Lowry KP, Geuzinge HA, Stout NK, Alagoz O, Hampton J, Kerlikowske K, de Koning HJ, Miglioretti DL, van Ravesteyn NT, Schechter C, Sprague BL, Tosteson ANA, Trentham-Dietz A, Weaver D, Yaffe MJ, Yeh JM, Couch FJ, Hu C, Kraft P, Polley EC, Mandelblatt JS, Kurian AW, Robson ME; Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET), in collaboration with the Breast Cancer Surveillance Consortium (BCSC), and the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium.
    • JAMA Oncol. 2022 Apr 1;8(4):587-596. doi: 10.1001/jamaoncol.2021.6204.

    Research news: Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants. (Inside Precision Medicine)

    Research news: MRI Could Reduce Breast Cancer Deaths in Women at High Risk. (Medscape)

    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK.
    • Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.
    • Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.
    • Saghatchian M, Abehsera M, Yamgnane A, Geyl C, Gauthier E, Hélin V, Bazire M, Villoing-Gaudé L, Reyes C, Gentien D, Golmard L, Stoppa-Lyonnet D.
    • Breast Cancer Res Treat. 2022 Apr;192(2):375-383. doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 7.
    • Effective Surveillance of High-Risk Women.
    • Lotz M, Ghebremichael M, Chervinsky K, Zorc T, Brenner C, Bousvaros G, Pories SE.
    • Clin Breast Cancer. 2022 Apr;22(3):e263-e269. doi: 10.1016/j.clbc.2021.07.014. Epub 2021 Jul 27.
    • "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. 2022 Apr;21(2):143-155. doi: 10.1007/s10689-021-00251-3. Epub 2021 Apr 15.
    • First international workshop of the ATM and cancer risk group (4-5 December 2019).
    • Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N.
    • Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14.
    • Conference report
    • The psychological impact and experience of breast cancer screening in young women with an increased risk of breast cancer due to neurofibromatosis type 1.
    • Crook A, Kwa R, Ephraums S, Wilding M, Thiyagarajan L, Fleming J, Moore K, Berman Y.
    • Fam Cancer. 2022 Apr;21(2):241-253. doi: 10.1007/s10689-021-00259-9. Epub 2021 May 8.
    • "It was a no-brainer": A qualitative study of factors driving previvors' decision-making when considering risk-reducing salpingectomy with delayed oophorectomy.
    • Gellman C, Ezratty C, Schwarz J, Kolev V, Blank SV.
    • Gynecol Oncol Rep. 2022 Feb 26 [eCollection 2022 Apr];40:100948. doi: 10.1016/j.gore.2022.100948.
    • Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.
    • Treese C, Siegmund B, Daum S.
    • Curr Oncol. 2022 Mar 30;29(4):2454-2460. doi: 10.3390/curroncol29040199.
    • The Breast Cancer Screening and Timing of Breast MRI-Experience in a Genetic High-Risk Screening Clinic in a Comprehensive Cancer Center.
    • Wang X, Chang MD, Lee MC, Niell BL.
    • Curr Oncol. 2022 Mar 19;29(3):2119-2131. doi: 10.3390/curroncol29030171.
    • Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
    • Beck SH, Jelsig AM, Yassin HM, Lindberg LJ, Wadt KAW, Karstensen JG.
    • Fam Cancer. 2022 Mar 16. doi: 10.1007/s10689-022-00291-3. Epub ahead of print.
    • Review
    • Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
    • Sandoval RL, Polidorio N, Leite ACR, Cartaxo M, Pisani JP, Quirino CV, Cezana L, Pereira NG, Pereira AAL, Rossi BM, Achatz MI.
    • Front Oncol. 2022 Mar 16;12:836937. doi: 10.3389/fonc.2022.836937.
    • "You Always Have It in the Back of Your Mind"-Feelings, Coping, and Support Needs of Women with Pathogenic Variants in Moderate-Risk Genes for Hereditary Breast Cancer Attending Genetic Counseling in Germany: A Qualitative Interview Study.
    • Stracke C, Lemmen C, Rhiem K, Schmutzler R, Kautz-Freimuth S, Stock S.
    • Int J Environ Res Public Health. 2022 Mar 16;19(6):3525. doi: 10.3390/ijerph19063525.
    • Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
    • Sassi H, Meddeb R, Cherif MA, Nasr C, Riahi A, Hannachi S, Belguith N, M'rad R.
    • BMC Med Genomics. 2022 Mar 4;15(1):44. doi: 10.1186/s12920-022-01189-w.
    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky JS, Kurian AW.
    • JNCI Cancer Spectr. 2022 Mar 2;6(2):pkac002. doi: 10.1093/jncics/pkac002.
    • Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
    • Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D.
    • Am J Med Genet A. 2022 Mar;188(3):911-918. doi: 10.1002/ajmg.a.62575. Epub 2021 Nov 19.
    • Case report
    • Surgery and prophylactic surgery in hereditary breast cancer.
    • Morrow M.
    • Breast. 2022 Mar;62 Suppl 1:S63-S66. doi: 10.1016/j.breast.2021.12.010. Epub 2021 Dec 13.
    • Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
    • Liu YL, Breen K, Catchings A, Ranganathan M, Latham A, Goldfrank DJ, Grisham RN, Long Roche K, Frey MK, Chi DS, Abu-Rustum N, Aghajanian C, Offit K, Stadler ZK.
    • JCO Oncol Pract. 2022 Mar;18(3):201-209. doi: 10.1200/OP.21.00382. Epub 2021 Sep 28.


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

    • Lapses in breast cancer screening for highly penetrant mutation carriers during pregnancy and lactation.
    • Chichura A, Hunt J, Lang J, Pederson H.
    • J Surg Oncol. 2022 Mar;125(4):589-595. doi: 10.1002/jso.26761. Epub 2021 Dec 2.
    • Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Feb 23.

    Original research:

    Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

    • Genetic Testing Challenges in Oncology: Muddled Reporting, Interpretation of PALB2 VUS.
    • Ray T.
    • Precision Oncology News. Cancer Specialties. 2022 Feb 23.
    • Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
    • Bandini E, Cangini I, Arcangeli V, Ravegnani M, Andreotti V, Prisinzano G, Pastorino L, Martinelli G, Falcini F, Calistri D, Zampiga V, Danesi R.
    • Front Oncol. 2022 Feb 14;12:835346. doi: 10.3389/fonc.2022.835346.
    • Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
    • Samuel D, Diaz-Barbe A, Pinto A, Schlumbrecht M, George S.
    • Cells. 2022 Feb 4;11(3):539. doi: 10.3390/cells11030539.
    • Family History of Breast Cancer and Mammographic Breast Density in Premenopausal Women.
    • Han Y, Moore JX, Colditz GA, Toriola AT.
    • JAMA Netw Open. 2022 Feb 1;5(2):e2148983. doi: 10.1001/jamanetworkopen.2021.48983.

    Research news: Breast Density Linked to Familial Breast Cancer Risk. (Medscape)

    • An overview of genetic services delivery for hereditary breast cancer.
    • Reid S, Spalluto LB, Lang K, Weidner A, Pal T.
    • Breast Cancer Res Treat. 2022 Feb;191(3):491-500. doi: 10.1007/s10549-021-06478-z. Epub 2022 Jan 26.
    • Indications des mastectomies de réduction de risque en dehors du risque avéré de prédisposition héréditaire : recommandations du Collège national des gynécologues et obstétriciens français (CNGOF) [Non-genetic indications for risk reducing mastectomies: Guidelines of the National College of French Gynecologists and Obstetricians (CNGOF)].
    • Mathelin C, Barranger E, Boisserie-Lacroix M, Boutet G, Brousse S, Chabbert-Buffet N, Coutant C, Daraï E, Delpech Y, Duraes M, Espié M, Fornecker L, Golfier F, Grosclaude P, Hamy AS, Kermarrec E, Lavoué V, Lodi M, Luporsi É, Maugard CM, Molière S, Seror JY, Taris N, Uzan C, Vaysse C, Fritel X.
    • Gynecol Obstet Fertil Senol. 2022 Feb;50(2):107-120. French. doi: 10.1016/j.gofs.2021.12.005. Epub 2021 Dec 14.
    • Guideline, [Article in French]
    • Hermann N, Westergard S, McCready DR.
    • Harefuah. 2022 Feb;161(2):95-100. Hebrew.
    • [Article in Hebrew]
    • Development and pilot testing of an online decision aid for women considering risk-stratified breast screening.
    • Lippey J, Keogh L, Campbell I, Mann GB, Forrest L.
    • J Community Genet. 2022 Feb;13(1):137-141. doi: 10.1007/s12687-021-00571-y. Epub 2022 Jan 21.
    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.
    • Schwartz CJ, da Silva EM, Marra A, Gazzo AM, Selenica P, Rai VK, Mandelker D, Pareja F, Misyura M, D'Alfonso TM, Brogi E, Drullinsky P, Razavi P, Robson ME, Drago JZ, Wen HY, Zhang L, Weigelt B, Shia J, Reis-Filho JS, Zhang H.
    • Clin Cancer Res. 2022 Jan 15;28(2):404-413. doi: 10.1158/1078-0432.CCR-21-2027. Epub 2021 Oct 19.
    • Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53).
    • Omran M, Tham E, Brandberg Y, Ahlström H, Lundgren C, Paulsson-Karlsson Y, Kuchinskaya E, Silander G, Rosén A, Persson F, Leonhardt H, Stenmark-Askmalm M, Berg J, van Westen D, Bajalica-Lagercrantz S, Blomqvist L; the Swedish Clinical TP53 Study Group (SweClinTP53).
    • Cancers (Basel). 2022 Jan 13;14(2):380. doi: 10.3390/cancers14020380.
    • ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors.
    • Ueno S, Sudo T, Hirasawa A.
    • Int J Mol Sci. 2022 Jan 4;23(1):523. doi: 10.3390/ijms23010523.
    • Increasing referral of at-risk women for genetic counseling and BRCA testing using a screening tool in a community breast imaging center.
    • Arun BK, Peterson SK, Sweeney LE, Bluebond RD, Tidwell RSS, Makhnoon S, Kushwaha AC.
    • Cancer. 2022 Jan 1;128(1):94-102. doi: 10.1002/cncr.33866. Epub 2021 Aug 23.


    Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • Non-BRCA Early-Onset Breast Cancer in Young Women.
    • Gao Y, Samreen N, Heller SL.
    • Radiographics. 2022 Jan-Feb;42(1):5-22. doi: 10.1148/rg.210109.
    • Review


    Invited Commentary: The Challenges of Early-Onset Breast Cancer.

    • Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
    • Siegel A, Bremer RC, Klein WMP, Savage SA, Loud JT, Khincha PP.
    • Breast Cancer Res Treat. 2022 Jan;191(1):159-167. doi: 10.1007/s10549-021-06410-5. Epub 2021 Oct 15.
    • The Value of Tyrer-Cuzick Versus Gail Risk Modeling in Predicting Benefit from Screening MRI in Breast Cancer.
    • Sevdalis A, Deng X, Bandyopadhyay D, McGuire KP.
    • Eur J Breast Health. 2021 Dec 30 [eCollection 2022 Jan];18(1):79-84. doi: 10.4274/ejbh.galenos.2021.2021-8-2.
    • Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.
    • Ghunaim H, Laenen A, De Keyzer F, Soens J, Keupers M, Postema S, Neven P, Van Ongeval C.
    • Eur J Radiol. 2022 Jan;146:110074. doi: 10.1016/j.ejrad.2021.110074. Epub 2021 Nov 26.
    • Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
    • Jana S, Klára L, Markéta J, Petra K, Michal V, Lenka F, Michal Z, Zdenek K.
    • Klin Onkol. 2021 Winter;34(1):26-32. English. doi: 10.48095/ccko202126.
    • Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
    • Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, Nakagawara A, Tsunematsu Y.
    • Int J Clin Oncol. 2021 Dec;26(12):2161-2178. doi: 10.1007/s10147-021-02011-w. Epub 2021 Oct 11. Erratum in: Int J Clin Oncol. 2021 Dec 3;:
    • Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
    • Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB.
    • J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9.
    • Genetic Testing Challenges in Oncology: No Follow-up on Insurer Denial Delays Cancer Risk Management.
    • Ray T.
    • Precision Oncology News. Cancer Specialties. Breast Cancer. 2021 Nov 29.
    • Breast Irradiation is Well Tolerated in Carriers of a Pathogenic ATM Variant.
    • Zureick AH, Zakalik D, Rangarajan TS, Quinn TJ, Chen PY, Dilworth JT.
    • Int J Radiat Oncol Biol Phys. 2021 Nov 1;111(3S):e227. doi: 10.1016/j.ijrobp.2021.07.780.
    • Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).
    • McReynolds LJ, Biswas K, Giri N, Sharan SK, Alter BP.
    • Cancer Genet. 2021 Nov;258-259:101-109. doi: 10.1016/j.cancergen.2021.10.001. Epub 2021 Oct 4.
    • Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.
    • Chiang J, Chia TH, Yuen J, Shaw T, Li ST, Binte Ishak ND, Chew EL, Chong ST, Chan SH, Ngeow J.
    • JCO Precis Oncol. 2021 Nov;5:577-584. doi: 10.1200/PO.20.00399.
    • Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.
    • Cilento MA, Poplawski NK, Paramasivam S, Thomas DM, Kichenadasse G.
    • J Natl Compr Canc Netw. 2021 Nov;19(11):1212-1217. doi: 10.6004/jnccn.2021.7067.
    • Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
    • Klimkowski S, Ibrahim M, Ibarra Rovira JJ, Elshikh M, Javadi S, Klekers AR, Abusaif AA, Moawad AW, Ali K, Elsayes KM.
    • Cancers (Basel). 2021 Oct 13;13(20):5121. doi: 10.3390/cancers13205121.
    • Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
    • Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL.
    • JAMA Surg. 2021 Oct 13. doi: 10.1001/jamasurg.2021.5118. Epub ahead of print.
    • Breast Cancer Surgery: New Issues.
    • Magnoni F, Alessandrini S, Alberti L, Polizzi A, Rotili A, Veronesi P, Corso G.
    • Curr Oncol. 2021 Oct 11;28(5):4053-4066. doi: 10.3390/curroncol28050344.
    • Study: Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Sep 30.

    Original research:

    Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.

    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
    • Wright JD, Silver ER, Tan SX, Hur C, Kastrinos F.
    • JAMA Netw Open. 2021 Sep 1;4(9):e2123616. doi: 10.1001/jamanetworkopen.2021.23616.


    Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome

    • Frequency of Contralateral Prophylactic Mastectomy in Breast Cancer Patients with a Negative BRCA1 and BRCA2 Rapid Genetic Test Result.
    • Metcalfe KA, Eisen A, Poll A, Candib A, McCready D, Cil T, Wright F, Demsky R, Mancuso T, Sun P, Narod SA.
    • Ann Surg Oncol. 2021 Sep;28(9):4967-4973. doi: 10.1245/s10434-021-09855-6. Epub 2021 Mar 24.


    Genetic Testing and De-escalation of Contralateral Prophylactic Mastectomy.

    • Surgical Management of Hereditary Breast Cancer.
    • Berger ER, Golshan M.
    • Genes (Basel). 2021 Aug 31;12(9):1371. doi: 10.3390/genes12091371.
    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
    • Vaidyanathan A, Kaklamani V.
    • Curr Treat Options Oncol. 2021 Aug 23;22(10):85. doi: 10.1007/s11864-021-00887-4.
    • Review
    • Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
    • Ribeiro Guerra M, Coignard J, Eon-Marchais S, Dondon MG, Le Gal D, Beauvallet J, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Fricker JP, Gesta P, Noguès C, Faivre L, Berthet P, Luporsi E, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis-Lavignasse C, Venat-Bouvet L, Dreyfus H, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Fert-Ferrer S, Colas C, Frebourg T, Damiola F, Barjhoux L, Cavaciuti E, Mazoyer S, Tardivon A, Lesueur F, Stoppa-Lyonnet D, Andrieu N.
    • Breast Cancer Res. 2021 Aug 3;23(1):79. doi: 10.1186/s13058-021-01456-1.
    • Breast cancer rate after oophorectomy: A Prospective Danish Cohort Study.
    • Koch T, Jørgensen JT, Christensen J, Dehlendorff C, Priskorn L, Simonsen MK, Duun-Henriksen AK, Andersen ZJ, Juul A, Bräuner EV, Hickey M.
    • Int J Cancer. 2021 Aug 1;149(3):585-593. doi: 10.1002/ijc.33563. Epub 2021 Apr 2.
    • Breast cancer worry in higher-risk women offered preventive therapy: a UK multicentre prospective study.
    • Lloyd KE, Hall LH, Ziegler L, Smith SG; ENGAGE investigators.
    • Breast Cancer Res Treat. 2021 Aug;188(3):703-712. doi: 10.1007/s10549-021-06183-x. Epub 2021 Mar 17.
    • Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    • Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee.
    • Genet Med. 2021 Aug;23(8):1416-1423. doi: 10.1038/s41436-021-01151-8. Epub 2021 May 11.
    • Guidelines
    • Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
    • Evans DG, Howell SJ, Gandhi A, van Veen EM, Woodward ER, Harvey J, Barr L, Wallace A, Lalloo F, Wilson M, Hurley E, Lim Y, Maxwell AJ, Harkness EF, Howell A.
    • Breast Cancer Res Treat. 2021 Jul 26. doi: 10.1007/s10549-021-06333-1. Epub ahead of print.
    • Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
    • Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Jul 22:JCO2100531. doi: 10.1200/JCO.21.00531. Epub ahead of print.

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

    • Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
    • Garrett A, Talukdar S, Izatt L, Brady AF, Whyte S, Josephs KS, Shanmugasundaram M, Guillemot LS, Vakili D, Ey S, Ahmed M.
    • J Med Genet. 2021 Jul 15:jmedgenet-2021-107742. doi: 10.1136/jmedgenet-2021-107742. Epub ahead of print.
    • MRN complex and cancer risk: old bottles, new wine.
    • Elkholi IE, Foulkes WD, Rivera B.
    • Clin Cancer Res. 2021 Jul 14:clincanres.1509.2021. doi: 10.1158/1078-0432.CCR-21-1509. Epub ahead of print.
    • Commentary, Review
    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Original research:

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

    • Ten years follow-up of histologically benign calcifications in the breast after vacuum-assisted stereotactic biopsy (VASB): Is additional mammographic follow-up warranted?
    • van Bekkum S, Dams FEM, Westenend PJ, van Rosmalen J, Menke-Pluijmers MBE, Kock MCJM.
    • Breast. 2021 Jun 26;59:135-143. doi: 10.1016/j.breast.2021.06.008. Epub ahead of print.
    • Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.
    • Gallagher S, Hughes E, Kurian AW, Domchek SM, Garber J, Probst B, Morris B, Tshiaba P, Meek S, Rosenthal E, Roa B, Slavin TP, Wagner S, Weitzel J, Gutin A, Lanchbury JS, Robson M.
    • JCO Precis Oncol. 2021 Jun 24;5:PO.20.00484. doi: 10.1200/PO.20.00484.
    • PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy.
    • Dragoo DD, Taher A, Wong VK, Elsaiey A, Consul N, Mahmoud HS, Mujtaba B, Stanietzky N, Elsayes KM.
    • Cancers (Basel). 2021 Jun 22;13(13):3120. doi: 10.3390/cancers13133120.
    • Development and pilot of an online, personalized risk assessment tool for a breast cancer precision medicine trial.
    • Keane H, Huilgol YS, Shieh Y, Tice JA, Belkora J, Sepucha K, Shibley WP, Wang T, Che M, Goodman D, Ozanne E, Fiscalini AS, Esserman LJ.
    • NPJ Breast Cancer. 2021 Jun 17;7(1):78. doi: 10.1038/s41523-021-00288-8.
    • Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
    • Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME.
    • J Clin Oncol. 2021 Jun 16:JCO2003661. doi: 10.1200/JCO.20.03661. Epub ahead of print.
    • Living Life to its Fullest with an ATM Mutation in a Coronavirus Pandemic.
    • Sandhu S.
    • FORCE. Blog. 2021 Jun 11.
    • Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than BRCA1 or BRCA2.
    • Robson M.
    • J Clin Oncol. 2021 Jun 9:JCO2100999. doi: 10.1200/JCO.21.00999. Epub ahead of print.
    • Case report
    • Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
    • Gao C, Polley EC, Hart SN, Huang H, Hu C, Gnanaolivu R, Lilyquist J, Boddicker NJ, Na J, Ambrosone CB, Auer PL, Bernstein L, Burnside ES, Eliassen AH, Gaudet MM, Haiman C, Hunter DJ, Jacobs EJ, John EM, Lindström S, Ma H, Neuhausen SL, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Patel AV, Palmer JR, Sandler DP, Tamimi R, Taylor JA, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg CR, Yao S, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Couch FJ, Kraft P.
    • J Clin Oncol. 2021 Jun 8:JCO2001992. doi: 10.1200/JCO.20.01992. Epub ahead of print.
    • Fanconi Anemia.
    • Mehta PA, Ebens C.
    • 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
    • Decision Aids for Preventive Treatment Alternatives for BRCA1/2 Mutation Carriers: a Systematic Review.
    • Krassuski LM, Kautz-Freimuth S, Vennedey V, Rhiem K, Schmutzler RK, Stock S.
    • Geburtshilfe Frauenheilkd. 2021 Jun;81(6):679-698. doi: 10.1055/a-1326-1792. Epub 2021 Jun 21.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • Homologous recombination deficiency: cancer predispositions and treatment implications.
    • Toh MR, Ngeow J.
    • Oncologist. 2021 May 22. doi: 10.1002/onco.13829. Epub ahead of print.
    • A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How?
    • Cai Y, Li J, Gao Y, Yang K, He J, Li N, Tian J.
    • Cancer Med. 2021 May;10(10):3437-3448. doi: 10.1002/cam4.3898. Epub 2021 May 1.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
    • Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
    • J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
    • Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
    • Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
    • Fam Cancer. 2021 Apr 28. doi: 10.1007/s10689-021-00258-w. Epub ahead of print.
    • CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
    • Apostolou P, Dellatola V, Papadimitriou C, Kalfakakou D, Fountzilas E, Faliakou E, Fountzilas G, Romanidou O, Konstantopoulou I, Fostira F.
    • Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
    • Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
    • Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L.
    • Genes (Basel). 2021 Apr 21;12(5):616. doi: 10.3390/genes12050616.
    • Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
    • Cheah SK, Bisambar CR, Pitfield D, Giger O, Hoopen RT, Martin JE, Clark GR, Park SM, Parkinson C, Challis BG, Casey RT.
    • Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:EDM200196. doi: 10.1530/EDM-20-0196. Epub ahead of print.
    • 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, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, 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, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P.
    • Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1.
    • Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.
    • Kastora S, Triantafyllidou O, Kounidas G, Vlahos N.
    • BMJ Case Rep. 2021 Mar 24;14(3):e241251. doi: 10.1136/bcr-2020-241251.
    • Case report
    • Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
    • Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
    • Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Forged Genetic Test Report Leads to Incorrect Management.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2021 Mar 1.
    • Ovarian cancer risk in Lynch syndrome: it's time to individualise.
    • Ring KL.
    • BJOG. 2021 Mar;128(4):737. doi: 10.1111/1471-0528.16481. Epub 2020 Sep 29.

    Original research:

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

    • 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
    • Gene Screenings Hold Disease Clues, but Unexplained Anomalies Often Raise Fears.
    • Bennett C.
    • KHN [Kaiser Health News]. 2021 Feb 9.

    Press: Ambiguous genetic test results can be unsettling. Worse, they can lead to needless surgeries. (Washington Post)

    Press: My Gene Counsel Quoted in Washington Post and Kaiser Health News. (My Gene Counsel)

    • 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):459. 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.
    • New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
    • Evans DG, Woodward ER.
    • Fam Cancer. 2021 Jan;20(1):1-7. doi: 10.1007/s10689-020-00207-z.
    • Specialist recommendation for chemoprevention medications in patients at familial risk of breast cancer: a cross-sectional survey in England.
    • Lee SI, Curtis H, Qureshi S, Dutton B, Qureshi N.
    • J Community Genet. 2021 Jan;12(1):111-120. doi: 10.1007/s12687-020-00490-4. Epub 2020 Oct 28.
    • Genetic Testing Challenges in Oncology: Woman Without High Breast Cancer Risk Recommended Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Dec 22.
    • 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
    • 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.
    • Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.
    • Dueñas N, Navarro M, Teulé À, Solanes A, Salinas M, Iglesias S, Munté E, Ponce J, Guardiola J, Kreisler E, Carballas E, Cuadrado M, Matias-Guiu X, de la Ossa N, Lop J, Lázaro C, Capellá G, Pineda M, Brunet J.
    • Cancers (Basel). 2020 Nov 18;12(11):3419. doi: 10.3390/cancers12113419.
    • 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.
    • Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.
    • Kwong A, Shin VY, Ho CYS, Au CH, Slavin TP, Weitzel JN, Chan TL, Ma ESK.
    • BMC Cancer. 2020 Nov 2;20(1):1053. doi: 10.1186/s12885-020-07476-y.
    • Identifying Lynch Syndrome-Related Breast Cancers.
    • Sorscher S.
    • JCO Precis Oncol. 2020 Nov;4:579-580. doi: 10.1200/PO.20.00085.


    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.

    • 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.
    • BARD1 and Breast Cancer: The Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women.
    • Sniadecki M, Brzezinski M, Darecka K, Klasa-Mazurkiewicz D, Poniewierza P, Krzeszowiec M, Kmiec N, Wydra D.
    • Genes (Basel). 2020 Oct 24;11(11):1251. doi: 10.3390/genes11111251.
    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

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

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

    Original research:

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

    • 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
    • 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
    • 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):2290. 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, 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.
    • ASTRO Radiation Therapy Summary of the ASCO-ASTRO-SSO Guideline on Management of Hereditary Breast Cancer.
    • Trombetta MG, Dragun A, Mayr NA, Pierce LJ.
    • Pract Radiat Oncol. 2020 Jul-Aug;10(4):235-242. doi: 10.1016/j.prro.2020.04.003. Epub 2020 May 21.


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

    • UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
    • Hanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG; Consensus Group Members.
    • J Med Genet. 2020 Jun 22:jmedgenet-2020-106876. doi: 10.1136/jmedgenet-2020-106876. Epub ahead of print.
    • Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline.
    • Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, Dragun A, Gelpi JB, Hofstatter EW, Isaacs CJ, Jatoi I, Kennedy E, Litton JK, Mayr NA, Qamar RD, Trombetta MG, Harvey BE, Somerfield MR, Zakalik D.
    • J Clin Oncol. 2020 Jun 20;38(18):2080-2106. doi: 10.1200/JCO.20.00299. Epub 2020 Apr 3.

    Summary, Review:

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

    Summary, Review:

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

    Commentary, Review:

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

    • 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?

    • 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.]
    • Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT).
    • Domchek SM, Brower J, Symecko H, Marcell V, Walsh MF, Hamilton JG, Couch F, Offit K, Garber JE, Robson ME.
    • J Clin Oncol. 2020 May 20;38(15 Suppl):1508-1508. doi: 10.1200/JCO.2020.38.15_suppl.1508. Epub 2020 May 25.
    • Conference abstract
    • 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]
    • 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;4:51-60. 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.
    • 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

    • Pathogenic Variants in Less Familiar Cancer Susceptibility Genes: What Happens After Genetic Testing?
    • Hall ET, Parikh D, Caswell-Jin JL, Gupta T, Mills MA, Kingham KE, Koff R, Ford JM, Kurian AW.
    • JCO Precis Oncol. [2018 Nov 8];2:1-10. doi: 10.1200/PO.18.00167.
    • 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.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.
    • 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
    • UC Launches Framingham-Like Study to Inform Personalized Breast Cancer Screening Guidelines.
    • Ray T.
    • GenomeWeb. 2015 Oct 26.
    • News
    • 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.
    • Hoffman RM, Elmore JG, Fairfield KM, Gerstein BS, Levin CA, Pignone MP.
    • Am J Prev Med. 2014 Sep;47(3):251-9. doi: 10.1016/j.amepre.2014.04.011. Epub 2014 Jun 9.
    • 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
    • Prospective study of high-risk, BRCA1/2-mutation negative women: the 'negative study'.
    • Kotsopoulos J, Metcalfe K, Alston J, Nikitina D, Ginsburg O, Eisen A, Demsky R, Akbari M, Zbuk K, Narod SA.
    • BMC Cancer. 2014 Mar 25;14:221. doi: 10.1186/1471-2407-14-221.
    • Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?
    • Gupta S, Jaworska-Bieniek K, Lubinski J, Jakubowska A.
    • Mutagenesis. 2013 Nov;28(6):625-9. doi: 10.1093/mutage/get050. Epub 2013 Oct 8.