Frequency / Rates ~ Variants of Uncertain Significance
~ Genetics of Breast & Ovarian Cancer

Rates of VUS discovery reported in various sequencing studies, including panel/next generation sequencing

List was last updated on Dec 9, 2019 @ 9:11 am.

    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

    • Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
    • Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.
    • J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]
    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
    • Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J.
    • Clin Biochem. 2019 Nov 28. pii: S0009-9120(19)30856-2. doi: 10.1016/j.clinbiochem.2019.11.014. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
    • Conley CC, Kasting ML, Augusto BM, Garcia JD, Cragun D, Gonzalez BD, Kim J, Ashing KT, Knott CL, Hughes-Halbert C, Pal T, Vadaparampil ST.
    • Ann Surg Oncol. 2019 Nov 1. doi: 10.1245/s10434-019-07982-9. [Epub ahead of print]
    • Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea.
    • Seo JH, Jeong SY, Kim MS, Kang JH, Paik ES, Lee YY, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH.
    • Obstet Gynecol Sci. 2019 Nov;62(6):411-419. doi: 10.5468/ogs.2019.62.6.411. Epub 2019 Oct 11.
    • Tumor BRCA Test for Patients with Epithelial Ovarian Cancer: The Role of Molecular Pathology in the Era of PARP Inhibitor Therapy.
    • Fumagalli C, Tomao F, Betella I, Rappa A, Calvello M, Bonanni B, Bernard L, Peccatori F, Colombo N, Viale G, Barberis M, Guerini-Rocco E.
    • Cancers (Basel). 2019 Oct 24;11(11). pii: E1641. doi: 10.3390/cancers11111641.
    • Ethnic disparities among men with prostate cancer undergoing germline testing.
    • Kwon DH, Borno HT, Cheng HH, Zhou AY, Small EJ.
    • Urol Oncol. 2019 Oct 17. pii: S1078-1439(19)30361-8. doi: 10.1016/j.urolonc.2019.09.010. [Epub ahead of print]
    • Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients.
    • Cecener G, Takanlou LS, Takanlou MS, Egeli U, Eskiler GG, Aksoy S, Unal U, Tezcan H, Eryilmaz IE, Gokgoz MS, Tunca B, Cubukcu E, Evrensel T, Cetintas S, Tasdelen I.
    • Cancer Genet. 2019 Oct 16;240:23-32. doi: 10.1016/j.cancergen.2019.10.004. [Epub ahead of print]
    • Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.
    • Ndugga-Kabuye MK, Issaka RB.
    • Fam Cancer. 2019 Sep 17. doi: 10.1007/s10689-019-00144-6. [Epub ahead of print]
    • BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.
    • Farra C, Dagher C, Hamadeh L, El Saghir N, Mukherji D.
    • BMC Med Genet. 2019 Sep 5;20(1):154. doi: 10.1186/s12881-019-0885-9.
    • Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
    • Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M.
    • BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0.
    • Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.
    • Petrovics G, Price DK, Lou H, Chen Y, Garland L, Bass S, Jones K, Kohaar I, Ali A, Ravindranath L, Young D, Cullen J, Dorsey TH, Sesterhenn IA, Brassell SA, Rosner IL, Ross D, Dahut W, Ambs S, Figg WD, Srivastava S, Dean M.
    • Prostate Cancer Prostatic Dis. 2019 Sep;22(3):406-410. doi: 10.1038/s41391-018-0114-1. Epub 2018 Dec 12.
    • Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.
    • Ong PY, Poon SL, Tan KT, Putti TC, Ow SGW, Chen SJ, Chen CH, Lee SC.
    • Gynecol Oncol. 2019 Aug 31. pii: S0090-8258(19)31479-9. doi: 10.1016/j.ygyno.2019.08.027. [Epub ahead of print]
    • Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
    • Stuttgen K, Croessmann S, Fetting J, Stearns V, Nunes R, Connolly RM, Park BH.
    • JAMA Oncol. 2019 Aug 29. doi: 10.1001/jamaoncol.2019.3116. [Epub ahead of print]
    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
    • Chang J, Seng S, Yoo J, Equivel P, Lum SS.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07595-2. [Epub ahead of print]
    • 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.
    • 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]
    • Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.
    • Cortés C, Rivera AL, Trochez D, Solarte M, Gómez D, Cifuentes L, Barreto G.
    • Hered Cancer Clin Pract. 2019 Jul 15;17:20. doi: 10.1186/s13053-019-0120-x. eCollection 2019.
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • Multi gene panel testing for hereditary breast cancer - is it ready to be used?
    • Catana A, Apostu AP, Antemie RG.
    • Med Pharm Rep. 2019 Jul;92(3):220-225. doi: 10.15386/mpr-1083. Epub 2019 Jul 31.
    • 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?

    • Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    • Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
    • The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants.
    • Schubert S, van Luttikhuizen JL, Auber B, Schmidt G, Hofmann W, Penkert J, Davenport CF, Hille-Betz U, Wendeburg L, Bublitz J, Tauscher M, Hackmann K, Schröck E, Scholz C, Wallaschek H, Schlegelberger B, Illig T, Steinemann D.
    • Int J Cancer. 2019 Jun 1;144(11):2683-2694. doi: 10.1002/ijc.31992. Epub 2019 Jan 11.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
    • Machackova E, Claes K, Mikova M, Házová J, Sťahlová EH, Vasickova P, Trbusek M, Navrátilová M, Svoboda M, Foretová L.
    • Klin Onkol. 2019 Summer;32(Supplementum2):51-71. doi: 10.14735/amko2019S51.
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
    • Mol Genet Genomic Med. 2019 May 26:e771. doi: 10.1002/mgg3.771. [Epub ahead of print]
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil.
    • Cipriano NM Jr, de Brito AM, de Oliveira ES, de Faria FC, Lemos S, Rodrigues AN, de Oliveira Lopes D, Dos Santos LL.
    • Breast Cancer. 2019 May;26(3):397-405. doi: 10.1007/s12282-018-00938-z. Epub 2018 Dec 11.
    • A reference system for BRCA mutation detection based on next-generation sequencing in the Chinese population.
    • Qu S, Chen Q, Yi Y, Shao K, Zhang W, Wang Y, Bai J, Li X, Liu Z, Wang X, Jing R, Guan Y, Yi X, Yan M, Cao B, Chen F, Zhu S, Yang X, Wu Y, Huang J.
    • J Mol Diagn. 2019 Apr 23. pii: S1525-1578(18)30284-8. doi: 10.1016/j.jmoldx.2019.03.003. [Epub ahead of print]
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Variant classification changes over time in BRCA1 and BRCA2.
    • Mighton C, Charames GS, Wang M, Zakoor KR, Wong A, Shickh S, Watkins N, Lebo MS, Bombard Y, Lerner-Ellis J.
    • Genet Med. 2019 Apr 11. doi: 10.1038/s41436-019-0493-2. [Epub ahead of print]
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.
    • Walker EJ, Carnevale J, Pedley C, Blanco A, Chan S, Collisson EA, Tempero MA, Ko AH.
    • Fam Cancer. 2019 Apr;18(2):241-251. doi: 10.1007/s10689-018-0106-2.
    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Peshkin BN, Isaacs C, Schwartz MD.
    • J Natl Cancer Inst. 2019 Mar 5. pii: djz028. doi: 10.1093/jnci/djz028. [Epub ahead of print]

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • 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.
    • 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.


    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)

    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
    • Henn J, Spier I, Adam RS, Holzapfel S, Uhlhaas S, Kayser K, Plotz G, Peters S, Aretz S.
    • Hered Cancer Clin Pract. 2019 Jan 23;17:5. doi: 10.1186/s13053-018-0102-4. eCollection 2019.
    • Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
    • Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA.
    • Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019.
    • Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
    • Fernández-Lopez JC, Romero-Córdoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Piña V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A.
    • Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.
    • Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
    • Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.
    • BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.
    • Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
    • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
    • J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147.

    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
    • Solodskikh SA, Panevina AV, Gryaznova MV, Gureev AP, Serzhantova OV, Mikhailov AA, Maslov AY, Popov VN.
    • Mutat Res. 2019 Jan;813:51-57. doi: 10.1016/j.mrfmmm.2018.12.005. Epub 2018 Dec 29.
    • A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
    • de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, de Aquino MAA, Agnez-Lima LF, Lajus TBP.
    • Breast Cancer Res Treat. 2018 Dec;172(3):637-646. doi: 10.1007/s10549-018-4938-0. Epub 2018 Aug 29.
    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
    • Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O.
    • J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10.
    • Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
    • Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW.
    • J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10.
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
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    • Mol Biol Rep. 2018 Oct;45(5):1413-1419. doi: 10.1007/s11033-018-4307-4. Epub 2018 Aug 22.
    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
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    • Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.
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    • JAMA Oncol. 2018 Aug 1;4(8):1066-1072. doi: 10.1001/jamaoncol.2018.0644.

    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

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

    Letter, Reply:

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

    • Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.
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    • BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
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    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
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    • Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.
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    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
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    • Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.
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    • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 28.

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

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    • Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
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    • High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
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    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
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    • Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.
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    • Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.
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    • BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).
    • Boulenouar ACS, Coulet F, Bendiab FMT, Boudinar FZ, Senhadji R.
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    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
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    • Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
    • Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.
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    • Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer.
    • Katz SJ, Ward KC, Hamilton AS, Mcleod MC, Wallner LP, Morrow M, Jagsi R, Hawley ST, Kurian AW.
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    Press: Many Breast Cancer Patients Not Receiving Genetic Evaluation. (Medscape)

    • Pathogenic Germline Variants in 10,389 Adult Cancers.
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    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
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    • The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
    • Slavin TP, Neuhausen SL, Nehoray B, Niell-Swiller M, Solomon I, Rybak C, Blazer K, Adamson A, Yang K, Sand S, Guerrero-Llamas N, Castillo D, Herzog J, Wu X, Tao S, Raja S, Chung V, Singh G, Nadesan S, Brown S, Cruz-Correa M, Petersen GM, Weitzel J; Clinical Cancer Genomics Community Research Network (CCGCRN).
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    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
    • Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR.
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    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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    • False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
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    • Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.38. [Epub ahead of print]


    Attention: Direct-To-Consumer patrons: Proceed with caution.

    Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)

    Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)

    Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)

    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
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    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A5. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
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    • Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
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    • Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
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    • Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.
    • Choi MC, Jang JH, Jung SG, Park H, Joo WD, Song SH, Lee C, Lee JH.
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    • Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing.
    • Lee K, Yoo C, Kim , Park KJ, Chang HM, Kim TW, Lee JL, Lee W, Lee SS, Park DH, Song TJ, Seo DW, Lee SK, Kim MH, Shin SH, Hwang DW, Song KB, Lee JH, Kim SC, Ryoo BY.
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    • FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
    • Nguyen-Dumont T, Myszka A, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
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    • Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.
    • Park JS, Lee ST, Nam EJ, Han JW, Lee JY, Kim J, Kim TI, Park HS.
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    • 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.
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    • Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
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    • Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort.
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    • Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
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    • Mutation Screening of 10 Cancer Susceptibility Genes in Unselected Breast Cancer Patients.
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    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
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    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
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    • Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
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    • Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
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    • Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
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    • Breast. 2017 Dec;36:74-78. doi: 10.1016/j.breast.2017.09.007. Epub 2017 Oct 8.
    • Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.
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    • Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
    • Li J, Li H, Makunin I; kConFab Investigators, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G.
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    • 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.
    • 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?
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    • Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
    • Yang XR, Devi BCR, Sung H, Guida J, Mucaki EJ, Xiao Y, Best A, Garland L, Xie Y, Hu N, Rodriguez-Herrera M, Wang C, Jones K, Luo W, Hicks B, Tang TS, Moitra K, Rogan PK, Dean M.
    • Breast Cancer Res Treat. 2017 Oct;165(3):687-697. doi: 10.1007/s10549-017-4356-8. Epub 2017 Jun 29.
    • Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Marín Vera M, Sánchez Bermúdez AI, Macías Cerrolaza JA, Sánchez Henarejos P, Zafra Poves M, García Hernández MR, Cuevas Tortosa E, Aliaga Baño Á, Castillo Guardiola V, Martínez Hernández P, Tovar Zapata I, Martínez Barba E, Ayala de la Peña F, Alonso Romero JL, Noguera Velasco JA, Ruiz Espejo F.
    • Fam Cancer. 2017 Oct;16(4):477-489. doi: 10.1007/s10689-017-9985-x.
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
    • Li G, Guo X, Tang L, Chen M, Luo X, Peng L, Xu X, Wang S, Xiao Z, Yi W, Dai L, Wang J.
    • J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024. doi: 10.1007/s00432-017-2465-8. Epub 2017 Jun 29.
    • Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
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    • Breast Cancer Res Treat. 2017 Aug;164(3):593-601. doi: 10.1007/s10549-017-4291-8. Epub 2017 May 13.
    • Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes Among Korean Breast Cancer Patients.
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    • Cancer Res Treat. 2017 Jul;49(3):627-634. doi: 10.4143/crt.2016.292. Epub 2016 Sep 13.
    • Outcomes of retesting BRCA negative patients using multigene panels.
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    • Fam Cancer. 2017 Jul;16(3):319-328. doi: 10.1007/s10689-016-9956-7.
    • Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.
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    • Fam Cancer. 2017 Jul;16(3):329-338. doi: 10.1007/s10689-016-9962-9.
    • Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
    • Frey MK, Sandler G, Sobolev R, Kim SH, Chambers R, Bassett RY, Martineau J, Sapra KJ, Boyd L, Curtin JP, Pothuri B, Blank SV.
    • Gynecol Oncol. 2017 Jul;146(1):123-128. doi: 10.1016/j.ygyno.2017.04.009. Epub 2017 May 8.
    • Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
    • Buleje J, Guevara-Fujita M, Acosta O, Huaman FDP, Danos P, Murillo A, Pinto JA, Araujo JM, Aguilar A, Ponce J, Vigil C, Castaneda C, Calderon G, Gomez HL, Fujita R.
    • Mol Genet Genomic Med. 2017 Jun 28;5(5):481-494. doi: 10.1002/mgg3.301. eCollection 2017 Sep.
    • 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.
    • The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
    • Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.
    • NPJ Breast Cancer. 2017 Jun 9;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.
    • Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
    • Stafford JL, Dyson G, Levin NK, Chaudhry S, Rosati R, Kalpage H, Wernette C, Petrucelli N, Simon MS, Tainsky MA.
    • PLoS One. 2017 Jun 7;12(6):e0178450. doi: 10.1371/journal.pone.0178450. eCollection 2017.
    • Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation.
    • Giri VN, Obeid E, Gross L, Bealin L, Hyatt C, Hegarty SE, Montgomery S, Forman A, Bingler R, Kelly WK, Dicker AP, Winheld S, Trabulsi EJ, Chen DYT, Lallas CD, Allen BA, Daly MB, Gomella LG.
    • JCO Precis Oncol. doi: 10.1200/PO.16.00039. Epub 2017 May 4.

    Editorial: Genetic Testing for Prostate Cancer in Clinical Practice. (JCO Precision Oncology)

    • Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.
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    Patients with negative multi-gene panel testing: a back to the future paradox?


    Placing negative multi-gene panel results into clinical context.

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    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.


    Reply to R. Nussbaum et al and J. Dolinsky et al.

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    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

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    Next Generation Multigene Panel Testing: The Next Step for Identification of Hereditary Colorectal Cancer Syndromes?

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    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer.
    • Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.
    • J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.
    • Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
    • Kurian AW, Kingham KE, Ford JM.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):23-33. doi: 10.1097/GCO.0000000000000141.
    • Review
    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
    • Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L.
    • BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3.
    • Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
    • Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.
    • Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.
    • Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
    • Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
    • EBioMedicine. 2015 Jan;2(1):74-81.
    • 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.
    • Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
    • Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M, Tomiak E, Foulkes WD.
    • Hered Cancer Clin Pract. 2014 Aug 28;12(1):19. doi: 10.1186/1897-4287-12-19. eCollection 2014.
    • Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
    • Valente AL, Rummel S, Shriver CD, Ellsworth RE.
    • Hered Cancer Clin Pract. 2014 Jul 19;12(1):17. doi: 10.1186/1897-4287-12-17. eCollection 2014.
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Comment, Editorial:

    Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.

    Press: Multiple-Gene Sequencing Panel Assesses Hereditary Cancer Risk. (Medscape/Reuters)

    Press: Study Supports Clinical Utility of Gene Panel Sequencing Approach. (GenomeWeb)

    Blog post: Gene panel screens dozens of genes for cancer-associated mutations. (ScienceBlog)

    • Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
    • Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE.
    • Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2.


    BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond.

    • Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U.
    • Breast Cancer Res Treat. 2014 Jun;145(3):775-84. doi: 10.1007/s10549-014-2972-0. Epub 2014 May 7.
    • H. Kim, D. Cho, D.H. Choi, W. Park, S.J. Huh.
    • Ann Oncol (2014 May) 25 (suppl 1): i6-i7. doi: 10.1093/annonc/mdu065.7. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract
    • Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families.
    • Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR.
    • J Mol Diagn. 2014 May;16(3):324-34. doi: 10.1016/j.jmoldx.2014.01.005. Epub 2014 Mar 5.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
    • Balabanski L, Antov G, Dimova I, Ivanov S, Nacheva M, Gavrilov I, Nesheva D, Rukova B, Hadjidekova S, Malinov M, Toncheva D.
    • Mol Clin Oncol. 2014 May;2(3):435-439. Epub 2014 Feb 4.
    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

    Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

    • Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
    • Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, Theisen A, Chen S, Trost J, Roa BB.
    • Cancer. 2014 Apr 1;120(7):963-7. doi: 10.1002/cncr.28504. Epub 2014 Jan 10.

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
    • Bonache S, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
    • Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31.
    • Germline mutation in the RAD51B gene confers predisposition to breast cancer.
    • Golmard L1, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D.
    • BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
    • Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M.
    • BMC Cancer. 2013 May 17;13:243. doi: 10.1186/1471-2407-13-243.
    • Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
    • Stavropoulou AV1, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, Triantafyllidou O, Bamias A, Dimopoulos MA, Timotheadou E, Pectasides D, Christodoulou C, Klouvas G, Papadimitriou C, Makatsoris T, Pentheroudakis G, Aravantinos G, Karydakis V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • PLoS One. 2013;8(3):e58182. doi: 10.1371/journal.pone.0058182. Epub 2013 Mar 11.

    Erratum: Correction: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases. (PLoS ONE)

    • Early Onset Breast Cancer in a Registry-based Sample of African-American Women: BRCA Mutation Prevalence, and Other Personal and System-level Clinical Characteristics.
    • Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST.
    • Breast J. 2013 Mar;19(2):189-92. doi: 10.1111/tbj.12083. Epub 2013 Jan 16.

    Press: Young, Black, Female Breast Cancer Patients Need Genetic Risk Strategies. (Medical News Today)

    • Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
    • Hilbers FS, Meijers CM, Laros JF, van Galen M, Hoogerbrugge N, Vasen HF, Nederlof PM, Wijnen JT, van Asperen CJ, Devilee P.
    • PLoS One. 2013;8(1):e55734. doi: 10.1371/journal.pone.0055734. Epub 2013 Jan 31.
    • Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases.
    • Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q.
    • Hum Mutat. 2013 Jan;34(1):70-3. doi: 10.1002/humu.22206. Epub 2012 Oct 11.
    • Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.
    • Kooshyar MM, Nassiri M, Mahdavi M, Doosti M, Parizadeh A.
    • Asian Pac J Cancer Prev. 2013;14(7):4339-45.
    • Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
    • Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ.
    • Int J Med Sci. 2013;10(1):60-7. doi: 10.7150/ijms.5014. Epub 2012 Dec 10.
    • BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
    • Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
    • Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
    • Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
    • Lu W, Wang X, Lin H, Lindor NM, Couch FJ.
    • Fam Cancer. 2012 Sep;11(3):381-5. doi: 10.1007/s10689-012-9523-9.
    • Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
    • Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
    • Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
    • Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A.
    • Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7.
    • BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
    • Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.
    • Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.
    • Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
    • Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C.
    • PLoS One. 2012;7(5):e37432. doi: 10.1371/journal.pone.0037432. Epub 2012 May 24.
    • Germline BRCA1 mutations increase prostate cancer risk.
    • Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, Goh C, Govindasami K, Guy M, O'Brien L, Sawyer E, Hall A, Wilkinson R, Easton D; UKGPCS Collaborators, Goldgar D, Eeles R, Kote-Jarai Z.
    • Br J Cancer. 2012 May 8;106(10):1697-701. doi: 10.1038/bjc.2012.146.

    Press: BRCA1 mutations increase risk of prostate cancer. (Lancet Oncology)

    Press: Breast cancer gene increases prostate cancer risk four-fold: research. (The Telegraph)

    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
    • De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28.
    • 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.
    • Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
    • Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.
    • Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.
    • Rare mutations in XRCC2 increase the risk of breast cancer.
    • Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.
    • Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29.

    Press: A new breast cancer susceptibility gene/ (EurekAlert!)

    • Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
    • Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; The WECARE Study Collaborative Group, Bernstein JL, Begg CB.
    • Hum Mutat. 2012 Apr;33(4):674-680. doi: 10.1002/humu.22022. Epub 2012 Feb 15.
    • Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
    • Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA.
    • BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84.
    • Novel germline PALB2 truncating mutations in African American breast cancer patients.
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.
    • Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.
    • Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
    • de Juan Jiménez I, Esteban Cardeñosa E, Palanca Suela S, Barragán González E, Aznar Carretero I, Munárriz Gandía B, Santaballa Bertran A, Torregrosa Maicas MD, Guillén Ponce C, Sánchez Heras AB, Bayón Lara A, Fuster Lluch O, Bolufer Gilabert P.
    • Fam Cancer. 2012 Mar;11(1):49-56. doi: 10.1007/s10689-011-9481-7.
    • Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
    • Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P.
    • PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A.
    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.
    • Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
    • Kuo WH, Lin PH, Huang AC, Chien YH, Liu TP, Lu YS, Bai LY, Sargeant AM, Lin CH, Cheng AL, Hsieh FJ, Hwu WL, Chang KJ.
    • J Hum Genet. 2012 Feb;57(2):130-8. doi: 10.1038/jhg.2011.142. Epub 2012 Jan 26.
    • Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.
    • Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied AB, Hassen E, Chouchane L.
    • Mol Biol Rep. 2012 Feb;39(2):1037-46. doi: 10.1007/s11033-011-0829-8. Epub 2011 May 21.
    • Cancer predisposing BARD1 mutations in breast-ovarian cancer families.
    • Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg Å, Kusmierek H, Biernat W, Limon J.
    • Breast Cancer Res Treat. 2012 Jan;131(1):89-97. doi: 10.1007/s10549-011-1403-8. Epub 2011 Feb 23.
    • BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.
    • Lara K, Consigliere N, Pérez J, Porco A.
    • Biol Res. 2012;45(2):117-30. doi: 10.4067/S0716-97602012000200003.
    • BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
    • Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.
    • Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.