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

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    • 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.
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    • Oncol Nurs Forum. 2014 Nov 1;41(6):692-4. doi: 10.1188/14.ONF.692-694.
    • Beyond BRCA1 and BRCA2.
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    • 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.
    • Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ.
    • 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

    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Breast cancer genes: Beyond BRCA1 and BRCA2.
    • Tabitha M. Powledge.
    • Genetic Literacy Project, 2014 Apr 8.
    • A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.
    • Bąk A, Janiszewska H, Junkiert-Czarnecka A, Heise M, Pilarska-Deltow M, Laskowski R, Pasińska M, Haus O.
    • Hered Cancer Clin Pract. 2014 Apr 8;12(1):10. doi: 10.1186/1897-4287-12-10.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

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

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

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
    • Tavtigian SV, Chenevix-Trench G.
    • Biomark Med. [2014 Apr;];8(4):589-603. doi: 10.2217/bmm.13.143.
    • Survival from breast cancer in patients with CHEK2 mutations.
    • Huzarski T, Cybulski C, Wokolorczyk D, Jakubowska A, Byrski T, Gronwald J, Domagała P, Szwiec M, Godlewski D, Kilar E, Marczyk E, Siołek M, Wiśniowski R, Janiszewska H, Surdyka D, Sibilski R, Sun P, Lubiński J, Narod SA.
    • Breast Cancer Res Treat. 2014 Apr;144(2):397-403. doi: 10.1007/s10549-014-2865-2. Epub 2014 Feb 21.
    • Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families.
    • Heikkinen T, Khan S, Huovari E, Vilske S, Schleutker J, Kallioniemi A, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Breast Cancer Res Treat. 2014 Apr;144(2):437-41. doi: 10.1007/s10549-014-2884-z. Epub 2014 Feb 22.
    • Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
    • McVeigh TP, Choi JK, Miller NM, Green AJ, Kerin MJ.
    • Clin Breast Cancer. 2014 Apr;14(2):e47-51. doi: 10.1016/j.clbc.2013.10.007. Epub 2013 Oct 25.
    • Case Report, Review
    • Association Between IHC and MSI Testing to Identify Mismatch Repair-Deficient Patients with Ovarian Cancer.
    • Lee JH, Cragun D, Thompson Z, Coppola D, Nicosia SV, Akbari M, Zhang S, McLaughlin J, Narod S, Schildkraut J, Sellers TA, Pal T.
    • Genet Test Mol Biomarkers. 2014 Apr;18(4):229-35. doi: 10.1089/gtmb.2013.0393. Epub 2014 Mar 4.
    • Breast cancer. The 'other' breast cancer genes.
    • Kean S.
    • Science. 2014 Mar 28;343(6178):1457-9. doi: 10.1126/science.343.6178.1457.
    • News
    • TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.
    • Cury NM, Ferraz VE, Silva WA Jr.
    • Hered Cancer Clin Pract. 2014 Mar 13;12(1):8. doi: 10.1186/1897-4287-12-8.
    • [Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].
    • [No authors listed]
    • Mol Biol (Mosk). 2014 Mar-Apr;48(2):243-50.
    • [Article in Russian]
    • Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.
    • Ashton-Prolla P, Vargas FR.
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    • Germline mutations of inhibins in early-onset ovarian epithelial tumors.
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    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.

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

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    Letter, Comment:

    Perspectives on breast cancer in Arab populations.

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    • Meta-Analysis

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: CHEK2 c.470T>C

    Subject: CHEK2 p.I157T mutation?

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    • iCOGS collection provides a collaborative model.
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    • Introductory article

    Blog post: 74 new susceptibility genes found for breast, ovarian and prostate cancer. (Nature Medicine | Spoonful of Medicine)

    • Turning of COGS moves forward findings for hormonally mediated cancers.
    • Sakoda LC, Jorgenson E, Witte JS.
    • Nat Genet. 2013 Apr;45(4):345-8. doi: 10.1038/ng.2587.
    • Introductory article
    • Public health implications from COGS and potential for risk stratification and screening.
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    • Introductory article, Commentary

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

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

    • Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
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    • Nat Genet. 2013 Apr;45(4):353-61. doi: 10.1038/ng.2563.
    • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
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    • Nat Genet. 2013 Apr;45(4):362-70. doi: 10.1038/ng.2564.

    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.
    • Permuth-Wey J, Lawrenson K, Shen HC, Velkova A, Tyrer JP, Chen Z, Lin HY, Ann Chen Y, Tsai YY, Qu X, Ramus SJ, Karevan R, Lee J, Lee N, Larson MC, Aben KK, Anton-Culver H, Antonenkova N, Antoniou AC, Armasu SM; stralian Cancer Study; stralian Ovarian Cancer Study, Bacot F, Baglietto L, Bandera EV, Barnholtz-Sloan J, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Cai Q, Campbell I, Chang-Claude J, Chanock S, Chenevix-Trench G, Cheng JQ, Cicek MS, Coetzee GA; Consortium of Investigators of Modifiers of BRCA1/2, Cook LS, Couch FJ, Cramer DW, Cunningham JM, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dörk T, du Bois A, Dürst M, Easton DF, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher DA, Flanagan JM, Garcia-Closas M, Gentry-Maharaj A, Giles GG, Glasspool RM, Gonzalez-Bosquet J, Goodman MT, Gore M, Górski B, Gronwald J, Hall P, Halle MK, Harter P, Heitz F, Hillemanns P, Hoatlin M, Høgdall CK, Høgdall E, Hosono S, Jakubowska A, Jensen A, Jim H, Kalli KR, Karlan BY, Kaye SB, Kelemen LE, Kiemeney LA, Kikkawa F, Konecny GE, Krakstad C, Krüger Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Lancaster JM, Le ND, Leminen A, Levine DA, Liang D, Kiong Lim B, Lin J, Lissowska J, Lu KH, Lubiński J, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Nedergaard L, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson SH, Orlow I, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Raska P, Renner SP, Risch HA, Rodriguez-Rodriguez L, Anne Rossing M, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shridhar V, Shu XO, Shvetsov YB, Sieh W, Song H, Southey MC, Spiewankiewicz B, Stram D, Sutphen R, Teo SH, Terry KL, Tessier DC, Thompson PJ, Tworoger SS, van Altena AM, Vergote I, Vierkant RA, Vincent D, Vitonis AF, Wang-Gohrke S, Palmieri Weber R, Wentzensen N, Whittemore AS, Wik E, Wilkens LR, Winterhoff B, Ling Woo Y, Wu AH, Xiang YB, Yang HP, Zheng W, Ziogas A, Zulkifli F, Phelan CM, Iversen E, Schildkraut JM, Berchuck A, Fridley BL, Goode EL, Pharoah PD, Monteiro AN, Sellers TA, Gayther SA.
    • 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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    • PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.
    • HOXB13 G84E Mutation in Finland: Population-Based Analysis of Prostate, Breast, and Colorectal Cancer Risk.
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    • Cancer Epidemiol Biomarkers Prev. 2013 Mar;22(3):452-60. doi: 10.1158/1055-9965.EPI-12-1000-T. Epub 2013 Jan 4.
    • Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation.
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    • Fam Cancer. 2013 Mar;12(1):129-32. doi: 10.1007/s10689-012-9575-x.
    • Letter
    • Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
    • Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
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    • Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
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    • Breast Cancer Res. 2013 Feb 28;15(1):R17. doi: 10.1186/bcr3392.
    • Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles.
    • Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J.
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    • An inherited NBN mutation is associated with poor prognosis prostate cancer.
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    • Kiyotani K, Katagiri T.
    • J Hum Genet. 2013 Feb;58(2):58. doi: 10.1038/jhg.2012.142. Epub 2012 Dec 6.

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

    • Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families.
    • Plourde KV, Labrie Y, Desjardins S, Belleau P, Ouellette G, Durocher F; INHERIT BRCAs.
    • J Hum Genet. 2013 Feb;58(2):59-66. doi: 10.1038/jhg.2012.127. Epub 2012 Nov 15.

    Commentary:

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

    • Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.
    • Litim N, Labrie Y, Desjardins S, Ouellette G, Plourde K, Belleau P; INHERIT BRCAs, Durocher F.
    • Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.
    • Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
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    • 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.
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    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.
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    • Genes Cancer. 2013 Jan;4(1-2):15-25. doi: 10.1177/1947601913486344.
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    • 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.
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    • Low level of consanguinity in moroccan families at high risk of breast cancer.
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    • CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer.
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    • 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.
    • Hered Cancer Clin Pract. 2012 Mar 28;10(1):3. doi: 10.1186/1897-4287-10-3.
    • Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
    • Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA.
    • BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84.
    • Novel germline PALB2 truncating mutations in African American breast cancer patients.
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.
    • Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.
    • Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
    • Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G; Genoa Pancreatic Cancer Study Group.
    • Fam Cancer. 2012 Mar;11(1):41-7. doi: 10.1007/s10689-011-9483-5.
    • Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
    • Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P.
    • PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23.
    • Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
    • Solyom S, Aressy B, Pylkäs K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, Kauppila S, Nikkilä J, Kosma VM, Mannermaa A, Greenberg RA, Winqvist R.
    • Sci Transl Med. 2012 Feb 22;4(122):122ra23. doi: 10.1126/scitranslmed.3003223.

    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!)

    Press: New breast cancer gene identified. (PHG Foundation)

    • 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.
    • Germline DNA copy number variation in familial and early-onset breast cancer.
    • Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C.
    • Breast Cancer Res. 2012 Feb 7;14(1):R24.
    • 21-Gene recurrence scores: Racial differences in testing, scores, treatment, and outcome.
    • Lund MJ, Mosunjac M, Davis KM, Gabram-Mendola S, Rizzo M, Bumpers HL, Hearn S, Zelnak A, Styblo T, O'Regan RM.
    • Cancer. 2012 Feb 1;118(3):788-96. doi: 10.1002/cncr.26180. Epub 2011 Jun 30.
    • Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instability.
    • Aysal A, Karnezis A, Medhi I, Grenert JP, Zaloudek CJ, Rabban JT.
    • Am J Surg Pathol. 2012 Feb;36(2):163-72. doi: 10.1097/PAS.0b013e31823bc434.
    • Evaluating breast cancer risk projections for Hispanic women.
    • Banegas MP, Gail MH, LaCroix A, Thompson B, Martinez ME, Wactawski-Wende J, John EM, Hubbell FA, Yasmeen S, Katki HA.
    • Breast Cancer Res Treat. 2012 Feb;132(1):347-53. doi: 10.1007/s10549-011-1900-9. Epub 2011 Dec 7.
    • Hereditary ovarian cancer: Beyond the usual suspects.
    • Pennington KP, Swisher EM.
    • Gynecol Oncol. 2012 Feb;124(2):347-53. doi: 10.1016/j.ygyno.2011.12.415.
    • Review
    • Validation of the Gail model for predicting individual breast cancer risk in a prospective nationwide study of 28,104 Singapore women.
    • Chay WY, Ong WS, Tan PH, Jie Leo NQ, Ho GH, Wong CS, Chia KS, Chow KY, Tan M Sr, Ang P Sr.
    • Breast Cancer Res. 2012 Jan 30;14(1):R19.
    • Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.
    • Somyajit K, Subramanya S, Nagaraju G.
    • J Biol Chem. 2012 Jan 27;287(5):3366-80. doi: 10.1074/jbc.M111.311241. Epub 2011 Dec 13.
    • Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
    • Heravi-Moussavi A, Anglesio MS, Cheng SW, Senz J, Yang W, Prentice L, Fejes AP, Chow C, Tone A, Kalloger SE, Hamel N, Roth A, Ha G, Wan AN, Maines-Bandiera S, Salamanca C, Pasini B, Clarke BA, Lee AF, Lee CH, Zhao C, Young RH, Aparicio SA, Sorensen PH, Woo MM, Boyd N, Jones SJ, Hirst M, Marra MA, Gilks B, Shah SP, Foulkes WD, Morin GB, Huntsman DG.
    • N Engl J Med. 2012 Jan 19;366(3):234-42. doi: 10.1056/NEJMoa1102903. Epub 2011 Dec 21.

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

    • 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.
    • Cancer predisposing BARD1 mutations in breast-ovarian cancer families.
    • Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg Å, Kusmierek H, Biernat W, Limon J.
    • Breast Cancer Res Treat. 2012 Jan;131(1):89-97. doi: 10.1007/s10549-011-1403-8. Epub 2011 Feb 23.
    • 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.
    • Breast cancer in the Arctic - changes over the past decades.
    • Fredslund SO, Bonefeld-Jørgensen EC.
    • Int J Circumpolar Health. 2012 Jan;71(1):19155. doi: 10.3402/ijch.v71i0.19155.

    Review:

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

    • CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.
    • Yang Y, Zhang F, Wang Y, Liu SC.
    • Asian Pac J Cancer Prev. 2012;13(7):3501-5.
    • Familial breast cancer registry program in patients referred to the cancer institute of iran.
    • Sabokbar T, Khajeh E, Taghdiri F, Peyghambari V, Shirkoohi R.
    • Asian Pac J Cancer Prev. 2012;13(6):2675-9.
    • Risk factors for premenopausal breast cancer: a case-control study in Uruguay.
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