Other Genes Associated with Breast and Ovarian Cancer ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

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Older References


    • The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
    • Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.
    • PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.
    • Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
    • Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A.
    • Breast Cancer Res Treat. 2016 Dec 2. [Epub ahead of print]
    • Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family.
    • Yang C, Arnold AG, Trottier M, Sonoda Y, Abu-Rustum NR, Zivanovic O, Robson ME, Stadler ZK, Walsh MF, Hyman DM, Offit K, Zhang L.
    • Breast Cancer Res Treat. 2016 Dec;160(3):447-456. Epub 2016 Oct 18.
    • Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.
    • Lee AJ, Cunningham AP, Tischkowitz M, Simard J, Pharoah PD, Easton DF, Antoniou AC.
    • Genet Med. 2016 Dec;18(12):1190-1198. doi: 10.1038/gim.2016.31. Epub 2016 Apr 14.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Subject: article request

    • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
    • Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dörk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guénel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menéndez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Brüning T, Ko YD, Muranen TA, Aittomäki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K; Australian Ovarian Cancer Study Group, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnæs GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rüdiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, González-Neira A, Pita G, Alonso MR, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Høgdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Górski B, Gronwald J, Menkiszak J, Høgdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL.
    • J Med Genet. 2016 Dec;53(12):800-811. doi: 10.1136/jmedgenet-2016-103839. Epub 2016 Sep 5.

    Research News: Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk? (FORCE)

    • The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
    • Catucci I, Radice P, Milne RL, Couch FJ, Southey MC, Peterlongo P.
    • Breast Cancer Res. 2016 Nov 9;18(1):111.
    • Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer.
    • Kast K, Dobberschütz C, Sadowski CE, Pistorius S, Wimberger P.
    • Arch Gynecol Obstet. 2016 Nov;294(6):1299-1303. Epub 2016 Aug 18.
    • Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
    • Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL.
    • Breast Cancer Res Treat. 2016 Nov;160(1):121-129. Epub 2016 Sep 13.
    • A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
    • Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K.
    • Cancer Discov. 2016 Nov;6(11):1267-1275. Epub 2016 Sep 21.
    • Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.
    • Cecener G, Guney Eskiler G, Egeli U, Tunca B, Alemdar A, Gokgoz S, Tasdelen I.
    • Mol Biol Rep. 2016 Nov;43(11):1273-1284. Epub 2016 Aug 29.
    • The impact of in situ breast cancer and family history on risk of subsequent breast cancer events and mortality - a population-based study from Sweden.
    • Sackey H, Hui M, Czene K, Verkooijen H, Edgren G, Frisell J, Hartman M.
    • Breast Cancer Res. 2016 Oct 18;18(1):105. doi: 10.1186/s13058-016-0764-7.
    • Germline Variants of Prostate Cancer in Japanese Families.
    • Hayano T, Matsui H, Nakaoka H, Ohtake N, Hosomichi K, Suzuki K, Inoue I.
    • PLoS One. 2016 Oct 4;11(10):e0164233. doi: 10.1371/journal.pone.0164233. eCollection 2016.
    • Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
    • Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P, Fagerholm R, Greco D, Aittomäki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hart SN, Figueroa J, García-Closas M, Fasching PA, Beckmann MW, Li J, Liu J, Andrulis IL, Winqvist R, Pylkäs K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PD, Schmidt MK, Nevanlinna H.
    • Breast Cancer Res. 2016 Oct 3;18(1):98. doi: 10.1186/s13058-016-0758-5.
    • The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance.
    • Skol AD, Sasaki MM, Onel K.
    • Breast Cancer Res. 2016 Oct 3;18(1):99. doi: 10.1186/s13058-016-0759-4.
    • Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.
    • Win AK, Reece JC, Dowty JG, Buchanan DD, Clendenning M, Rosty C, Southey MC, Young JP, Cleary SP, Kim H, Cotterchio M, Macrae FA, Tucker KM, Baron JA, Burnett T, Le Marchand L, Casey G, Haile RW, Newcomb PA, Thibodeau SN, Hopper JL, Gallinger S, Winship IM, Lindor NM, Jenkins MA.
    • Int J Cancer. 2016 Oct 1;139(7):1557-63. doi: 10.1002/ijc.30197. Epub 2016 Jun 2.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: MUTYH carriers- letter template and extracolonic cancers

    • Genomic profiling of breast cancer in African-American women using MammaPrint.
    • Nunes RA, Wray L, Mete M, Herbolsheimer P, Smith KL, Bijelic L, Boisvert ME, Swain SM.
    • Breast Cancer Res Treat. 2016 Oct;159(3):481-8. doi: 10.1007/s10549-016-3949-y. Epub 2016 Aug 27.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • Genomic Disparities in Breast Cancer Among Latinas.
    • Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST.
    • Cancer Control. 2016 Oct;23(4):359-372.
    • Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.
    • Pfeifer K, Schürmann P, Bogdanova N, Neuhäuser K, Kostovska IM, Plaseska-Karanfilska D, Park-Simon TW, Schindler D, Dörk T.
    • Clin Genet. 2016 Oct;90(4):385-6. doi: 10.1111/cge.12837. Epub 2016 Aug 10.
    • Letter

    Letter, Reply

    RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk.

    • BRCA2: a grown-up cancer susceptibility gene.
    • Foulkes WD, Sugano K.
    • Endocr Relat Cancer. 2016 Oct;23(10):E1-E3.

    Review:

    BRCA2 functions: from DNA repair to replication fork stabilization.

    Review:

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

    Review:

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

    Review:

    Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

    Review:

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

    • Defects in homologous recombination repair behind the human diseases: FA and HBOC.
    • Katsuki Y, Takata M.
    • Endocr Relat Cancer. 2016 Oct;23(10):T19-T37. Epub 2016 Aug 22.

    Introductory article, Editorial:

    BRCA2: a grown-up cancer susceptibility gene.

    • Different prognostic roles of tumor suppressor gene BAP1 in cancer: A systematic review with meta-analysis.
    • Luchini C, Veronese N, Yachida S, Cheng L, Nottegar A, Stubbs B, Solmi M, Capelli P, Pea A, Barbareschi M, Fassan M, Wood LD, Scarpa A.
    • Genes Chromosomes Cancer. 2016 Oct;55(10):741-9. doi: 10.1002/gcc.22381. Epub 2016 Jul 7.
    • Meta-Analysis, Review
    • [The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing].
    • Prokofyeva DS, Mingajeva ET, Bogdanova NV, Faiskhanova RR, Sakaeva DD, Dörk T, Khusnutdinova EK.
    • Genetika. 2016 Oct;52(10):1215-21.
    • [Article in Russian]
    • Genetic predisposition to gastric cancer.
    • Petrovchich I, Ford JM.
    • Semin Oncol. 2016 Oct;43(5):554-559. doi: 10.1053/j.seminoncol.2016.08.006. Epub 2016 Sep 22.
    • Review
    • Prevalence of the CHEK2 R95* germline mutation.
    • Knappskog S, Leirvaag B, Gansmo LB, Romundstad P, Hveem K, Vatten L, Lønning PE.
    • Hered Cancer Clin Pract. 2016 Sep 27;14:19. eCollection 2016. doi: 10.1186/s13053-016-0059-0.
    • Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer.
    • Pensabene M, Condello C, Carlomagno C, De Placido S, Liccardo R, Duraturo F.
    • Hered Cancer Clin Pract. 2016 Sep 6;14(1):18. doi: 10.1186/s13053-016-0054-5. eCollection 2016.
    • Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
    • Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, Appetecchia M, Nicolussi A, Coppa A, Sciacchitano S, Giordano C, Pinnarò P, Sanguineti G, Strigari L, Alessandrini G, Facciolo F, Cosimelli M, Grazi GL, Corrado G, Vizza E, Giannini G, Soddu S.
    • J Exp Clin Cancer Res. 2016 Sep 6;35(1):135. doi: 10.1186/s13046-016-0410-3.
    • Mismatch Repair Polymorphisms as Markers of Breast Cancer Prevalence in the Breast Cancer Family Registry.
    • Kappil M, Terry MB, Delgado-Cruzata L, Liao Y, Santella RM.
    • Anticancer Res. 2016 Sep;36(9):4437-41.
    • Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
    • Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, Pinheiro M, Peixoto A, Teixeira MR.
    • Breast Cancer Res Treat. 2016 Sep;159(2):245-56. doi: 10.1007/s10549-016-3948-z. Epub 2016 Aug 23.
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Sep;159(2):385-92. doi: 10.1007/s10549-016-3944-3. Epub 2016 Aug 20.
    • An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium.
    • Haddad SA, Ruiz-Narváez EA, Haiman CA, Sucheston-Campbell LE, Bensen JT, Zhu Q, Liu S, Yao S, Bandera EV, Rosenberg L, Olshan AF, Ambrosone CB, Palmer JR, Lunetta KL.
    • Carcinogenesis. 2016 Sep;37(9):870-877. doi: 10.1093/carcin/bgw067. Epub 2016 Jun 7.
    • A Review of Whole Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.
    • Chandler MR, Bilgili EP, Merner ND.
    • Hum Mutat. 2016 Sep;37(9):835-46. doi: 10.1002/humu.23017. Epub 2016 Jun 27.
    • Review
    • Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
    • Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H.
    • Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.

    In This Issue:

    Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.

    • Hereditary breast and ovarian cancer: new genes in confined pathways.
    • Nielsen FC, van Overeem Hansen T, Sørensen CS.
    • Nat Rev Cancer. 2016 Sep;16(9):599-612. doi: 10.1038/nrc.2016.72. Epub 2016 Aug 12.
    • Review
    • Ovarian cancer.
    • Matulonis UA, Sood AK, Fallowfield L, Howitt BE, Sehouli J, Karlan BY.
    • Nat Rev Dis Primers. 2016 Aug 25;2:16061. doi: 10.1038/nrdp.2016.61.
    • Review
    • NCI Launches Large Study of Breast Cancer Genetics in Black Women
    • Jennifer Abbasi
    • JAMA. 2016 Aug 23;316(8):808. doi:10.1001/jama.2016.11180.
    • News
    • Reevaluation of RINT1 as a breast cancer predisposition gene.
    • Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, Investigators L, Wong-Brown MW, Scott RJ, Trainer AH, Gorringe KL, James PA, Campbell IG.
    • Breast Cancer Res Treat. 2016 Aug 20. [Epub ahead of print]
    • Can Pancreatic Cancer Be Inherited?
    • [No author given]
    • Insight. Dana-Farber Cancer Institute. 2016 Aug 17.
    • Primary Peritoneal Carcinoma in a BRCA1/2-negative, PALB2-positive patient.
    • Kahn R, Garcia-Soto A, Silva-Smith R, Pinto A, George SH.
    • Gynecol Oncol Rep. 2016 Aug 2;17:93-5. doi: 10.1016/j.gore.2016.08.001. eCollection 2016.
    • Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
    • Lener MR, Scott RJ, Kluźniak W, Baszuk P, Cybulski C, Wiechowska-Kozłowska A, Huzarski T, Byrski T, Kładny J, Pietrzak S, Soluch A, Jakubowska A, Lubiński J.
    • Int J Cancer. 2016 Aug 1;139(3):601-6. doi: 10.1002/ijc.30116. Epub 2016 Apr 18.
    • A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.
    • Donenberg T, Ahmed H, Royer R, Zhang S, Narod SA, George S, Akbari MR, Ali J, Hurley J.
    • Breast Cancer Res Treat. 2016 Aug;159(1):131-8. doi: 10.1007/s10549-016-3870-4. Epub 2016 Jul 28.
    • Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.
    • Muranen TA, Mavaddat N, Khan S, Fagerholm R, Pelttari L, Lee A, Aittomäki K, Blomqvist C, Easton DF, Nevanlinna H.
    • Breast Cancer Res Treat. 2016 Aug;158(3):463-9. doi: 10.1007/s10549-016-3897-6. Epub 2016 Jul 20.
    • CAG repeat size in Huntingtin alleles is associated with cancer prognosis.
    • Thion MS, Tézenas du Montcel S, Golmard JL, Vacher S, Barjhoux L, Sornin V, Cazeneuve C, Bièche I, Sinilnikova O, Stoppa-Lyonnet D, Durr A, Humbert S.
    • Eur J Hum Genet. 2016 Aug;24(9):1310-5. doi: 10.1038/ejhg.2016.13. Epub 2016 Mar 16.
    • Polymorphisms in cancer susceptibility genes XRCC1, RAD51 and TP53 and the risk of breast cancer in Serbian women.
    • Krivokuca AM, Cavic MR, Malisic EJ, Rakobradovic JD, Kolarevic-Ivankovic D, Tomasevic ZI, Brankovic-Magic MV.
    • Int J Biol Markers. 2016 Jul 30;31(3):e258-63. doi: 10.5301/jbm.5000201.
    • Are genetic testing criteria redundant in the light of next generation sequencing technologies?
    • Charlotte Warren-Gash.
    • PHG Foundation. 2016 July 29.

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

    • Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients.
    • Obermeier K, Sachsenweger J, Friedl TW, Pospiech H, Winqvist R, Wiesmüller L.
    • Oncogene. 2016 Jul 21;35(29):3796-806. doi: 10.1038/onc.2015.448. Epub 2015 Dec 7.
    • Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing.
    • Qiu J, Guan J, Yang X, Wu J, Liu G, Di G, Chen C, Hou Y, Han Q, Shen Z, Shao Z, Hu Z.
    • PLoS One. 2016 Jul 18;11(7):e0158531. doi: 10.1371/journal.pone.0158531. eCollection 2016.
    • Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJ, Schmidt MK, Collée JM, Cornelissen S, Lamping R, Nieuwlaat A, Foekens JA, Hooning MJ, Verhoef S, van den Ouweland AM, Hogervorst FB, Martens JW, Hollestelle A.
    • Sci Rep. 2016 Jul 18;6:30026. doi: 10.1038/srep30026.
    • A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.
    • Rashid MU, Naeemi H, Muhammad N, Loya A, Yusuf MA, Lubiński J, Jakubowska A, Hamann U.
    • Hered Cancer Clin Pract. 2016 Jul 12;14:14. doi: 10.1186/s13053-016-0056-3. eCollection 2016.
    • The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population.
    • Plonis J, Kalniete D, Nakazawa-Miklasevica M, Irmejs A, Vjaters E, Gardovskis J, Miklasevics E.
    • Balkan J Med Genet. 2016 Jul 9;18(2):33-36. eCollection 2015.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • NIH launches largest-ever study of breast cancer genetics in black women.
    • [No author given]
    • NIH. 2016 Jul 6.
    • Analysis of BRIP1 Variants Among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Cancer Res Treat. 2016 Jul;48(3):955-61. doi: 10.4143/crt.2015.191. Epub 2016 Jan 19.
    • The risk of new-onset cancer associated with HFE C282Y and H63D mutations: evidence from 87,028 participants.
    • Lv YF, Chang X, Hua RX, Yan GN, Meng G, Liao XY, Zhang X, Guo QN.
    • J Cell Mol Med. 2016 Jul;20(7):1219-33. doi: 10.1111/jcmm.12764. Epub 2016 Feb 19.
    • Second Primary Cancers After Primary Breast Cancer Diagnosis in Israeli Women, 1992 to 2006.
    • Silverman BG, Lipshitz I, Keinan-Boker L.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.003699. [Epub ahead of print]
    • Prevalence of Triple-Negative Breast Cancer in India: Systematic Review and Meta-Analysis.
    • Sandhu GS, Erqou S, Patterson H, Mathew A.
    • J Glob Oncol. 2016 Jun 29. doi: 10.1200/JGO.2016.005397. [Epub ahead of print]
    • Common genetic susceptibility to DCIS and invasive ductal carcinoma.
    • Sopik V, Narod SA.
    • Breast Cancer Res. 2016 Jun 10;18(1):60. doi: 10.1186/s13058-016-0719-z.

    Genetic predisposition to ductal carcinoma in situ of the breast.

    • ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.
    • Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallée M, Voegele C; Breast Cancer Family Registry, Hopper JL, Andrulis IL, Southey MC, John EM, Masson JY, Tavtigian SV, Simard J.
    • PLoS One. 2016 Jun 7;11(6):e0156820. doi: 10.1371/journal.pone.0156820. eCollection 2016.
    • Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
    • Warren-Gash C, Kroese M, Burton H, Pharoah P.
    • Hered Cancer Clin Pract. 2016 Jun 1;14:12. doi: 10.1186/s13053-016-0052-7. eCollection 2016.

    Press: Are genetic testing criteria redundant in the light of next generation sequencing technologies? (PHG Foundation)

    • Germline RECQL mutations in high risk Chinese breast cancer patients.
    • Kwong A, Shin VY, Cheuk IW, Chen J, Au CH, Ho DN, Chan TL, Ma ES, Akbari MR, Narod SA.
    • Breast Cancer Res Treat. 2016 Jun;157(2):211-5. doi: 10.1007/s10549-016-3784-1. Epub 2016 Apr 28.
    • Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
    • Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P.
    • Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, Lopes da Silva Filho A, Friedman E.
    • Cancer Genet. 2016 Jun;209(6):283-4. doi: 10.1016/j.cancergen.2016.04.057. Epub 2016 Apr 22.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

    • Genetic testing for hereditary breast cancer in Asia-moving forward.
    • Kwong A.
    • Chin Clin Oncol. 2016 Jun;5(3):47. doi: 10.21037/cco.2016.05.11.
    • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Goudie C, Ramos P, Boshari T, Brunet JS, Karnezis AN, Longy M, Knost JA, Saloustros E, McCluggage WG, Stewart CJ, Hendricks WP, Cunliffe H, Huntsman DG, Pautier P, Levine DA, Trent JM, Berchuck A, Hasselblatt M, Foulkes WD.
    • Gynecol Oncol. 2016 Jun;141(3):454-60. doi: 10.1016/j.ygyno.2016.03.013. Epub 2016 Mar 19.
    • Detection of Human Papillomavirus Genotypes and Major BRCA Mutations in Familial Breast Cancer.
    • Mohtasebi P, Rassi H, Maleki F, Hajimohammadi S, Bagheri Z, Fakhar Miandoab M, Naserbakht M.
    • Monoclon Antib Immunodiagn Immunother. 2016 Jun;35(3):135-40. doi: 10.1089/mab.2015.0081. Epub 2016 May 17.
    • Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
    • Mills AM, Longacre TA.
    • Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.
    • Review
    • Germline APOBEC3B deletion is associated with breast cancer risk in an Asian multi-ethnic cohort and with immune cell presentation.
    • Wen WX, Soo JS, Kwan PY, Hong E, Khang TF, Mariapun S, Lee CS, Hasan SN, Rajadurai P, Yip CH, Mohd Taib NA, Teo SH.
    • Breast Cancer Res. 2016 May 27;18(1):56. doi: 10.1186/s13058-016-0717-1.
    • Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
    • Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro , Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P.
    • Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363.
    • Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation.
    • Andrade KC, Santiago KM, Fortes FP, Mambelli LI, Nóbrega AF, Achatz MI.
    • Genet Mol Biol. 2016 May 24;39(2):199-202. doi: 10.1590/1678-4685-GMB-2014-0343.
    • RAD51B in Familial Breast Cancer.
    • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.
    • Benitez-Buelga C, Vaclová T, Ferreira S, Urioste M, Inglada-Perez L, Soberón N, Blasco MA, Osorio A, Benitez J.
    • Oncotarget. 2016 May 3;7(18):25815-25. doi: 10.18632/oncotarget.8272.
    • Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population.
    • Jiang W, Zhuang C, Zheng L, Wang X.
    • Genet Test Mol Biomarkers. 2016 May;20(5):229-34. doi: 10.1089/gtmb.2015.0303. Epub 2016 Mar 16.
    • Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.
    • Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PC, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.
    • Gynecol Oncol. 2016 May;141(2):318-22. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.
    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
    • Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomäki K, Anton-Culver H, Arndt V; Australian Ovarian Cancer Study Group, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, García-Closas M, Giles GG, Glendon G, González-Neira A, Guénel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D; kConFab Investigators, Kosma VM, Kristensen V, Lambrechts D, Li N; Lifepool Investigators, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K; NBCS Investigators, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkäs K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dörk T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G.
    • J Med Genet. 2016 May;53(5):298-309. doi: 10.1136/jmedgenet-2015-103529. Epub 2016 Feb 26.

    Commentary

    Risky business: getting a grip on BRIP.

    • Podcast: Don't Allow The Wrong Genetic Test To Be Ordered For Your Family.
    • Ellen T. Matloff.
    • My Gene Counsel. 2016 Apr 26.
    • Beyond BRCA: CHEK2.
    • [No author given]
    • My Gene Counsel. 2016 Apr 21.
    • PALB2: research reaching to clinical outcomes for women with breast cancer.
    • Southey MC, Winship I, Nguyen-Dumont T.
    • Hered Cancer Clin Pract. 2016 Apr 19;14:9. doi: 10.1186/s13053-016-0049-2. eCollection 2016.
    • Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.
    • Näslund-Koch C, Nordestgaard BG, Bojesen SE.
    • J Clin Oncol. 2016 Apr 10;34(11):1208-16. doi: 10.1200/JCO.2015.63.3594. Epub 2016 Feb 16.
    • NCCN Adds New Gene Mutations to Consider in Women's Cancers.
    • Fran Lowry.
    • Medscape Medical News. Oncology. National Comprehensive Cancer Network (NCCN) 21st Annual Conference. 2016 Apr 4.
    • Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
    • Ghazwani Y, AlBalwi M, Al-Abdulkareem I, Al-Dress M, Alharbi T, Alsudairy R, Alomari A, Aljamaan K, Essa M, Al-Zahrani M, Alsultan A.
    • Cancer Genet. 2016 Apr;209(4):171-6. doi: 10.1016/j.cancergen.2016.02.003. Epub 2016 Feb 15.
    • Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.
    • Poumpouridou N, Goutas N, Tsionou C, Dimas K, Lianidou E, Kroupis C.
    • Fam Cancer. 2016 Apr;15(2):183-91. doi: 10.1007/s10689-015-9851-7.
    • CDH1 germline mutations and hereditary lobular breast cancer.
    • Corso G, Intra M, Trentin C, Veronesi P, Galimberti V.
    • Fam Cancer. 2016 Apr;15(2):215-9. doi: 10.1007/s10689-016-9869-5.
    • Review
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.
    • Nakagomi H, Sakamoto I, Hirotsu Y, Amemiya K, Mochiduki H, Omata M.
    • Int J Clin Oncol. 2016 Apr;21(2):270-5. doi: 10.1007/s10147-015-0906-4. Epub 2015 Sep 28.
    • A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
    • Huszno J, Budryk M, Kołosza Z, Tęcza K, Pamuła Piłat J, Nowara E, Grzybowska E.
    • Oncology. [2016 Apr;]90(4):193-8. doi: 10.1159/000444326. Epub 2016 Mar 19.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Novel SYK gene variations and changes in binding sites of miRs in breast cancer patients.
    • Faryal R, Ishfaq M, Hayat T, Mahjabeen I, Kayani MA.
    • Cancer Biomark. 2016 Mar 30;16(3):319-26. doi: 10.3233/CBM-160569.
    • Genetics of triple-negative breast cancer: Implications for patient care.
    • Afghahi A, Telli ML, Kurian AW.
    • Curr Probl Cancer. 2016 Mar - Aug;40(2-4):130-140. doi: 10.1016/j.currproblcancer.2016.09.007. Epub 2016 Sep 23.
    • Review
    • Implementation of a risk assessment program in a breast-imaging community practice.
    • Destounis S, Arieno A, Morgan R.
    • Breast Cancer. 2016 Mar;23(2):273-8. doi: 10.1007/s12282-014-0569-4. Epub 2014 Oct 7.
    • Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations.
    • Hong S, Funchain P, Haddad A, Crowe J, Dalpiaz N, Abraham J.
    • J Oncol Pract. 2016 Mar;12(3):270-2. doi: 10.1200/JOP.2016.010710.
    • Case report
    • ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
    • Villacis RA, Abreu FB, Miranda PM, Domingues MA, Carraro DM, Santos EM, Andrade VP, Rossi BM, Achatz MI, Rogatto SR.
    • Tumour Biol. 2016 Mar;37(3):3145-53. doi: 10.1007/s13277-015-4145-0. Epub 2015 Oct 1.
    • [PTEN and NBS1 gene mutations in familial breast cancer and early-onset breast cancer from Hunan Province in China].
    • Wu Y, Jiang B, Dai X, Hu X, Wang S, Jiang P, Hu Y, Huang J.
    • Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2016 Feb 28;41(2):121-6. doi: 10.11817/j.issn.1672-7347.2016.02.002.
    • Genetic predisposition to ductal carcinoma in situ of the breast.
    • Petridis C, Brook MN, Shah V, Kohut K, Gorman P, Caneppele M, Levi D, Papouli E, Orr N, Cox A, Cross SS, Dos-Santos-Silva I, Peto J, Swerdlow A, Schoemaker MJ, Bolla MK, Wang Q, Dennis J, Michailidou K, Benitez J, González-Neira A, Tessier DC, Vincent D, Li J, Figueroa J, Kristensen V, Borresen-Dale AL, Soucy P, Simard J, Milne RL, Giles GG, Margolin S, Lindblom A, Brüning T, Brauch H, Southey MC, Hopper JL, Dörk T, Bogdanova NV, Kabisch M, Hamann U, Schmutzler RK, Meindl A, Brenner H, Arndt V, Winqvist R, Pylkäs K, Fasching PA, Beckmann MW, Lubinski J, Jakubowska A, Mulligan AM, Andrulis IL, Tollenaar RA, Devilee P, Le Marchand L, Haiman CA, Mannermaa A, Kosma VM, Radice P, Peterlongo P, Marme F, Burwinkel B, van Deurzen CH, Hollestelle A, Miller N, Kerin MJ, Lambrechts D, Floris G, Wesseling J, Flyger H, Bojesen SE, Yao S, Ambrosone CB, Chenevix-Trench G, Truong T, Guénel P, Rudolph A, Chang-Claude J, Nevanlinna H, Blomqvist C, Czene K, Brand JS, Olson JE, Couch FJ, Dunning AM, Hall P, Easton DF, Pharoah PD, Pinder SE, Schmidt MK, Tomlinson I, Roylance R, García-Closas M, Sawyer EJ.
    • Breast Cancer Res. 2016 Feb 17;18(1):22. doi: 10.1186/s13058-016-0675-7.

    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

    • Beyond BRCA: Testing negative and living in the 'gray zone' for cancer risk.
    • [No author given]
    • My Gene Counsel. 2016 Feb 16.
    • Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
    • Wojcik P, Jasiowka M, Strycharz E, Sobol M, Hodorowicz-Zaniewska D, Skotnicki P, Byrski T, Blecharz P, Marczyk E, Cedrych I, Jakubowicz J, Lubiński J, Sopik V, Narod S, Pierzchalski P.
    • Hered Cancer Clin Pract. 2016 Feb 3;14:5. doi: 10.1186/s13053-016-0046-5. eCollection 2016.
    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
    • Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
    • Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
    • GENESIS: a French national resource to study the missing heritability of breast cancer.
    • Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N.
    • BMC Cancer. 2016 Jan 12;16(1):13. doi: 10.1186/s12885-015-2028-9.
    • BRIP1, a potential candidate gene in development of non-BRCA1/2 breast cancer.
    • Ouhtit A, Gupta I, Shaikh Z.
    • Front Biosci (Elite Ed). 2016 Jan 1;8:289-98.
    • Review
    • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
    • Mahon SM.
    • Oncol Nurs Forum. 2016 Jan 1;43(1):114-7. doi: 10.1188/16.ONF.114-117.
    • Review
    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, da Silva Filho AL, Friedman E.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
    • Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
    • Jønson L, Ahlborn LB, Steffensen AY, Djursby M, Ejlertsen B, Timshel S, Nielsen FC, Gerdes AM, Hansen TV.
    • Breast Cancer Res Treat. 2016 Jan;155(2):215-22. doi: 10.1007/s10549-015-3674-y. Epub 2016 Jan 6.
    • Screening of HELQ in breast and ovarian cancer families.
    • Pelttari LM, Kinnunen L, Kiiski JI, Khan S, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Fam Cancer. 2016 Jan;15(1):19-23. doi: 10.1007/s10689-015-9838-4.
    • Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.
    • Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.
    • Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.
    • Case report
    • 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
    • Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2.
    • Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS.
    • Semin Radiat Oncol. 2016 Jan;26(1):3-8. doi: 10.1016/j.semradonc.2015.09.004. Epub 2015 Sep 4.
    • Genomic Biomarkers for Breast Cancer Risk.
    • Walsh MF, Nathanson KL, Couch FJ, Offit K.
    • Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1.
    • Review
    • Breast Cancer Risk Based on the Gail Model and its Predictors in Iranian Women.
    • Mirghafourvand M, Mohammad-Alizadeh-Charandabi S, Ahmadpour P, Rahi P.
    • Asian Pac J Cancer Prev. 2016;17(8):3741-5.
    • BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.
    • Apsalikov B, Manambaeva Z, Ospanov E, Massabayeva M, Zhabagin K, Zhagiparova Z, Maximov V, Voropaeva E, Apsalikov K, Belikhina T, Abdrahmanov R, Cherepkova E, Tanatarov S, Massadykov A, Urazalina N.
    • Asian Pac J Cancer Prev. 2016;17(8):4059-62.
    • Breast Cancer in Pakistan a Critical Appraisal of the Situation Regarding Female Health and Where the Nation Stands?
    • Basra MA, Saher M, Athar MM, Raza MH.
    • Asian Pac J Cancer Prev. 2016;17(7):3035-41.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar M, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(7):3623-6.
    • Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan.
    • Baloch AH, Khosa AN, Bangulzai N, Shuja J, Naseeb HK, Jan M, Marghazani IB, Kakar MU, Baloch DM, Cheema AM, Ahmad J.
    • Asian Pac J Cancer Prev. 2016;17(3):1089-92.
    • Evaluation of the Relationship Between Family History of Breast Cancer and Risk Perception and Impacts on Repetition of Mammography.
    • Khoshravesh S, Taymoori P, Roshani D.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:135-41.
    • Breast Cancer in Africa: Limitations and Opportunities for Application of Genomic Medicine.
    • Silverstein A, Sood R, Costas-Chavarri A.
    • Int J Breast Cancer. 2016;2016:4792865. doi: 10.1155/2016/4792865. Epub 2016 Jun 16.
    • [CHEK2-associated hereditary breast cancer].
    • Bessonov AA, Iyevleva AG, Imyanitov EN, Sokolenko AP.
    • Vopr Onkol. 2016;62(6):753-757.
    • Review, [Article in Russian]
    • Clinical relevance of CHEK2 and NBN mutations in the macedonian population.
    • Kostovska IM, Jakimovska M, Kubelka-Sabit K, Karadjozov M, Arsovski A, Stojanovska L, Plaseska-Karanfilska D.
    • Balkan J Med Genet. 2015 Dec 30;18(1):47-54. doi: 10.1515/bjmg-2015-0005. eCollection 2015.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

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

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    • [Article in Chinese]
    • [PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic].
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    • Klin Onkol. 2015 Winter;29 Suppl 1:31-4.
    • Review, [Article in Czech]
    • Mutation analysis of PALB2 gene in French breast cancer families.
    • Damiola F, Schultz I, Barjhoux L, Sornin V, Dondon MG, Eon-Marchais S, Marcou M; GENESIS Study Investigators, Caron O, Gauthier-Villars M, de Pauw A, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard C, Pujol P, Lasset C, Longy M, Bignon YJ, Fricker JP, Andrieu N, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Muller D.
    • Breast Cancer Res Treat. 2015 Dec;154(3):463-71. doi: 10.1007/s10549-015-3625-7. Epub 2015 Nov 12.
    • Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
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    • Hum Mutat. 2015 Dec;36(12):1205-14. doi: 10.1002/humu.22902. Epub 2015 Sep 22.
    • RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
    • Krivokuca A, Yanowski K, Rakobradovic J, Benitez J, Brankovic-Magic M.
    • Cancer Biomark. 2015 Nov 24;15(6):775-81. doi: 10.3233/CBM-150519.
    • BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
    • Francies FZ, Wainstein T, De Leeneer K, Cairns A, Murdoch M, Nietz S, Cubasch H, Poppe B, Van Maerken T, Crombez B, Coene I, Kerr R, Slabbert JP, Vral A, Krause A, Baeyens A, Claes KB.
    • BMC Cancer. 2015 Nov 17;15:912. doi: 10.1186/s12885-015-1913-6.
    • RECQL: a new breast cancer susceptibility gene.
    • Banerjee T, Brosh RM Jr.
    • Cell Cycle. 2015 Nov 17;14(22):3540-3. doi: 10.1080/15384101.2015.1066539.
    • Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.
    • Ratajska M, Matusiak M, Kuzniacka A, Wasag B, Brozek I, Biernat W, Koczkowska M, Debniak J, Sniadecki M, Kozlowski P, Klonowska K, Pilyugin M, Wydra D, Laurent G, Limon J, Irminger-Finger I.
    • Oncol Rep. 2015 Nov;34(5):2609-17. doi: 10.3892/or.2015.4235. Epub 2015 Sep 1.
    • PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.
    • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, WuwaliKhan F, Ayoufu A, Ou JH.
    • Eur J Med Res. 2015 Oct 21;20(1):85. doi: 10.1186/s40001-015-0182-9.
    • Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
    • Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.
    • PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.
    • A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
    • Wang N, Ding H, Liu C, Li X, Wei L, Yu J, Liu M, Ying M, Gao W, Jiang H, Wang Y.
    • Oncogene. 2015 Oct 1;34(40):5198-205. doi: 10.1038/onc.2014.443. Epub 2015 Jan 26.
    • Genetic testing for RAD51C mutations: in the clinic and community.
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    • Clin Genet. 2015 Oct;88(4):303-12. doi: 10.1111/cge.12548. Epub 2015 Jan 7.
    • Review
    • MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
    • Maresca L, Spugnesi L, Lodovichi S, Cozzani C, Naccarato AG, Tancredi M, Collavoli A, Falaschi E, Rossetti E, Aretini P, Cervelli T, Galli A, Caligo MA.
    • Eur J Med Genet. 2015 Oct;58(10):531-9. doi: 10.1016/j.ejmg.2015.09.005. Epub 2015 Sep 14.
    • Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
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    • Iran J Public Health. 2015 Oct;44(10):1348-1352.
    • Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers.
    • Kriege M, Jager A, Hollestelle A, Berns EM, Blom J, Meijer-van Gelder ME, Sieuwerts AM, van den Ouweland A, Collée JM, Kroep JR, Martens JW, Hooning MJ, Seynaeve C.
    • J Cancer Res Clin Oncol. 2015 Oct;141(10):1879-87. doi: 10.1007/s00432-015-1981-7. Epub 2015 May 10.
    • FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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    • Clin Cancer Res. 2015 Sep 15;21(18):4086-96. doi: 10.1158/1078-0432.CCR-15-0296. Epub 2015 May 11.
    • Meta-Analysis
    • Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
    • Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD.
    • J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.
    • Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.
    • Aloraifi F, McCartan D, McDevitt T, Green AJ, Bracken A, Geraghty J.
    • Cancer Genet. 2015 Sep;208(9):455-63. doi: 10.1016/j.cancergen.2015.06.001. Epub 2015 Jun 14.
    • Meta-Analysis
    • Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.
    • Vietri MT, Caliendo G, Schiano C, Casamassimi A, Molinari AM, Napoli C, Cioffi M.
    • Fam Cancer. 2015 Sep;14(3):341-8. doi: 10.1007/s10689-015-9786-z.
    • Letter
    • Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.
    • Kim H, Cho DY, Choi DH, Jung GH, Shin I, Park W, Huh SJ, Kim SW, Park SK, Lee JW, Nam SJ, Lee JE, Gil WH, Kim SW.
    • Fam Cancer. 2015 Sep;14(3):365-71. doi: 10.1007/s10689-015-9789-9.
    • A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
    • Hansen MF, Johansen J, Bjørnevoll I, Sylvander AE, Steinsbekk KS, Sætrom P, Sandvik AK, Drabløs F, Sjursen W.
    • Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2.
    • Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
    • Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators, Mitchell G, James PA, Scott RJ, Campbell IG.
    • Breast Cancer Res. 2015 Aug 19;17(1):111. doi: 10.1186/s13058-015-0627-7.
    • Genetic Testing Can Lead to Insights — Or Uncertainty.
    • Lauren M. Green.
    • Cure. 2015 Aug 13.
    • Breast cancer risk in women with PALB2 mutations in different populations.
    • Antoniou AC, Foulkes WD, Tischkowitz M; PALB2 Interest Group.
    • Lancet Oncol. 2015 Aug;16(8):e375-6. doi: 10.1016/S1470-2045(15)00002-9.

    Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

    • 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.
    • Absence of the FANCM c.5101C>T mutation in BRCA1/2-negative triple-negative breast cancer patients from Pakistan.
    • Rashid MU, Muhammad N, Khan FA, Hamann U.
    • Breast Cancer Res Treat. 2015 Jul;152(1):229-30. doi: 10.1007/s10549-015-3457-5. Epub 2015 Jun 12.
    • Letter
    • African Americans and Hispanics Remain at Lower Risk of Ovarian Cancer Than Non-Hispanic Whites after Considering Nongenetic Risk Factors and Oophorectomy Rates.
    • Wu AH, Pearce CL, Tseng CC, Pike MC.
    • Cancer Epidemiol Biomarkers Prev. 2015 Jul;24(7):1094-100. doi: 10.1158/1055-9965.EPI-15-0023. Epub 2015 Apr 14.
    • Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
    • Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R.
    • Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30.
    • Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden.
    • Wendt C, Lindblom A, Arver B, von Wachenfeldt A, Margolin S.
    • Hered Cancer Clin Pract. 2015 Jun 16;13(1):15. doi: 10.1186/s13053-015-0036-z. eCollection 2015.
    • Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
    • Janatova M, Soukupova J, Stribrna J, Kleiblova P, Vocka M, Boudova P, Kleibl Z, Pohlreich P.
    • PLoS One. 2015 Jun 9;10(6):e0127711. doi: 10.1371/journal.pone.0127711. eCollection 2015.
    • Curating the Way to Better Determinants of Genetic Risk.
    • Phimister EG.
    • N Engl J Med. 2015 Jun 4;372(23):2227-2228. Epub 2015 May 27.
    • Editorial / Commentary
    • Breast cancer in women in their thirties (2007-2013): A retrospective review.
    • Arleo EK, Reichman M, Dashevsky BZ, Babagbemi K, Drotman M.
    • Breast Dis. 2015 Jun 1;35(2):87-93. doi: 10.3233/BD-150400.
    • Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
    • Loke J, Pearlman A, Upadhyay K, Tesfa L, Shao Y, Ostrer H.
    • Hum Mol Genet. 2015 Jun 1;24(11):3030-7. doi: 10.1093/hmg/ddv048. Epub 2015 Feb 4.
    • Interpretation of genomic variation and disease association: the great missense mutation challenge!
    • Nguyen-Dumont T, Winship I, Southey MC.
    • Breast Cancer Res Treat. 2015 Jun;151(2):475-6. doi: 10.1007/s10549-015-3394-3. Epub 2015 Apr 22.
    • Comment, Letter

    Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.

    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
    • Clin J Oncol Nurs. 2015 Jun;19(3):244. doi: 10.1188/15.CJON.244.
    • Comment, Letter

    Biologic, demographic, and social factors affecting triple negative breast cancer outcomes.

    • Breast Cancer Risk Gene Discovery: Opportunities and Challenges.
    • Fabienne Lesueur.
    • Current Genetic Medicine Reports 3(2):8-91. 2015 Jun.
    • Review
    • Analysis of PTEN in two BRCA1 and BRCA2 wild-type familial breast cancer patients.
    • Akouchekian M, Hemati S, Kachoei ZA.
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    • Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Jakubowska A, Szwiec M, Byrski T, Dębniak T, Górski B, Sopik V, Akbari MR, Sun P, Gronwald J, Narod SA, Lubiński J; Polish Hereditary Breast Cancer Consortium.
    • Lancet Oncol. 2015 Jun;16(6):638-644. doi: 10.1016/S1470-2045(15)70142-7. Epub 2015 May 7.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: PALB2 breast cancer recurrence

    Comment / Letter

    Effect of PALB2 status on breast cancer precision medicine.

    Comment / Letter

    Breast cancer risk in women with PALB2 mutations in different populations.

    Press: PALB2 Gene Mutation May Put Women at Increased Risk of Breast Cancer. (Medscape / Reuters Health)

    • Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
    • Ancot F, Arcand SL, Mes-Masson AM, Provencher DM, Tonin PN.
    • Oncol Lett. 2015 Jun;9(6):2787-2790. Epub 2015 Apr 20.
    • Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.
    • Klonowska K, Ratajska M, Czubak K, Kuzniacka A, Brozek I, Koczkowska M, Sniadecki M, Debniak J, Wydra D, Balut M, Stukan M, Zmienko A, Nowakowska B, Irminger-Finger I, Limon J, Kozlowski P.
    • Sci Rep. 2015 May 21;5:10424. doi: 10.1038/srep10424.
    • Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.
    • Downs B, Kim YC, Xiao F, Snyder C, Chen P, Fleissner EA, Becirovic D, Wen H, Sherman S, Cowan KH, Lynch HT, Wang SM.
    • Breast Cancer Res Treat. 2015 May;151(1):219-24. doi: 10.1007/s10549-015-3358-7. Epub 2015 Apr 2.

    Comment / Letter

    Interpretation of genomic variation and disease association: the great missense mutation challenge!

    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

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

    • Germline TP53 mutational spectrum in French Canadians with breast cancer.
    • Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.
    • BMC Med Genet. 2015 Apr 12;16(1):24.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Prevalence of PALB2 mutations in the Creighton University Breast Cancer Family Registry.
    • Snyder C, Metcalfe K, Sopik V, Royer R, Zhang S, Narod SA, Akbari MR, Lynch HT.
    • Breast Cancer Res Treat. 2015 Apr;150(3):637-41. doi: 10.1007/s10549-015-3347-x. Epub 2015 Mar 21.
    • CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.
    • Apostolou P, Fostira F, Papamentzelopoulou M, Michelli M, Panopoulos C, Fountzilas G, Konstantopoulou I, Voutsinas GE, Yannoukakos D.
    • Cancer Genet. 2015 Apr;208(4):129-34. doi: 10.1016/j.cancergen.2015.02.006. Epub 2015 Feb 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.
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    • Case report
    • Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
    • Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, Nagy R, Kloos RT, Ringel MD, LaFramboise T, Eng C.
    • Endocr Relat Cancer. 2015 Apr;22(2):121-30. doi: 10.1530/ERC-14-0537.
    • Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer.
    • Liu Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • BMC Cancer. 2015 Mar 28;15:194. doi: 10.1186/s12885-015-1203-3.
    • ICan: An Integrated Co-Alteration Network to Identify Ovarian Cancer-Related Genes.
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    • PLoS One. 2015 Mar 24;10(3):e0116095. doi: 10.1371/journal.pone.0116095. eCollection 2015.
    • Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.
    • Ahlborn LB, Steffensen AY, Jønson L, Djursby M, Nielsen FC, Gerdes AM, Hansen TV.
    • Fam Cancer. 2015 Mar;14(1):129-33. doi: 10.1007/s10689-014-9747-y.
    • Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.
    • Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ.
    • J Breast Cancer. 2015 Mar;18(1):97-100. doi: 10.4048/jbc.2015.18.1.97. Epub 2015 Mar 27.
    • A novel PALB2 truncating mutation in an Italian family with male breast cancer.
    • Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, Molinari AM.
    • Oncol Rep. 2015 Mar;33(3):1243-7. doi: 10.3892/or.2014.3685. Epub 2014 Dec 22.
    • RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families.
    • Pelttari LM, Kiiski JI, Ranta S, Vilske S, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Springerplus. 2015 Feb 24;4:92. doi: 10.1186/s40064-015-0880-3. eCollection 2015.
    • The FEN1 E359K germline mutation disrupts the FEN1-WRN interaction and FEN1 GEN activity, causing aneuploidy-associated cancers.
    • Chung L, Onyango D, Guo Z, Jia P, Dai H, Liu S, Zhou M, Lin W, Pang I, Li H, Yuan YC, Huang Q, Zheng L, Lopes J, Nicolas A, Chai W, Raz D, Reckamp KL, Shen B.
    • Oncogene. 2015 Feb 12;34(7):902-11. doi: 10.1038/onc.2014.19. Epub 2014 Mar 10.
    • Lobular breast cancer: molecular basis, mouse and cellular models.
    • Christgen M, Derksen P.
    • Breast Cancer Res. 2015 Feb 8;17:16. doi: 10.1186/s13058-015-0517-z.
    • The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population.
    • Marouf C, Hajji O, Diakité B, Tazzite A, Jouhadi H, Benider A, Nadifi S.
    • Springerplus. 2015 Feb 1;4:38. doi: 10.1186/s40064-014-0778-5. eCollection 2015.
    • Genotype/Phenotype correlations in patients with hereditary breast cancer.
    • Wittersheim M, Büttner R, Markiefka B.
    • Breast Care (Basel). 2015 Feb;10(1):22-6. doi: 10.1159/000380900.
    • Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
    • Baker JL, Schwab RB, Wallace AM, Madlensky L.
    • Clin Breast Cancer. 2015 Feb;15(1):e71-5. doi: 10.1016/j.clbc.2014.08.005. Epub 2014 Sep 23.
    • Case Report, Review
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
    • Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR; KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.
    • 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.
    • Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia.
    • Mohamad S, Isa NM, Muhammad R, Emran NA, Kitan NM, Kang P, Kang IN, Taib NA, Teo SH, Akmal SN.
    • PLoS One. 2015 Jan 28;10(1):e0117104. doi: 10.1371/journal.pone.0117104. eCollection 2015.
    • ATM gene mutations in sporadic breast cancer patients from Brazil.
    • Mangone FR, Miracca EC, Feilotter HE, Mulligan LM, Nagai MA.
    • Springerplus. 2015 Jan 15;4:23. doi: 10.1186/s40064-015-0787-z. eCollection 2015.
    • PALB2 and the Risks for Cancer: Implications for Clinical Care.
    • Smith EC.
    • Oncol Nurs Forum. 2015 Jan 1;42(1):100-2. doi: 10.1188/15.ONF.100-102.
    • Review
    • Considerations for comprehensive assessment of genetic predisposition in familial breast cancer.
    • Lynch H, Synder C, Wang SM.
    • Breast J. 2015 Jan-Feb;21(1):67-75. doi: 10.1111/tbj.12358. Epub 2014 Dec 4.
    • Review
    • 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.
    • Beyond BRCA: new hereditary breast cancer susceptibility genes.
    • Economopoulou P, Dimitriadis G, Psyrri A.
    • Cancer Treat Rev. 2015 Jan;41(1):1-8. doi: 10.1016/j.ctrv.2014.10.008. Epub 2014 Nov 6.
    • Review
    • Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
    • Somyajit K, Mishra A, Jameei A, Nagaraju G.
    • Carcinogenesis. 2015 Jan;36(1):13-24. doi: 10.1093/carcin/bgu211. Epub 2014 Oct 7.
    • Breast Cancer Susceptibility Genes.
    • Apostolou P, Vratimos A, Fostira F.
    • eLS. 2015 Jan. doi: 10.1002/9780470015902.a0025847.
    • Review
    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature.
    • Seo YN, Park YM.
    • Case Rep Med. 2015;2015:456205. doi: 10.1155/2015/456205. Epub 2015 Oct 29.
    • [CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].
    • Adank MA, Hes FJ, van Zelst-Stams WA, van den Tol MP, Seynaeve C, Oosterwijk JC.
    • Ned Tijdschr Geneeskd. 2015;159:A8910.
    • Review, [Article in Dutch]
    • Germline mutations of DICER1 in Chinese women with BRCA1/BRCA2-negative familial breast cancer.
    • Cao WM, Gao Y, Yang HJ, Xie SN, Meng XL, Pan ZW, Chen ZH, Huang J, Ye WW, Shao XY, Wang XJ.
    • Genet Mol Res. 2014 Dec 18;13(4):10754-60. doi: 10.4238/2014.December.18.16.
    • Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
    • Boesaard EP, Vogelaar IP, Bult P, Wauters CA, van Krieken JH, Ligtenberg MJ, van der Post RS, Hoogerbrugge N.
    • Hered Cancer Clin Pract. 2014 Dec 12;12(1):21. doi: 10.1186/1897-4287-12-21. eCollection 2014.
    • The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.
    • Anisimenko MS, Kozyakov AE, Paul GA, Kovalenko SP.
    • Breast Cancer Res Treat. 2014 Dec;148(3):689-90. doi: 10.1007/s10549-014-3187-0. Epub 2014 Nov 16.
    • Letter, Comment

    Meta-Analysis:

    Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

    Letter, Comment:

    The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

    • The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.
    • Imyanitov E, Prokofyeva D, Bogdanova N, Dörk T.
    • Breast Cancer Res Treat. 2014 Dec;148(3):695-6. doi: 10.1007/s10549-014-3198-x.
    • Letter, Comment

    Letter, Comment:

    The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

    Meta-Analysis:

    Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

    • Breast cancer genes: looking for BRACA's lost brother.
    • Cornejo-Moreno BA, Uribe-Escamilla D, Salamanca-Gómez F.
    • Isr Med Assoc J. 2014 Dec;16(12):787-92.
    • Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.
    • Al-Alem U, Rauscher G, Shah E, Batai K, Mahmoud A, Beisner E, Silva A, Peterson C, Kittles R.
    • PLoS One. 2014 Nov 25;9(11):e112916. doi: 10.1371/journal.pone.0112916. eCollection 2014.
    • Breast Cancer Risk Associated With CHEK2 Mutations.
    • Mahon SM.
    • Oncol Nurs Forum. 2014 Nov 1;41(6):692-4. doi: 10.1188/14.ONF.692-694.
    • Beyond BRCA1 and BRCA2.
    • King-Spohn K, Pilarski R.
    • Curr Probl Cancer. 2014 Nov-Dec;38(6):235-48. doi: 10.1016/j.currproblcancer.2014.10.004. Epub 2014 Nov 1.
    • Case report
    • Germline mutations in cancer susceptibility genes in brca1 and brca2 negative families with ovarian and breast cancer.
    • Norquist B, Harrell M, Walsh T, Mandell J, Agnew K, Lee M, Pennington K, King MC, Swisher E.
    • Gynecologic Oncology. 2014 Nov;135(2):383. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.011.
    • Conference abstract
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion L, Dolinsky J, Chao E, Monk B.
    • Gynecologic Oncology. 2014 Nov;135(2):383-4. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.012.
    • Conference abstract
    • Features of ovarian cancer in Lynch syndrome (Review).
    • Nakamura K, Banno K, Yanokura M, Iida M, Adachi M, Masuda K, Ueki A, Kobayashi Y, Nomura H, Hirasawa A, Tominaga E, Aoki D.
    • Mol Clin Oncol. 2014 Nov;2(6):909-916. Epub 2014 Aug 20.
    • Breast-cancer risk in families with mutations in PALB2.
    • Sopik V, Narod SA.
    • N Engl J Med. 2014 Oct 23;371(17):1650. doi: 10.1056/NEJMc1410673#SA1.

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Comment:

    Breast-cancer risk in families with mutations in PALB2.

    • Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
    • Brosh RM Jr, Cantor SB.
    • Front Genet. 2014 Oct 21;5:372. doi: 10.3389/fgene.2014.00372. eCollection 2014.
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
    • Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K.
    • Hum Genome Var. 2014 Oct 16;1:14012. doi: 10.1038/hgv.2014.12. eCollection 2014.
    • Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.
    • Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR.
    • Oncogene. 2014 Oct 2;33(40):4803-12. doi: 10.1038/onc.2013.421. Epub 2013 Oct 21.
    • Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.
    • Erel S, Thull DL, Soran A.
    • J Breast Health (2013). 2014 Oct 1;10(4):189. doi: 10.5152/tjbh.2014.0079. eCollection 2014.

    Breast-cancer risk in families with mutations in PALB2.

    • Breast cancer: PALB2--a new player in hereditary breast cancer.
    • Errico A.
    • Nat Rev Clin Oncol. 2014 Oct;11(10):560. doi: 10.1038/nrclinonc.2014.142. Epub 2014 Aug 19.
    • Comment

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Comment:

    Breast-cancer risk in families with mutations in PALB2.

    • Fanconi anemia pathway defects in inherited and sporadic cancers.
    • Chen H, Zhang S, Wu Z.
    • Transl Pediatr. 2014 Oct;3(4):300-4. doi: 10.3978/j.issn.2224-4336.2014.07.05.
    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
    • Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.
    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.
    • Giacomazzi J, Correia RL, Palmero EI, Gaspar JF, Almeida M, Portela C, Camey SA, Monteiro A, Pinheiro M, Peixoto A, Teixeira MR, Reis RM, Ashton-Prolla P.
    • Breast J. 2014 Sep-Oct;20(5):534-6. doi: 10.1111/tbj.12308. Epub 2014 Jul 23.
    • The histomorphology of Lynch syndrome-associated ovarian carcinomas: toward a subtype-specific screening strategy.
    • Chui MH, Ryan P, Radigan J, Ferguson SE, Pollett A, Aronson M, Semotiuk K, Holter S, Sy K, Kwon JS, Soma A, Singh N, Gallinger S, Shaw P, Arseneau J, Foulkes WD, Gilks CB, Clarke BA.
    • Am J Surg Pathol. 2014 Sep;38(9):1173-81. doi: 10.1097/PAS.0000000000000298.
    • PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
    • Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P.
    • Genet Med. 2014 Sep;16(9):688-94. doi: 10.1038/gim.2014.13. Epub 2014 Feb 20.
    • Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014.
    • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R.
    • J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.
    • Practice Guideline, NCCN Guidelines
    • PALB2 gene increases breast cancer risk.
    • Tanday S.
    • Lancet Oncol. 2014 Sep;15(10):e423.
    • News
    • Germline mutations of TP53 gene in breast cancer.
    • Damineni S, Rao VR, Kumar S, Ravuri RR, Kagitha S, Dunna NR, Digumarthi R, Satti V.
    • Tumour Biol. 2014 Sep;35(9):9219-27. doi: 10.1007/s13277-014-2176-6. Epub 2014 Jun 15.
    • Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
    • Gevensleben H, Bossung V, Meindl A, Wappenschmidt B, de Gregorio N, Osorio A, Romero A, Buettner R, Markiefka B, Schmutzler RK.
    • Virchows Arch. 2014 Sep;465(3):365-9. doi: 10.1007/s00428-014-1619-1. Epub 2014 Jul 4.
    • Letter
    • 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.
    • Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy.
    • Kriege M, Hollestelle A, Jager A, Huijts PE, Berns EM, Sieuwerts AM, Meijer-van Gelder ME, Collée JM, Devilee P, Hooning MJ, Martens JW, Seynaeve C.
    • Br J Cancer. 2014 Aug 26;111(5):1004-1013. doi: 10.1038/bjc.2014.306. Epub 2014 Jun 10.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: risk for second primary in CHEK2?

    Subject: Risk of 2nd breast cancer in CHEk2 family

    • Breast-cancer risk in families with mutations in PALB2.
    • Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M.
    • N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Negative for familial PALB2 mutation

    Subject: Initial and reflex testing to guide surgical decisions

    Comment, Editorial:

    PALB2 mutations and breast-cancer risk.

    Letters:

    Breast-cancer risk in families with mutations in PALB2.

    Letter, Review:

    Partner and Localizer of BRCA-2 (PALB-2) Mutation Analysis Is Rapidly Being Adopted into Clinical Practice.

    Research News: PALB2 and Breast Cancer Risk (FORCE)

    Press: New breast cancer gene mutation found to raise risk. (Yahoo! News)

    Press: Another Gene Mutation Increases Breast Cancer Risk. (Medscape Oncology)

    Press: PALB2 gene dramatically increases breast cancer risk. (PHG Foundation)

    Press: Study Shows Third Gene as Indicator for Breast Cancer (NY Times)

    • RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
    • Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A.
    • Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.
    • 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.
    • First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.
    • Tedaldi G, Danesi R, Zampiga V, Tebaldi M, Bedei L, Zoli W, Amadori D, Falcini F, Calistri D.
    • BMC Cancer. 2014 Jul 1;14(1):478. doi: 10.1186/1471-2407-14-478.
    • Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.
    • Bell K, Hodgson N, Levine M, Sadikovic B, Zbuk K.
    • Breast Cancer Res Treat. 2014 Jul;146(2):447-50. doi: 10.1007/s10549-014-3011-x. Epub 2014 Jun 12.
    • Case report
    • 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.

    Comment:

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

    • Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.
    • Krzystolik K, Jakubowska A, Gronwald J, Krawczyński MR, Drobek-Słowik M, Sagan L, Cyryłowski L, Lubiński W, Lubiński J, Cybulski C.
    • Hered Cancer Clin Pract. 2014 Jun 18;12(1):16. doi: 10.1186/1897-4287-12-16. eCollection 2014.
    • Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
    • Schröder-Heurich B, Bogdanova N, Wieland B, Xie X, Noskowicz M, Park-Simon TW, Hillemanns P, Christiansen H, Dörk T.
    • BMC Cancer. 2014 Jun 13;14:434. doi: 10.1186/1471-2407-14-434.
    • Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
    • Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.
    • Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • 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.
    • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
    • Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.
    • Noskowicz M, Bogdanova N, Bermisheva M, Takhirova Z, Antonenkova N, Khusnutdinova E, Bremer M, Christiansen H, Park-Simon TW, Hillemanns P, Dörk T.
    • Fam Cancer. 2014 Jun;13(2):137-42. doi: 10.1007/s10689-013-9684-1.
    • Expanding the genetic basis of copy number variation in familial breast cancer.
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    • Hered Cancer Clin Pract. 2014 May 24;12(1):15. doi: 10.1186/1897-4287-12-15. eCollection 2014.
    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.
    • Sokolenko AP, Bulanova DR, Iyevleva AG, Aleksakhina SN, Preobrazhenskaya EV, Ivantsov AO, Kuligina ESh, Mitiushkina NV, Suspitsin EN, Yanus GA, Zaitseva OA, Yatsuk OS, Togo AV, Kota P, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Int J Cancer. 2014 May 15;134(10):2352-8. doi: 10.1002/ijc.28569. Epub 2014 Jan 27.
    • About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
    • Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O.
    • Int J Cancer. 2014 May 1;134(9):2088-97.
    • MUTATION ANALYSIS FOR BRIP1 IN KOREAN PATIENTS WITH BRCA1/2 MUTATIONS-NEGATIVE HIGH-RISK BREAST CANCER.
    • 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
    • Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
    • Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.
    • Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

    Comment:

    Genetics: SMARCA4 mutated in SCCOHT.

    • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.
    • Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: SMARCA4

    News

    SMARCA4 mutated in SCCOHT

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    • Breast cancer genes: Beyond BRCA1 and BRCA2.
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    • Genetic Literacy Project, 2014 Apr 8.
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    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.
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    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

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    • Breast cancer. The 'other' breast cancer genes.
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    • News
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    • [Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].
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    • Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.
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    • Genet Mol Biol. 2014 Mar;37(1 Suppl):234-40.
    • Germline mutations of inhibins in early-onset ovarian epithelial tumors.
    • Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T.
    • Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27.
    • Neurofibromatosis type I with breast cancer: not only for women!
    • Lakshmaiah KC, Kumar AN, Purohit S, Viveka BK, Rajan KR, Zameer MA, Namitha P, Saini ML, Azim HA Jr, Saini KS.
    • Hered Cancer Clin Pract. 2014 Feb 24;12(1):5. doi: 10.1186/1897-4287-12-5.
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
    • Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.
    • Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.
    • A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
    • Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D.
    • BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70.
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
    • Michieletto S, Saibene T, Evangelista L, Barbazza F, Grigoletto R, Rossi G, Ghiotto C, Bozza F.
    • Breast. 2014 Feb;23(1):19-25. doi: 10.1016/j.breast.2013.10.001. Epub 2013 Nov 1.
    • Etiology of familial breast cancer with undetected BRCA1 and BRCA2 mutations: clinical implications.
    • Yiannakopoulou E.
    • Cell Oncol (Dordr). 2014 Feb;37(1):1-8. doi: 10.1007/s13402-013-0158-0. Epub 2013 Dec 4.
    • Mismatch repair deficiency in ovarian cancer - Molecular characteristics and clinical implications.
    • Xiao X, Melton DW, Gourley C.
    • Gynecol Oncol. 2014 Feb;132(2):506-512. doi: 10.1016/j.ygyno.2013.12.003. Epub 2013 Dec 10.
    • Review
    • Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
    • Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J.
    • Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4.
    • RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families.
    • Larsen MJ, Thomassen M, Tan Q, Lænkholm AV, Bak M, Sørensen KP, Andersen MK, Kruse TA, Gerdes AM.
    • BMC Med Genomics. 2014 Jan 31;7(1):9. doi: 10.1186/1755-8794-7-9.
    • Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer.
    • Kohlhase S, Bogdanova NV, Schürmann P, Bermisheva M, Khusnutdinova E, Antonenkova N, Park-Simon TW, Hillemanns P, Meyer A, Christiansen H, Schindler D, Dörk T.
    • PLoS One. 2014 Jan 21;9(1):e85334. doi: 10.1371/journal.pone.0085334. eCollection 2014.
    • Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.
    • Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ.
    • Int J Cancer. 2014 Jan 15;134(2):301-5. doi: 10.1002/ijc.28361. Epub 2013 Sep 23.
    • A Two-Stage Association Study Suggests BRAP as a Susceptibility Gene for Schizophrenia.
    • Zhang F, Liu C, Xu Y, Qi G, Yuan G, Cheng Z, Wang J, Wang G, Wang Z, Zhu W, Zhou Z, Zhao X, Tian L, Jin C, Yuan J, Zhang G, Chen Y, Wang L, Lu T, Yan H, Ruan Y, Yue W, Zhang D.
    • PLoS One. 2014 Jan 15;9(1):e86037. doi: 10.1371/journal.pone.0086037. eCollection 2014.
    • [Frequency of CHEK2 gene mutations in patients with breast cancer from the Republic of Bashkortostan].
    • [No authors listed]
    • Mol Biol (Mosk). 2014 Jan-Feb;48(1):55-61.
    • [Article in Russian]
    • CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.
    • Huijts PE, Hollestelle A, Balliu B, Houwing-Duistermaat JJ, Meijers CM, Blom JC, Ozturk B, Krol-Warmerdam EM, Wijnen J, Berns EM, Martens JW, Seynaeve C, Kiemeney LA, van der Heijden HF, Tollenaar RA, Devilee P, van Asperen CJ.
    • Eur J Hum Genet. 2014 Jan;22(1):46-51. doi: 10.1038/ejhg.2013.85. Epub 2013 May 8.
    • PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.
    • Akbari MR, Lepage P, Rosen B, McLaughlin J, Risch H, Minden M, Narod SA.
    • J Natl Cancer Inst. 2014 Jan;106(1):djt323. doi: 10.1093/jnci/djt323. Epub 2013 Nov 21.

    Letter, Comment:

    RE: PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

    Letter, Reply:

    Response.

    Editorial/Comment:

    Molecular wanderings through the DNA damage response and risk for ovarian cancer.

    • Molecular wanderings through the DNA damage response and risk for ovarian cancer.
    • Bookman MA.
    • J Natl Cancer Inst. 2014 Jan;106(1):djt350. doi: 10.1093/jnci/djt350. Epub 2013 Nov 21.

    PPM1D mutations in circulating white blood cells and the risk for ovarian cancer.

    • Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.
    • Ow GS, Ivshina AV, Fuentes G, Kuznetsov VA.
    • Cell Cycle. 2014;13(14):2262-80. doi: 10.4161/cc.29271. Epub 2014 May 30.
    • RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
    • Schnurbein G, Hauke J, Wappenschmidt B, Weber-Lassalle N, Engert S, Hellebrand H, Garbes L, Becker A, Neidhardt G, Rhiem K, Meindl A, Schmutzler RK, Hahnen E.
    • Breast Cancer Res. 2013 Dec 20;15(6):R120. doi: 10.1186/bcr3589.
    • Genetic Ancestry and Risk of Mortality among U.S. Latinas with Breast Cancer.
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    • Cancer Res. 2013 Dec 15;73(24):7243-53. doi: 10.1158/0008-5472.CAN-13-2014. Epub 2013 Oct 31.
    • A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
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    • Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.
    • Increase in breast cancer gene screening: the Angelina Jolie effect.
    • Deborah Kotz.
    • Boston Globe. 2013 Dec 3.
    • The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer.
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    • The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
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    • Letter
    • Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles.
    • Osorio A, Bogliolo M, Fernández V, Barroso A, de la Hoya M, Caldés T, Lasa A, Ramón Y Cajal T, Santamariña M, Vega A, Quiles F, Lázaro C, Díez O, Fernández D, González-Sarmiento R, Durán M, Piqueras JF, Marín M, Pujol R, Surrallés J, Benítez J.
    • Hum Mutat. 2013 Dec;34(12):1615-8. doi: 10.1002/humu.22438. Epub 2013 Oct 7.
    • Factors associated with breast cancer in Puerto Rican women.
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    • SEPP1 influences breast cancer risk among women with greater native american ancestry: the breast cancer health disparities study.
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    • Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
    • Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.
    • BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48.
    • Ethnic differences in breast cancer risk and survival: a study on immigrants in Sweden.
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    • Identifying lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype.
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    • Review
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    • The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?
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    • Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
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    • Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31.
    • Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?
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    • Mutagenesis. 2013 Nov;28(6):625-9. doi: 10.1093/mutage/get050. Epub 2013 Oct 8.
    • Researchers Spar Over Tests for Breast Cancer Risks.
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    • ScienceInsider. 2013 Oct 24.
    • 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.
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    • Beyond BRCA1/2: polygenic, 'polyfunctional' molecular circuitry model to predict breast cancer risk.
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    • Clinical characteristics of breast cancer in patients with an NBS1 mutation.
    • Huzarski T, Cybulski C, Jakubowska A, Byrski T, Gronwald J, Domagała P, Szwiec M, Godlewski D, Kilar E, Marczyk E, Siołek M, Gorski B, Wiśniowski R, Janiszewska H, Surdyka D, Sibilski R, Sun P, Narod SA, Lubiński J; Polish Breast Cancer Consortium.
    • Breast Cancer Res Treat. 2013 Oct;141(3):471-6. doi: 10.1007/s10549-013-2692-x. Epub 2013 Sep 27.
    • Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
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    • Breast Cancer Res Treat. 2013 Oct;141(3):515-22. doi: 10.1007/s10549-013-2705-9. Epub 2013 Oct 9.
    • Germline mutations in dna repair genes in women with ovarian, peritoneal, or fallopian tube cancer treated on GOG protocol 218.
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    • Conference abstract
    • Retrospective analysis of clinicopathological characteristics and family history data of early-onset breast cancer: a single-institutional study of Hungarian patients.
    • Madaras L, Baranyák Z, Kulka J, Szász AM, Kovács A, Lan PH, Székely B, Dank M, Nagy T, Kiss O, Harsányi L, Barbai T, Kenessey I, Tőkés AM.
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    • Hereditary breast cancer: ever more pieces to the polygenic puzzle.
    • Bogdanova N, Helbig S, Dörk T.
    • Hered Cancer Clin Pract. 2013 Sep 11;11(1):12. doi: 10.1186/1897-4287-11-12.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
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    • Breast cancer in Arab populations: molecular characteristics and disease management implications.
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    • Review

    Letter, Comment:

    Perspectives on breast cancer in Arab populations.

    • Hereditary breast and ovarian cancer susceptibility genes (Review).
    • Kobayashi H, Ohno S, Sasaki Y, Matsuura M.
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    • Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.
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    • PLoS One. 2013 Aug 20;8(8):e73638. doi: 10.1371/journal.pone.0073638. eCollection 2013.
    • Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
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    • BMC Med Genet. 2013 Aug 13;14:82. doi: 10.1186/1471-2350-14-82.
    • copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
    • Kuusisto KM, Akinrinade O, Vihinen M, Kankuri-Tammilehto M, Laasanen SL, Schleutker J.
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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: CHEK2 c.470T>C

    Subject: CHEK2 p.I157T mutation?

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    Press: New Genetic Findings Should Revolutionize Cancer Screening. (Medscape Oncology)

    News: Our commentary in new Nature Genetics special issue. (PHG Foundation)

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    Press: Risk Of Ovarian Cancer Increased By 5 Genetic Variations. (Medical News Today)

    • Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
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    • Nat Commun. 2013 Mar 27;4:1627. doi: 10.1038/ncomms2613.

    Press: Risk Of Ovarian Cancer Increased By 5 Genetic Variations. (Medical News Today)

    • Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.
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    Commentary:

    A Commentary on Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.

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    • PLoS One. 2013;8(1):e55734. doi: 10.1371/journal.pone.0055734. Epub 2013 Jan 31.
    • Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
    • Thompson ER, Rowley SM, Sawyer S, kConfab, Eccles DM, Trainer AH, Mitchell G, James PA, Campbell IG.
    • PLoS One. 2013;8(1):e54772. doi: 10.1371/journal.pone.0054772. Epub 2013 Jan 25.
    • Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence.
    • Sapkota Y, Ghosh S, Lai R, Coe BP, Cass CE, Yasui Y, Mackey JR, Damaraju S.
    • PLoS One. 2013;8(1):e53850. doi: 10.1371/journal.pone.0053850. Epub 2013 Jan 16.

    Press: Simple Blood Test Reveals DNA Marker That Predicts Breast Cancer Recurrence. (Medical News Today)

    • Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
    • Tischkowitz M, Sabbaghian N, Hamel N, Pouchet C, Foulkes WD, Mes-Masson AM, Provencher DM, Tonin PN.
    • BMC Med Genet. 2013 Jan 9;14:5. doi: 10.1186/1471-2350-14-5.
    • Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
    • Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T.
    • Breast Cancer Res Treat. 2013 Jan;137(2):533-9. doi: 10.1007/s10549-012-2357-1. Epub 2012 Dec 6.
    • Meta-Analysis

    Letter, Comment:

    The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population.

    Letter, Comment:

    The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

    • Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.
    • Peng M, Bakker JL, Dicioccio RA, Gille JJ, Zhao H, Odunsi K, Sucheston L, Jaafar L, Mivechi NF, Waisfisz Q, Ko L.
    • Genes Cancer. 2013 Jan;4(1-2):15-25. doi: 10.1177/1947601913486344.
    • 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.
    • Common variants in the PALB2 gene confer susceptibility to breast cancer: a meta-analysis.
    • Zhang YX, Wang XM, Kang S, Li X, Geng J.
    • Asian Pac J Cancer Prev. 2013;14(12):7149-54.
    • Hereditary genes and SNPs associated with breast cancer.
    • Mahdi KM, Nassiri MR, Nasiri K.
    • Asian Pac J Cancer Prev. 2013;14(6):3403-9.
    • Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.
    • Haytural H, Yalcinkaya N, Akan G, Arikan S, Ozkok E, Cakmakoglu B, Yaylim I, Aydin M, Atalar F.
    • Asian Pac J Cancer Prev. 2013;14(5):3229-35.
    • Low level of consanguinity in moroccan families at high risk of breast cancer.
    • Elalaoui SC, Jaouad IC, Laarabi FZ, Elgueddari Bel K.
    • Asian Pac J Cancer Prev. 2013;14(2):723-6.
    • A multicenter matched case control study of breast cancer risk factors among women in Karachi, Pakistan.
    • Shamsi U, Khan S, Usman S, Soomro S, Azam I.
    • Asian Pac J Cancer Prev. 2013;14(1):183-8.
    • Hereditary breast cancer: the era of new susceptibility genes.
    • Apostolou P, Fostira F.
    • Biomed Res Int. 2013;2013:747318. doi: 10.1155/2013/747318. Epub 2013 Mar 21.
    • Hereditary breast cancer in the Han Chinese population.
    • Cao W, Wang X, Li JC.
    • J Epidemiol. 2013;23(2):75-84. Epub 2013 Jan 12.
    • Re-evaluating the FGFR4 (G388R) germline mutation in different cancers in Pakistani population.
    • Mansoor Q, Fayyaz S, Farooqi AA, Bhatti S, Ismail M.
    • J Exp Ther Oncol. 2013;10(3):215-7.
    • RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.
    • Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F.
    • PLoS One. 2012;7(12):e52374. doi: 10.1371/journal.pone.0052374. Epub 2012 Dec 27.
    • CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer.
    • Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van't Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ, Mannermaa A, Grenaker Alnæs G, John EM, Dörk T, Flyger H, Dunning AM, Wang Q, Muranen TA, van Hien R, Figueroa J, Southey MC, Czene K, Knight JA, Tollenaar RA, Beckmann MW, Ziogas A, Christiaens MR, Collée JM, Reed MW, Severi G, Marme F, Margolin S, Olson JE, Kosma VM, Kristensen VN, Miron A, Bogdanova N, Shah M, Blomqvist C, Broeks A, Sherman M, Phillips KA, Li J, Liu J, Glendon G, Seynaeve C, Ekici AB, Leunen K, Kriege M, Cross SS, Baglietto L, Sohn C, Wang X, Kataja V, Børresen-Dale AL, Meyer A, Easton DF, Schmidt MK, Bojesen SE.
    • J Clin Oncol. 2012 Dec 10;30(35):4308-16. doi: 10.1200/JCO.2012.42.7336. Epub 2012 Oct 29.
    • Molecular pathways: understanding the role of rad52 in homologous recombination for therapeutic advancement.
    • Lok BH, Powell SN.
    • Clin Cancer Res. 2012 Dec 1;18(23):6400-6. doi: 10.1158/1078-0432.CCR-11-3150. Epub 2012 Oct 15.
    • CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.
    • Abud J, Prolla JC; Study Group on Hereditary Breast and Colorectal Cancer.
    • Arq Gastroenterol. 2012 Dec;49(4):273-8.
    • Germline mutations in RAD51C in Jewish high cancer risk families.
    • Kushnir A, Laitman Y, Shimon SP, Berger R, Friedman E.
    • Breast Cancer Res Treat. 2012 Dec;136(3):869-74. doi: 10.1007/s10549-012-2317-9. Epub 2012 Nov 2.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • 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.
    • Loss of function germline mutations in RAD51D in women with ovarian carcinoma.
    • Wickramanyake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM.
    • Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14.
    • Assessing risk of breast cancer in an ethnically South-East Asia population (results of a multiple ethnic groups study).
    • Gao F, Machin D, Chow KY, Sim YF, Duffy SW, Matchar DB, Goh CH, Chia KS.
    • BMC Cancer. 2012 Nov 19;12:529. doi: 10.1186/1471-2407-12-529.
    • Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
    • Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA.
    • Br J Cancer. 2012 Nov 6;107(10):1783-90. doi: 10.1038/bjc.2012.452. Epub 2012 Oct 9.
    • DNA mismatch repair deficiency in breast carcinoma: a pilot study of triple-negative and non-triple-negative tumors.
    • Wen YH, Brogi E, Zeng Z, Akram M, Catalano J, Paty PB, Norton L, Shia J.
    • Am J Surg Pathol. 2012 Nov;36(11):1700-8. doi: 10.1097/PAS.0b013e3182627787.
    • Prevalence of loss of expression of DNA mismatch repair proteins in primary epithelial ovarian tumors.
    • Lu FI, Gilks CB, Mulligan AM, Ryan P, Allo G, Sy K, Shaw PA, Pollett A, Clarke BA.
    • Int J Gynecol Pathol. 2012 Nov;31(6):524-31. doi: 10.1097/PGP.0b013e31824fe2aa.
    • Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome.
    • Gao C, Devarajan K, Zhou Y, Slater CM, Daly MB, Chen X.
    • BMC Genomics. 2012 Oct 30;13:570. doi: 10.1186/1471-2164-13-570.
    • 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.
    • Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
    • Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, Johnson N, Lord CJ, Mitsopoulos C, Zvelebil M, McDade SS, Buck G, Blancher C; KConFab Consortium, Trainer AH, James PA, Bojesen SE, Bokmand S, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Giannini G, Hollestelle A, Ouweland AM, Novaković S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Easton DF, Pharoah PD, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Houlston RS, Garcia-Closas M, Ashworth A, Swerdlow AJ.
    • Nat Genet. 2012 Sep 23;44(11):1182-4. doi: 10.1038/ng.2417. Epub 2012 Sep 23.

    News: Genetic link to male breast cancer. (Lancet Oncology)

    • Genetic determinants of breast cancer risk: a review of current literature and issues pertaining to clinical application.
    • Njiaju UO, Olopade OI.
    • Breast J. 2012 Sep;18(5):436-42. doi: 10.1111/j.1524-4741.2012.01274.x.
    • Review
    • 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.
    • Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles.
    • Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.
    • PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

    Comment:

    Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power.

    • Breast cancer in the Arctic--changes over the past decades.
    • Fredslund SO, Bonefeld-Jørgensen EC.
    • Int J Circumpolar Health. 2012 Aug 16;71:19155. doi: 10.3402/ijch.v71i0.19155.

    Review:

    Breast cancer in the Arctic--changes over the past decades.

    • Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.
    • Yanowsky K, Barroso A, Osorio A, Urioste M, Benitez J, Martinez-Delgado B.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1337-43. doi: 10.1007/s10549-012-2141-2. Epub 2012 Jul 3.
    • Familial breast cancer.
    • Lalloo F, Evans DG.
    • Clin Genet. 2012 Aug;82(2):105-14. doi: 10.1111/j.1399-0004.2012.01859.x. Epub 2012 Apr 13.
    • 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

    • Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.
    • Osorio A, Endt D, Fernández F, Eirich K, de la Hoya M, Schmutzler R, Caldés T, Meindl A, Schindler D, Benitez J.
    • Hum Mol Genet. 2012 Jul 1;21(13):2889-98. doi: 10.1093/hmg/dds115. Epub 2012 Mar 26.
    • Analysis of KLLN as a high-penetrance breast cancer predisposition gene.
    • Thompson ER, Gorringe KL, Choong DY, Eccles DM; kConFab, Mitchell G, Campbell IG.
    • Breast Cancer Res Treat. 2012 Jul;134(2):543-7. doi: 10.1007/s10549-012-2088-3. Epub 2012 May 13.
    • High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
    • Smith MJ, Gifford FL, Lalloo F, Newman WG, Evans DG.
    • Breast Cancer Res Treat. 2012 Jul;134(2):895-7. doi: 10.1007/s10549-012-2130-5. Epub 2012 Jul 3.
    • Letter
    • Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region.
    • Prokofyeva D, Bogdanova N, Bermisheva M, Zinnatullina G, Hillemanns P, Khusnutdinova E, Dörk T.
    • Clin Genet. 2012 Jul;82(1):100-1. doi: 10.1111/j.1399-0004.2011.01824.x. Epub 2012 Feb 6.
    • Letter
    • A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.
    • Pelttari LM, Kiiski J, Nurminen R, Kallioniemi A, Schleutker J, Gylfe A, Aaltonen LA, Leminen A, Heikkilä P, Blomqvist C, Bützow R, Aittomäki K, Nevanlinna H.
    • J Med Genet. 2012 Jul;49(7):429-32. doi: 10.1136/jmedgenet-2012-100852. Epub 2012 May 31.
    • Genetic testing by cancer site: breast.
    • Shannon KM, Chittenden A.
    • Cancer J. 2012 Jul-Aug;18(4):310-9. doi: 10.1097/PPO.0b013e318260946f.
    • Review
    • Genetic testing by cancer site: ovary.
    • Weissman SM, Weiss SM, Newlin AC.
    • Cancer J. 2012 Jul-Aug;18(4):320-7. doi: 10.1097/PPO.0b013e31826246c2.
    • Review
    • The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.
    • Johnson JK, Waddell N; kConFab Investigators, Chenevix-Trench G.
    • BMC Cancer. 2012 Jun 15;12:246. doi: 10.1186/1471-2407-12-246.
    • Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
    • Roeb W, Higgins J, King MC.
    • Hum Mol Genet. 2012 Jun 15;21(12):2738-44. doi: 10.1093/hmg/dds101. Epub 2012 Mar 13.
    • High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.
    • Sokolenko AP, Iyevleva AG, Preobrazhenskaya EV, Mitiushkina NV, Abysheva SN, Suspitsin EN, Kuligina ESh, Gorodnova TV, Pfeifer W, Togo AV, Turkevich EA, Ivantsov AO, Voskresenskiy DV, Dolmatov GD, Bit-Sava EM, Matsko DE, Semiglazov VF, Fichtner I, Larionov AA, Kuznetsov SG, Antoniou AC, Imyanitov EN.
    • Int J Cancer. 2012 Jun 15;130(12):2867-73. doi: 10.1002/ijc.26342. Epub 2011 Oct 20.
    • Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition.
    • Rouleau E, Jesson B, Briaux A, Nogues C, Chabaud V, Demange L, Sokolowska J, Coulet F, Barouk-Simonet E, Bignon YJ, Bonnet F, Bourdon V, Bronner M, Caputo S, Castera L, Delnatte C, Delvincourt C, Fournier J, Hardouin A, Muller D, Peyrat JP, Toulas C, Uhrhammer N, Vidal V, Stoppa-Lyonnet D, Bieche I, Lidereau R.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1179-90. doi: 10.1007/s10549-012-2009-5. Epub 2012 Apr 5.
    • Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.
    • Mateju M, Kleiblova P, Kleibl Z, Janatova M, Soukupova J, Ticha I, Novotny J, Pohlreich P.
    • Breast Cancer Res Treat. 2012 Jun;133(2):809-11. doi: 10.1007/s10549-012-2049-x. Epub 2012 Apr 11.
    • Letter

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: article request

    • Prevalence of TP53 germ line mutations in young Pakistani breast cancer patients.
    • Rashid MU, Gull S, Asghar K, Muhammad N, Amin A, Hamann U.
    • Fam Cancer. 2012 Jun;11(2):307-11. doi: 10.1007/s10689-012-9509-7.
    • [Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region].
    • Chasovnikova OB, Mitrofanov DV, Anisimenko MS, Voevoda MI, Kovalenko SP, Liakhovich VV.
    • Genetika. 2012 Jun;48(6):768-72.
    • [Article in Russian]
    • Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network.
    • Pylkäs K, Vuorela M, Otsukka M, Kallioniemi A, Jukkola-Vuorinen A, Winqvist R.
    • PLoS Genet. [2012 Jun;]8(6):e1002734. doi: 10.1371/journal.pgen.1002734. Epub 2012 Jun 21.
    • Environment and genetics: making sense of the noise.
    • Petherick A.
    • Nature. 2012 May 30;485(7400):S64-5. doi: 10.1038/485S64a.
    • News

    Letter:

    Tumours: Less lactation may explain cancer rise.

    • RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.
    • He M, Di GH, Cao AY, Hu Z, Jin W, Shen ZZ, Shao ZM.
    • Breast Cancer Res Treat. 2012 May;133(1):111-6. doi: 10.1007/s10549-011-1700-2. Epub 2011 Aug 3.
    • 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.
    • Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
    • Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ.
    • Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14.
    • Germline RAD51C mutations confer susceptibility to ovarian cancer.
    • Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K; Breast Cancer Susceptibility Collaboration (BCSC) (UK), Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N.
    • Nat Genet. 2012 Apr 26;44(5):475-6. doi: 10.1038/ng.2224.
    • Letter

    Letter:

    Germline RAD51C mutations confer susceptibility to ovarian cancer.

    • Breast cancer genome-wide association studies: there is strength in numbers.
    • Fanale D, Amodeo V, Corsini LR, Rizzo S, Bazan V, Russo A.
    • Oncogene. 2012 Apr 26;31(17):2121-8. doi: 10.1038/onc.2011.408. Epub 2011 Sep 26.
    • Review
    • Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.
    • Ding D, Zhang Y, He X, Meng W, Ma W, Zheng W.
    • Breast Cancer Res. 2012 Apr 20;14(2):401.
    • Letter
    • 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!)

    • Translational advances regarding hereditary breast cancer syndromes.
    • Gage M, Wattendorf D, Henry LR.
    • J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.
    • Review
    • Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
    • Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W.
    • Breast Cancer Res Treat. 2012 Apr;132(3):937-45. Epub 2011 Jun 24.
    • Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
    • Nagel JH, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V, Trapman-Jansen AM, van den Ouweland A, Brüggenwirth H, van Ijcken WF, Klijn JG, van der Spek PJ, Foekens JA, Martens JW, Schutte M, Meijers-Heijboer H.
    • Breast Cancer Res Treat. 2012 Apr;132(2):439-48. doi: 10.1007/s10549-011-1588-x. Epub 2011 May 26.
    • [Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].
    • Arai M, Taki K, Iwase H, Takizawa K, Nishimura S, Iwase T.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):525-31.
    • [Article in Japanese]
    • 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.
    • Role of common genetic variants in ovarian cancer susceptibility and outcome: progress to date from the Ovarian Cancer Association Consortium (OCAC).
    • Bolton KL, Ganda C, Berchuck A, Pharaoh PD, Gayther SA.
    • J Intern Med. 2012 Apr;271(4):366-78. doi: 10.1111/j.1365-2796.2011.02509.x.
    • The R337H mutation in TP53 and breast cancer in Brazil.
    • Gomes MC, Kotsopoulos J, de Almeida GL, Costa MM, Vieira R, Filho Fde A, Pitombo MB, F Leal PR, Royer R, Zhang P, Narod SA.
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    • Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
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    Press: Researchers Discover New Member Of The Breast-Cancer Gene Network. (Medical News Today)

    Press: New member of the breast-cancer gene network found by Penn-led team. (EurekAlert!)

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    Press: Gene Links Rare And Unrelated Cancers. (Medical News Today)

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    Breast cancer in the Arctic--changes over the past decades.

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