Breast / Ovarian Cancer Phenotypes from Other Than Standard BRCA1/2 Genes / Mutations
~ Genetics of Breast & Ovarian Cancer

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    • Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.
    • Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.
    • BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.
    • 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.
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    • A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
    • Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Prostate Cancer Consortium; Other members of the Polish Hereditary Prostate Cancer Consortium.
    • Gene. 2013 Dec 15;532(2):173-6. doi: 10.1016/j.gene.2013.09.079. Epub 2013 Oct 2.
    • The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer.
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    • Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.
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    • Case report
    • 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.
    • Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L, Southey MC.
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    • Letter
    • Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
    • Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA.
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    • 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.
    • Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B.
    • Mol Biol Rep. 2013 Dec;40(12):6619-23. doi: 10.1007/s11033-013-2775-0. Epub 2013 Sep 25.
    • Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?
    • Gupta S, Jaworska-Bieniek K, Lubinski J, Jakubowska A.
    • Mutagenesis. 2013 Nov;28(6):625-9. doi: 10.1093/mutage/get050. Epub 2013 Oct 8.
    • Germline mutation in the RAD51B gene confers predisposition to breast cancer.
    • Golmard L1, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D.
    • BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.
    • 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?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • The complex genetic landscape of familial breast cancer.
    • Melchor L, Benítez J.
    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • Review
    • Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases.
    • Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo A, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A.
    • PLoS One. 2013 Jul 23;8(7):e67538. doi: 10.1371/journal.pone.0067538. Print 2013.
    • PALB2 and breast cancer: ready for clinical translation!
    • Southey MC, Teo ZL, Winship I.
    • Appl Clin Genet. 2013 Jul 19;6:43-52. doi: 10.2147/TACG.S34116. Print 2013.
    • Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.
    • Moscovich M, LeDoux MS, Xiao J, Rampon GL, Vemula SR, Rodriguez RL, Foote KD, Okun MS.
    • BMC Med Genet. 2013 Jul 13;14:70. doi: 10.1186/1471-2350-14-70.
    • Tumour morphology predicts PALB2 germline mutation status.
    • Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L; kConFab, Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC.
    • Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.
    • Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
    • Ingham S, Warwick J, Byers H, Lalloo F, Newman W, Evans D.
    • Clin Genet. 2013 Jul;84(1):37-42. doi: 10.1111/cge.12035. Epub 2012 Nov 20.
    • Association of BRCA1 promoter methylation with rs11655505 (c.2265C>T) variants and decreased gene expression in sporadic breast cancer.
    • Hasan TN, Leena Grace B, Shafi G, Syed R.
    • Clin Transl Oncol. 2013 Jul;15(7):555-62. doi: 10.1007/s12094-012-0968-y. Epub 2012 Dec 21.
    • BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.
    • Ricks-Santi LJ, Nie J, Marian C, Ochs-Balcom HM, Trevisan M, Edge SB, Freudenheim JL, Shields PG.
    • Genet Epidemiol. 2013 Jul;37(5):504-11. doi: 10.1002/gepi.21730. Epub 2013 May 14.
    • Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.
    • Nizialek EA, Peterson C, Mester JL, Downes-Kelly E, Eng C.
    • Hum Mol Genet. 2013 Jun 15;22(12):2451-61. doi: 10.1093/hmg/ddt097. Epub 2013 Feb 27.
    • Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
    • Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Díez O.
    • Breast Cancer Res Treat. 2013 Jun;139(2):597-602. doi: 10.1007/s10549-013-2538-6. Epub 2013 Apr 27.
    • Case report
    • The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis.
    • Han FF, Guo CL, Liu LH.
    • DNA Cell Biol. 2013 Jun;32(6):329-35. doi: 10.1089/dna.2013.1970. Epub 2013 May 13.
    • Meta-Analysis

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: CHEK2 c.470T>C

    Subject: CHEK2 p.I157T mutation?

    • Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
    • Bowman-Colin C, Xia B, Bunting S, Klijn C, Drost R, Bouwman P, Fineman L, Chen X, Culhane AC, Cai H, Rodig SJ, Bronson RT, Jonkers J, Nussenzweig A, Kanellopoulou C, Livingston DM.
    • Proc Natl Acad Sci U S A. 2013 May 21;110(21):8632-7. doi: 10.1073/pnas.1305362110. Epub 2013 May 8.
    • Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
    • Mahon SM.
    • Oncol Nurs Forum. 2013 May 1;40(3):220-2. doi: 10.1188/13.ONF.220-222.

    Free Medscape-style version: Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care. (Medscape)

    • Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
    • Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE.
    • Breast Cancer Res Treat. 2013 May;139(1):193-8. doi: 10.1007/s10549-012-2375-z. Epub 2013 Apr 12.
    • Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.
    • Adank MA, Verhoef S, Oldenburg RA, Schmidt MK, Hooning MJ, Martens JW, Broeks A, Rookus M, Waisfisz Q, Witte BI, Jonker MA, Meijers-Heijboer H.
    • Eur J Cancer. 2013 May;49(8):1993-9. doi: 10.1016/j.ejca.2013.01.009. Epub 2013 Feb 14.
    • Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
    • Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M.
    • Genes Chromosomes Cancer. 2013 May;52(5):480-94. doi: 10.1002/gcc.22045. Epub 2013 Jan 23.
    • Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers.
    • Gilam A, Edry L, Mamluk-Morag E, Bar-Ilan D, Avivi C, Golan D, Laitman Y, Barshack I, Friedman E, Shomron N.
    • Breast Cancer Res Treat. 2013 Apr;138(3):753-60. doi: 10.1007/s10549-013-2502-5. Epub 2013 Apr 3.
    • RAD51 genotype and triple-negative breast cancer (TNBC) risk in Polish women.
    • Smolarz B, Zadrożny M, Duda-Szymańska J, Makowska M, Samulak D, Michalska MM, Mojs E, Bryś M, Forma E, Romanowicz-Makowska H.
    • Pol J Pathol. 2013 Apr;64(1):39-43.
    • HOXB13 G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk.
    • Laitinen VH, Wahlfors T, Saaristo L, Rantapero T, Pelttari LM, Kilpivaara O, Laasanen SL, Kallioniemi A, Nevanlinna H, Aaltonen L, Vessella RL, Auvinen A, Visakorpi T, Tammela TL, Schleutker J.
    • Cancer Epidemiol Biomarkers Prev. 2013 Mar;22(3):452-60. doi: 10.1158/1055-9965.EPI-12-1000-T. Epub 2013 Jan 4.
    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
    • Hagag E, Shwaireb M, Coffa J, El Wakil A.
    • East Mediterr Health J. 2013 Mar;19(3):255-62.
    • Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.
    • Kuligina ESh, Sokolenko AP, Mitiushkina NV, Abysheva SN, Preobrazhenskaya EV, Gorodnova TV, Yanus GA, Togo AV, Cherdyntseva NV, Bekhtereva SA, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Fam Cancer. 2013 Mar;12(1):129-32. doi: 10.1007/s10689-012-9575-x.
    • Letter
    • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Investigators K, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.
    • PLoS Genet. 2013 Mar;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.
    • Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors.
    • Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Häberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Dos Santos Silva I, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, Nordestgaard BG, Bojesen SE, Lanng C, Anton-Culver H, Ziogas A, Bernstein L, Clarke CA, Brenner H, Müller H, Arndt V, Stegmaier C, Brauch H, Brüning T, Harth V, The Genica Network, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Kconfab, Group AM, Lambrechts D, Smeets D, Neven P, Paridaens R, Flesch-Janys D, Obi N, Wang-Gohrke S, Couch FJ, Olson JE, Vachon CM, Giles GG, Severi G, Baglietto L, Offit K, John EM, Miron A, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Chanock SJ, Lissowska J, Liu J, Cox A, Cramp H, Connley D, Balasubramanian S, Dunning AM, Shah M, Trentham-Dietz A, Newcomb P, Titus L, Egan K, Cahoon EK, Rajaraman P, Sigurdson AJ, Doody MM, Guénel P, Pharoah PD, Schmidt MK, Hall P, Easton DF, Garcia-Closas M, Milne RL, Chang-Claude J.
    • PLoS Genet. 2013 Mar;9(3):e1003284. doi: 10.1371/journal.pgen.1003284. Epub 2013 Mar 27.
    • Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.
    • Hsu NC, Huang YF, Yokoyama KK, Chu PY, Chen FM, Hou MF.
    • PLoS One. 2013;8(2):e56256. doi: 10.1371/journal.pone.0056256. Epub 2013 Feb 6.
    • Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke.
    • Liao YC, Lin HF, Guo YC, Chen CH, Huang ZZ, Juo SH, Lin RT.
    • BMC Med Genet. 2013 Jan 28;14:17. doi: 10.1186/1471-2350-14-17.
    • 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.
    • Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome.
    • Sanders MA, Dominici L, Denison C, Golshan M, Wiecorek T, Lester SC.
    • Arch Pathol Lab Med. 2013 Jan;137(1):72-6. doi: 10.5858/arpa.2011-0611-OA.
    • 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.

    • Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis.
    • Pabalan N, Jarjanazi H, Ozcelik H.
    • Breast Cancer Res Treat. 2013 Jan;137(2):553-8. doi: 10.1007/s10549-012-2364-2. Epub 2012 Dec 6.
    • Meta-Analysis

    Editorial/Comment:

    Note of clarification of data in the paper entitled association between BRIP1 (BACH1) polymorphisms and breast cancer risk.

    • RAD51 polymorphisms and breast cancer risk.
    • Hosseini M, Houshmand M, Ebrahimi A.
    • Mol Biol Rep. 2013 Jan;40(1):665-8. doi: 10.1007/s11033-012-2105-y. Epub 2012 Oct 13.
    • A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    • Chung S, Low SK, Zembutsu H, Takahashi A, Kubo M, Sasa M, Nakamura Y.
    • Breast Cancer Res. 2013;15(5):R81.
    • Association of CYP2D6 metabolizer status with mammographic density change in response to tamoxifen treatment.
    • Li J, Czene K, Brauch H, Schroth W, Saladores P, Li Y, Humphreys K, Hall P.
    • Breast Cancer Res. 2013;15(5):R93.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • 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.
    • 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.
    • Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
    • Kast K, Neuhann TM, Görgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schröck E, Schackert HK.
    • BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531.
    • Clinical significance of large rearrangements in BRCA1 and BRCA2.
    • Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB.
    • Cancer. 2012 Nov 1;118(21):5210-6. doi: 10.1002/cncr.27556. Epub 2012 Apr 27.
    • 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.
    • BRCA1 epigenetic inactivation predicts sensitivity to platinum-based chemotherapy in breast and ovarian cancer.
    • Stefansson OA, Villanueva A, Vidal A, Martí L, Esteller M.
    • Epigenetics. 2012 Nov;7(11):1225-9. doi: 10.4161/epi.22561. Epub 2012 Oct 15.
    • De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.
    • Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C.
    • Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17.
    • Case Report
    • Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma.
    • Xu L, Doan PC, Wei Q, Li G, Sturgis EM.
    • Oral Oncol. 2012 Sep;48(9):842-7. doi: 10.1016/j.oraloncology.2012.03.012. Epub 2012 Apr 12.
    • BRCA1 promoter methylation status does not predict response to tamoxifen in sporadic breast cancer patients.
    • Cerne JZ, Zong L, Jelinek J, Hilsenbeck SG, Wang T, Oesterreich S, McGuire SE.
    • Breast Cancer Res Treat. 2012 Aug;135(1):135-43. doi: 10.1007/s10549-012-2117-2. Epub 2012 Jun 16.
    • Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
    • Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 and PALB2 mutation

    Subject: BRCA1 and BRCA2 mutation carriers?

    • BRCA2 variants and cardiovascular disease in a multi-ethnic study.
    • Zbuk K, Xie C, Young R, Heydarpour M, Pare G, Davis AD, Miller R, Lanktree MB, Saleheen D, Danesh J, Yusuf S, Engert JC, Hegele RA, Anand SS.
    • BMC Med Genet. 2012 Jul 18;13:56. doi: 10.1186/1471-2350-13-56.
    • 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.
    • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
    • Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC.
    • BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237.
    • Prospective evaluation of the drug-metabolizing enzyme polymorphisms and toxicity profile of docetaxel in Korean patients with operable lymph node-positive breast cancer receiving adjuvant chemotherapy.
    • Kim KP, Ahn JH, Kim SB, Jung KH, Yoon DH, Lee JS, Ahn SH.
    • Cancer Chemother Pharmacol. 2012 May;69(5):1221-7. doi: 10.1007/s00280-011-1816-4. Epub 2012 Jan 20.

    Comment:

    Highlights from the latest articles in breast cancer pharmacogenomics.

    • Association between ATM polymorphisms and cancer risk: a meta-analysis.
    • Shen L, Yin ZH, Wan Y, Zhang Y, Li K, Zhou BS.
    • Mol Biol Rep. 2012 May;39(5):5719-25. doi: 10.1007/s11033-011-1381-2. Epub 2011 Dec 28.
    • Meta-Analysis
    • 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
    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
    • Maia AT, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, Kartsonaki C, Chin SF, Curtis CN, McGuffog L, Domchek SM; EMBRACE, Easton DF, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Eccles D; GEMO Study Collaborators, Sinilnikova OM, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Faivre L, Venat-Bouvet L, Delnatte C, Nevanlinna H, Couch FJ, Godwin AK, Caligo MA; SWE-BRCA, Barkardottir RB; kConFab Investigators, Chen X, Beesley J, Healey S, Caldas C, Chenevix-Trench G, Ponder BA.
    • Breast Cancer Res. 2012 Apr 18;14(2):R63.
    • 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.
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers.
    • Barnes DR, Antoniou AC.
    • J Intern Med. 2012 Apr;271(4):331-43. doi: 10.1111/j.1365-2796.2011.02502.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.
    • Hered Cancer Clin Pract. 2012 Mar 28;10(1):3. doi: 10.1186/1897-4287-10-3.
    • CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the breast international group 1-98 trial.
    • Regan MM, Leyland-Jones B, Bouzyk M, Pagani O, Tang W, Kammler R, Dell'orto P, Biasi MO, Thürlimann B, Lyng MB, Ditzel HJ, Neven P, Debled M, Maibach R, Price KN, Gelber RD, Coates AS, Goldhirsch A, Rae JM, Viale G; Breast International Group (BIG) 1-98 Collaborative Group.
    • J Natl Cancer Inst. 2012 Mar 21;104(6):441-51. doi: 10.1093/jnci/djs125. Epub 2012 Mar 6.

    See PubMed abstract for multiple related items.

    Press: CYP2D6 Genotype Not Predictive of Tamoxifen Effectiveness. (Medscape)

    Press: Studies show that CYP2D6 genotype does not predict tamoxifen benefit. (EurekAlert!)

    • CYP2D6 and UGT2B7 genotype and risk of recurrence in tamoxifen-treated breast cancer patients.
    • Rae JM, Drury S, Hayes DF, Stearns V, Thibert JN, Haynes BP, Salter J, Sestak I, Cuzick J, Dowsett M; ATAC trialists.
    • J Natl Cancer Inst. 2012 Mar 21;104(6):452-60. doi: 10.1093/jnci/djs126. Epub 2012 Mar 6.

    See PubMed abstract for multiple related items.

    Press: CYP2D6 Genotype Not Predictive of Tamoxifen Effectiveness. (Medscape)

    Press: Studies show that CYP2D6 genotype does not predict tamoxifen benefit. (EurekAlert!)

    • Mammographic breast density and breast cancer: evidence of a shared genetic basis.
    • Varghese JS, Thompson DJ, Michailidou K, Lindström S, Turnbull C, Brown J, Leyland J, Warren RM, Luben RN, Loos RJ, Wareham NJ, Rommens J, Paterson AD, Martin LJ, Vachon CM, Scott CG, Atkinson EJ, Couch FJ, Apicella C, Southey MC, Stone J, Li J, Eriksson L, Czene K, Boyd NF, Hall P, Hopper JL, Tamimi RM; MODE Consortium, Rahman N, Easton DF.
    • Cancer Res. 2012 Mar 15;72(6):1478-84. doi: 10.1158/0008-5472.CAN-11-3295. Epub 2012 Jan 19.
    • Effect of CYP2D6 polymorphisms on breast cancer recurrence.
    • Morrow PK, Serna R, Broglio K, Pusztai L, Nikoloff DM, Hillman GR, Fontecha M, Li R, Michaud L, Hortobagyi G, Gonzalez-Angulo AM.
    • Cancer. 2012 Mar 1;118(5):1221-7. doi: 10.1002/cncr.26407. Epub 2011 Aug 5.
    • Novel germline PALB2 truncating mutations in African American breast cancer patients.
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.
    • Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.
    • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
    • Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.
    • Breast Cancer Res. 2012 Feb 20;14(1):R33.
    • Gene-gene interactions in breast cancer susceptibility.
    • Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D, Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK), EMBRACE, Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman N.
    • Hum Mol Genet. 2012 Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A.
    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.
    • FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma.
    • Ma YP, van Leeuwen FE, Cooke R, Broeks A, Enciso-Mora V, Olver B, Lloyd A, Broderick P, Russell NS, Janus C, Ashworth A, Houlston RS, Swerdlow AJ.
    • Blood. 2012 Jan 26;119(4):1029-31. doi: 10.1182/blood-2011-10-383380. Epub 2011 Dec 5.
    • Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
    • Byrd PJ, Srinivasan V, Last JI, Smith A, Biggs P, Carney EF, Exley A, Abson C, Stewart GS, Izatt L, Taylor AM.
    • Br J Cancer. 2012 Jan 17;106(2):262-8. doi: 10.1038/bjc.2011.534. Epub 2011 Dec 6.
    • Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients.
    • Noh JM, Choi DH, Nam SJ, Lee JE, Kim JW, Kim SW, Kang E, Lee MH, Ahn SH, Kim KS, Park SK, Haffty BG; Korea Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2012 Jan;131(1):217-22. doi: 10.1007/s10549-011-1718-5. Epub 2011 Aug 17.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 and BRCA2 mutation carriers?

    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.
    • Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
    • Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, Kconfab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG.
    • Hum Mutat. 2012 Jan;33(1):95-9. doi: 10.1002/humu.21625. Epub 2011 Nov 4.
    • The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.
    • Liu C, Wang Y, Wang QS, Wang YJ.
    • Asian Pac J Cancer Prev. 2012;13(4):1355-60.
    • CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.
    • Angelova SG, Krasteva ME, Gospodinova ZI, Georgieva EI.
    • Neoplasma. 2012;59(6):622-30. doi: 10.4149/neo_2012_079.