Individual VUS Reports ~ Variants of Uncertain Significance
~ Genetics of Breast & Ovarian Cancer

References reporting on small set of or single variants or types of VUS, includes case reports and family histories of VUS carriers

List was last updated on Dec 9, 2019 @ 9:12 am.


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

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

    • A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
    • Dawson LM, Smith KN, Werdyani S, Ndikumana R, Penney C, Wiede LL, Smith KL, Pater JA, MacMillan A, Green J, Drover S, Young TL, O'Rielly DD.
    • Mol Genet Genomic Med. 2019 Nov 28:e1070. doi: 10.1002/mgg3.1070. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
    • van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D.
    • Mol Genet Genomic Med. 2019 Nov 13:e1045. doi: 10.1002/mgg3.1045. [Epub ahead of print]
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Functional characterization of 84 PALB2 variants of uncertain significance.
    • Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ.
    • Genet Med. 2019 Oct 21. doi: 10.1038/s41436-019-0682-z. [Epub ahead of print]
    • A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
    • Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY.
    • Nucleic Acids Res. 2019 Oct 5. pii: gkz780. doi: 10.1093/nar/gkz780. [Epub ahead of print]
    • Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
    • Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL.
    • Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613.
    • A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
    • Esposito MV, Minopoli G, Esposito L, D'Argenio V, Di Maggio F, Sasso E, D'Aiuto M, Zambrano N, Salvatore F.
    • Cancers (Basel). 2019 Sep 28;11(10). pii: E1454. doi: 10.3390/cancers11101454.
    • Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
    • Wu B, Peng Y, Eggert J, Alexov E.
    • Int J Mol Sci. 2019 Sep 28;20(19). pii: E4828. doi: 10.3390/ijms20194828.
    • Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
    • Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M.
    • BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0.
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, Nasioulas G.
    • BMC Med Genet. 2019 Jul 26;20(1):131. doi: 10.1186/s12881-019-0862-3.
    • Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
    • Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Hum Mutat. 2019 Jul 25. doi: 10.1002/humu.23882. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [Epub ahead of print]
    • A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.
    • Bogdanova NV, Schürmann P, Valova Y, Dubrowinskaja N, Turmanov N, Yugay T, Essimsiitova Z, Mingazheva E, Prokofyeva D, Bermisheva M, Khusnutdinova E, Dörk T.
    • Front Oncol. 2019 Jun 14;9:493. doi: 10.3389/fonc.2019.00493. eCollection 2019.
    • Discovery of a pathogenic variant rs139379666 (p. P2974L) in ATM for breast cancer risk in Chinese populations.
    • Guo X, Lin W, Bai M, Li H, Wen W, Zeng C, Chen Z, He J, Chen J, Cai Q, Long J, Jia WH, Shu XO, Zheng W.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jun 3. pii: cebp.1294.2018. doi: 10.1158/1055-9965.EPI-18-1294. [Epub ahead of print]
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
    • Suszynska M, Kluzniak W, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P.
    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
    • Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Caloca MJ, Gómez-Barrero S, Velasco EA.
    • Front Genet. 2019 May 28;10:503. doi: 10.3389/fgene.2019.00503. eCollection 2019.
    • Assessment of PARP4 as a candidate breast cancer susceptibility gene.
    • Prawira A, Munusamy P, Yuan J, Chan CHT, Koh GL, Shuen TWH, Hu J, Yap YS, Tan MH, Ang P, Lee ASG.
    • Breast Cancer Res Treat. 2019 May 22. doi: 10.1007/s10549-019-05286-w. [Epub ahead of print]
    • Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
    • Wangensteen T, Felde CN, Ahmed D, Mæhle L, Ariansen SL.
    • Hered Cancer Clin Pract. 2019 May 22;17:14. doi: 10.1186/s13053-019-0113-9. eCollection 2019.
    • Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.
    • Garg A, Pal D.
    • Hum Mutat. 2019 May 20. doi: 10.1002/humu.23800. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • Functional characterization of novel pathogenic germline TP53 variants in Swedish families.
    • Kharaziha P, Ceder S, Axell O, Krall M, Fotouhi O, Böhm S, Lain S, Borg Å, Larsson C, Wiman KG, Tham E, Bajalica-Lagercrantz S.
    • Clin Genet. 2019 May 12. doi: 10.1111/cge.13564. [Epub ahead of print]
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
    • Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D.
    • Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9.
    • Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
    • Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.
    • J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14.
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
    • Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O.
    • Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14.
    • Case report
    • Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.
    • Smith MJ, Woodward ER, Burghel GJ, Banks C, Morgan RD, Wallace AJ, Turnbull C, Evans DG.
    • Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26.
    • Letter
    • Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
    • Adamovich AI, Banerjee T, Wingo M, Duncan K, Ning J, Martins Rodrigues F, Huang KL, Lee C, Chen F, Ding L, Parvin JD.
    • PLoS Genet. 2019 Mar 29;15(3):e1008049. doi: 10.1371/journal.pgen.1008049. [Epub ahead of print]
    • Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
    • Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, Investigators K, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M.
    • J Med Genet. 2019 Mar 19. pii: jmedgenet-2018-105834. doi: 10.1136/jmedgenet-2018-105834. [Epub ahead of print]
    • Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA.
    • J Pathol. 2019 Mar 18. doi: 10.1002/path.5268. [Epub ahead of print]
    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
    • Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.
    • DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
    • Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A.
    • Genet Med. 2019 Mar;21(3):683-693. doi: 10.1038/s41436-018-0092-7. Epub 2018 Jul 28.
    • Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
    • Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR.
    • Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e.
    • Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
    • Lattimore VL, Pearson JF, Morley-Bunker AE, Investigators K, Spurdle AB, Robinson BA, Currie MJ, Walker LC.
    • Int J Mol Sci. 2019 Feb 6;20(3). pii: E693. doi: 10.3390/ijms20030693.
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.
    • Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P.
    • Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
    • Minucci A, Lalle M, De Leo R, Mazzuccato G, Scambia G, Urbani A, Fagotti A, Concolino P, Capoluongo E.
    • Clin Biochem. 2019 Jan;63:54-58. doi: 10.1016/j.clinbiochem.2018.10.004. Epub 2018 Oct 10.
    • Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    • Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network.
    • Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
    • Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22.
    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
    • Solodskikh SA, Panevina AV, Gryaznova MV, Gureev AP, Serzhantova OV, Mikhailov AA, Maslov AY, Popov VN.
    • Mutat Res. 2019 Jan;813:51-57. doi: 10.1016/j.mrfmmm.2018.12.005. Epub 2018 Dec 29.
    • Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing.
    • Heczkova M, Machackova E, Macinga P, Gallmeier E, Cahova M, Spicak J, Jirsa M, Foretova L, Hucl T.
    • Cancer Biol Ther. 2019;20(5):633-641. doi: 10.1080/15384047.2018.1550566. Epub 2019 Jan 13.
    • A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
    • Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.
    • Case report
    • BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
    • Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.
    • Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24.
    • Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
    • Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N.
    • Hum Genomics. 2018 Nov 20;12(1):51. doi: 10.1186/s40246-018-0183-1.
    • Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
    • Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
    • Cancers (Basel). 2018 Nov 16;10(11). pii: E453. doi: 10.3390/cancers10110453.
    • Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
    • Tudini E, Moghadasi S, Parsons MT, van der Kolk L, van den Ouweland AMW, Niederacher D, Feliubadaló L, Wappenschmidt B, Spurdle AB, Lazaro C.
    • Breast Cancer Res Treat. 2018 Nov;172(2):497-503. doi: 10.1007/s10549-018-4903-y. Epub 2018 Aug 13.
    • Unusual recurrence of breast cancer in a BRCA-variant patient after fat grafting.
    • Skendelas JP, Lee C, Mangino A, Carson WE 3rd.
    • Clin Case Rep. 2018 Oct 31;6(12):2457-2462. doi: 10.1002/ccr3.1861. eCollection 2018 Dec.
    • Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
    • Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P.
    • Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. eCollection 2018.
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
    • Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M8, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.
    • Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372.
    • Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
    • Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S.
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    Retraction of Publication:

    Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer.

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    • Cancer Genet. 2016 Nov;209(11):487-492. doi: 10.1016/j.cancergen.2016.09.003. Epub 2016 Sep 20.
    • A second DNA binding site in human BRCA2 promotes homologous recombination.
    • von Nicolai C, Ehlén Å, Martin C, Zhang X, Carreira A.
    • Nat Commun. 2016 Sep 15;7:12813. doi: 10.1038/ncomms12813.
    • Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
    • Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H.
    • Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.

    In This Issue:

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

    • Molecular characterization, homology modeling and docking studies of the R2787H missense variation in BRCA2 gene: Association with breast cancer.
    • Riahi A, Messaoudi A, Mrad R, Fourati A, Chabouni-Bouhamed H, Kharrat M.
    • J Theor Biol. 2016 Aug 21;403:188-96. doi: 10.1016/j.jtbi.2016.05.013. Epub 2016 May 19.
    • Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
    • Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B.
    • PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016.
    • Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
    • Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M.
    • J Med Genet. 2016 Aug;53(8):548-558. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

    Press: Naturally Occurring BRCA2 Alternative mRNA Splicing Events in Clinically Relevant Samples. (Medscape Oncology)

    • Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.
    • Minucci A, De Bonis M, Costella A, Scambia G, Scandurra G, Capoluongo E.
    • Expert Rev Mol Diagn. 2016 Jul;16(7):715-7. doi: 10.1080/14737159.2016.1184573. Epub 2016 May 17.

    Editorial

    The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.

    • Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
    • de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB.
    • Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. Epub 2016 Mar 23.
    • BRCA2 minor transcript lacking exons4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.
    • Thirthagiri E, Klarmann KD, Shukla AK, Southon E, Biswas K, Martin BK, North SL, Magidson V, Burkett S, Haines DC, Noer K, Matthai R, Tessarollo L, Loncarek J, Keller JR, Sharan SK.
    • Hum Mol Genet. 2016 May 15;25(10):1934-1945. Epub 2016 Feb 26.
    • RAD51B in Familial Breast Cancer.
    • Pelttari LM, Khan S, Vuorela M, Kiiski JI, Vilske S, Nevanlinna V, Ranta S, Schleutker J, Winqvist R, Kallioniemi A, Dörk T, Bogdanova NV, Figueroa J, Pharoah PD, Schmidt MK, Dunning AM, García-Closas M, Bolla MK, Dennis J, Michailidou K, Wang Q, Hopper JL, Southey MC, Rosenberg EH, Fasching PA, Beckmann MW, Peto J, Dos-Santos-Silva I, Sawyer EJ, Tomlinson I, Burwinkel B, Surowy H, Guénel P, Truong T, Bojesen SE, Nordestgaard BG, Benitez J, González-Neira A, Neuhausen SL, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler RK, Brauch H, Brüning T, Lindblom A, Margolin S, Mannermaa A, Hartikainen JM, Chenevix-Trench G; kConFab/AOCS Investigators, Van Dyck L, Janssen H, Chang-Claude J, Rudolph A, Radice P, Peterlongo P, Hallberg E, Olson JE, Giles GG, Milne RL, Haiman CA, Schumacher F, Simard J, Dumont M, Kristensen V, Borresen-Dale AL, Zheng W, Beeghly-Fadiel A, Grip M, Andrulis IL, Glendon G, Devilee P, Seynaeve C, Hooning MJ, Collée M, Cox A, Cross SS, Shah M, Luben RN, Hamann U, Torres D, Jakubowska A, Lubinski J, Couch FJ, Yannoukakos D, Orr N, Swerdlow A, Darabi H, Li J, Czene K, Hall P, Easton DF, Mattson J, Blomqvist C, Aittomäki K, Nevanlinna H.
    • PLoS One. 2016 May 5;11(5):e0153788. doi: 10.1371/journal.pone.0153788. eCollection 2016.
    • Evidence for a pathogenic role of BRCA1 L1705P and W1837X germ-line mutations.
    • Sokolenko AP, Volkov NM, Preobrazhenskaya EV, Suspitsin EN, Garifullina AR, Ivantsov AV, Togo AV, Imyanitov EN.
    • Mol Biol Rep. 2016 May;43(5):335-8. doi: 10.1007/s11033-016-3968-0. Epub 2016 Mar 7.
    • Case report
    • Medical implications of technical accuracy in genome sequencing.
    • Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.
    • Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.
    • BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
    • Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D; EMBRACE, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A; kConFab Investigators, James PA, Bruinsma F, Campbell IG; Australia Ovarian Cancer Study Group, Broeks A, Schmidt MK, Hogervorst FB; HEBON, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T; GEMO Study Collaborators, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomäki K, Butzow R, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken TV, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira MR, Collavoli A, Hallberg E, Olson JE, Goode EL, Hart SN, Shimelis H, Cunningham JM, Giles GG, Milne RL, Healey S, Tucker K, Haiman CA, Henderson BE, Goldberg MS, Tischkowitz M, Simard J, Soucy P, Eccles DM, Le N, Borresen-Dale AL, Kristensen V, Salvesen HB, Bjorge L, Bandera EV, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar RA, Ouweland AM, Andrulis IL, Knight JA; OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene MH, Mai PL, Loud JT, García-Closas M, Schoemaker MJ, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park SK, Teo SH, Yoon SY, Matsuo K, Hosono S, Woo YL, Gao YT, Foretova L, Singer CF, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov EN, Hulick PJ, Olopade OI, Senter L, Olah E, Doherty JA, Schildkraut J, Koppert LB, Kiemeney LA, Massuger LF, Cook LS, Pejovic T, Li J, Borg A, Öfverholm A, Rossing MA, Wentzensen N, Henriksson K, Cox A, Cross SS, Pasini BJ, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson BA, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M; PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome, Antoniou AC, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning AM, Pharoah PD, Hall P, Easton DF, Couch FJ, Spurdle AB, Goldgar DE.
    • J Natl Cancer Inst. 2015 Nov 19;108(2). pii: djv315. doi: 10.1093/jnci/djv315. Print 2016 Feb.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 c.9976A>T classification

    • Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
    • Soukarieh O, Gaildrat P, Hamieh M, Drouet A, Baert-Desurmont S, Frébourg T, Tosi M, Martins A.
    • PLoS Genet. 2016 Jan 13;12(1):e1005756. doi: 10.1371/journal.pgen.1005756. eCollection 2016.

    Research Highlight

    RNA: Exonic splicing mutation prevalence.

    • Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.
    • Zhang X, Wang T, Wang W, Ding Y, Zhou L, Chen Q, Gao X, Wu Y, Mei Y, Jin Y, Gao Q, Yi L.
    • Gene. 2015 Dec 1;573(2):333-7. doi: 10.1016/j.gene.2015.08.069. Epub 2015 Sep 4.
    • Case report
    • Early Occurrence of Angiosarcoma in a Woman With a BRCA2 Gene Variation of Unknown Significance Treated With Breast-Conserving Therapy for Bilateral Ductal Carcinoma: A Case Report.
    • Parvez E, Popovic S, Elavathil L, Okawara G, Hodgson N.
    • Clin Breast Cancer. 2015 Dec;15(6):536-8. doi: 10.1016/j.clbc.2015.06.011. Epub 2015 Jun 22.
    • Case report
    • BRCA1 gene variant p.P142H associated with male breast cancer: a two-generation genealogic study and literature review.
    • Spinelli C, Strambi S, Piccini L, Rossi L, Aretini P, Caligo A.
    • Fam Cancer. 2015 Dec;14(4):515-9. doi: 10.1007/s10689-015-9819-7.
    • Case report, Review
    • Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.
    • Lee C, Banerjee T, Gillespie J, Ceravolo A, Parvinsmith MR, Starita LM, Fields S, Toland AE, Parvin JD.
    • Hum Mutat. 2015 Dec;36(12):1205-14. doi: 10.1002/humu.22902. Epub 2015 Sep 22.
    • Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.
    • Thompson ER, Gorringe KL, Rowley SM, Li N, McInerny S, Wong-Brown MW, Devereux L, Li J; Lifepool Investigators, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.
    • Sci Rep. 2015 Oct 12;5:14800. doi: 10.1038/srep14800.
    • A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
    • Wang N, Ding H, Liu C, Li X, Wei L, Yu J, Liu M, Ying M, Gao W, Jiang H, Wang Y.
    • Oncogene. 2015 Oct 1;34(40):5198-205. doi: 10.1038/onc.2014.443. Epub 2015 Jan 26.
    • Occurrence of a non deleterious gene conversion event in the BRCA1 gene.
    • Tessereau C, Léoné M, Buisson M, Duret L, Sinilnikova OM, Mazoyer S.
    • Genes Chromosomes Cancer. 2015 Oct;54(10):646-52. doi: 10.1002/gcc.22278. Epub 2015 Jul 14.
    • Case report
    • FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
    • Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.
    • Clin Cancer Res. 2015 Sep 15;21(18):4086-96. doi: 10.1158/1078-0432.CCR-15-0296. Epub 2015 May 11.
    • Meta-Analysis
    • Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.
    • Vietri MT, Caliendo G, Schiano C, Casamassimi A, Molinari AM, Napoli C, Cioffi M.
    • Fam Cancer. 2015 Sep;14(3):341-8. doi: 10.1007/s10689-015-9786-z.
    • Letter
    • The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance.
    • Varga E, Chao EC, Yeager ND.
    • Fam Cancer. 2015 Sep;14(3):481-5. doi: 10.1007/s10689-015-9790-3.
    • The BRCA2 polymorphic stop codon: stuff or nonsense?
    • Higgs JE, Harkness EF, Bowers NL, Howard E, Wallace AJ, Lalloo F, Newman WG, Evans DG.
    • J Med Genet. 2015 Sep;52(9):642-5. doi: 10.1136/jmedgenet-2015-103206. Epub 2015 Jun 3.
    • Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Oyama T, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Sep;3(5):459-66. doi: 10.1002/mgg3.157. Epub 2015 May 12.
    • A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.
    • Hadiji-Abbes N, Trifa F, Choura M, Khabir A, Sellami-Boudawara T, Frikha M, Daoud J, Mokdad-Gargouri R.
    • Pathol Biol (Paris). 2015 Sep;63(4-5):185-9. doi: 10.1016/j.patbio.2015.07.009. Epub 2015 Aug 29.
    • Case report
    • Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
    • Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry, Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB.
    • Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2.
    • Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
    • Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.
    • Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.
    • Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.
    • Gaboriau DC, Rowling PJ, Morrison CG, Itzhaki LS.
    • Biochem J. 2015 Mar 15;466(3):613-24. doi: 10.1042/BJ20141077.
    • Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient.
    • Oh SE, Kim SH, Kim MS, Kim MK.
    • Obstet Gynecol Sci. 2015 Mar;58(2):175-8. doi: 10.5468/ogs.2015.58.2.175. Epub 2015 Mar 16.
    • The FEN1 E359K germline mutation disrupts the FEN1-WRN interaction and FEN1 GEN activity, causing aneuploidy-associated cancers.
    • Chung L, Onyango D, Guo Z, Jia P, Dai H, Liu S, Zhou M, Lin W, Pang I, Li H, Yuan YC, Huang Q, Zheng L, Lopes J, Nicolas A, Chai W, Raz D, Reckamp KL, Shen B.
    • Oncogene. 2015 Feb 12;34(7):902-11. doi: 10.1038/onc.2014.19. Epub 2014 Mar 10.
    • Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons.
    • Acedo A, Hernández-Moro C, Curiel-García Á, Díez-Gómez B, Velasco EA.
    • Hum Mutat. 2015 Feb;36(2):210-21. doi: 10.1002/humu.22725.
    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
    • Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L.
    • BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3.
    • Unknown significance.
    • Couzin-Frankel J.
    • Science. 2014 Dec 5;346(6214):1167-70. doi: 10.1126/science.346.6214.1167.

    Press: Feature: Peering into my genome (Science)

    • Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
    • Steffensen AY, Dandanell M, Jønson L, Ejlertsen B, Gerdes AM, Nielsen FC, Hansen TV.
    • Eur J Hum Genet. 2014 Dec;22(12):1362-1368. doi: 10.1038/ejhg.2014.40. Epub 2014 Mar 26.
    • An integrated in silico approach to analyze the involvement of single amino acid polymorphisms in FANCD1/BRCA2-PALB2 and FANCD1/BRCA2-RAD51 complex.
    • Doss CG, Nagasundaram N.
    • Cell Biochem Biophys. 2014 Nov;70(2):939-56. doi: 10.1007/s12013-014-0002-9.
    • Association of BRCA2 N372H polymorphism with cancer susceptibility: A comprehensive review and meta-analysis.
    • Xue WQ, He YQ, Zhu JH, Ma JQ, He J, Jia WH.
    • Sci Rep. 2014 Oct 28;4:6791. doi: 10.1038/srep06791.
    • The K898E germline variant in the PP1-binding motif of BRCA1 causes defects in DNA Repair.
    • Chen BY, Huang CH, Lin YH, Huang CC, Deng CX, Hsu LC.
    • Sci Rep. 2014 Jul 24;4:5812. doi: 10.1038/srep05812.
    • BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation.
    • Tammaro C, Raponi M, Wilson DI, Baralle D.
    • Int J Mol Sci. 2014 Jul 23;15(7):13045-59. doi: 10.3390/ijms150713045.
    • A germline mutation in the BRCA1 3'UTR predicts Stage IV breast cancer.
    • Dorairaj JJ, Salzman DW, Wall D, Rounds T, Preskill C, Sullivan CA, Lindner R, Curran C, Lezon-Geyda K, McVeigh T, Harris L, Newell J, Kerin MJ, Wood M, Miller N, Weidhaas JB.
    • BMC Cancer. 2014 Jun 10;14:421. doi: 10.1186/1471-2407-14-421.
    • Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
    • Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B.
    • Breast Cancer Res Treat. 2014 Jun;145(2):451-60. doi: 10.1007/s10549-014-2943-5. Epub 2014 Apr 12.
    • Probing Structure-Function Relationships in Missense Variants in the Carboxy-Terminal Region of BRCA1.
    • Carvalho RS, Abreu RB, Velkova A, Marsillac S, Rodarte RS, Suarez-Kurtz G, Iversen ES, Monteiro AN, Carvalho MA.
    • PLoS One. 2014 May 20;9(5):e97766. doi: 10.1371/journal.pone.0097766. eCollection 2014.
    • Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?
    • D'Argenio V, Esposito MV, Gilder JA, Frisso G, Salvatore F.
    • Cancer. 2014 May 15;120(10):1594-5. doi: 10.1002/cncr.28605. Epub 2014 Feb 5.
    • The BRCA1 Variant p.Ser36Tyr Abrogates BRCA1 Protein Function and Potentially Confers a Moderate Risk of Breast Cancer.
    • Christou CM, Hadjisavvas A, Kyratzi M, Flouri C, Neophytou I, Anastasiadou V, Loizidou MA, Kyriacou K.
    • PLoS One. 2014 Apr 2;9(4):e93400. doi: 10.1371/journal.pone.0093400. eCollection 2014.
    • A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.
    • Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.
    • Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505. Epub 2014 Feb 15.
    • Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation.
    • Whiley PJ, Parsons MT, Leary J, Tucker K, Warwick L, Dopita B, Thorne H, Lakhani SR, Goldgar DE, Brown MA, Spurdle AB.
    • PLoS One. 2014 Jan 28;9(1):e86836. doi: 10.1371/journal.pone.0086836. eCollection 2014.
    • Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31 BRCA2 Genetic Variants.
    • de Garibay GR, Acedo A, García-Casado Z, Gutiérrez-Enríquez S, Tosar A, Romero A, Garre P, Llort G, Thomassen M, Díez O, Pérez-Segura P, Díaz-Rubio E, Velasco EA, Caldés T, de la Hoya M.
    • Hum Mutat. 2014 Jan;35(1):53-7. doi: 10.1002/humu.22456. Epub 2013 Oct 28.
    • cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A.
    • Wong-Brown M, McPhillips M, Hipwell M, Pecenpetelovska G, Dooley S, Meldrum C, Scott R.
    • Clin Genet. 2013 Nov;84(5):505-6. doi: 10.1111/cge.12052. Epub 2012 Dec 20.
    • Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
    • Bonache S, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
    • Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31.
    • Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
    • Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frébourg T, Tosi M, Martins A.
    • Hum Mutat. 2013 Nov;34(11):1547-1557. doi: 10.1002/humu.22428. Epub 2013 Sep 18.
    • Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
    • Guglielmi C, Cerri I, Evangelista M, Collavoli A, Tancredi M, Aretini P, Caligo MA.
    • Breast Cancer Res Treat. 2013 Oct;141(3):515-22. doi: 10.1007/s10549-013-2705-9. Epub 2013 Oct 9.
    • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.
    • Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E.
    • J Hum Genet. 2013 Sep;58(9):618-21. doi: 10.1038/jhg.2013.71. Epub 2013 Jul 11.
    • Assessment of SLX4 Mutations in Hereditary Breast Cancers.
    • Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A.
    • PLoS One. 2013 Jun 26;8(6):e66961. Print 2013.
    • Identification of a non-canonical nuclear localization signal (NLS) in BRCA1 that could mediate nuclear localization of splice variants lacking the classical NLS.
    • Korlimarla A, Bhandary L, Prabhu JS, Shankar H, Sankaranarayanan H, Kumar P, Remacle J, Natarajan D, Sridhar TS.
    • Cell Mol Biol Lett. 2013 Jun;18(2):284-96. doi: 10.2478/s11658-013-0088-x. Epub 2013 May 15.
    • Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.
    • Tram E, Savas S, Ozcelik H.
    • PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.
    • Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.
    • Sevcik J, Falk M, Macurek L, Kleiblova P, Lhota F, Hojny J, Stefancikova L, Janatova M, Bartek J, Stribrna J, Hodny Z, Jezkova L, Pohlreich P, Kleibl Z.
    • Cell Signal. 2013 May;25(5):1186-93. doi: 10.1016/j.cellsig.2013.02.008. Epub 2013 Feb 14.
    • Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants.
    • Quiles F, Fernández-Rodríguez J, Mosca R, Feliubadaló L, Tornero E, Brunet J, Blanco I, Capellá G, Pujana MÀ, Aloy P, Monteiro A, Lázaro C.
    • PLoS One. 2013 Apr 17;8(4):e61302. doi: 10.1371/journal.pone.0061302. Print 2013.
    • BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.
    • D'Andrea AD.
    • Cancer Discov. 2013 Apr;3(4):376-8. doi: 10.1158/2159-8290.CD-13-0044.

    Case report:

    Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

    • Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
    • Domchek SM1, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA.
    • Cancer Discov. 2013 Apr;3(4):399-405. doi: 10.1158/2159-8290.CD-12-0421. Epub 2012 Dec 26.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 deleterious mutation plus VUS on exon 9

    Commentary

    BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.

    • Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing.
    • Towler WI, Zhang J, Ransburgh DJ, Toland AE, Ishioka C, Chiba N, Parvin JD.
    • Hum Mutat. 2013 Mar;34(3):439-445. doi: 10.1002/humu.22251. Epub 2012 Dec 12.
    • Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
    • Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.
    • PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.
    • 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.
    • A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
    • Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler R, Domchek S, Nathanson K, Radice P, Singer C, Tonin PN, Lindor NM, Goldgar DE, Couch FJ.
    • Cancer Res. 2013 Jan 1;73(1):265-75. doi: 10.1158/0008-5472.CAN-12-2081. Epub 2012 Oct 29.
    • Support of the 'fallopian tube hypothesis' in a prospective series of risk-reducing salpingo-oophorectomy specimens.
    • Reitsma W, de Bock GH, Oosterwijk JC, Bart J, Hollema H, Mourits MJ.
    • Eur J Cancer. 2013 Jan;49(1):132-41. doi: 10.1016/j.ejca.2012.07.021. Epub 2012 Aug 21.
    • 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.
    • Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
    • Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, Kast K, Arnold N, Rhiem K, Hahnen E, Meindl A, Schmutzler RK.
    • PLoS One. 2012;7(12):e50800. doi: 10.1371/journal.pone.0050800. Epub 2012 Dec 11.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
    • Brewster BL, Rossiello F, French JD, Edwards SL, Wong M, Wronski A, Whiley P, Waddell N, Chen X, Bove B, Kconfab, Hopper JL, John EM, Andrulis I, Daly M, Volorio S, Bernard L, Peissel B, Manoukian S, Barile M, Pizzamiglio S, Verderio P, Spurdle AB, Radice P, Godwin AK, Southey MC, Brown MA, Peterlongo P.
    • Hum Mutat. 2012 Dec;33(12):1665-75. doi: 10.1002/humu.22159. Epub 2012 Aug 2.
    • Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
    • Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.
    • J Med Genet. 2012 Oct;49(10):609-17. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.
    • Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
    • Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK.
    • Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7.
    • 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.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

    Free article: BRCA1 R1699Q Variant Displaying Ambiguous Functional Abrogation Confers Intermediate Breast and Ovarian Cancer Risk. (Medscape)

    • Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.
    • Cortesi L, De Nicolo A, Medici V, Marino M, Turchetti D, Pradella LM, Rossi G, Parisini E, Federico M.
    • Breast Cancer Res Treat. 2012 Jul;134(1):435-41. doi: 10.1007/s10549-012-2052-2. Epub 2012 Apr 22.
    • Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
    • Brandão RD, Tserpelis D, Gómez García E, Blok MJ.
    • Mol Biol Rep. 2012 Jul;39(7):7429-33. doi: 10.1007/s11033-012-1575-2. Epub 2012 Feb 17.
    • 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.
    • Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
    • Rath MG, Fathali-Zadeh F, Langheinz A, Tchatchou S, Voigtländer T, Heil J, Golatta M, Schott S, Drasseck T, Behnecke A, Burgemeister AL, Evers C, Bugert P, Junkermann H, Schneeweiss A, Bartram CR, Sohn C, Sutter C, Burwinkel B.
    • Breast Cancer Res Treat. 2012 Jun;133(2):725-34. doi: 10.1007/s10549-011-1917-0. Epub 2012 Jan 8.
    • Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
    • Acedo A, Sanz DJ, Durán M, Infante M, Pérez-Cabornero L, Miner C, Velasco EA.
    • Breast Cancer Res. 2012 May 25;14(3):R87.
    • The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.
    • Sevcik J, Falk M, Kleiblova P, Lhota F, Stefancikova L, Janatova M, Weiterova L, Lukasova E, Kozubek S, Pohlreich P, Kleibl Z.
    • Cell Signal. 2012 May;24(5):1023-30. doi: 10.1016/j.cellsig.2011.12.023. Epub 2012 Jan 3.
    • 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.

    • Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
    • Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C.
    • Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7.
    • Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
    • Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A.
    • Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.
    • BRCA1 and BRCA2 mutations in ovarian cancer.
    • Buerkle B, Tempfer C.
    • JAMA. 2012 Jan 25;307(4):359; author reply 360-1. doi: 10.1001/jama.2012.8.
    • Comment, Letter

    Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.

    • BRCA1 c.4987-3C>G is a pathogenic mutation.
    • Brandão RD, van Roozendaal KE, Tserpelis D, Caanen B, Gómez García E, Blok MJ.
    • Breast Cancer Res Treat. 2012 Jan;131(2):723-5. doi: 10.1007/s10549-011-1878-3. Epub 2011 Nov 24.

    Research:

    BRCA1 c.4987-3C>G is a pathogenic mutation.

    • 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 and interpretation of RNA splicing alterations in genes involved in genetic disorders.
    • Vreeswijk MP, van der Klift HM.
    • Methods Mol Biol. 2012;867:49-63. doi: 10.1007/978-1-61779-767-5_4.