Ascertainment for HBOC Testing ~ Genetic Testing
~ Genetics of Breast & Ovarian Cancer

List was last updated on Dec 5, 2019 @ 4:06 am.


    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
    • Carlo MI, Ravichandran V, Srinavasan P, Bandlamudi C, Kemel Y, Ceyhan-Birsoy O, Mukherjee S, Mandelker D, Chaim J, Knezevic A, Rana S, Fnu Z, Breen K, Arnold AG, Khurram A, Tkachuk K, Cipolla CK, Regazzi A, Hakimi AA, Al-Ahmadie H, Dalbagni G, Cadoo KA, Walsh MF, Teo MY, Funt SA, Coleman JA, Bochner BH, Iyer G, Solit DB, Stadler ZK, Zhang L, Rosenberg JE, Taylor BS, Robson ME, Berger MF, Vijai J, Bajorin DF, Offit K.
    • J Clin Oncol. 2019 Dec 3:JCO1901395. doi: 10.1200/JCO.19.01395. [Epub ahead of print]
    • Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793.
    • [No authors listed]
    • Obstet Gynecol. 2019 Dec;134(6):e143-e149. doi: 10.1097/AOG.0000000000003562.

    Summary:

    Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION SUMMARY, Number 793.

    • Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
    • Wilson CL, Wang Z, Liu Q, Ehrhardt MJ, Mostafavi R, Easton J, Mulder H, Hedges DJ, Wang S, Rusch M, Edmonson M, Levy S, Lanctot JQ, Currie K, Lear M, Patel A, Sapkota Y, Brooke RJ, Moon W, Chang TC, Chen W, Kesserwan CA, Wu G, Nichols KE, Hudson MM, Zhang J, Robison LL, Yasui Y.
    • Pediatr Blood Cancer. 2019 Nov 17:e28047. doi: 10.1002/pbc.28047. [Epub ahead of print]
    • NorthBay Healthcare to Pilot GenomeSmart Genetic Test Recommendation Platform.
    • [No author given]
    • GenomeWeb. 2019 Nov 12.

    Press: Startup GenomeSmart to Address Lack of Genetic Testing Knowledge With Digital Solution. (GenomeWeb)

    • Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.
    • Dwarte T, McKay S, Johns A, Tucker K, Spigelman AD, Williams D, Stoita A.
    • Hered Cancer Clin Pract. 2019 Oct 23;17:30. doi: 10.1186/s13053-019-0129-1. eCollection 2019.
    • Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
    • Terashima T, Umemoto K, Takahashi H, Hosoi H, Takai E, Kondo S, Sakamoto Y, Mitsunaga S, Ohno I, Hashimoto Y, Sasaki M, Ikeda M, Shimada K, Kaneko S, Yachida S, Sugano K, Okusaka T, Morizane C.
    • Oncotarget. 2019 Oct 15;10(57):5949-5957. doi: 10.18632/oncotarget.27224. eCollection 2019 Oct 15.
    • A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.
    • Sun L, Brentnall A, Patel S, Buist DSM, Bowles EJA, Evans DGR, Eccles D, Hopper J, Li S, Southey M, Duffy S, Cuzick J, Dos Santos Silva I, Miners A, Sadique Z, Yang L, Legood R, Manchanda R.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.3323. [Epub ahead of print]

    CME Audio Interview: Cost-effectiveness of Multigene Testing for All Patients With Breast Cancer. (JN Learning : JAMA Oncology)

    Press: Study Finds Breast, Ovarian Cancer Gene Tests Cost-Effective for Unselected Breast Cancer Patients. (GenomeWeb)

    • Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility-Pandora's Box Is Opening Wider.
    • Robson M, Domchek S.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.4004. [Epub ahead of print]
    • Commentary
    • Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? Guidelines Have Expanded.
    • [No author given]
    • My Gene Counsel. 2019 Oct 3.
    • Genetic testing in ovarian cancer - clinical impact and current practices.
    • Knabben L, Imboden S, Mueller MD.
    • Horm Mol Biol Clin Investig. 2019 Oct 2. pii: /j/hmbci.ahead-of-print/hmbci-2019-0025/hmbci-2019-0025.xml. doi: 10.1515/hmbci-2019-0025. [Epub ahead of print]
    • Review
    • STELO: a new tool for family physicians for the correct identification of inherited cancer syndromes.
    • Mariani C, Carnevali I, Lapi F, Paganini E, Civitelli C, Muzzolon J, Franzetti A, Guerroni A, Tibiletti MG.
    • Fam Pract. 2019 Sep 19. pii: cmz045. doi: 10.1093/fampra/cmz045. [Epub ahead of print]
    • Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.
    • Greenberg S, Buys SS, Edwards SL, Espinel W, Fraser A, Gammon A, Hafen B, Herget KA, Kohlmann W, Roundy C, Sweeney C.
    • Cancer Med. 2019 Sep 18. doi: 10.1002/cam4.2534. [Epub ahead of print]
    • The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.
    • Ebrahimi E, Sellars E, Shirkoohi R, Harirchi I, Ghiasvand R, Mohebbi E, Zendehdel K, Akbari MR.
    • Cancer Prev Res (Phila). 2019 Aug 26. pii: canprevres.0056.2019. doi: 10.1158/1940-6207.CAPR-19-0056. [Epub ahead of print]
    • Universal Genetic Testing for All Breast Cancer Patients.
    • Copur MS.
    • Oncology (Williston Park). 2019 Aug 23;33(8). pii: 683731.
    • Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
    • Casasanta N, Kipnis ST, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R.
    • Clin Breast Cancer. 2019 Aug 21. pii: S1526-8209(19)30646-9. doi: 10.1016/j.clbc.2019.07.004. [Epub ahead of print]
    • Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
    • Terkelsen T, Christensen LL, Fenton DC, Jensen UB, Sunde L, Thomassen M, Skytte AB.
    • Fam Cancer. 2019 Aug 21. doi: 10.1007/s10689-019-00141-9. [Epub ahead of print]
    • Evaluation of a Clinical Decision Support System for the Prescription of Genetic Tests in the Gynecological Cancer Risk.
    • Moreno-Conde J, Alvarez-Romero C, Suárez-Mejías C, Martínez-Maestre MÁ, Silvan-Alfaro JM, Parra-Calderón CL.
    • Stud Health Technol Inform. 2019 Aug 21;264:704-708. doi: 10.3233/SHTI190314.
    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related 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, Simon MA, Tseng CW, Wong JB.
    • JAMA. 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987.

    Evidence report, Review:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

    Guidelines [Internet]:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].

    Editorial:

    Broadening Criteria for BRCA1/2 Evaluation: Placing the USPSTF Recommendation in Context.

    Editorial:

    USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan.

    Editorial:

    Hereditary Cancer Evaluation in 2019-a Rapidly Evolving Landscape.

    Editorial:

    US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.

    News:

    USPSTF Calls for More BRCA Screening.

    Patient Page:

    Should I Be Tested for BRCA Mutations?

    Audio Interview, CME Activity: USPSTF Recommendation: Assessment, Counseling, and Testing for BRCA-Related Cancer. (JAMA)

    Press: USPSTF Recommendations on BRCA Mutation Testing. (Medscape Oncology)

    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
    • Nelson HD, Pappas M, Cantor A, Haney E, Holmes R.
    • JAMA. 2019 Aug 20;322(7):666-685. doi: 10.1001/jama.2019.8430.

    Guidelines:

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

    Guidelines:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].

    • Should I Be Tested for BRCA Mutations?
    • Jin J.
    • JAMA. 2019 Aug 20;322(7):702. doi: 10.1001/jama.2019.11251.

    Guidelines:

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

    • USPSTF Recommendation: Assessment, Counseling, and Testing for BRCA-Related Cancer.
    • Mangione CM.
    • JAMA. 2019 Aug 20.

    Guidelines:

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

    • BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group.
    • Bu H, Chen J, Li Q, Hou J, Wei Y, Yang X, Ma Y, He H, Zhang Y, Kong B.
    • J Obstet Gynaecol Res. 2019 Aug 14. doi: 10.1111/jog.14090. [Epub ahead of print]
    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
    • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
    • Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]
    • Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].
    • Nelson HD, Pappas M, Cantor A, Haney E, Holmes R, Stillman L.
    • Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug. Report No.: 19-05251-EF-1. U.S. Preventive Services Task Force Evidence Syntheses, formerly Systematic Evidence Reviews.

    Guidelines:

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

    Guidelines:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.

    • Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders.
    • Ready K, Johansen Taber KA, Bonhomme N, Lichtenfeld JL.
    • Genet Med. 2019 Aug;21(8):1702-1704. doi: 10.1038/s41436-018-0430-9. Epub 2019 Jan 28.
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma.
    • Wang Z, Wilson CL, Armstrong GT, Hudson MM, Zhang J, Nichols KE, Robison LL.
    • JAMA Oncol. 2019 Jul 25. doi: 10.1001/jamaoncol.2019.2203. [Epub ahead of print]

    Press: Germline BRCA2 Mutations Linked to Pediatric Non-Hodgkin Lymphoma Risk. (GenomeWeb)

    Press: Pediatric Lymphoma Joins Family of BRCA2 Cancers. (Medscape Oncology)

    • Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
    • Zayas-Villanueva OA, Campos-Acevedo LD, Lugo-Trampe JJ, Hernández-Barajas D, González-Guerrero JF, Noriega-Iriondo MF, Ramírez-Sánchez IA, Martínez-de-Villarreal LE.
    • BMC Cancer. 2019 Jul 22;19(1):722. doi: 10.1186/s12885-019-5950-4.
    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [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]
    • Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests.
    • Amendola LM, Hart MR, Bennett RL, Horike-Pyne M, Dorschner M, Shirts B, Jarvik GP.
    • J Genet Couns. 2019 Jul 17. doi: 10.1002/jgc4.1155. [Epub ahead of print]
    • Risk Prediction Tools Available for Germline BRCA1/2 Mutations Underperform in Prostate Cancer Patients.
    • Oliva L, Lozano R, Llácer C, Aragón I, Pajares BI, Sáez MI, Herrera-Imbroda B, Montesa A, Hernández D, Villatoro R, Otero A, Correa R, Grau G, Peinado P, Pacheco MI, García-Galisteo E, Rueda A, Machuca FJ, Alba E, Márquez-Aragonés A, Olmos D, Castro E.
    • Eur Urol Oncol. 2019 Jul 12. pii: S2588-9311(19)30100-2. doi: 10.1016/j.euo.2019.06.019. [Epub ahead of print]
    • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.
    • Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X.
    • J Med Genet. 2019 Jul 11. pii: jmedgenet-2019-105991. doi: 10.1136/jmedgenet-2019-105991. [Epub ahead of print]
    • Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.
    • Ashour M, Ezzat Shafik H.
    • Cancer Manag Res. 2019 Jul 8;11:6275-6284. doi: 10.2147/CMAR.S206817. eCollection 2019.
    • Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men.
    • Chandrasekar T, Gross L, Gomella LG, Hegarty SE, Leong JY, Giri VN.
    • Eur Urol Oncol. 2019 Jul 2. pii: S2588-9311(19)30085-9. doi: 10.1016/j.euo.2019.06.010. [Epub ahead of print]
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
    • Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
    • NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.
    • Breast Cancer Risk Prediction Models: Challenges in Clinical Application.
    • Paquin M, Fasolino T, Steck MB.
    • Clin J Oncol Nurs. 2019 Jun 1;23(3):256-259. doi: 10.1188/19.CJON.256-259.
    • Review
    • Referral patterns for genetic counselling of women diagnosed with tubo-ovarian or peritoneal high-grade serous carcinoma (HGSC) within the Auckland Gynaecological Oncology Centre.
    • Burling MJ, Gamet K, Eva L, Tan AL.
    • Aust N Z J Obstet Gynaecol. 2019 Jun;59(3):444-449. doi: 10.1111/ajo.12964. Epub 2019 Mar 18.
    • What does risk of future cancer mean to breast cancer patients?
    • Kaiser K, Cameron KA, Beaumont J, Garcia SF, Lacson L, Moran M, Karavites L, Rodgers C, Kulkarni S, Hansen NM, Khan SA.
    • Breast Cancer Res Treat. 2019 Jun;175(3):579-584. doi: 10.1007/s10549-019-05182-3. Epub 2019 Mar 6.
    • Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).
    • Heinlen C, Hovick SR, Brock GN, Klamer BG, Toland AE, Senter L.
    • J Genet Couns. 2019 Jun;28(3):664-672. doi: 10.1002/jgc4.1079. Epub 2019 Mar 7.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Startup GenomeSmart to Address Lack of Genetic Testing Knowledge With Digital Solution.
    • Ray T.
    • GenomeWeb. 2019 May 20.

    Press: NorthBay Healthcare to Pilot GenomeSmart Genetic Test Recommendation Platform. (GenomeWeb)

    • Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services.
    • Moss CA, Cojocaru E, Hanwell J, Ward S, Xu W, van Zyl M, O'Leary L, de Bono JS, Banerji U, Kaye SB, Minchom A, George AJ, Lopez J, McVeigh TP.
    • Eur J Cancer. 2019 May 9;114:97-106. doi: 10.1016/j.ejca.2019.04.009. [Epub ahead of print]
    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review.
    • Lee SI, Patel M, Dutton B, Weng S, Luveta J, Qureshi N.
    • J Community Genet. 2019 May 6. doi: 10.1007/s12687-019-00419-6. [Epub ahead of print]
    • Review
    • Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
    • Kemp Z, Turnbull A, Yost S, Seal S, Mahamdallie S, Poyastro-Pearson E, Warren-Perry M, Eccleston A, Tan MM, Teo SH, Turner N, Strydom A, George A, Rahman N.
    • JAMA Netw Open. 2019 May 3;2(5):e194428. doi: 10.1001/jamanetworkopen.2019.4428.
    • Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance.
    • Abe T, Blackford AL, Tamura K, Ford M, McCormick P, Chuidian M, Almario JA, Borges M, Lennon AM, Shin EJ, Klein AP, Hruban RH, Canto MI, Goggins M.
    • J Clin Oncol. 2019 May 1;37(13):1070-1080. doi: 10.1200/JCO.18.01512. Epub 2019 Mar 18.
    • A commentary on population genetic testing for primary prevention: changing landscape and the need to change paradigm.
    • Manchanda R, Gaba F.
    • BJOG. 2019 May;126(6):686-689. doi: 10.1111/1471-0528.15657.
    • Commentary
    • Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Clamp AR, Hasan J, Mitchell CL, Schlecht H, Woodward ER, Lallo FI, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • J Med Genet. 2019 May;56(5):301-307. doi: 10.1136/jmedgenet-2018-105792. Epub 2019 Jan 25.
    • Quantifying risk stratification provided by diagnostic tests and risk predictions: Comparison to AUC and decision curve analysis.
    • Katki HA.
    • Stat Med. 2019 Apr 30. doi: 10.1002/sim.8163. [Epub ahead of print]
    • Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population.
    • McGuinness JE, Trivedi MS, Silverman T, Marte A, Mata J, Kukafka R, Crew KD.
    • Cancer Genet. 2019 Apr 24. pii: S2210-7762(19)30059-6. doi: 10.1016/j.cancergen.2019.04.063. [Epub ahead of print]
    • The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
    • Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.
    • J Am Geriatr Soc. 2019 Apr 23. doi: 10.1111/jgs.15937. [Epub ahead of print]
    • Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
    • Kryklyva V, Haj Mohammad N, Morsink FHM, Ligtenberg MJL, Offerhaus GJA, Nagtegaal ID, de Leng WWJ, Brosens LAA.
    • Cancer Biol Ther. 2019 Apr 19:1-7. doi: 10.1080/15384047.2019.1595274. [Epub ahead of print]
    • Hereditary Breast Cancer Risk Analysis in Uninsured Mexican-Origin Women Living in the U.S.-Mexico Border Region.
    • Salinas JJ, Roy R, Dwivedi AK, Shokar NK.
    • Hisp Health Care Int. 2019 Apr 12:1540415319837850. doi: 10.1177/1540415319837850. [Epub ahead of print]
    • Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
    • Deng H, Chen M, Guo X, Heng J, Xu X, Peng L, Jiang H, Li G, Day JX, Li J, Shan D, Li Y, Zhou Y, Liu B, Dai L, Wang X, Wang J.
    • Mol Genet Genomic Med. 2019 Apr 10:e672. doi: 10.1002/mgg3.672. [Epub ahead of print]
    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
    • Bochtler T, Endris V, Leichsenring J, Reiling A, Neumann O, Volckmar AL, Kirchner M, Allgäuer M, Schirmacher P, Krämer A, Stenzinger A.
    • Int J Cancer. 2019 Apr 9. doi: 10.1002/ijc.32316. [Epub ahead of print]
    • Benchmarking of a checklist for the identification of familial risk for breast and ovarian cancers in a prospective cohort.
    • Rhiem K, Bücker-Nott HJ, Hellmich M, Fischer H, Ataseven B, Dittmer-Grabowski C, Latos K, Pelzer V, Seifert M, Schmidt A, Rezek D, Groh U, Meinerz W, Crommelinck D, Hahnen E, Wesselmann S, Schmutzler RK.
    • Breast J. 2019 Apr 5. doi: 10.1111/tbj.13257. [Epub ahead of print]
    • Germline Genetic Testing: What the Breast Surgeon Needs to Know.
    • Plichta JK, Sebastian ML, Smith LA, Menendez CS, Johnson AT, Bays SM, Euhus DM, Clifford EJ, Jalali M, Kurtzman SH, Taylor WA, Hughes KS.
    • Ann Surg Oncol. 2019 Apr 2. doi: 10.1245/s10434-019-07341-8. [Epub ahead of print]
    • Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.
    • Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O.
    • JAMA Oncol. 2019 Apr 1;5(4):523-528. doi: 10.1001/jamaoncol.2018.6760.

    Press: Expanding Genetic Testing for Prostate Cancer Could Improve Patient Management. (Medscape Oncology)

    • Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
    • Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.
    • J Natl Cancer Inst. 2019 Apr 1;111(4):350-364. doi: 10.1093/jnci/djy132.
    • Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
    • Singer CF, Tan YY, Muhr D, Rappaport C, Gschwantler-Kaulich D, Grimm C, Polterauer S, Pfeiler G, Berger A, Tea MM.
    • Cancer Med. 2019 Apr;8(4):1875-1881. doi: 10.1002/cam4.2000. Epub 2019 Mar 1.
    • Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
    • Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, Lee JEA, Lewis A, Morgan JA, Limb S, Young MA, James PA, Trainer AH, Campbell IG.
    • Genet Med. 2019 Apr;21(4):913-922. doi: 10.1038/s41436-018-0277-0. Epub 2018 Sep 26.
    • Targeting DNA Repair Defects for Precision Medicine in Prostate Cancer.
    • Athie A, Arce-Gallego S, Gonzalez M, Morales-Barrera R, Suarez C, Casals Galobart T, Hernandez Viedma G, Carles J, Mateo J.
    • Curr Oncol Rep. 2019 Mar 27;21(5):42. doi: 10.1007/s11912-019-0790-6.
    • Review
    • A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer.
    • Forbes C, Fayter D, de Kock S, Quek RG.
    • Cancer Manag Res. 2019 Mar 22;11:2321-2337. doi: 10.2147/CMAR.S189627. eCollection 2019.
    • Impact of Implementing B-RSTTM to Screen for Hereditary Breast and Ovarian Cancer on Risk Perception and Genetic Counseling Uptake Among Women in an Academic Safety Net Hospital.
    • Wernke K, Bellcross C, Gabram S, Ali N, Stanislaw C.
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    • BRCA mutation testing for ovarian cancer in the context of available targeted therapy: Survey and consensus of Hong Kong specialists.
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    • Asia Pac J Clin Oncol. 2019 Mar;15 Suppl 2:20-31. doi: 10.1111/ajco.13116. Epub 2019 Mar 6.
    • BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.
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    • Mol Genet Genomic Med. 2019 Mar;7(3):e493. doi: 10.1002/mgg3.493. Epub 2019 Jan 16.
    • Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
    • Giri VN, Hegarty SE, Hyatt C, O'Leary E, Garcia J, Knudsen KE, Kelly WK, Gomella LG.
    • Prostate. 2019 Mar;79(4):333-339. doi: 10.1002/pros.23739. Epub 2018 Nov 18.
    • Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.
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    • World J Gastrointest Oncol. 2019 Feb 15;11(2):102-116. doi: 10.4251/wjgo.v11.i2.102.
    • Genetic Service Delivery Models: Exploring Approaches to Care for Families With Hereditary Cancer Risk.
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    • Clin J Oncol Nurs. 2019 Feb 1;23(1):60-67. doi: 10.1188/19.CJON.60-67.
    • A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
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    • Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):293-302. doi: 10.1158/1055-9965.EPI-18-0584. Epub 2019 Jan 28.
    • Guidelines-Based Cancer Risk Assessment.
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    • Semin Oncol Nurs. 2019 Feb;35(1):34-46. doi: 10.1016/j.soncn.2018.12.010. Epub 2019 Jan 22.
    • Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
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    • BRCA mutation screening and patterns among high-risk Lebanese subjects.
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    • Hered Cancer Clin Pract. 2019 Jan 18;17:4. doi: 10.1186/s13053-019-0105-9. eCollection 2019.
    • Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
    • Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA.
    • Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019.
    • Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes.
    • Bucheit L, Johansen Taber K, Ready K.
    • Hered Cancer Clin Pract. 2019 Jan 11;17:2. doi: 10.1186/s13053-018-0099-8. eCollection 2019.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
    • Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.
    • Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
    • Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR.
    • Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9.
    • Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing.
    • Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, Long JM, McKenna D, Shah P, Bradbury A, Morrissette JJD, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.19.00076. Epub 2019 Aug 19.
    • An Applied Framework in Support of Shared Decision Making about BRCA Genetic Testing.
    • Silverman TB, Kuperman GJ, Vanegas A, Sin M, Dimond J, Crew KD, Kukafka R.
    • AMIA Annu Symp Proc. 2018 Dec 5;2018:961-969. eCollection 2018.
    • Automatic Genetic Risk Assessment Calculation Using Breast Cancer Family History Data from the EHR compared to Self-Report.
    • Sin M, McGuinness JE, Trivedi MS, Vanegas A, Silverman TB, Crew KD, Kukafka R.
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    • Response to "Male Patients With Breast Cancer: Addressing Needs Using an Educational Task Force".
    • Mahon SM.
    • Clin J Oncol Nurs. 2018 Dec 1;22(6):610. doi: 10.1188/18.CJON.610.

    Original Research: Male Patients With Breast Cancer: Addressing Needs Using an Educational Task Force. (Clinical Journal of Oncology Nursing)

    • 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

    • [Genetic profiling in the diagnosis of hereditary prostate cancer: Where do we stand?]
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    • Review, [Article in German]
    • Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.
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    • Hum Mutat. 2018 Dec;39(12):1764-1773. doi: 10.1002/humu.23656. Epub 2018 Oct 3.
    • Review
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    • Obstet Gynecol. 2018 Nov;132(5):1121-1129. doi: 10.1097/AOG.0000000000002916.
    • Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
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    • Ann Surg Oncol. 2018 Oct;25(10):2925-2931. doi: 10.1245/s10434-018-6621-4. Epub 2018 Jul 11.
    • Promoting guideline-based cancer genetic risk assessment for hereditary breast and ovarian cancer in ethnically and geographically diverse cancer survivors: Rationale and design of a 3-arm randomized controlled trial.
    • Kinney AY, Howell R, Ruckman R, McDougall JA, Boyce TW, Vicuña B, Lee JH, Guest DD, Rycroft R, Valverde PA, Gallegos KM, Meisner A, Wiggins CL, Stroup A, Paddock LE, Walters ST.
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    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
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    • Gynecol Oncol. 2018 Oct;151(1):145-152. doi: 10.1016/j.ygyno.2018.07.024. Epub 2018 Aug 2.
    • Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
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    • A feasibility study of breast cancer genetic risk assessment in a federally qualified health center.
    • Hoskins KF, Tejeda S, Vijayasiri G, Chukwudozie IB, Remo MH, Shah HA, Abraham IE, Balay LE, Maga TK, Searles ER, Korah VJ, Biggers A, Stolley MR, Warnecke RB.
    • Cancer. 2018 Sep 15;124(18):3733-3741. doi: 10.1002/cncr.31635. Epub 2018 Oct 15.
    • Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.
    • Brand R, Borazanci E, Speare V, Dudley B, Karloski E, Peters MLB, Stobie L, Bahary N, Zeh H, Zureikat A, Hogg M, Lee K, Tsung A, Rhee J, Ohr J, Sun W, Lee J, Moser AJ, DeLeonardis K, Krejdovsky J, Dalton E, LaDuca H, Dolinsky J, Colvin A, Lim C, Black MH, Tung N.
    • Cancer. 2018 Sep 1;124(17):3520-3527. doi: 10.1002/cncr.31628. Epub 2018 Aug 1.
    • Comprehensive Proteomic Profiling-derived Immunohistochemistry-based Prediction Models for BRCA1 and BRCA2 Germline Mutation-related Breast Carcinomas.
    • Vos S, Elias SG, van der Groep P, Smolders YH, van Gils CH, van Diest PJ.
    • Am J Surg Pathol. 2018 Sep;42(9):1262-1272. doi: 10.1097/PAS.0000000000001115.
    • Establishment of the Alabama Hereditary Cancer Cohort - strategies for the inclusion of underrepresented populations in cancer genetics research.
    • Bishop MR, Shah A, Shively M, Huskey ALW, Omeler SM, Bilgili EP, Jackson E, Daniell K, Stallworth E, Spina S, Shepp K, Bergstresser S, Davis A, Dean H, Gibson J, Johnson B, Merner ND.
    • Mol Genet Genomic Med. 2018 Sep;6(5):766-778. doi: 10.1002/mgg3.443. Epub 2018 Jul 1.
    • The Challenge of Evaluating Adnexal Masses in Patients With Breast Cancer.
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    • Review
    • Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.
    • Lobo M, López-Tarruella S, Luque S, Lizarraga S, Flores-Sánchez C, Bueno O, Solera J, Jerez Y, Del Val RG, Palomero MI, Cebollero M, Echavarría I, Torres G, Martín M, Márquez-Rodas I.
    • J Genet Couns. 2018 Aug;27(4):854-862. doi: 10.1007/s10897-017-0187-3. Epub 2017 Dec 15.
    • Breast Cancer Genetics Knowledge and Testing Intentions among Nigerian Professional Women.
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    • Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population.
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    • J Med Genet. 2018 Aug;55(8):538-545. doi: 10.1136/jmedgenet-2017-105195. Epub 2018 Apr 5.
    • Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
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    • JCO Precis Oncol. 2018 Jul 25;2018. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.
    • 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.
    • BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.
    • Zoure AA, Slaoui M, Bambara HA, Sawadogo AY, Compaoré TR, Ouédraogo NLM, Mzibri ME, Attaleb M, Traoré SS, Simpore J, Bakri Y.
    • J Public Health Afr. 2018 Jul 6;9(1):663. doi: 10.4081/jphia.2018.663. eCollection 2018 May 21.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Migrating the SNP array-based homologous recombination deficiency measures to next generation sequencing data of breast cancer.
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    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • A systematic review on the frequency of BRCA promoter methylation in breast and ovarian carcinomas of BRCA germline mutation carriers: Mutually exclusive, or not?
    • Vos S, van Diest PJ, Moelans CB.
    • Crit Rev Oncol Hematol. 2018 Jul;127:29-41. doi: 10.1016/j.critrevonc.2018.05.008. Epub 2018 May 14.
    • Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives.
    • Nilsson MP, Emmertz M, Kristoffersson U, Borg Å, Larsson C, Rehn M, Winter C, Saal LH, Brandberg Y, Loman N.
    • J Community Genet. 2018 Jul;9(3):201-208. doi: 10.1007/s12687-017-0341-5. Epub 2017 Oct 30.
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
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    • Letter

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

    Letter:

    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.

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
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    • Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.
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    • Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
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    • Comment
    • Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.
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    • Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
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    • Case report, Review
    • Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.
    • Pasick RJ, Joseph G, Stewart S, Kaplan C, Lee R, Luce J, Davis S, Marquez T, Nguyen T, Guerra C.
    • Am J Public Health. 2016 Oct;106(10):1842-1848. Epub 2016 Aug 23.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • Identification and management of women with a family history of breast cancer: Practical guide for clinicians.
    • Heisey R, Carroll JC.
    • Can Fam Physician. 2016 Oct;62(10):799-803.
    • BRCA2: a grown-up cancer susceptibility gene.
    • Foulkes WD, Sugano K.
    • Endocr Relat Cancer. 2016 Oct;23(10):E1-E3.

    Review:

    BRCA2 functions: from DNA repair to replication fork stabilization.

    Review:

    Defects in homologous recombination repair behind the human diseases: FA and HBOC.

    Review:

    Synthetic lethality: the road to novel therapies for breast cancer.

    Review:

    Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

    Review:

    Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.

    • Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.
    • Milne RL, Antoniou A.
    • Endocr Relat Cancer. 2016 Oct;23(10):T69-T84. Epub 2016 Aug 15.

    Introductory article, Editorial:

    BRCA2: a grown-up cancer susceptibility gene.

    • Why I Won’t Get the Genetic Test for Breast Cancer.
    • Cynthia Graber.
    • Wired. Science. 2016 Sep 27.

    News: Genetic testing has become more affordable and available. Should you get it? (FORCE)

    • Can Pancreatic Cancer Be Inherited?
    • [No author given]
    • Insight. Dana-Farber Cancer Institute. 2016 Aug 17.
    • Adherence Patterns to National Comprehensive Cancer Network Guidelines for Referral of Women With Breast Cancer to Genetics Professionals.
    • Stuckey A, Febbraro T, Laprise J, Wilbur JS, Lopes V, Robison K.
    • Am J Clin Oncol. 2016 Aug;39(4):363-7. doi: 10.1097/COC.0000000000000073.
    • Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers.
    • Vos JR, Oosterwijk JC, Aalfs CM, Rookus MA, Adank MA, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Mensenkamp AR, Jager A, Ausems MG, Mourits MJ, de Bock GH; Hereditary Breast and Ovarian Cancer Research Group Netherlands.
    • Cancer Epidemiol Biomarkers Prev. 2016 Aug;25(8):1251-8. doi: 10.1158/1055-9965.EPI-16-0182. Epub 2016 Jun 8.
    • Genetic Testing in Pancreatic Ductal Adenocarcinoma: Implications for Prevention and Treatment.
    • Peters ML, Tseng JF, Miksad RA.
    • Clin Ther. 2016 Jul;38(7):1622-35. doi: 10.1016/j.clinthera.2016.03.006. Epub 2016 Apr 1.
    • Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment.
    • Foulkes WD, Gore M, McCluggage WG.
    • Gynecol Oncol. 2016 Jul;142(1):190-8. doi: 10.1016/j.ygyno.2016.04.005. Epub 2016 Apr 19.
    • Review
    • Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
    • Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29.
    • Use of a Point-of-Care Tool to Improve Nurse Practitioner BRCA Knowledge.
    • Smania M.
    • Clin J Oncol Nurs. 2016 Jun 1;20(3):327-31. doi: 10.1188/16.CJON.327-331.
    • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Goudie C, Ramos P, Boshari T, Brunet JS, Karnezis AN, Longy M, Knost JA, Saloustros E, McCluggage WG, Stewart CJ, Hendricks WP, Cunliffe H, Huntsman DG, Pautier P, Levine DA, Trent JM, Berchuck A, Hasselblatt M, Foulkes WD.
    • Gynecol Oncol. 2016 Jun;141(3):454-60. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.
    • Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
    • Mitchell G, Schrader KA.
    • Surg Pathol Clin. 2016 Jun;9(2):301-6. doi: 10.1016/j.path.2016.01.009. Epub 2016 Apr 11.
    • Review
    • Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.
    • Karakasis K, Burnier JV, Bowering V, Oza AM, Lheureux S.
    • Front Oncol. 2016 May 11;6:119. doi: 10.3389/fonc.2016.00119. eCollection 2016.
    • Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group.
    • Kerkhofs CH, Spurdle AB, Lindsey PJ, Goldgar DE, Gómez-García EB.
    • Hered Cancer Clin Pract. 2016 Apr 30;14:10. doi: 10.1186/s13053-016-0050-9. eCollection 2016.
    • Podcast: Don't Allow The Wrong Genetic Test To Be Ordered For Your Family.
    • Ellen T. Matloff.
    • My Gene Counsel. 2016 Apr 26.
    • Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
    • Hart SN, Ellingson MS, Schahl K, Vedell PT, Carlson RE, Sinnwell JP, Barman P, Sicotte H, Eckel-Passow JE, Wang L, Kalari KR, Qin R, Kruisselbrink TM, Jimenez RE, Bryce AH, Tan W, Weinshilboum R, Wang L, Kohli M.
    • BMJ Open. 2016 Apr 15;6(4):e010332. doi: 10.1136/bmjopen-2015-010332.
    • Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.
    • Elvira D’Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari.
    • Genet Med. 2016 Apr 14.
    • The Problem of Mammographic Breast Density - The Position of the DEGUM Working Group on Breast Ultrasound.
    • Mueller-Schimpfle MP, Brandenbusch VC, Degenhardt F, Duda V, Madjar H, Mundinger A, Rathmann R, Hahn M.
    • Ultraschall Med. 2016 Apr;37(2):170-175. Epub 2016 Feb 16.
    • Review
    • Implementation of a risk assessment program in a breast-imaging community practice.
    • Destounis S, Arieno A, Morgan R.
    • Breast Cancer. 2016 Mar;23(2):273-8. doi: 10.1007/s12282-014-0569-4. Epub 2014 Oct 7.
    • Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?
    • Seymour HJ, Wainstein T, Macaulay S, Haw T, Krause A.
    • S Afr Med J. 2016 Feb 3;106(3):264-7. doi: 10.7196/SAMJ.2016.v106i3.10285.
    • Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.
    • Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, Farmer M, Friedman S, Garber JE, Khan S, Klein C, Kohlmann W, Kurian A, Litton JK, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Rana H, Reiser G, Robson ME, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wick MJ, Wiesner GL, Dwyer M, Kumar R, Darlow S.
    • J Natl Compr Canc Netw. 2016 Feb;14(2):153-62.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: NCCN High-Risk Breast-Ovarian Guidelines 1.2016

    • Breast Cancer Genetic Counseling: A Surgeon's Perspective.
    • Agnese DM, Pollock RE.
    • Front Surg. 2016 Jan 28;3:4. doi: 10.3389/fsurg.2016.00004. eCollection 2016.
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • Genomic Biomarkers for Breast Cancer Risk.
    • Walsh MF, Nathanson KL, Couch FJ, Offit K.
    • Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1.
    • Review
    • Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers.
    • Appel SJ, Cleiment RJ.
    • J Natl Black Nurses Assoc. 2015 Dec;26(2):17-26.
    • Testing times for BRCA gene carriers.
    • Carlisle D.
    • Nurs Stand. 2015 Nov 11;30(11):17-9. doi: 10.7748/ns.30.11.17.s21.
    • Next-Generation Gene Sequencing: Looking Beyond Hereditary Breast and Ovarian Cancer.
    • Estrada SS, LeGrazie B, McKamie T2, Montgomery S.
    • Oncol Nurs Forum. 2015 Nov 1;42(6):691-4. doi: 10.1188/15.ONF.691-694.
    • A risk management model for familial breast cancer: A new application using Fuzzy Cognitive Map method.
    • Papageorgiou EI, Jayashree Subramanian, Karmegam A, Papandrianos N.
    • Comput Methods Programs Biomed. 2015 Nov;122(2):123-35. doi: 10.1016/j.cmpb.2015.07.003. Epub 2015 Jul 18.
    • Genetic Counselors Help Patients Assess and Address Risk for Cancer, Poor Recovery From Concussion.
    • Joy Larsen Haidle.
    • NSGC Blog. 2015 Oct 23.
    • Contemporary Challenges in Genetic Testing for Breast Cancer: A Collaboration Opportunity for Genetic Counselors and Breast Surgeons.
    • Larsen Haidle J, Whitworth P.
    • Ann Surg Oncol. 2015 Oct;22(10):3203-7. doi: 10.1245/s10434-015-4757-z. Epub 2015 Jul 28.
    • Utility of genetic testing for breast cancer risk.
    • [No author given]
    • The Jackson Laboratory. 2015 Oct.
    • Personalized Medicine Through SNP Testing for Breast Cancer Risk: Clinical Implementation.
    • Howe R, Miron-Shatz T, Hanoch Y, Omer ZB, O'Donoghue C, Ozanne EM.
    • J Genet Couns. 2015 Oct;24(5):744-51. doi: 10.1007/s10897-014-9803-7. Epub 2014 Dec 18.
    • Why have ovarian cancer mortality rates declined? Part III. Prospects for the future.
    • Sopik V, Rosen B, Giannakeas V, Narod SA.
    • Gynecol Oncol. 2015 Sep;138(3):757-61. doi: 10.1016/j.ygyno.2015.06.019. Epub 2015 Jun 16.
    • Review
    • Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing.
    • Cohn J, Blazey W, Tegay D, Harper B, Koehler S, Laurent B, Chan V, Jung MK, Krishnamachari B.
    • J Cancer Educ. 2015 Sep;30(3):573-9. doi: 10.1007/s13187-014-0724-9.
    • Can the breast screening appointment be used to provide risk assessment and prevention advice?
    • Evans DG, Howell A.
    • Breast Cancer Res. 2015 Jul 9;17(1):84. doi: 10.1186/s13058-015-0595-y.
    • Comparative microRNA profiling of sporadic and BRCA1 associated basal-like breast cancers.
    • Yan M, Shield-Artin K, Byrne D, Deb S, Waddell N; kConFab Investigators, kConFab, Haviv I, Fox SB.
    • BMC Cancer. 2015 Jul 8;15:506. doi: 10.1186/s12885-015-1522-4.
    • Feelings of Women With Strong Family Histories Who Subsequent to Their Breast Cancer Diagnosis Tested BRCA Positive.
    • Joseph M, Rab F, Panabaker K, Nisker J.
    • Int J Gynecol Cancer. 2015 May;25(4):584-92. doi: 10.1097/IGC.0000000000000403.
    • Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.
    • Massink MP, Kooi IE, van Mil SE, Jordanova ES, Ameziane N, Dorsman JC, van Beek DM, van der Voorn JP, Sie D, Ylstra B, van Deurzen CH, Martens JW, Smid M, Sieuwerts AM, de Weerd V, Foekens JA, van den Ouweland AM, van Dyk E, Nederlof PM, Waisfisz Q, Meijers-Heijboer H.
    • Mol Oncol. 2015 Apr;9(4):877-88. doi: 10.1016/j.molonc.2014.12.012. Epub 2015 Jan 13.
    • [Recommendation for genetic testing in patients suffering from gynecological malignancy].
    • Zikán M.
    • Ceska Gynekol. 2015 Spring;80(2):97-103.
    • Review, [Article in Czech]
    • Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.
    • Wang C, Zhang J, Wang Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2015 Mar;26(3):523-8. doi: 10.1093/annonc/mdu559. Epub 2014 Dec 5.
    • Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis.
    • Saam J, Moyes K, Landon M, Williams K, Kaldate RR, Arnell C, Wenstrup R.
    • Oncology. [2015 Mar;]88(4):226-33. doi: 10.1159/000368836. Epub 2014 Dec 11.
    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • 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
    • American BRCA Outcomes and Utilization of Testing (ABOUT) Study: A Pragmatic Research Model that Incorporates Personalized Medicine/Patient-Centered Outcomes in a Real World Setting.
    • Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Teten RT, Kondoff MR, Molina AD, Abdollahian M, Brand L, Walker GS, Sutphen R.
    • J Genet Couns. 2015 Feb;24(1):18-28. doi: 10.1007/s10897-014-9750-3. Epub 2014 Sep 12.
    • Yes, breast surgeons may provide breast cancer genetic assessment and testing.
    • Kaufman CS.
    • Ann Surg Oncol. 2015 Jan;22(1):1-3. doi: 10.1245/s10434-014-4124-5. Epub 2014 Oct 8.

    Comment / Editorial:

    Can breast surgeons provide breast cancer genetic testing? An American Society of Breast Surgeons survey.

    • Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.
    • Bellcross CA, Peipins LA, McCarty FA, Rodriguez JL, Hawkins NA, Hensley Alford S, Leadbetter S.
    • Genet Med. 2015 Jan;17(1):43-50. doi: 10.1038/gim.2014.68. Epub 2014 Jun 19.
    • Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions.
    • Lancaster JM, Powell CB, Chen LM, Richardson DL; SGO Clinical Practice Committee.
    • Gynecol Oncol. 2015 Jan;136(1):3-7. doi: 10.1016/j.ygyno.2014.09.009. Epub 2014 Sep 17.
    • Practice Guideline, SGO Position Statement
    • The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil.
    • Lajus TB.
    • Rev Saude Publica. 2015;49:71. doi: 10.1590/S0034-8910.2015049005988. Epub 2015 Oct 13.
    • A primary care audit of familial risk in patients with a personal history of breast cancer.
    • Nathan P, Ahluwalia A, Chorley W.
    • Fam Cancer. 2014 Dec;13(4):591-4. doi: 10.1007/s10689-014-9737-0.
    • Clinical application of micronucleus test: a case-control study on the prediction of breast cancer risk/susceptibility.
    • Bolognesi C, Bruzzi P, Gismondi V, Volpi S, Viassolo V, Pedemonte S, Varesco L.
    • PLoS One. 2014 Nov 21;9(11):e112354. doi: 10.1371/journal.pone.0112354. eCollection 2014.
    • Combined microRNA and ER expression: a new classifier for familial and sporadic breast cancer patients.
    • Danza K, De Summa S, Pilato B, Carella M, Palumbo O, Popescu O, Paradiso A, Pinto R, Tommasi S.
    • J Transl Med. 2014 Nov 19;12(1):319. doi: 10.1186/s12967-014-0319-6.
    • The molecular significance of methylated BRCA1 promoter in white blood cells of cancer-free females.
    • Al-Moghrabi N, Nofel A, Al-Yousef N, Madkhali S, Bin Amer SM, Alaiya A, Shinwari Z, Al-Tweigeri T, Karakas B, Tulbah A, Aboussekhra A.
    • BMC Cancer. 2014 Nov 17;14:830. doi: 10.1186/1471-2407-14-830.
    • Hereditary breast and ovarian cancer syndrome: Considering the complexities.
    • Senter L.
    • Curr Probl Cancer. 2014 Nov-Dec;38(6):226-34. doi: 10.1016/j.currproblcancer.2014.10.003. Epub 2014 Oct 31.
    • Current Guidance for Brca Mutation Testing in Ovarian Cancer Patients.
    • Ehlken B, Driedger J, Hofmann-Xu L, Paulus G, Berger K, de Moor C, Schroeder C, Clune J, Tyczynski J.
    • Value Health. 2014 Nov;17(7):A663. doi: 10.1016/j.jval.2014.08.2439. Epub 2014 Oct 26.
    • Conference abstract
    • Genetics and BRCA in Primary Care
    • Katherine Kolor
    • Medscape Oncology, CDC Expert Commentary, 2014 Oct 13
    • From Autism to Breast Cancer to Prenatal Genetic Testing, Genetic Counselors Can Help
    • Jennifer Malone Hoskovec
    • NSGC blog, 2014 Sep 20
    • 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
    • Screening an Asymptomatic Person for Genetic Risk.
    • [No authors listed]
    • N Engl J Med. 2014 Jun 19;370(25):2442-2445.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: New England Journal of Medicine article/discussion on Screening an Asymptomatic Person for Genetic Risk

    • USPSTF, ASCO Issue More Guidance on Genetic Testing Based on Family History
    • Surabhi Dangi-Garimella
    • OncLive, 2014 Jun 11
    • Incorporating genetic testing ancestry results into medical decisions.
    • Farrell RM, Pederson H, Padia S.
    • Virtual Mentor. 2014 Jun 1;16(6):428-33. doi: 10.1001/virtualmentor.2014.16.06.ecas2-1406.
    • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
    • Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL, Stadler ZK, Kauff ND, Offit K, Robson ME, Zhang L.
    • Breast Cancer Res Treat. 2014 Jun;145(3):625-34. doi: 10.1007/s10549-014-2987-6. Epub 2014 May 14.
    • Familial breast cancer genetic testing in the West of Ireland.
    • McVeigh TP, Irwin R, Cody N, Miller N, McDevitt T, Sweeney KJ, Green A, Kerin MJ.
    • Ir J Med Sci. 2014 Jun;183(2):199-206. doi: 10.1007/s11845-013-0990-2. Epub 2013 Jul 26.
    • Short-term outcomes of the implementation of a computer-based breast cancer risk assessment program during screening mammography.
    • Ray D, Grumet S, Lagmay-Fuentes P, Jacob L, Terzo A, Puma A, Hwang S.
    • J Community Support Oncol. 2014 Jun;12(6):209-11.
    • Perceived versus objective breast cancer risk in diverse women.
    • Fehniger J, Livaudais-Toman J, Karliner L, Kerlikowske K, Tice JA, Quinn J, Ozanne E, Kaplan CP.
    • J Womens Health (Larchmt). 2014 May;23(5):420-7. doi: 10.1089/jwh.2013.4516. Epub 2013 Dec 28.
    • Tools of the trade: individualized breast cancer risk assessment.
    • Millstine D, David P, Pruthi S.
    • J Womens Health (Larchmt). 2014 May;23(5):434-6. doi: 10.1089/jwh.2014.4761. Epub 2014 Apr 7.
    • Patient-reported hereditary breast and ovarian cancer in a primary care practice.
    • Quillin JM, Krist AH, Gyure M, Corona R, Rodriguez V, Borzelleca J, Bodurtha JN.
    • J Community Genet. 2014 Apr;5(2):179-83. doi: 10.1007/s12687-013-0161-1. Epub 2013 Jul 20.

    Press: Few women at high-risk for hereditary breast and ovarian cancer receive genetic counseling (EurekAlert!)

    • Promising outcomes of screening for pancreatic cancer by genetic testing and endoscopic ultrasound.
    • Sud A, Wham D, Catalano M, Guda NM.
    • Pancreas. 2014 Apr;43(3):458-61. doi: 10.1097/MPA.0000000000000052.
    • Inadequate Family History Assessment by Oncologists is an Important Physician Barrier to Referral for Hereditary Breast Cancer Evaluation.
    • Ow SG, Yong YF, Chieng WS, Phyu PS, Lee SC.
    • Clin Oncol (R Coll Radiol). 2014 Mar;26(3):174-5. doi: 10.1016/j.clon.2013.11.029. Epub 2014 Jan 4.
    • Letter
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications.
    • Yiannakopoulou E.
    • Cell Oncol (Dordr). 2014 Feb;37(1):1-8. doi: 10.1007/s13402-013-0158-0. Epub 2013 Dec 4.
    • London hospital widens access to genetic tests for ovarian cancer.
    • Arie S.
    • BMJ. 2014 Jan 28;348:g1179. doi: 10.1136/bmj.g1179.
    • News
    • New genetic testing pathway for cancer patients
    • Philippa Brice
    • PHG Foundation, 2014 Jan 24
    • Biomarkers and endosalpingiosis in the ovarian and tubal microenvironment of women at high-risk for pelvic serous carcinoma.
    • Gruessner C, Gruessner A, Glaser K, Abushahin N, Laughren C, Zheng W, Chambers SK.
    • Am J Cancer Res. 2014 Jan 15;4(1):61-72. eCollection 2014.
    • In the wake of Angelina - managing a family history of breast cancer.
    • Dunlop K, Kirk J, Tucker K.
    • Aust Fam Physician. 2014 Jan-Feb;43(1):76-8.
    • How to spot heritable breast cancer: a primary care physician's guide.
    • Smith M, Mester J, Eng C.
    • Cleve Clin J Med. 2014 Jan;81(1):31-40. doi: 10.3949/ccjm.81a.13051.
    • Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis.
    • Tun N, Villani G, Ong K, Yoe L, Bo Z.
    • Clin Genet. 2014 Jan;85(1):43-8. doi: 10.1111/cge.12270. Epub 2013 Oct 3.
    • Meta-Analysis
    • Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities.
    • Nippert I, Julian-Reynier C, Harris H, Evans G, van Asperen CJ, Tibben A, Schmidtke J.
    • J Community Genet. 2014 Jan;5(1):69-79. doi: 10.1007/s12687-013-0173-x. Epub 2013 Dec 3.
    • A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.
    • Fostira F, Tsoukalas N, Konstantopoulou I, Georgoulias V, Christophyllakis C, Yannoukakos D.
    • Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10.
    • Identification, Evaluation, and Treatment of Patients with Hereditary Cancer Risk within the United States.
    • Cragun D, Pal T.
    • ISRN Oncol. 2013 Dec 22;2013:260847. doi: 10.1155/2013/260847. eCollection 2013.
    • Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes.
    • Sie AS, Prins JB, Spruijt L, Kets CM, Hoogerbrugge N.
    • Fam Cancer. 2013 Dec;12(4):675-82. doi: 10.1007/s10689-013-9644-9.
    • Ask Well: Genetic Testing for Breast Cancer.
    • Roni Caryn Rabin.
    • New York Times. Ask Well. 2013 Nov 27.
    • Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study.
    • McCarthy AM, Bristol M, Fredricks T, Wilkins L, Roelfsema I, Liao K, Shea JA, Groeneveld P, Domchek SM, Armstrong K.
    • Cancer. 2013 Oct 15;119(20):3596-3603. doi: 10.1002/cncr.28268. Epub 2013 Jul 16.
    • Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a university gynecologic oncology clinic.
    • Petzel SV, Vogel RI, Bensend T, Leininger A, Argenta PA, Geller MA.
    • J Genet Couns. 2013 Oct;22(5):662-73. doi: 10.1007/s10897-013-9598-y. Epub 2013 May 16.
    • Prognosis of probability of BRCA1 and BRCA2 mutations carriage in women with compromised family history of breast and/or ovarian cancer.
    • Rybchenko LA, Bychkova AM, Skyban GV, Klymenko SV.
    • Probl Radiac Med Radiobiol. 2013 Sep;18:253-260.
    • Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.
    • Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C.
    • Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24.
    • Keeping it simple: Genetics referrals for all invasive serous ovarian cancers.
    • Demsky R, McCuaig J, Maganti M, Murphy KJ, Rosen B, Armel SR.
    • Gynecol Oncol. 2013 Aug;130(2):329-33. doi: 10.1016/j.ygyno.2013.05.003. Epub 2013 May 22.
    • Population-based, risk-stratified genetic testing for ovarian cancer risk: a focus group study.
    • Meisel SF, Side L, Fraser L, Gessler S, Wardle J, Lanceley A.
    • Public Health Genomics. [2013 Aug;];16(4):184-91. doi: 10.1159/000352028. Epub 2013 Jul 4.
    • Improving the management of people with a family history of breast cancer in primary care: before and after study of audit-based education.
    • Rafi I, Chowdhury S, Chan T, Jubber I, Tahir M, de Lusignan S.
    • BMC Fam Pract. 2013 Jul 24;14:105. doi: 10.1186/1471-2296-14-105.
    • Using a state cancer registry to recruit young breast cancer survivors and high-risk relatives: protocol of a randomized trial testing the efficacy of a targeted versus a tailored intervention to increase breast cancer screening.
    • Katapodi MC, Northouse LL, Schafenacker AM, Duquette D, Duffy SA, Ronis DL, Anderson B, Janz NK, McLosky J, Milliron KJ, Merajver SD, Duong LM, Copeland G.
    • BMC Cancer. 2013 Mar 1;13:97. doi: 10.1186/1471-2407-13-97.
    • Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.
    • Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL, Walsh T, Swisher EM.
    • Gynecol Oncol. 2013 Mar;128(3):483-7. doi: 10.1016/j.ygyno.2012.12.015. Epub 2012 Dec 19.
    • BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas.
    • Garg K, Levine DA, Olvera N, Dao F, Bisogna M, Secord AA, Berchuck A, Cerami E, Schultz N, Soslow RA.
    • Am J Surg Pathol. 2013 Jan;37(1):138-46. doi: 10.1097/PAS.0b013e31826cabbd.
    • HOX gene methylation status analysis in patients with hereditary breast cancer.
    • Pilato B, Pinto R, De Summa S, Lambo R, Paradiso A, Tommasi S.
    • J Hum Genet. 2013 Jan;58(1):51-3. doi: 10.1038/jhg.2012.118. Epub 2012 Oct 11.
    • Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.
    • Rouault A, Banneau G, Macgrogan G, Jones N, Elarouci N, Barouk-Simonet E, Venat L, Coupier I, Letouzé E, de Reyniès A, Bonnet F, Iggo R, Sévenet N, Longy M.
    • PLoS One. 2012;7(12):e52079. doi: 10.1371/journal.pone.0052079. Epub 2012 Dec 21.
    • BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
    • Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T; German Consortium for Hereditary Breast and Ovarian Cancer.
    • Clin Genet. 2012 Nov;82(5):478-83. doi: 10.1111/j.1399-0004.2011.01788.x. Epub 2011 Oct 19.
    • Tissue-based predictors of germ-line BRCA1 mutations: implications for triaging of genetic testing.
    • de la Cruz J, Andre F, Harrell RK, Bassett RL Jr, Arun B, Mathieu MC, Delaloge S, Gilcrease MZ.
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    • Legal liability and the uncertain nature of risk prediction: the case of breast cancer risk prediction models.
    • Black L, Knoppers BM, Avard D, Simard J.
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    • Genetic risk assessments in individuals at high risk for inherited breast cancer in the breast oncology care setting.
    • Pal T, Vadaparampil ST.
    • Cancer Control. 2012 Oct;19(4):255-66.
    • A multidisciplinary clinic for individualizing management of patients at increased risk for breast and gynecologic cancer.
    • Engel NJ, Gordon P, Thull DL, Dudley B, Herstine J, Jankowitz RC, Zorn KK.
    • Fam Cancer. 2012 Sep;11(3):419-27. doi: 10.1007/s10689-012-9530-x.
    • Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women.
    • Mays D, Sharff ME, Demarco TA, Williams B, Beck B, Sheppard VB, Peshkin BN, Eng-Wong J, Tercyak KP.
    • Fam Cancer. 2012 Sep;11(3):493-502. doi: 10.1007/s10689-012-9541-7.
    • Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry.
    • Dite GS, Makalic E, Schmidt DF, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2012 Aug 28;14(4):R122. doi: 10.1186/bcr3248.
    • Prediction of BRCA1 germline mutation status in women with ovarian cancer using morphology-based criteria: identification of a BRCA1 ovarian cancer phenotype.
    • Fujiwara M, McGuire VA, Felberg A, Sieh W, Whittemore AS, Longacre TA.
    • Am J Surg Pathol. 2012 Aug;36(8):1170-7. doi: 10.1097/PAS.0b013e31825d9b8d.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • Hereditary breast cancer: practical pursuit for clinical translation.
    • Lynch HT, Snyder C, Lynch J.
    • Ann Surg Oncol. 2012 Jun;19(6):1723-31. doi: 10.1245/s10434-012-2256-z. Epub 2012 Mar 21.
    • Review
    • Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers.
    • Drohan B, Roche CA, Cusack JC Jr, Hughes KS.
    • Ann Surg Oncol. 2012 Jun;19(6):1732-7. doi: 10.1245/s10434-012-2257-y. Epub 2012 Mar 17.
    • Review
    • Efficient identification and referral of low-income women at high risk for hereditary breast cancer: a practice-based approach.
    • Joseph G, Kaplan C, Luce J, Lee R, Stewart S, Guerra C, Pasick R.
    • Public Health Genomics. [2012 Apr;]15(3-4):172-80. doi: 10.1159/000336419. Epub 2012 Apr 4.
    • Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.
    • Kohut K, D'Mello L, Bancroft EK, Thomas S, Young MA, Myhill K, Shanley S, Briggs BH, Newman M, Saraf IM, Cox P, Scambler S, Wagman L, Wyndham MT, Eeles RA, Ferris M.
    • Fam Cancer. 2012 Mar;11(1):107-13. doi: 10.1007/s10689-011-9482-6.
    • Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers.
    • Hopper JL, Jenkins MA, Dowty JG, Dite GS, Apicella C, Keogh L, Win AK, Young JP, Buchanan D, Walsh MD, Rosty C, Baglietto L, Severi G, Phillips KA, Wong EM, Dobrovic A, Waring P, Winship I, Ramus SJ, Giles GG, Southey MC.
    • Pathology. 2012 Feb;44(2):89-98. doi: 10.1097/PAT.0b013e32834e8e5b.
    • Review
    • Will Chinese ovarian cancer patients benefit from knowing the BRCA2 mutation status?
    • Liu GY, Zhang W.
    • Chin J Cancer. 2012 Jan;31(1):1-4. doi: 10.5732/cjc.011.10432. Epub 2011 Dec 16.
    • Familial breast cancer registry program in patients referred to the cancer institute of iran.
    • Sabokbar T, Khajeh E, Taghdiri F, Peyghambari V, Shirkoohi R.
    • Asian Pac J Cancer Prev. 2012;13(6):2675-9.