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

Assessment of various factors to determine who is at risk for or who should be considered to be tested for mutations for hereditary cancers

List was last updated on Dec 5, 2019 @ 4:08 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]
    • 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.
    • All For BRCA, BRCA For All?
    • Resta R.
    • The DNA Exchange. 2019 Oct 7.
    • 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.
    • Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian.
    • Daly MB.
    • Can J Urol. 2019 Oct;26(5S2):29-30.
    • 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]
    • Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
    • Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato AG, Palli D, Caligo MA.
    • Breast Cancer Res Treat. 2019 Sep 11. doi: 10.1007/s10549-019-05429-z. [Epub ahead of print]
    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
    • Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U.
    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • 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]
    • 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]
    • Management of ovarian cancer risk in women with BRCA1/2 pathogenic variants.
    • Walker M, Jacobson M, Sobel M.
    • CMAJ. 2019 Aug 12;191(32):E886-E893. doi: 10.1503/cmaj.190281.
    • 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.

    • 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]
    • Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
    • Bashford MT, Kohlman W, Everett J, Parrott A, Pollin TI; Practice Guidelines Committee of the National Society of Genetic Counselors and the Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics.
    • Genet Med. 2019 Jul 23. doi: 10.1038/s41436-019-0586-y. [Epub ahead of print]

    Guidelines:

    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    • 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]
    • 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]
    • A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.
    • Lang SH, Swift SL, White H, Misso K, Kleijnen J, Quek RGW.
    • Int J Oncol. 2019 Jul 16. doi: 10.3892/ijo.2019.4842. [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.
    • BRCA germline mutation test for all woman with ovarian cancer?
    • Paradiso AV, Digennaro M, Patruno M, De Summa S, Tommasi S, Berindan-Neagoe I.
    • BMC Cancer. 2019 Jun 28;19(1):641. doi: 10.1186/s12885-019-5829-4.
    • Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?
    • Copur MS, Jonglertham P, Zusag T.
    • J Clin Oncol. 2019 Jun 27:JCO1900064. doi: 10.1200/JCO.19.00064. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
    • Taylor A, Tischkowitz M.
    • J Clin Oncol. 2019 Jun 27:JCO1900122. doi: 10.1200/JCO.19.00122. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
    • Beck AC, Yuan H, Liao J, Imperiale P, Shipley K, Erdahl LM, Sugg SL, Weigel RJ, Lizarraga IM.
    • Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]
    • Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
    • Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY.
    • J Mol Diagn. 2019 Jun 10. pii: S1525-1578(18)30334-9. doi: 10.1016/j.jmoldx.2019.03.001. [Epub ahead of print]

    Press: Multi-Gene Panel Testing Finds Pathogenic Variant Carriers Missed Under Current Testing Guidelines. (GenomeWeb)

    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • 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.
    • 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.
    • 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.
    • 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]
    • Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'.
    • Miller KD
    • Medscape. Medscape Oncology. 2019 Apr 18.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    Original research:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    • Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.
    • Peters MLB, Stobie L, Dudley B, Karloski E, Allen K, Speare V, Dolinsky JS, Tian Y, DeLeonardis K, Krejdovsky J, Button A, Lim C, Borazanci E, Brand R, Tung N.
    • Cancer. 2019 Apr 12. doi: 10.1002/cncr.32077. [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]
    • Direct Genetics Referral Pathway for High-Grade Serous Ovarian Cancer Patients: The "Opt-Out" Process.
    • McGee J, Peart TM, Foley N, Bertrand M, Prefontaine M, Sugimoto A, Ettler H, Welch S, Panabaker K.
    • J Oncol. 2019 Apr 2;2019:6029097. doi: 10.1155/2019/6029097. eCollection 2019.
    • 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.
    • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
    • Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0.
    • 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.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • 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.
    • Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
    • Li J, Wen WX, Eklund M, Kvist A, Eriksson M, Christensen HN, Torstensson A, Bajalica-Lagercrantz S, Dunning AM, Decker B, Allen J, Luccarini C, Pooley K, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Borg Å, Grönberg H, Czene K.
    • Int J Cancer. 2019 Mar 1;144(5):1195-1204. doi: 10.1002/ijc.31841. Epub 2018 Nov 9.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • Mainstreamed genetic testing for women with ovarian cancer: first-year experience.
    • Rahman B, Lanceley A, Kristeleit RS, Ledermann JA, Lockley M, McCormack M, Mould T, Side L.
    • J Med Genet. 2019 Mar;56(3):195-198. doi: 10.1136/jmedgenet-2017-105140. Epub 2018 Mar 13.
    • BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.
    • Liu Y, Ide Y, Inuzuka M, Tazawa S, Kanada Y, Matsunaga Y, Kuwayama T, Sawada T, Akashi-Tanaka S, Nakamura S.
    • 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.
    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.
    • Fulton AJ, Lamarca A, Nuttall C, McCallum L, Pihlak R, O'Reilly D, Lalloo F, McNamara MG, Hubner RA, Clancy T, Valle JW.
    • World J Gastrointest Oncol. 2019 Feb 15;11(2):102-116. doi: 10.4251/wjgo.v11.i2.102.
    • Trends in BRCA Test Utilization in an Integrated Health System, 2005-2015.
    • Knerr S, Bowles EJA, Leppig KA, Buist DSM, Gao H, Wernli KJ.
    • J Natl Cancer Inst. 2019 Feb 8. doi: 10.1093/jnci/djz008. [Epub ahead of print]

    Editorial:

    Persistent underutilization of BRCA1/2 testing suggest the need for new approaches to genetic testing delivery.

    • Concordance with BRCA1/2 testing guidelines among women in The Health of Women (HOW) Study®.
    • Silver MI, Klein W, Samimi G, Minasian L, Loud J, Roberts MC.
    • Breast Cancer Res Treat. 2019 Feb;173(3):719-726. doi: 10.1007/s10549-018-5035-0. Epub 2018 Nov 9.
    • Guidelines-Based Cancer Risk Assessment.
    • Forman A, Schwartz S.
    • Semin Oncol Nurs. 2019 Feb;35(1):34-46. doi: 10.1016/j.soncn.2018.12.010. Epub 2019 Jan 22.
    • BRCA mutation screening and patterns among high-risk Lebanese subjects.
    • Farra C, Dagher C, Badra R, Hammoud MS, Alameddine R, Awwad J, Seoud M, Abbas J, Boulos F, El Saghir N, Mukherji D.
    • Hered Cancer Clin Pract. 2019 Jan 18;17:4. doi: 10.1186/s13053-019-0105-9. 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.
    • 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.
    • The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
    • Pilarski R.
    • Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
    • Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.
    • Ryu JM, Choi HJ, Kim I, Nam SJ, Kim SW, Yu J, Lee SK, Choi DH, Park YH, Kim JW, Seo JS, Park JH, Lee JE, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2019 Jan;173(2):385-395. doi: 10.1007/s10549-018-5015-4. Epub 2018 Oct 22.
    • 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.
    • Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
    • Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG.
    • Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.
    • Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).
    • Bellcross C, Hermstad A, Tallo C, Stanislaw C.
    • Genet Med. 2019 Jan;21(1):181-184. doi: 10.1038/s41436-018-0020-x. Epub 2018 May 8.
    • 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.
    • AMIA Annu Symp Proc. 2018 Dec 5;2018:970-978. eCollection 2018.
    • [Genetic profiling in the diagnosis of hereditary prostate cancer: Where do we stand?]
    • Boehm K, Thomas C, Tsaur I.
    • Aktuelle Urol. 2018 Dec;49(6):525-529. doi: 10.1055/a-0755-7360. Epub 2018 Dec 6.
    • Review, [Article in German]
    • Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.
    • Fortuno C, James PA, Spurdle AB.
    • Hum Mutat. 2018 Dec;39(12):1764-1773. doi: 10.1002/humu.23656. Epub 2018 Oct 3.
    • Review
    • 9 Myths About Men and Hereditary Cancer.
    • [No author given]
    • My Gene Counsel. 2018 Nov 19.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
    • Cox DM, Nelson KL, Clytone M, Collins DL.
    • Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
    • Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting.
    • DeFrancesco MS, Waldman RN, Pearlstone MM, Karanik D, Bernhisel R, Logan J, Alico L, Adkins RT.
    • Obstet Gynecol. 2018 Nov;132(5):1121-1129. doi: 10.1097/AOG.0000000000002916.
    • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
    • Lowery MA, Wong W, Jordan EJ, Lee JW, Kemel Y, Vijai J, Mandelker D, Zehir A, Capanu M, Salo-Mullen E, Arnold AG, Yu KH, Varghese AM, Kelsen DP, Brenner R, Kaufmann E, Ravichandran V, Mukherjee S, Berger MF, Hyman DM, Klimstra DS, Abou-Alfa GK, Tjan C, Covington C, Maynard H, Allen PJ, Askan G, Leach SD, Iacobuzio-Donahue CA, Robson ME, Offit K, Stadler ZK, O'Reilly EM.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1067-1074. doi: 10.1093/jnci/djy024.
    • Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
    • Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL.
    • Ann Surg Oncol. 2018 Oct;25(10):2925-2931. doi: 10.1245/s10434-018-6621-4. Epub 2018 Jul 11.
    • Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
    • Rust K, Spiliopoulou P, Tang CY, Bell C, Stirling D, Phang T, Davidson R, Mackean M, Nussey F, Glasspool RM, Reed NS, Sadozye A, Porteous M, McGoldrick T, Ferguson M, Miedzybrodzka Z, McNeish IA, Gourley C.
    • BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.

    Commentary:

    Population based testing of non-mucinous epithelial ovarian cancer in Scotland

    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
    • Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, Yang L, Jiao Z, Luo J, Zi Y, Sun G, Zhang J, Shi Y, Liu J.
    • 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.
    • Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.
    • BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

    Research news: Can population-based DNA sequencing identify those at risk for hereditary cancers? (FORCE. XRAYS.)

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • 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.
    • BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer.
    • Gross AL, Blot WJ, Visvanathan K.
    • JAMA. 2018 Aug 14;320(6):597-598. doi: 10.1001/jama.2018.8258.
    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • 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.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • 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.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Next generation sequencing is informing phenotype: a TP53 example.

    • 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
    • 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.
    • Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.
    • Wei H, Wang M, Ou J, Jiang W, Tian F, Sheng Y, Li H, Xu H, Zhang R, Guan A, Wang C, Jiang H, Ren Y, He J, Liu J, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu C, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Jing R, Zeng Z, Zhang M, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan L, Zhang Y, Yang X, Li J, Chen C, Jiang J.
    • Oncol Lett. 2018 Jun;15(6):9420-9428. doi: 10.3892/ol.2018.8538. Epub 2018 Apr 18.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.
    • Kaur RP, Shafi G, Benipal RPS, Munshi A.
    • Med Oncol. 2018 Apr 26;35(6):81. doi: 10.1007/s12032-018-1143-2.
    • Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
    • Dudley B, Karloski E, Monzon FA, Singhi AD, Lincoln SE, Bahary N, Brand RE.
    • Cancer. 2018 Apr 15;124(8):1691-1700. doi: 10.1002/cncr.31242. Epub 2018 Jan 23.
    • BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer.
    • Norum J, Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Undlien DE, Schlichting E, Mæhle L.
    • ESMO Open. 2018 Apr 13;3(3):e000328. doi: 10.1136/esmoopen-2018-000328. eCollection 2018.
    • Practical consensus recommendation on when to do BRCA testing.
    • Parikh PM, Wadhwa J, Minhas S, Gupta A, Mittal S, Ranjan S, Mehta P, Singh R, Kataria SP, Salim S, Ahmed M, Aggarwal S.
    • South Asian J Cancer. 2018 Apr-Jun;7(2):106-109. doi: 10.4103/sajc.sajc_112_18.
    • Practical consensus recommendations for neo-adjuvant chemotherapy in triple negative breast cancer.
    • Bhattacharyya GS, Walia M, Nandi M, Murli A, Salim S, Rajpurohit S, Shinde S, Aggarwal S, Parikh PM.
    • South Asian J Cancer. 2018 Apr-Jun;7(2):156-158. doi: 10.4103/sajc.sajc_126_18.
    • Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.
    • Patel S, Legood R, Evans DG, Turnbull C, Antoniou AC, Menon U, Jacobs I, Manchanda R.
    • Am J Obstet Gynecol. 2018 Apr;218(4):431.e1-431.e12. doi: 10.1016/j.ajog.2017.12.221. Epub 2017 Dec 26.
    • Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E.
    • Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9.
    • Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort.
    • Littlejohn LA, Gibbs J, Jordan LB, Miedzybrodzka ZH, Bell C, Goudie D, Dunlop J, Berg JN.
    • Eur J Hum Genet. 2018 Apr;26(4):599-603. doi: 10.1038/s41431-017-0072-4. Epub 2018 Jan 15.
    • Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.
    • Herold N, Wappenschmidt B, Markiefka B, Keupp K, Kröber S, Hahnen E, Schmutzler R, Rhiem K.
    • Oncol Lett. 2018 Apr;15(4):4093-4096. doi: 10.3892/ol.2018.7836. Epub 2018 Jan 22.
    • Clinicopathological and Molecular Study of Triple-Negative Breast Cancer in Algerian Patients.
    • Gaceb H, Cherbal F, Bakour R, Ould-Rouis A, Mahfouf H.
    • Pathol Oncol Res. 2018 Apr;24(2):297-308. doi: 10.1007/s12253-017-0242-2. Epub 2017 May 6.
    • Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
    • Isaacsson Velho P, Silberstein JL, Markowski MC, Luo J, Lotan TL, Isaacs WB, Antonarakis ES.
    • Prostate. 2018 Apr;78(5):401-407. doi: 10.1002/pros.23484. Epub 2018 Jan 25.
    • Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
    • Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS.
    • BMC Cancer. 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5.
    • FDA approves breast cancer test kits: how useful are they?
    • [No author given]
    • FORCE. XRAYS. 2018 Mar 19.

    FDA News Release: FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes (U.S. Food & Drug Administration)

    Press: Oncology Community Sees Potential for Patient Harm in FDA OK of 23andMe BRCA Test (GenomeWeb)

    Press: FDA Authorizes 23andMe DTC Test Report for Three BRCA Mutations (GenomeWeb)

    • Medical Strategy or Marketing Strategy?
    • Resta R.
    • The DNA Exchange. 2018 Mar 18.
    • Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
    • Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.
    • First DTC Test for Some BRCA Mutations Authorized by FDA.
    • Nelson R.
    • Medscape. Medscape Medical News. 2018 Mar 7.
    • FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.
    • [No author given]
    • U.S. Food & Drug Administration. FDA News Release. 2018 Mar 6.

    Blog post, News: NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations (NSGC Blog)

    News: FDA approves breast cancer test kits: how useful are they? (FORCE. XRAYS)

    • Hereditary Cancers in Gynecology: What Physicians Should Know About Genetic Testing, Screening, and Risk Reduction.
    • Ring KL, Modesitt SC.
    • Obstet Gynecol Clin North Am. 2018 Mar;45(1):155-173. doi: 10.1016/j.ogc.2017.10.011.
    • Review
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
    • Abdel-Razeq H, Al-Omari A, Zahran F, Arun B.
    • BMC Cancer. 2018 Feb 6;18(1):152. doi: 10.1186/s12885-018-4079-1.
    • BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
    • Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N.
    • Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.
    • The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.
    • Bernstein-Molho R, Laitman Y, Schayek H, Reish O, Lotan S, Haim S, Zidan J, Friedman E.
    • Breast Cancer Res Treat. 2018 Feb;167(3):697-702. doi: 10.1007/s10549-017-4551-7. Epub 2017 Oct 30.
    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
    • Ecancermedicalscience. 2018 Jan 30;12:804. doi: 10.3332/ecancer.2018.804. eCollection 2018.
    • Homologous Recombination Deficiency in Patients With Pancreatic Ductal Adenocarcinoma and Response to Chemotherapy.
    • Shahda S, Timms KM, Ibrahim AA, Reid JE, Cramer HM, Radovich M, Ibrahim S, Allen B, O’Neil BH
    • JCO Precis Oncol. doi: 10.1200/PO.17.00087. Epub 2017 Jan 19.

    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Reflex Testing for Germline BRCA1, BRCA2, PALB2, and ATM Mutations in Pancreatic Cancer: Mutation Prevalence and Clinical Outcomes From Two Canadian Research Registries.
    • Smith AL, Wong C, Cuggia A, Borgida A, Holter S, Hall A, Connor AA, Bascuñana C, Asselah J, Bouganim N, Poulin V, Jolivet J, Vafiadis P, Le P, Martel G, Lemay F, Beaudoin A, Rafatzand K, Chaudhury P, Barkun J, Metrakos P, Marcus V, Omeroglu A, Chong G, Akbari MR, Foulkes WD, Gallinger S, Zogopoulos G.
    • JCO Precis Oncol. doi: 10.1200/PO.17.00098. Epub 2017 Jan 19.

    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Retrospective Survival Analysis of Patients With Advanced Pancreatic Ductal Adenocarcinoma and Germline BRCA or PALB2 Mutations.
    • Reiss KA, Yu S, Judy R, Symecko H, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. doi: 10.1200/PO.17.00152. Epub 2018 Jan 19.

    Free full text: Retrospective Survival Analysis of Patients With Advanced Pancreatic Ductal Adenocarcinoma and Germline BRCA or PALB2 Mutations. (Medscape Oncology)

    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
    • Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Hered Cancer Clin Pract. 2018 Jan 15;16:4. doi: 10.1186/s13053-018-0086-0. eCollection 2018.
    • Rapid screening test of most frequent BRCA1/BRCA2 pathogenic variants in the NGS era.
    • Zidekova D, Waczulikova I, Dolesova L, Vavrova L, Hamidova O, Lohajova Behulova R, Konecny M.
    • Neoplasma. 2018;65(2):309-315. doi: 10.4149/neo_2018_170507N328.
    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
    • Hirasawa A, Imoto I, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D.
    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.
    • Childers CP, Childers KK, Maggard-Gibbons M, Macinko J.
    • J Clin Oncol. 2017 Dec 1;35(34):3800-3806. doi: 10.1200/JCO.2017.73.6314. Epub 2017 Aug 18.

    Editorial:

    Genetic Testing: What Problem Are We Trying to Solve?

    Letter:

    Population-Based Genetic Testing for BRCA1 and BRCA2.

    Press: Huge Underuse of Genetic Testing Among Cancer Survivors. (Medscape Oncology)

    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
    • Rosenthal ET, Bernhisel R, Brown K, Kidd J, Manley S.
    • Cancer Genet. 2017 Dec;218-219:58-68. doi: 10.1016/j.cancergen.2017.09.003. Epub 2017 Sep 25.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Introduction. Autosomal Dominant Inheritance of Breast and Gynecologic Cancer Predisposition.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes. BRCA1 and BRCA2. Clinical criteria and models for prediction of the likelihood of a BRCA1 or BRCA2 pathogenic variant.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Testing for BRCA1/2 Mutations.
    • Sefton P.
    • JAMA. 2017 Nov 28;318(20):2054. doi: 10.1001/jama.2017.17280.
    • BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
    • Alemar B, Gregório C, Herzog J, Matzenbacher Bittar C, Brinckmann Oliveira Netto C, Artigalas O, D Schwartz IV, Coffa J, Alves Camey S, Weitzel J, Ashton-Prolla P.
    • PLoS One. 2017 Nov 21;12(11):e0187630. doi: 10.1371/journal.pone.0187630. eCollection 2017.
    • Clinicopathologic and prognostic features of breast cancer in young women: a series from North of Morocco.
    • Bakkach J, Mansouri M, Derkaoui T, Loudiyi A, Fihri M, Hassani S, Barakat A, Ghailani Nourouti N, Bennani Mechita M.
    • BMC Womens Health. 2017 Nov 9;17(1):106. doi: 10.1186/s12905-017-0456-1.
    • The Search for the Missing Heritability of Prostate Cancer.
    • Walsh PC.
    • Eur Urol. 2017 Nov;72(5):657-659. doi: 10.1016/j.eururo.2017.04.003. Epub 2017 Apr 22.
    • Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
    • Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.
    • J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

    Commentary:

    Germline Testing for Individuals With Pancreatic Cancer: The Benefits and Challenges to Casting a Wider Net.

    Commentary:

    Your Genes: Getting the Best Fit.

    • Cancer Status Bests Family History for BRCA Testing.
    • Neil Osterweil.
    • Medscape. Conference News. 2017 Oct 19.
    • Germline genetic variants in men with prostate cancer and one or more additional cancers.
    • Pilié PG, Johnson AM, Hanson KL, Dayno ME, Kapron AL, Stoffel EM, Cooney KA.
    • Cancer. 2017 Oct 15;123(20):3925-3932. doi: 10.1002/cncr.30817. Epub 2017 Jun 28.
    • Pathology update to the Manchester Scoring System based on testing in over 4000 families.
    • Evans DG, Harkness EF, Plaskocinska I, Wallace AJ, Clancy T, Woodward ER, Howell TA, Tischkowitz M, Lalloo F.
    • J Med Genet. 2017 Oct;54(10):674-681. doi: 10.1136/jmedgenet-2017-104584. Epub 2017 May 10.
    • 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.
    • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
    • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K.
    • JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    Editorial:

    The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.

    Press: Study Shows More Cancer Mutations Detected by Universal Sequencing. (Clinical Omics)

    Press: Expanding Germline Analyses to Prevent and Treat Cancers. (Medscape)

    • Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
    • Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H.
    • J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17.
    • Genetic Testing in Patients With Newly Diagnosed Breast Cancer: Room for Improvement.
    • Ahn S, Port ER.
    • J Clin Oncol. 2017 Jul 10;35(20):2221-2223. doi: 10.1200/JCO.2017.72.8816. Epub 2017 Apr 14.
    • Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study.
    • Golan T, Raitses-Gurevich M, Kelley RK, Bocobo AG, Borgida A, Shroff RT, Holter S, Gallinger S, Ahn DH, Aderka D, Apurva J, Bekaii-Saab T, Friedman E, Javle M.
    • Oncologist. 2017 Jul;22(7):804-810. doi: 10.1634/theoncologist.2016-0415. Epub 2017 May 9.
    • Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.
    • Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Mæhle L, Undlien DE, Norum J, Schlichting E.
    • BMC Cancer. 2017 Jun 21;17(1):438. doi: 10.1186/s12885-017-3422-2.
    • Evaluating the NCCN Clinical Criteria for Recommending BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
    • Cropper C, Woodson A, Arun B, Barcenas C, Litton J, Noblin S, Liu D, Park M, Daniels M.
    • J Natl Compr Canc Netw. 2017 Jun;15(6):797-803. doi: 10.6004/jnccn.2017.0107.
    • 5 Big Questions (and Answers) on Inherited Prostate Cancer Testing.
    • Nick Mulcahy
    • Medscape. Coverage from the American Urological Association (AUA) 2017 Annual Meeting. 2017 May 18.
    • Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population.
    • Wiesman C, Rose E, Grant A, Zimilover A, Klugman S, Schreiber-Agus N.
    • Genet Med. 2017 May;19(5):529-536. doi: 10.1038/gim.2016.154. Epub 2016 Oct 13.

    Press: New Study Highlights the Benefits of BRCA Testing for All People of Ashkenazi Jewish Descent. (Newswise, Montefiore Health System)

    • Impact of self-reported data on the acquisition of multi-generational family history and lifestyle factors among women seen in a high-risk breast screening program: a focus on modifiable risk factors and genetic referral.
    • Rosenberger LH, Weber R, Sjoberg D, Vickers AJ, Mangino DA, Morrow M, Pilewskie ML.
    • Breast Cancer Res Treat. 2017 Apr;162(2):275-282. doi: 10.1007/s10549-017-4115-x. Epub 2017 Jan 28.
    • BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.
    • Loizidou MA, Hadjisavvas A, Pirpa P, Spanou E, Delikurt T, Tanteles GA, Daniel M, Kountourakis P, Malas S, Ioannidis G, Zouvani I, Kakouri E, Papamichael D, Marcou Y, Anastasiadou V, Kyriacou K.
    • Clin Genet. 2017 Apr;91(4):611-615. doi: 10.1111/cge.12886. Epub 2016 Nov 23.
    • Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.
    • Evans DG, Woodward ER, Howell SJ, Verhoef S, Howell A, Lalloo F.
    • Fam Cancer. 2017 Apr;16(2):173-179. doi: 10.1007/s10689-016-9942-0.
    • Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer.
    • Nilsson MP, Winter C, Kristoffersson U, Rehn M, Larsson C, Saal LH, Loman N.
    • Fam Cancer. 2017 Apr;16(2):187-193. doi: 10.1007/s10689-016-9953-x.
    • Recurrent TP53 missense mutation in cancer patients of Arab descent.
    • Zick A, Kadouri L, Cohen S, Frohlinger M, Hamburger T, Zvi N, Plaser M, Avital E, Breuier S, Elian F, Salah A, Goldberg Y, Peretz T.
    • Fam Cancer. 2017 Apr;16(2):295-301. doi: 10.1007/s10689-016-9951-z.
    • Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.
    • Kim DH, Chae H, Jo I, Yoo J, Lee H, Jang W, Park J, Lee GD, Jeon DS, Lee KH, Hur SY, Chae BJ, Song BJ, Kim M, Kim Y.
    • BMC Med Genet. 2017 Mar 28;18(1):38. doi: 10.1186/s12881-017-0398-3.
    • Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.
    • Cvelbar M, Hocevar M, Novakovic S, Stegel V, Perhavec A, Krajc M.
    • Radiol Oncol. 2017 Mar 16;51(2):187-194. doi: 10.1515/raon-2017-0013. eCollection 2017 Jun.
    • Identification, genetic testing, and management of hereditary melanoma.
    • Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P.
    • Cancer Metastasis Rev. 2017 Mar 10. doi: 10.1007/s10555-017-9661-5. [Epub ahead of print]
    • Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
    • Crawford B, Adams SB, Sittler T, van den Akker J, Chan S, Leitner O, Ryan L, Gil E, van 't Veer L.
    • Breast Cancer Res Treat. 2017 Mar 9. doi: 10.1007/s10549-017-4181-0. [Epub ahead of print]
    • Family history predictors of BRCA1/BRCA2 mutation status among Tunisian breast/ovarian cancer families.
    • Riahi A, Ghourabi ME, Fourati A, Chaabouni-Bouhamed H.
    • Breast Cancer. 2017 Mar;24(2):238-244. doi: 10.1007/s12282-016-0693-4. Epub 2016 Mar 30.
    • Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
    • Antonucci I, Provenzano M, Sorino L, Balsamo M, Aceto GM, Battista P, Euhus D, Cianchetti E, Ballerini P, Natoli C, Palka G, Stuppia L.
    • J Hum Genet. 2017 Mar;62(3):379-387. doi: 10.1038/jhg.2016.138. Epub 2016 Dec 8.
    • Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
    • Pritzlaff M, Summerour P, McFarland R, Li S, Reineke P, Dolinsky JS, Goldgar DE, Shimelis H, Couch FJ, Chao EC, LaDuca H.
    • Breast Cancer Res Treat. 2017 Feb;161(3):575-586. doi: 10.1007/s10549-016-4085-4. Epub 2016 Dec 22.
    • Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report.
    • de Jonge MM, Mooyaart AL, Vreeswijk MP, de Kroon CD, van Wezel T, van Asperen CJ, Smit VT, Dekkers OM, Bosse T.
    • Eur J Cancer. 2017 Feb;72:215-225. doi: 10.1016/j.ejca.2016.11.028. Epub 2016 Dec 31.
    • Review
    • Evaluating the performance of National Comprehensive Cancer Network (NCCN) breast and ovarian genetic/familial high risk assessment referral criteria for breast cancer women in an Asian surgical breast clinic.
    • Lim GH, Borje E, Allen JC Jr.
    • Gland Surg. 2017 Feb;6(1):35-42. doi: 10.21037/gs.2016.11.05.
    • 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.
    • Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer.
    • Foote JR, Lopez-Acevedo M, Buchanan AH, Secord AA, Lee PS, Fountain C, Myers ER, Cohn DE, Reed SD, Havrilesky LJ.
    • J Oncol Pract. 2017 Jan 3:JOP2016011866. [Epub ahead of print]

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Always Handy

    • BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines.
    • Chun DS, Berse B, Venne VL, DuVall SL, Filipski KK, Kelley MJ, Meyer LJ, Icardi MS, Lynch JA.
    • Fam Cancer. 2017 Jan;16(1):41-49. doi: 10.1007/s10689-016-9921-5.
    • Learning Healthcare System for the Prescription of Genetic Testing in the Gynecological Cancer Risk.
    • Suárez-Mejías C, Martínez-García A, Martínez-Maestre MÁ, Silvan-Alfaro JM, Moreno Conde J, Parra-Calderón CL.
    • Stud Health Technol Inform. 2017;235:96-100.
    • Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing.
    • Rosenthal ET, Evans B, Kidd J, Brown K, Gorringe H, van Orman M, Manley S.
    • J Am Coll Radiol. 2016 Dec 20. pii: S1546-1440(16)31032-8. doi: 10.1016/j.jacr.2016.10.003. [Epub ahead of print]
    • Increasing Appropriate BRCA1/2 Mutation Testing: The Role of Family History Documentation and Genetic Counseling in a Multidisciplinary Clinic.
    • Kishan AU, Gomez CL, Dawson NA, Dvorak R, Foster NM, Hoyt A, Hurvitz SA, Kusske A, Silver EL, Tseng C, McCloskey SA.
    • Ann Surg Oncol. 2016 Dec;23(Suppl 5):634-641. Epub 2016 Sep 12.
    • Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients.
    • Vergote I, Banerjee S, Gerdes AM, van Asperen C, Marth C, Vaz F, Ray-Coquard I, Stoppa-Lyonnet D, Gonzalez-Martin A, Sehouli J, Colombo N.
    • Eur J Cancer. 2016 Dec;69:127-134. doi: 10.1016/j.ejca.2016.10.006. Epub 2016 Nov 4.
    • Review
    • Genetic testing and interpretive complexity: a BRCA1 gene mutation example.
    • Gogarty DS, Farrell MP, Gallagher DJ.
    • Ir J Med Sci. 2016 Nov;185(4):955-957. Epub 2014 Dec 13.
    • Case report, Review
    • Genetic Tests That Make a Difference After a Breast Cancer Diagnosis.
    • Marisa C. Weiss
    • U.S. News and World Report. Health Care. Oct. 24, 2016.
    • Assessing, Counseling, and Treating Patients at High Risk for Breast Cancer.
    • Clifford E, Hughes KS, Roberts M, Pirzadeh-Miller S, McLaughlin SA.
    • Ann Surg Oncol. 2016 Oct;23(10):3128-32. doi: 10.1245/s10434-016-5399-5. Epub 2016 Jul 11.
    • Review
    • Young premenopausal women with breast cancer, especially estrogen receptor negative, are at significantly increased risk for subsequent ovarian cancer.
    • Lehrer S, Rheinstein PH, Green S, Rosenzweig KE.
    • Discov Med. 2016 Oct;22(121):209-213.
    • Familial prostate cancer.
    • Giri VN, Beebe-Dimmer JL.
    • Semin Oncol. 2016 Oct;43(5):560-565. doi: 10.1053/j.seminoncol.2016.08.001. Epub 2016 Aug 18.
    • Review
    • Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer
    • ASBS Research committee
    • The American Society of Breast Surgeons. www.breastsurgeons.org. 2016 Sep 13.

    Comments on NSGC Discussion Forum Cancer SIG

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

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

    • Contribution of extended family history in assessment of risk for breast and colon cancer.
    • Solomon BL, Whitman T, Wood ME.
    • BMC Fam Pract. 2016 Sep 1;17(1):126. doi: 10.1186/s12875-016-0521-0.
    • Dissimilarity between sporadic, non-BRCA1/2 families and hereditary breast cancer, linked to BRCA genes, in the Tunisian population.
    • Riahi A, Gourabi ME, Chabouni-Bouhamed H.
    • Breast Cancer. 2016 Sep;23(5):807-12. doi: 10.1007/s12282-015-0648-1. Epub 2015 Oct 17.
    • What Men Should Know About BRCA Variant Testing.
    • Michelle Jacobs
    • Michigan Health. July 22, 2016.
    • Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
    • Magdalena K, Monika Z, Adam G, Magdalena R, Marzena L, Wojciech B, Janusz L, Bartosz W.
    • Cancer Med. 2016 Jul;5(7):1640-6. doi: 10.1002/cam4.748. Epub 2016 May 11.
    • Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.
    • Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.
    • Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6.
    • 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.
    • Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
    • Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.
    • PLoS One. 2016 Jun 3;11(6):e0156789. doi: 10.1371/journal.pone.0156789. eCollection 2016.
    • BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.
    • Høberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H, Rusken T, Eikesdal HP, Listøl W, Haavind MT, Knappskog PM, Haukanes BI, Steen VM, Hoogerbrugge N.
    • Eur J Hum Genet. 2016 Jun;24(6):881-8. doi: 10.1038/ejhg.2015.196. Epub 2015 Sep 9.
    • Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

    Letter

    Next-Generation Sequencing of Tumors to Better Estimate the Clinical Significance of Non-BRCA Germline Deleterious Mutations.

    • Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario.
    • Dos Santos Vidal R, Hawrysh A, Walia JS, Davey S, Feilotter H.
    • J Mol Diagn. 2016 May;18(3):362-9. doi: 10.1016/j.jmoldx.2015.11.007.
    • Who Should Consider Genetic Counseling and Testing for Breast and Ovarian Cancer? : Guidelines Have Expanded.
    • [No author given]
    • My Gene Counsel. 2016 Apr 5.
    • Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.
    • González-Rivera M, Lobo M, López-Tarruella S, Jerez Y, Del Monte-Millán M, Massarrah T, Ramos-Medina R, Ocaña I, Picornell A, Garzón SS, Pérez-Carbornero L, García-Saenz JA, Gómez H, Moreno F, Márquez-Rodas I, Fuentes H, Martin M.
    • Breast Cancer Res Treat. 2016 Apr;156(3):507-15. doi: 10.1007/s10549-016-3792-1. Epub 2016 Apr 15.
    • Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome.
    • Trepanier AM, Supplee L, Blakely L, McLosky J, Duquette D.
    • Healthcare (Basel). 2016 Mar 11;4(1). pii: E19. doi: 10.3390/healthcare4010019.
    • Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
    • Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.
    • Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.
    • Screening for Genetic Testing in Breast Cancer - Are We Missing the Full Picture?
    • McCormick G, Mikropoulos C, Sadler G, Abson C, Davis A, Hall J.
    • Clin Oncol (R Coll Radiol). 2016 Mar;28(3):226. doi: 10.1016/j.clon.2015.07.003. Epub 2015 Aug 5.
    • Letter
    • Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review.
    • Eccles DM, Balmaña J, Clune J, Ehlken B, Gohlke A, Hirst C, Potter D, Schroeder C, Tyczynski JE, Gomez Garcia EB.
    • Adv Ther. 2016 Feb;33(2):129-50. doi: 10.1007/s12325-016-0281-1. Epub 2016 Jan 25.
    • Review
    • 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

    • Genetic screening for gynecological cancer: where are we heading?
    • Manchanda R, Jacobs I.
    • Future Oncol. 2016 Jan;12(2):207-20. doi: 10.2217/fon.15.278. Epub 2015 Dec 7.
    • Editorial / Commentary
    • Germline BRCA1/2 testing practices in ovarian cancer: Current state and opportunities for new directions.
    • Lheureux S, Karakasis K, Harter P, Scott C, Bacon M, Bryce J, Le Fur N, Pujade-Lauraine E, Oza AM.
    • Gynecol Oncol. 2016 Jan;140(1):90-94. doi: 10.1016/j.ygyno.2015.10.010. Epub 2015 Oct 22.
    • UK BRCA mutation testing in patients with ovarian cancer.
    • George A.
    • Br J Cancer. 2015 Dec 15;113(S1):S17-S21. doi: 10.1038/bjc.2015.396.
    • Review
    • Identification of germline genetic mutations in patients with pancreatic cancer.
    • Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK.
    • Cancer. 2015 Dec 15;121(24):4382-4388. doi: 10.1002/cncr.29664. Epub 2015 Oct 6.
    • Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT Study.
    • Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Bourquardez Clark E, Kondoff MR, Molina AD, Abdollahian M, Walker G, Sutphen R.
    • JAMA Oncol. 2015 Dec 1;1(9):1251-1260. doi: 10.1001/jamaoncol.2015.3048.

    Blog post: Rates of Genetic Testing on the Rise While Utilization of Genetic Counseling Plummets (My Gene Counsel)

    Press: Most Women Get No Counseling After BRCA Testing (Medscape Oncology)

    Press: Study of Aetna-Insured Finds Lack of Pre-BRCA Test Counseling Despite Guidelines (GenomeWeb)

    Press: BRCA Testing, Genetic Counseling Utilization in the Community Setting (OncoTherapy Network)

    Press: Too Few Women Get Counseling Before Breast Cancer Gene Test: Study (MedlinePlus)

    Press: Too Few Get Counseling Before BRCA Gene Test (WEbMD / HealthDay News)

    • [Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome].
    • Foretová L, Macháčková E, Palácová M, Navrátilová M, Svoboda M, Petráková K.
    • Klin Onkol. 2015 Winter;29 Suppl 1:9-13.
    • Review, [Article in Czech]
    • Clinical Practice Guideline for the prevention and early detection of breast and ovarian cancer in women from HBOC (hereditary breast and ovarian cancer) families.
    • Singer CF, Tea MK, Pristauz G, Hubalek M, Rappaport C, Riedl CC, Helbich TH.
    • Wien Klin Wochenschr. 2015 Dec;127(23-24):981-6. doi: 10.1007/s00508-015-0880-x. Epub 2015 Nov 2.
    • Getting Tested For The 'Breast Cancer Genes'
    • Justin Lorentz
    • Huffington Post Canada, Living, 2015 Oct 30
    • Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key.
    • Peshkin BN, Vadaparampil ST, Hoskins LM, O'Neill SM, Barter JF.
    • Gynecol Oncol Rep. 2015 Oct 20;14:44-5. doi: 10.1016/j.gore.2015.10.001. eCollection 2015.

    Letter

    In response to Peshkin et al. "Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key".

    • Breast Cancer Risk: What Women – and Men – Need to Know.
    • Joy Larsen Haidle.
    • NSGC Blog. 2015 Oct 1.
    • Singapore Cancer Network (SCAN) Guidelines for Referral for Genetic Evaluation of Common Hereditary Cancer Syndromes.
    • [No authors listed]
    • Ann Acad Med Singapore. 2015 Oct;44(10):492-510.
    • Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
    • Saam J, Arnell C, Theisen A, Moyes K, Marino I, Roundy KM, Wenstrup RJ.
    • Oncology. [2015 Oct;]89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.
    • Your Checklist For Ovarian Cancer Genetic Counseling.
    • [No author given].
    • My Gene Counsel. 2015 Sep 24.
    • Who Should Be Concerned About Hereditary Cancer?
    • [No author given].
    • My Gene Counsel. 2015 Sep 22.
    • Epithelial Ovarian Cancer Metastatic to the Central Nervous System and a Family History Concerning for Hereditary Breast and Ovarian Cancer--A Potential Relationship.
    • Jernigan AM, Mahdi H, Rose PG.
    • Int J Gynecol Cancer. 2015 Sep;25(7):1232-8. doi: 10.1097/IGC.0000000000000489.
    • Testing for Hereditary Breast Cancer: Panel or Targeted Testing? Experience from a Clinical Cancer Genetics Practice.
    • Doherty J, Bonadies DC, Matloff ET.
    • J Genet Couns. 2015 Aug;24(4):683-7. doi: 10.1007/s10897-014-9796-2. Epub 2014 Dec 5.
    • 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.
    • BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
    • Zhen DB, Rabe KG, Gallinger S, Syngal S, Schwartz AG, Goggins MG, Hruban RH, Cote ML, McWilliams RR, Roberts NJ, Cannon-Albright LA, Li D, Moyes K, Wenstrup RJ, Hartman AR, Seminara D, Klein AP, Petersen GM.
    • Genet Med. 2015 Jul 2;17(7):569-577. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.
    • Genetics of breast cancer: a topic in evolution.
    • Shiovitz S, Korde LA.
    • Ann Oncol. 2015 Jul;26(7):1291-9. doi: 10.1093/annonc/mdv022. Epub 2015 Jan 20.
    • Association of family risk and lifestyle/comorbidities in ovarian cancer patients.
    • Teixeira N, Folgueira MA, Maistro S, Encinas G, Bock GH, Diz Mdel P.
    • Rev Assoc Med Bras. 2015 May-Jun;61(3):234-9. doi: 10.1590/1806-9282.61.03.234.
    • Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
    • van den Broek AJ, de Ruiter K, van 't Veer LJ, Tollenaar RA, van Leeuwen FE, Verhoef S, Schmidt MK.
    • Eur J Hum Genet. 2015 May;23(5):588-595. doi: 10.1038/ejhg.2014.161. Epub 2014 Aug 20.
    • Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
    • Fostira F, Konstantopoulou I, Mavroudis D, Tryfonopoulos D, Yannoukakos D, Voutsinas GE.
    • Clin Genet. 2015 Apr;87(4):383-7. doi: 10.1111/cge.12397. Epub 2014 Apr 29.
    • Case report
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • 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.
    • A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
    • Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL.
    • Genet Med. 2015 Jan;17(1):70-87. doi: 10.1038/gim.2014.147. Epub 2014 Nov 13.
    • Guidelines

    Addendum:

    Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    • Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
    • Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q, Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins J, Evans D, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L, Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen M, Jensen U, Rantala J, Borg Å, Andrulis IL, Miron A, Hansen T, Caldes T, Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A, Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid M, Tung N, Pharoah P, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A, Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whittemore AS, West DW, Hamann U, Torres D, Ulmer H, Rüdiger T, Devilee P, Tollenaar R, Seynaeve C, Van Asperen CJ, Eccles DM, Tapper WJ, Durcan L, Jones L, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Dwek M, Swann R, Bane AL, Glendon G, Mulligan AM, Giles GG, Milne RL, Baglietto L, McLean C, Carpenter J, Clarke C, Scott R, Brauch H, Brüning T, Ko YD, Cox A, Cross SS, Reed M, Lubinski J, Jaworska-Bieniek K, Durda K, Gronwald J, Dörk T, Bogdanova N, Park-Simon TW, Hillemanns P, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Burwinkel B, Marme F, Surovy H, Yang R, Anton-Culver H, Ziogas A, Hooning MJ, Collée J, Martens J, Tilanus-Linthorst M, Brenner H, Dieffenbach A, Arndt V, Stegmaier C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Lindblom A, Margolin S, Joseph V, Robson M, Rau-Murthy R, González-Neira A, Arias J, Zamora P, Benítez J, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Peterlongo P, Zaffaroni D, Barile M, Capra F, Radice P, Teo SH, Easton DF, Antoniou AC, Chenevix-Trench G, Goldgar DE; ABCTB Investigators; EMBRACE Group; GENICA Network; HEBON Group; kConFab Investigators.
    • Breast Cancer Res. 2014 Dec 23;16(6):3419. doi: 10.1186/s13058-014-0474-y.
    • Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.
    • Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A, Custodio A, Teulé A, Fachal L, Martínez B, González-Sarmiento R, Cruz-Hernández JJ, Chirivella I, Garcés V, Garre P, Romero A, Caldés T, Díaz-Rubio E, de la Hoya M.
    • Breast Cancer Res Treat. 2014 Nov;148(2):415-21. doi: 10.1007/s10549-014-3167-4. Epub 2014 Oct 24.
    • Preventing ovarian cancer through genetic testing: a population-based study.
    • Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin JR, Lerner-Ellis J, Narod SA.
    • Clin Genet. 2014 Nov;86(5):496-9. doi: 10.1111/cge.12313. Epub 2013 Dec 4.
    • Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations.
    • Maier C, Herkommer K, Luedeke M, Rinckleb A, Schrader M, Vogel W.
    • Prostate. 2014 Oct;74(14):1444-51. doi: 10.1002/pros.22860. Epub 2014 Aug 11.
    • An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.
    • Lundy MG, Forman A, Valverde K, Kessler L.
    • J Genet Couns. 2014 Aug;23(4):618-32. doi: 10.1007/s10897-014-9692-9. Epub 2014 Feb 27.
    • BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
    • Lucas AL, Frado LE, Hwang C, Kumar S, Khanna LG, Levinson EJ, Chabot JA, Chung WK, Frucht H.
    • Cancer. 2014 Jul 1;120(13):1960-7. doi: 10.1002/cncr.28662. Epub 2014 Apr 15.
    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing.
    • Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, Elia M, Connor CS, McGinness MK, Mammen JM, Wagner JL, Ward C, Ranallo L, Knight CJ, Stecklein SR, Jensen RA, Fabian CJ, Godwin AK.
    • Breast Cancer Res Treat. 2014 Jun;145(3):707-14. doi: 10.1007/s10549-014-2980-0. Epub 2014 May 7.
    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • Angelina Jolie Effect: One Year Later
    • Joy Larsen Haidle
    • NSGC Blog, 2014 May 14
    • 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.
    • Testing for Familial BRCA1-2 Mutations: Implications for Genetic Counseling and Risk Assessment.
    • Travis T. Sims, Taya J. Fallen, Jeffrey S. Dungan, Lee P. Shulman
    • Obstetrics & Gynecology. 123(Suppl 1):185S-186S, May 2014. doi: 10.1097/01.AOG.0000447208.37582.d4
    • Conference abstract
    • 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.
    • Identifying lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype.
    • Chui MH, Gilks CB, Cooper K, Clarke BA.
    • Adv Anat Pathol. 2013 Nov;20(6):378-86. doi: 10.1097/PAP.0b013e3182a92cf8.
    • Review
    • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
    • Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E.
    • Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
    • Age at Diagnosis May Trump Family History in Driving BRCA Testing in a Population of Breast Cancer Patients.
    • Vig HS, McCarthy AM, Liao K, Demeter MB, Fredericks T, Armstrong K.
    • Cancer Epidemiol Biomarkers Prev. 2013 Oct;22(10):1778-1785. Epub 2013 Aug 5.
    • Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
    • Arts-de Jong M, Manders CM, Hoogerbrugge N, Ligtenberg MJ, Massuger LF, de Hullu JA, Spruijt L.
    • Int J Gynecol Cancer. 2013 Oct;23(8):1406-10. doi: 10.1097/IGC.0b013e3182a1cf71.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Genetic breast cancer risk among black populations.
    • Philippa Brice.
    • PHG Foundation. 2013 Jun 4.
    • Mutations in susceptibility genes common in younger African American women with breast cancer.
    • John Easton.
    • EurekAlert!. 2013 Jun 3.
    • Scotland expands breast cancer predictive genetic testing.
    • Philippa Brice.
    • PHG Foundation. 2013 May 22.
    • Angelina Jolie's Mastectomy: BRCA Testing in the Spotlight.
    • Kate Johnson.
    • Medscape Medical News. Oncology. 2013 May 16.
    • US panel rejects routine use of BRCA cancer screening in women.
    • McCarthy M.
    • BMJ. 2013 Apr 4;346:f2160. doi: 10.1136/bmj.f2160.
    • News
    • Prevalence and Healthcare Actions of Women in a Large Health System with a Family History Meeting the 2005 USPSTF Recommendation for BRCA Genetic Counseling Referral.
    • Bellcross CA, Leadbetter S, Alford SH, Peipins LA.
    • Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):728-35. doi: 10.1158/1055-9965.EPI-12-1280. Epub 2013 Jan 31.
    • Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?
    • Powell CB, Littell R, Hoodfar E, Sinclair F, Pressman A.
    • Int J Gynecol Cancer. 2013 Mar;23(3):431-6. doi: 10.1097/IGC.0b013e318280f2b4.
    • BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
    • Pennington KP, Walsh T, Lee M, Pennil C, Novetsky AP, Agnew KJ, Thornton A, Garcia R, Mutch D, King MC, Goodfellow P, Swisher EM.
    • Cancer. 2013 Jan 15;119(2):332-8. doi: 10.1002/cncr.27720. Epub 2012 Jul 18.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 loss of expression in Uetrine Serous carcinoma

    Subject: BRCA mutations and endometrial cancer

    • NICE launches consultation on familial breast cancer guidelines.
    • Simon Leese.
    • PHG Foundation. 2013 Jan 15.
    • Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
    • Rummel S, Varner E, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2013 Jan;137(1):119-25. doi: 10.1007/s10549-012-2348-2. Epub 2012 Nov 29.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Routine TP53 testing for breast cancer under age 30: ready for prime time?
    • McCuaig JM, Armel SR, Novokmet A, Ginsburg OM, Demsky R, Narod SA, Malkin D.
    • Fam Cancer. 2012 Dec;11(4):607-13. doi: 10.1007/s10689-012-9557-z.
    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.
    • Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Nov 2;14(6):R142. doi: 10.1186/bcr3347.
    • 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.
    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
    • Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T.
    • PLoS One. 2012;7(10):e47993. doi: 10.1371/journal.pone.0047993. Epub 2012 Oct 24.
    • Family Health History: Use It to Inform Preventive Services for Your Patients.
    • Katherine Kolor.
    • Medscape Oncology. CDC Expert Commentary. 2012 Sep 9.
    • Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
    • Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
    • Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
    • 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.
    • BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.
    • Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G.
    • J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18.

    Press: Routine BRCA Mutation Testing Urged in Ovarian Cancer. (Medscape/Reuters Health)

    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • Managing patients at high risk for hereditary breast cancer: a guide for the practicing physician.
    • Cusack JC Jr, Hughes KS.
    • Ann Surg Oncol. 2012 Jun;19(6):1721-2. doi: 10.1245/s10434-012-2255-0.
    • Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.
    • Vanstone M, Chow W, Lester L, Ainsworth P, Nisker J, Brackstone M.
    • Can Fam Physician. 2012 May;58(5):e258-66.
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.
    • Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Apr;132(2):421-8. doi: 10.1007/s10549-011-1596-x. Epub 2011 May 26.
    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
    • Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT, Arun B.
    • Cancer. 2012 Mar 15;118(6):1515-22. doi: 10.1002/cncr.26428. Epub 2011 Aug 25.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Does anyone have a good reference for the occurence of DCIS in hereditary cancer syndromes?

    • BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.
    • Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N.
    • Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: NCCN breast guidelines - 2 questions

    Press: Calls for expanded BRCA1 genetic testing of women (PHG Foundation)

    Press: BRCA1 testing for triple-negative breast cancer (Lancet Oncology)

    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Family History and Women With Ovarian Cancer: Is it Asked and Does it Matter?: An Observational Study.
    • Lanceley A, Eagle Z, Ogden G, Gessler S, Razvi K, Ledermann JA, Side L.
    • Int J Gynecol Cancer. 2012 Feb;22(2):254-9. doi: 10.1097/IGC.0b013e3182392714.
    • 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