General Risk ~ Phenotype / Expression / Risk Spectrum of HBOC
~ Genetics of Breast & Ovarian Cancer

General or comprehensive presentations or reviews of risk from HBOC

List was last updated on Nov 28, 2019 @ 10:43 pm.


    • BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
    • Lee A, Moon BI, Kim TH.
    • Ann Lab Med. 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114.
    • Review

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
    • Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
    • Wu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Breast Cancer Res Treat. 2019 Nov 25. doi: 10.1007/s10549-019-05483-7. [Epub ahead of print]
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • The OncoLifeS data-biobank for oncology: a comprehensive repository of clinical data, biological samples, and the patient's perspective.
    • Sidorenkov G, Nagel J, Meijer C, Duker JJ, Groen HJM, Halmos GB, Oonk MHM, Oostergo RJ, van der Vegt B, Witjes MJH, Nijland M, Havenga K, Maduro JH, Gietema JA, de Bock GH.
    • J Transl Med. 2019 Nov 14;17(1):374. doi: 10.1186/s12967-019-2122-x.
    • Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
    • Dowson CB, Stewart C, O'Sullivan S, Pachter N, Schofield L, Cohen PA.
    • Int J Gynecol Cancer. 2019 Nov 7. pii: ijgc-2019-000540. doi: 10.1136/ijgc-2019-000540. [Epub ahead of print]
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients.
    • Fragoso-Ontiveros V, Velázquez-Aragón JA, Nuñez-Martínez PM, de la Luz Mejía-Aguayo M, Vidal-Millán S, Pedroza-Torres A, Sánchez-Contreras Y, Ramírez-Otero MA, Muñiz-Mendoza R, Domínguez-Ortíz J, Wegman-Ostrosky T, Bargalló-Rocha JE, Gallardo-Rincón D, Reynoso-Noveron N, Arriaga-Canon C, Meneses-García A, Herrera-Montalvo LA, Alvarez-Gomez RM.
    • PLoS One. 2019 Sep 23;14(9):e0222709. doi: 10.1371/journal.pone.0222709. eCollection 2019.
    • Is it safe for BRCA mutation carriers to become pregnant following breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2019 Sep 4.
    • Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
    • Papamentzelopoulou M, Apostolou P, Fostira F, Dimitrakakis C, Loutradis D, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • Cancer Genet. 2019 Sep;237:90-96. doi: 10.1016/j.cancergen.2019.06.006. Epub 2019 Jun 12.
    • Cancer: more genetic BRCA testing for men.
    • Marabelli M, Calvello M, Bonanni B.
    • Nature. 2019 Sep;573(7774):346. doi: 10.1038/d41586-019-02775-2.

    Commentary:

    New name for breast-cancer syndrome could help to save lives.

    • 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]
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • Vascular endothelium function among male carriers of BRCA 1&2 germline mutation.
    • Witberg G, Lev E, Ber Y, Tabachnik T, Sela S, Belo I, Leshem-Lev D, Margel D.
    • Oncotarget. 2019 Aug 20;10(49):5041-5051. doi: 10.18632/oncotarget.27118. eCollection 2019 Aug 20.
    • 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 Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre.
    • Petelin L, Hossack L, Mitchell G, Liew D, Trainer AH, James PA.
    • Value Health. 2019 Aug;22(8):854-862. doi: 10.1016/j.jval.2019.03.008. Epub 2019 May 17.
    • Combined hormonal contraceptives in BRCA gene mutation carriers: why not?
    • Grandi G, Sammarini M, Chiara Del Savio M, Toss A, Facchinetti F.
    • Eur J Contracept Reprod Health Care. 2019 Jul 30:1-3. doi: 10.1080/13625187.2019.1647335. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
    • Mol Genet Genomic Med. 2019 Jul 17:e879. doi: 10.1002/mgg3.879. [Epub ahead of print]
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • A systematic review of the international prevalence of BRCA mutation in breast cancer.
    • Armstrong N, Ryder S, Forbes C, Ross J, Quek RG.
    • Clin Epidemiol. 2019 Jul 11;11:543-561. doi: 10.2147/CLEP.S206949. eCollection 2019.
    • How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility?
    • Venkitaraman AR.
    • DNA Repair (Amst). 2019 Jul 8:102668. doi: 10.1016/j.dnarep.2019.102668. [Epub ahead of print]
    • Review
    • New name for breast-cancer syndrome could help to save lives.
    • Pritchard CC.
    • Nature. 2019 Jul;571(7763):27-29. doi: 10.1038/d41586-019-02015-7.

    Letter:

    Cancer: more genetic BRCA testing for men.

    Press: New Name of 'King Syndrome' for Hereditary BRCA Mutations. (Medscape Oncology)

    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
    • Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.
    • Br J Cancer. 2019 Jun 19. doi: 10.1038/s41416-019-0492-8. [Epub ahead of print]
    • A young woman's story of genetic testing and risk-reducing mastectomy.
    • [No author given]
    • FORCE. XRAYS. 2019 Jun 6.

    Narrative: I Had a Preventive Mastectomy—Then Found Out I Already Had Breast Cancer. (Health)

    • 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.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
    • Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X.
    • Hum Mutat. 2019 May 21. doi: 10.1002/humu.23802. [Epub ahead of print]
    • Differences between screen-detected and interval breast cancers among BRCA mutation carriers.
    • Pilewskie M, Zabor EC, Gilbert E, Stempel M, Petruolo O, Mangino D, Robson M, Jochelson MS.
    • Breast Cancer Res Treat. 2019 May;175(1):141-148. doi: 10.1007/s10549-018-05123-6. Epub 2019 Jan 23.
    • Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer.
    • Lavie O, Chetrit A, Novikov I, Sadetzki S; National Israeli Study of Ovarian Cancer.
    • Gynecol Oncol. 2019 May;153(2):320-325. doi: 10.1016/j.ygyno.2019.02.022. Epub 2019 Mar 11.
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
    • Yost S, Ruark E, Alexandrov LB, Rahman N.
    • JNCI Cancer Spectr. 2019 Apr 19;3(2):pkz028. doi: 10.1093/jncics/pkz028. eCollection 2019 Jun.
    • The role of menopausal hormone therapy in women with or at risk of ovarian and breast cancers: Misconceptions and current directions.
    • Temkin SM, Mallen A, Bellavance E, Rubinsak L, Wenham RM.
    • Cancer. 2019 Feb 15;125(4):499-514. doi: 10.1002/cncr.31911. Epub 2018 Dec 20.
    • Review
    • 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]
    • Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers.
    • Shimada S, Yoshida R, Nakashima E, Kitagawa D, Gomi N, Horii R, Takeuchi S, Ashihara Y, Kita M, Akiyama F, Ohno S, Saito M, Arai M.
    • Breast Cancer. 2019 Apr 12. doi: 10.1007/s12282-019-00971-6. [Epub ahead of print]
    • Effects of Breast Cancer Genes 1 and 2 on Cardiovascular Diseases.
    • Zhou S, Jin J, Wang J, Zhang Z, Huang S, Zheng Y, Cai L.
    • Curr Probl Cardiol. 2019 Apr 12:100421. doi: 10.1016/j.cpcardiol.2019.04.001. [Epub ahead of print]
    • Review
    • Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.
    • Mahfoudh W, Bettaieb I, Ghedira R, Snoussi K, Bouzid N, Klayech Z, Gabbouj S, Remadi Y, Hassen E, Bouaouina N, Zakhama A.
    • J Transl Med. 2019 Apr 11;17(1):123. doi: 10.1186/s12967-019-1873-8.
    • Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
    • Deng H, Chen M, Guo X, Heng J, Xu X, Peng L, Jiang H, Li G, Day JX, Li J, Shan D, Li Y, Zhou Y, Liu B, Dai L, Wang X, Wang J.
    • Mol Genet Genomic Med. 2019 Apr 10:e672. doi: 10.1002/mgg3.672. [Epub ahead of print]
    • Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
    • Wang X, Liu H, Maimaitiaili A, Zhao G, Li S, Lv Z, Wu D, Shi A, Guan X, Jia H, Li M, Song D, Kang L, Han B, Fu T, Yang M, Zhu Z, Du Y, Song Y, Hong J, Fan Z.
    • Mol Genet Genomic Med. 2019 Apr 9:e677. doi: 10.1002/mgg3.677. [Epub ahead of print]
    • Combined tumor sequencing and case/control analyses of RAD51C in breast cancer.
    • Li N, McInerny S, Zethoven M, Cheasley D, Lim BWX, Rowley SM, Devereux L, Grewal N, Ahmadloo S, Byrne D, Lee JEA, Li J, Fox SB, John T, Antill Y, Gorringe KL, James PA, Campbell IG.
    • J Natl Cancer Inst. 2019 Apr 5. pii: djz045. doi: 10.1093/jnci/djz045. [Epub ahead of print]
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • 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.
    • 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.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.
    • Oh M, Alkhushaym N, Fallatah S, Althaghfi A, Aljadeed R, Alsowaida Y, Jeter J, Martin JR, Babiker HM, McBride A, Abraham I.
    • Prostate. 2019 Mar 22. doi: 10.1002/pros.23795. [Epub ahead of print]
    • Meta-Analysis
    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Mar 20. doi: 10.1001/jama.2019.0967. [Epub ahead of print]

    Original research:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • 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.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.
    • Terry MB, Liao Y, Kast K, Antoniou AC, McDonald JA, Mooij TM Engel C, Nogues C Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans DG, Eccles D, Cook J, Ong K, Izatt L, Ahmed M, Morrison PJ, Dommering CJ, Oosterwijk JC, Ausems MGEM, Kriege M, Buys SS, Andrulis IL, John EM, Daly M, Friedlander M, McLachlan SA, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, van Leeuwen FE, Goldgar D, Milne RL, Easton DF, Rookus MA, Andrieu N.
    • JNCI Cancer Spectrum. 2018 Nov 1 [Published 2019 Mar 8];2(4):pky078. doi: 10.1093/jncics/pky078.
    • Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
    • Frey MK, Kopparam RV, Ni Zhou Z, Fields JC, Buskwofie A, Carlson AD, Caputo T, Holcomb K, Chapman-Davis E.
    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
    • Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.
    • The Fanconi Anemia Pathway in Cancer.
    • Niraj J, Färkkilä A, D'Andrea AD.
    • Annu Rev Cancer Biol. 2019 Mar;3:457-478. doi: 10.1146/annurev-cancerbio-030617-050422. Epub 2018 Dec 3.
    • 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.
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Genetic variation and radiation quality impact cancer promoting cellular phenotypes in response to HZE exposure.
    • Sridharan DM, Enerio S, Wang C, LaBarge MA, Stampfer MR, Pluth JM.
    • Life Sci Space Res (Amst). 2019 Feb;20:101-112. doi: 10.1016/j.lssr.2018.10.002. Epub 2018 Oct 21.
    • Shared heritability and functional enrichment across six solid cancers.
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    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)

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

    • Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation.
    • [No author given]
    • FORCE. XRAYS. 2018 Sep 7.

    Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
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    Research News: Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation. (FORCE, XRAYS)

    Commentary, Video: Menopausal Hormone Therapy and Risk for Breast Cancer in BRCA1 Mutation Carriers. (Medscape)

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    • Letter

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

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

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    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

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    Preview, Research news:

    Aldehydes Pose a Threat to BRCA2 Mutation Carriers.

    Research news:

    Aldehydes Promote BRCA2 Haploinsufficiency and Genomic Instability.

    Research report, Commentary:

    Thwarting endogenous stress: BRCA protects against aldehyde toxicity.

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    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Letter:

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

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    Editorial

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

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    • Letters from iceland.
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    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

    Largest set of human genomes from a single population is sequenced.

    • Population Distribution of Lifetime Risk of Ovarian Cancer in the United States.
    • Pearce CL, Stram DO, Ness RB, Stram DA, Roman LD, Templeman C, Lee AW, Menon U, Fasching PA, McAlpine JN, Doherty JA, Modugno F, Schildkraut JM, Rossing MA, Huntsman DG, Wu AH, Berchuck A, Pike MC, Pharoah PD.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):671-6. doi: 10.1158/1055-9965.EPI-14-1128. Epub 2015 Jan 26.
    • A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival.
    • Anjum S, Fourkala EO, Zikan M, Wong A, Gentry-Maharaj A, Jones A, Hardy R, Cibula D, Kuh D, Jacobs IJ, Teschendorff AE, Menon U, Widschwendter M.
    • Genome Med. 2014 Jun 27;6(6):47. doi: 10.1186/gm567. eCollection 2014.

    Press: Prospects for blood test to predict breast cancer risk. (PHG Foundation)

    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective.
    • Foulkes W.
    • Clin Genet. 2014 Jan;85(1):1-4. doi: 10.1111/cge.12291. Epub 2013 Oct 25.
    • Editorial / Commentary
    • Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
    • Singer C, Muhr D, Rappaport C, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Pfeiler G, Berger A, Sun P, Narod S.
    • Clin Genet. 2014 Jan;85(1):72-5. doi: 10.1111/cge.12216. Epub 2013 Jul 16.
    • Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.
    • Tea MK, Kroiss R, Muhr D, Fuerhauser-Rappaport C, Oefner P, Wagner TM, Singer CF.
    • Maturitas. 2014 Jan;77(1):68-72. doi: 10.1016/j.maturitas.2013.09.012. Epub 2013 Oct 1.
    • Honing the Health Message on BRCA Mutations.
    • Schmidt C.
    • J Natl Cancer Inst. 2013 Dec 18;105(24):1843-4. doi: 10.1093/jnci/djt364. Epub 2013 Dec 6.
    • Increase in breast cancer gene screening: the Angelina Jolie effect.
    • Deborah Kotz.
    • Boston Globe. 2013 Dec 3.
    • Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Prospective Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers.
    • Evans DG, Ingham SL, Buchan I, Woodward ER, Byers H, Howell A, Maher ER, Newman WG, Lalloo F.
    • Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2269-76. doi: 10.1158/1055-9965.EPI-13-0316-T. Epub 2013 Nov 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and "true negative"

    Subject: "True negative" not really "true negative"

    Subject: Article Request

    • Breast cancer in adolescents and young adults: a review with a focus on biology.
    • Tichy JR, Lim E, Anders CK.
    • J Natl Compr Canc Netw. 2013 Sep 1;11(9):1060-9.
    • Review
    • Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors.
    • Evans DG, Ingham SL.
    • Appl Clin Genet. 2013 Jul 24;6:53-61. doi: 10.2147/TACG.S35605. Print 2013.
    • Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk.
    • Tilanus-Linthorst MM, Lingsma HF, Evans DG, Thompson D, Kaas R, Manders P, van Asperen CJ, Adank M, Hooning MJ, Kwan Lim GE, Eeles R, Oosterwijk JC, Leach MO, Steyerberg EW.
    • Int J Cancer. 2013 Jul;133(1):156-63. doi: 10.1002/ijc.28014. Epub 2013 Feb 13.
    • Proven non-carriers in BRCA families have an earlier age of onset of breast cancer.
    • Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, Oosterwijk JC.
    • Eur J Cancer. 2013 Jun;49(9):2101-6. doi: 10.1016/j.ejca.2013.02.018. Epub 2013 Mar 13.
    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • Evidence That BRCA1- or BRCA2-Associated Cancers Are Not Inevitable.
    • Levin B, Lech D, Friedenson B.
    • Mol Med. 2012 Dec 6;18:1327-37. doi: 10.2119/molmed.2012.00280.
    • Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary.
    • Noh JM, Choi DH, Baek H, Nam SJ, Lee JE, Kim JW, Ki CS, Park W, Huh SJ.
    • J Breast Cancer. 2012 Sep;15(3):283-7. doi: 10.4048/jbc.2012.15.3.283. Epub 2012 Sep 28.
    • 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

    • A seldom case of primary urethral malignant melanoma and breast cancer detected by (18)F-FDG PET/CT.
    • Agrawal KL, Mittal BR, Manohar K, Bhattacharya A, Kumar S, Singh SK.
    • Hell J Nucl Med. 2012 May-Aug;15(2):157-8. doi: 10.1967/s002449910036. Epub 2012 Jun 27.
    • A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier.
    • Ricci S, Shafer A, Nerenstone S, Mandavilli S, Sorosky J.
    • Int J Gynecol Pathol. 2012 Mar;31(2):145-8. doi: 10.1097/PGP.0b013e318227ad58.
    • Case Report
    • 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.
    • Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers.
    • Bernholtz S, Jakobson-Setton A, Korach J, Ben Baruch G, Laitman Y, Friedman E.
    • Breast Cancer Res Treat. 2012 Feb;131(3):981-5. doi: 10.1007/s10549-011-1807-5. Epub 2011 Oct 9.
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.