Rearrangements of BRCA1/2 ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

List was last updated on Feb 19, 2023 @ 12:35 am.


    • Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
    • Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM.
    • Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01284-1. Epub ahead of print.
    • Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
    • Díaz Velásquez CE, Gitler R, Antoniano A, Kershenovich Sefchovich R, De La Cruz Montoya A, Martínez Gregorio H, Rojas Jiménez EA, Cortez Cardoso Penha R, Terrazas LI, Wegman-Ostrosky T, Levi-Lahad E, Zabaleta J, Perdomo S, Paniagua FV.
    • Front Genet. 2023 Jan 24;14:1094260. doi: 10.3389/fgene.2023.1094260.
    • Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
    • Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
    • Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.
    • Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
    • Debbabi I, Vacher S, Neuzillet C, Cros J, Revillon F, Petitalot A, Turpin A, Antonio S, Girard E, Dupain C, Kamal M, Hammel P, Bièche I, Masliah-Planchon J, Caputo SM.
    • Ther Adv Med Oncol. 2023 Jan 18;15:17588359221146132. doi: 10.1177/17588359221146132.
    • Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
    • Kim J, Jeong K, Jun H, Kim K, Bae JM, Song MG, Yi H, Park S, Woo GU, Lee DW, Kim TY, Lee KH, Im SA.
    • Hum Genomics. 2023 Jan 6;17(1):2. doi: 10.1186/s40246-022-00447-3.
    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.
    • Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
    • Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
    • Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.
    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
    • Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
    • Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
    • Shim Y, Lee J, Seo J, Park CK, Shin S, Han H, Lee ST, Choi JR, Chung BH, Choi YD.
    • Cancer Cell Int. 2022 Oct 8;22(1):306. doi: 10.1186/s12935-022-02728-2.
    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
    • Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
    • Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, Bao C, Bai Y, Zhao X, Yuan P.
    • Front Oncol. 2022 Sep 6;12:898916. doi: 10.3389/fonc.2022.898916.
    • BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
    • El Ansari FZ, Jouali F, Fekkak R, Bakkach J, Ghailani Nourouti N, Barakat A, Bennani Mechita M, Fekkak J.
    • Hered Cancer Clin Pract. 2022 Aug 19;20(1):29. doi: 10.1186/s13053-022-00236-y.
    • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
    • Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL.
    • J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
    • Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
    • Rweyemamu LP, Gültaslar BK, Akan G, Dharsee N, Namkinga LA, Lyantagaye SL, Yazici H, Atalar F.
    • Cancer Med. 2022 Jul 31. doi: 10.1002/cam4.5091. Epub ahead of print.
    • Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1.
    • Kim KB, Park S, Ha JS, Ryoo N, Kim DH.
    • Ann Lab Med. 2022 Jul 1;42(4):497-499. doi: 10.3343/alm.2022.42.4.497.
    • Durable Disease-free Survival in a Patient with Metastatic Triple-negative Breast Cancer Treated with Olaparib Monotherapy.
    • Wang X, Hu N, Cui L, Si Y, Yue J, Zheng F, Kang Y, Yuan P.
    • Curr Cancer Drug Targets. 2022 [Jul];22(6):530-536. doi: 10.2174/1568009622666220214092207.
    19. `
    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
    • Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K.
    • Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17.
    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
    • Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
    • Int J Oncol. 2022 May;60(5):58. doi: 10.3892/ijo.2022.5349. Epub 2022 Apr 6.
    • Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
    • Secondino A, Starnone F, Veneruso I, Di Tella MA, Conato S, De Angelis C, De Placido S, D'Argenio V.
    • Genes (Basel). 2022 Apr 13;13(4):682. doi: 10.3390/genes13040682.
    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
    • Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A.
    • Cancer Genet. 2022 Apr;262-263:118-133. doi: 10.1016/j.cancergen.2022.02.006. Epub 2022 Feb 16.
    • A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.
    • Majidzadeh-A K, Zarinfam S, Abdoli N, Yadegari F, Esmaeili R, Farahmand L, Teimourzadeh A, Taghizadeh M, Salehi M, Zamani M.
    • Fam Cancer. 2022 Apr;21(2):137-142. doi: 10.1007/s10689-021-00242-4. Epub 2021 Mar 23.
    • Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
    • Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E.
    • Cancers (Basel). 2022 Mar 23;14(7):1638. doi: 10.3390/cancers14071638.
    • Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.
    • Ajaz S, Zaidi SE, Ali S, Siddiqa A, Memon MA.
    • Front Genet. 2022 Mar 9;13:820610. doi: 10.3389/fgene.2022.820610.
    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.
    • Vargas E, de Deugd R, Villegas VE, Gil F, Mora L, Viaña LF, Bruges R, Gonzalez A, Galvis JC, Hamann U, Torres D.
    • Oncologist. 2022 Mar 4;27(2):e151-e157. doi: 10.1093/oncolo/oyab026.
    • Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
    • Lee JH, Ryoo NH, Ha JS, Park S, Kim KB, Hee KS, Kim DH.
    • Clin Lab. 2022 Feb 1;68(2). doi: 10.7754/Clin.Lab.2021.210609.
    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8.

    Related:

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

    A commentary on the discrepancy between blood and tumour BRCA testing: An open question.

    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Le TN, Tran VK, Nguyen TT, Vo NS, Hoang TH, Vo HL, Nguyen TT, Nguyen PD, Nguyen VT, Ta TV, Tran HT.
    • Genes (Basel). 2022 Jan 29;13(2):268. doi: 10.3390/genes13020268.
    • Rare germline copy number variants (CNVs) and breast cancer risk.
    • Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM; CTS Consortium, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, Easton DF.
    • Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6.
    • New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
    • Diop JPD, Sène ARG, Dia Y, Ba SA, Mbacke SS, Ly CAT, Sarr PD, Diouf D, Ka S, Mbengue B, Gueye SMK, Diop PS, Sylla Niang M, Gueye PM, Lopez Sall P, Dem A, Cisse A, Dieye A, Ndiaye R.
    • Front Oncol. 2022 Jan 13;11:810060. doi: 10.3389/fonc.2021.810060.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
    • Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S.
    • J Int Med Res. 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757.
    • Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    • Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C.
    • J Med Genet. 2022 Jan;59(1):75-78. doi: 10.1136/jmedgenet-2020-107366. Epub 2020 Nov 20.
    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Influence of germline BRCA genotype on the survival of patients with triple-negative breast cancer.
    • Villarreal-Garza C, Ferrigno AS, Aranda-Gutierrez A, Frankel PH, Ruel NH, Fonseca A, Narod S, Chavarri-Guerra Y, Sifuentes E, Magallanes-Hoyos MC, Herzog J, Castillo D, Alvarez-Gomez RM, Mohar-Betancourt A, Weitzel JN.
    • Cancer Res Commun. 2021 Dec;1(3):140-147. doi: 10.1158/2767-9764.crc-21-0099. Epub 2021 Dec 8.
    • CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
    • Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
    • J Med Genet. 2021 Dec;58(12):850-852. doi: 10.1136/jmedgenet-2020-107320. Epub 2020 Oct 15.
    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Related:

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Nov;258-259:10-17. doi: 10.1016/j.cancergen.2021.06.003. Epub 2021 Jun 18.
    • Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
    • Valtcheva N, Nguyen-Sträuli BD, Wagner U, Freiberger SN, Varga Z, Britschgi C, Dedes KJ, Rechsteiner MP.
    • Exp Mol Pathol. 2021 Oct 9:104705. doi: 10.1016/j.yexmp.2021.104705. Epub ahead of print.
    • BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
    • Pan JN, Lei L, Ye WW, Wang XJ, Cao WM.
    • J Breast Cancer. 2021 Oct;24(5):474-480. doi: 10.4048/jbc.2021.24.e39. Epub 2021 Sep 7.
    • Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
    • Ji G, Bao L, Yao Q, Zhang J, Zhu X, Bai Q, Shao Z, Yang W, Zhou X.
    • J Cancer Res Clin Oncol. 2021 Oct;147(10):2935-2944. doi: 10.1007/s00432-021-03696-2. Epub 2021 Jul 13.
    • Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
    • Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A.
    • Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714.
    • Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report.
    • Li W, Ma Z, Fu X, Hao Z, Shang H, Shi J, Lei M, Xu M, Ning S, Hua X.
    • Ann Transl Med. 2021 Sep;9(18):1487. doi: 10.21037/atm-21-3681.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    • Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
    • Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • A CLEARER VIEW ON OVARIAN CLEAR CELL CARCINOMA.
    • De Pauw A, Naert E, Van de Vijver K, Philippe T, Vandecasteele K, Denys H.
    • Acta Clin Belg. 2021 Aug 17:1-13. doi: 10.1080/17843286.2021.1964051. Epub ahead of print.
    • Review
    • Germline and Somatic mutations in postmenopausal breast cancer patients.
    • Nagy TR, Maistro S, Encinas G, Katayama MLH, Pereira GFL, Gaburo-Júnior N, Franco LAM, Gouvêa ACRC, Diz MDPE, Leite LAS, Folgueira MAAK.
    • Clinics (Sao Paulo). 2021 Jul 16;76:e2837. doi: 10.6061/clinics/2021/e2837.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
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    Press: More than 500 Structural Variants Linked to Hereditary Cancer and Cardiovascular Disorders Identified. (Clinical OMICs)

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    Press: Inherited Mutations in Postmenopausal Breast Cancer Patients Suggest Genetic Testing Is Warranted. (GenomeWeb)

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    • Breast Cancer Res Treat. 2017 May;163(1):139-150. doi: 10.1007/s10549-017-4142-7. Epub 2017 Feb 15.
    • Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
    • Zanella I, Merola F, Biasiotto G, Archetti S, Spinelli E, Di Lorenzo D.
    • Exp Mol Pathol. 2017 Apr;102(2):314-320. doi: 10.1016/j.yexmp.2017.03.001. Epub 2017 Mar 2.
    • Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.
    • Kim DH, Chae H, Jo I, Yoo J, Lee H, Jang W, Park J, Lee GD, Jeon DS, Lee KH, Hur SY, Chae BJ, Song BJ, Kim M, Kim Y.
    • BMC Med Genet. 2017 Mar 28;18(1):38. doi: 10.1186/s12881-017-0398-3.
    • Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry.
    • Walker LC, Pearson JF, Wiggins GA, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2017 Mar 16;19(1):30. doi: 10.1186/s13058-017-0825-6.
    • Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.
    • Apostolou P, Pertesi M, Aleporou-Marinou V, Dimitrakakis C, Papadimitriou C, Razis E, Christodoulou C, Fountzilas G, Yannoukakos D, Konstantopoulou I, Fostira F.
    • Clin Genet. 2017 Mar;91(3):482-487. doi: 10.1111/cge.12824. Epub 2016 Aug 22.
    • INDELseek: detection of complex insertions and deletions from next-generation sequencing data.
    • Au CH, Leung AY, Kwong A, Chan TL, Ma ES.
    • BMC Genomics. 2017 Jan 5;18(1):16. doi: 10.1186/s12864-016-3449-9.
    • Contribution of BRCA1 large genomic rearrangements to early-onset and familial breast/ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Amin A, Loya A, Hamann U.
    • Breast Cancer Res Treat. 2017 Jan;161(2):191-201. doi: 10.1007/s10549-016-4044-0. Epub 2016 Nov 8.
    • Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing.
    • Riahi A, Chabouni-Bouhamed H, Kharrat M.
    • Cancer Genet. 2017 Jan;210:22-27. doi: 10.1016/j.cancergen.2016.11.002. Epub 2016 Nov 18.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
    • Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N.
    • Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1.
    • Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
    • Sedghi M, Esfandiari E, Fazel-Najafabadi E, Salehi M, Salavaty A, Fattahpour S, Dehghani L, Nouri N, Mokarian F.
    • J Res Med Sci. 2016 Nov 2;21:95. doi: 10.4103/1735-1995.193167. eCollection 2016.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
    • Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
    • BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
    • Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.
    • BMC Med Genomics. 2016 Apr 11;9(1):19. doi: 10.1186/s12920-016-0178-5.
    • BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.
    • Ewald IP, Cossio SL, Palmero EI, Pinheiro M, Nascimento IL, Machado TM, Sandes KA, Toralles B, Garicochea B, Izetti P, Pereira ML, Bock H, Vargas FR, Moreira MÂ, Peixoto A, Teixeira MR, Ashton-Prolla P.
    • Genet Mol Biol. 2016 Apr-Jun;39(2):223-31. doi: 10.1590/1678-4685-GMB-2014-0350.
    • The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
    • Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG.
    • Hum Mutat. 2016 Mar;37(3):250-6. doi: 10.1002/humu.22938. Epub 2016 Jan 11.

    Related:

    "In This Issue"

    Microdeletions, Rearrangements, and Cancer Susceptibility.

    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.
    • Yassaee VR, Ravesh Z, Soltani Z, Hashemi-Gorji F, Poorhosseini SM, Anbiaee R, Joulaee A.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:149-53.
    • Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
    • Henouda S, Bensalem A, Reggad R, Serrar N, Rouabah L, Pujol P.
    • Dis Markers. 2016;2016:7869095. doi: 10.1155/2016/7869095. Epub 2016 Feb 22.
    • 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
    • Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements.
    • Dong Z, Dong H, Zhong X, Peng Z, Zhu X, Sun Y, Chen Y, Liu C, Yin X, Zhu G, Zheng H, Gu Y.
    • J Genet Genome Res 2(2):019. 2015 Sep 28.
    • The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer.
    • Kwong A, Chen J, Shin VY, Ho JC, Law FB, Au CH, Chan TL, Ma ES, Ford JM.
    • Cancer Genet. 2015 Sep;208(9):448-54. doi: 10.1016/j.cancergen.2015.05.031. Epub 2015 Jun 9.
    • upQMPSF, a Method for the Detection of BRCA1 Exon Copy Number Variants.
    • Azrak S.
    • Biochem Genet. 2015 Jun;53(4-6):141-57. doi: 10.1007/s10528-015-9681-1. Epub 2015 May 20.
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
    • James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
    • Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.
    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Identification of a recurrent BRCA1 exon 21-22 genomic rearrangement in Malay breast cancer patients.
    • Hasmad HN, Sivanandan K, Lee V, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2015 Apr;87(4):392-4. doi: 10.1111/cge.12451. Epub 2014 Jul 26.
    • Letter
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
    • Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB.
    • Hered Cancer Clin Pract. 2015 Jan 16;13(1):2. doi: 10.1186/s13053-014-0022-x. eCollection 2015.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.
    • Mancini-DiNardo D, Judkins T, Woolstenhulme N, Burton C, Schoenberger J, Ryder M, Murray A, Gutin N, Theisen A, Holladay J, Craft J, Arnell C, Moyes K, Roa B.
    • J Exp Clin Cancer Res. 2014 Sep 11;33:74. doi: 10.1186/s13046-014-0074-9.
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
    • Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.
    • First recurrent large genomic rearrangement in the BRCA1 gene found in Poland.
    • Rudnicka H, Masojc B, van de Wetering T, Debniak T, Cybulski C, Gronwald J, Scott R, Lubinski J, Gorski B.
    • Cancer Epidemiol. 2014 Aug;38(4):382-5. doi: 10.1016/j.canep.2014.05.010. Epub 2014 Jun 16.
    • Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.
    • Concolino P, Mello E, Minucci A, Santonocito C, Scambia G, Giardina B, Capoluongo E.
    • Clin Chem Lab Med. 2014 Aug;52(8):1119-27. doi: 10.1515/cclm-2013-1114.
    • Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
    • Tessereau C, Lesecque Y, Monnet N, Buisson M, Barjhoux L, Léoné M, Feng B, Goldgar DE, Sinilnikova OM, Mousset S, Duret L, Mazoyer S.
    • Nucleic Acids Res. 2014 Aug;42(14):9121-30. doi: 10.1093/nar/gku639. Epub 2014 Jul 17.
    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
    • Yeo ZX, Wong JC, Rozen SG, Lee AS.
    • BMC Genomics. 2014 Jun 24;15:516. doi: 10.1186/1471-2164-15-516.
    • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
    • Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL, Stadler ZK, Kauff ND, Offit K, Robson ME, Zhang L.
    • Breast Cancer Res Treat. 2014 Jun;145(3):625-34. doi: 10.1007/s10549-014-2987-6. Epub 2014 May 14.
    • Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.
    • Cho JY, Cho DY, Ahn SH, Choi SY, Shin I, Park HG, Lee JW, Kim HJ, Yu JH, Ko BS, Ku BK, Son BH.
    • Fam Cancer. 2014 Jun;13(2):205-11. doi: 10.1007/s10689-014-9704-9.
    • 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.
    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
    • Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.
    • Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.
    • BRCA sequencing and large rearrangement testing in young Black women with breast cancer.
    • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S.
    • J Community Genet. 2014 Apr;5(2):157-65. doi: 10.1007/s12687-013-0166-9. Epub 2013 Aug 29.
    • Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.
    • Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A.
    • PLoS One. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014.
    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B.
    • Mol Biol Rep. 2013 Dec;40(12):6619-23. doi: 10.1007/s11033-013-2775-0. Epub 2013 Sep 25.
    • A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
    • Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.
    • Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6.
    • Case report, Letter
    • Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
    • Mahon SM.
    • Oncol Nurs Forum. 2013 May 1;40(3):220-2. doi: 10.1188/13.ONF.220-222.

    Related:

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

    • Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification.
    • Yassaee VR, Emamalizadeh B, Omrani MD.
    • J Genet. 2013 Apr;92(1):131-4.
    • Functional analysis-Make or break for cancer predictability.
    • Deniz M, Holzmann K, Wiesmüller L.
    • Mutat Res. 2013 Mar-Apr;743-744:132-41. doi: 10.1016/j.mrfmmm.2013.03.009. Epub 2013 Mar 28.
    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
    • Hagag E, Shwaireb M, Coffa J, El Wakil A.
    • East Mediterr Health J. 2013 Mar;19(3):255-62.
    • The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.
    • Palanca S, de Juan I, Perez-Simó G, Barragán E, Chirivella I, Martínez E, Fuster O, Bolufer P.
    • Fam Cancer. 2013 Mar;12(1):119-23. doi: 10.1007/s10689-012-9579-6.
    • Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.
    • Peixoto A, Pinheiro M, Massena L, Santos C, Pinto P, Rocha P, Pinto C, Teixeira MR.
    • J Hum Genet. 2013 Feb;58(2):78-83. doi: 10.1038/jhg.2012.137. Epub 2012 Dec 6.
    • Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network.
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP.
    • J Clin Oncol. 2013 Jan 10;31(2):210-6. doi: 10.1200/JCO.2011.41.0027. Epub 2012 Dec 10.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.
    • Kwong A, Ng EK, Law FB, Wong HN, Wa A, Wong CL, Kurian AW, West DW, Ford JM, Ma ES.
    • Breast Cancer Res Treat. 2012 Dec;136(3):931-3. doi: 10.1007/s10549-012-2292-1. Epub 2012 Oct 26.
    • 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.
    • Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
    • Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group, Haffty BG.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.
    • BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.
    • Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G.
    • J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18.

    Related:

    Press: Routine BRCA Mutation Testing Urged in Ovarian Cancer. (Medscape/Reuters Health)

    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
    • Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC.
    • BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • 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.
    • Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.
    • Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.
    • Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.
    • A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
    • Cheeseman K, Rouleau E, Vannier A, Thomas A, Briaux A, Lefol C, Walrafen P, Bensimon A, Lidereau R, Conseiller E, Ceppi M.
    • Hum Mutat. 2012 Jun;33(6):998-1009. doi: 10.1002/humu.22060. Epub 2012 Apr 4.

    Related:

    Press: Genetic Susceptibility to Breast Cancer: a New, More Accurate Diagnostic Test for Mutation Screening. (PR Newswire)

    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.
    • Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M.
    • Breast Cancer Res Treat. 2012 May;133(1):273-83. doi: 10.1007/s10549-011-1909-0. Epub 2012 Mar 21.
    • Review
    • [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]

List was last updated on Feb 19, 2023 @ 12:35 am.


    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.
    • Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
    • Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
    • Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.
    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
    • Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B.
    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
    • Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
    • Shim Y, Lee J, Seo J, Park CK, Shin S, Han H, Lee ST, Choi JR, Chung BH, Choi YD.
    • Cancer Cell Int. 2022 Oct 8;22(1):306. doi: 10.1186/s12935-022-02728-2.
    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
    • Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
    • Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, Bao C, Bai Y, Zhao X, Yuan P.
    • Front Oncol. 2022 Sep 6;12:898916. doi: 10.3389/fonc.2022.898916.
    • BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
    • El Ansari FZ, Jouali F, Fekkak R, Bakkach J, Ghailani Nourouti N, Barakat A, Bennani Mechita M, Fekkak J.
    • Hered Cancer Clin Pract. 2022 Aug 19;20(1):29. doi: 10.1186/s13053-022-00236-y.
    • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
    • Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL.
    • J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
    • Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
    • Rweyemamu LP, Gültaslar BK, Akan G, Dharsee N, Namkinga LA, Lyantagaye SL, Yazici H, Atalar F.
    • Cancer Med. 2022 Jul 31. doi: 10.1002/cam4.5091. Epub ahead of print.
    • Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1.
    • Kim KB, Park S, Ha JS, Ryoo N, Kim DH.
    • Ann Lab Med. 2022 Jul 1;42(4):497-499. doi: 10.3343/alm.2022.42.4.497.
    • Durable Disease-free Survival in a Patient with Metastatic Triple-negative Breast Cancer Treated with Olaparib Monotherapy.
    • Wang X, Hu N, Cui L, Si Y, Yue J, Zheng F, Kang Y, Yuan P.
    • Curr Cancer Drug Targets. 2022 [Jul];22(6):530-536. doi: 10.2174/1568009622666220214092207.
    14. `
    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
    • Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K.
    • Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17.
    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
    • Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
    • Int J Oncol. 2022 May;60(5):58. doi: 10.3892/ijo.2022.5349. Epub 2022 Apr 6.
    • Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
    • Secondino A, Starnone F, Veneruso I, Di Tella MA, Conato S, De Angelis C, De Placido S, D'Argenio V.
    • Genes (Basel). 2022 Apr 13;13(4):682. doi: 10.3390/genes13040682.
    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
    • Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A.
    • Cancer Genet. 2022 Apr;262-263:118-133. doi: 10.1016/j.cancergen.2022.02.006. Epub 2022 Feb 16.
    • A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.
    • Majidzadeh-A K, Zarinfam S, Abdoli N, Yadegari F, Esmaeili R, Farahmand L, Teimourzadeh A, Taghizadeh M, Salehi M, Zamani M.
    • Fam Cancer. 2022 Apr;21(2):137-142. doi: 10.1007/s10689-021-00242-4. Epub 2021 Mar 23.
    • Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
    • Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E.
    • Cancers (Basel). 2022 Mar 23;14(7):1638. doi: 10.3390/cancers14071638.
    • Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.
    • Ajaz S, Zaidi SE, Ali S, Siddiqa A, Memon MA.
    • Front Genet. 2022 Mar 9;13:820610. doi: 10.3389/fgene.2022.820610.
    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.
    • Vargas E, de Deugd R, Villegas VE, Gil F, Mora L, Viaña LF, Bruges R, Gonzalez A, Galvis JC, Hamann U, Torres D.
    • Oncologist. 2022 Mar 4;27(2):e151-e157. doi: 10.1093/oncolo/oyab026.
    • Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
    • Lee JH, Ryoo NH, Ha JS, Park S, Kim KB, Hee KS, Kim DH.
    • Clin Lab. 2022 Feb 1;68(2). doi: 10.7754/Clin.Lab.2021.210609.
    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8.

    Related:

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

    A commentary on the discrepancy between blood and tumour BRCA testing: An open question.

    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Le TN, Tran VK, Nguyen TT, Vo NS, Hoang TH, Vo HL, Nguyen TT, Nguyen PD, Nguyen VT, Ta TV, Tran HT.
    • Genes (Basel). 2022 Jan 29;13(2):268. doi: 10.3390/genes13020268.
    • Rare germline copy number variants (CNVs) and breast cancer risk.
    • Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM; CTS Consortium, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, Easton DF.
    • Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6.
    • New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
    • Diop JPD, Sène ARG, Dia Y, Ba SA, Mbacke SS, Ly CAT, Sarr PD, Diouf D, Ka S, Mbengue B, Gueye SMK, Diop PS, Sylla Niang M, Gueye PM, Lopez Sall P, Dem A, Cisse A, Dieye A, Ndiaye R.
    • Front Oncol. 2022 Jan 13;11:810060. doi: 10.3389/fonc.2021.810060.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
    • Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S.
    • J Int Med Res. 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757.
    • Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    • Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C.
    • J Med Genet. 2022 Jan;59(1):75-78. doi: 10.1136/jmedgenet-2020-107366. Epub 2020 Nov 20.
    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Influence of germline BRCA genotype on the survival of patients with triple-negative breast cancer.
    • Villarreal-Garza C, Ferrigno AS, Aranda-Gutierrez A, Frankel PH, Ruel NH, Fonseca A, Narod S, Chavarri-Guerra Y, Sifuentes E, Magallanes-Hoyos MC, Herzog J, Castillo D, Alvarez-Gomez RM, Mohar-Betancourt A, Weitzel JN.
    • Cancer Res Commun. 2021 Dec;1(3):140-147. doi: 10.1158/2767-9764.crc-21-0099. Epub 2021 Dec 8.
    • CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
    • Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC.
    • J Med Genet. 2021 Dec;58(12):850-852. doi: 10.1136/jmedgenet-2020-107320. Epub 2020 Oct 15.
    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Related:

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Nov;258-259:10-17. doi: 10.1016/j.cancergen.2021.06.003. Epub 2021 Jun 18.
    • Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
    • Valtcheva N, Nguyen-Sträuli BD, Wagner U, Freiberger SN, Varga Z, Britschgi C, Dedes KJ, Rechsteiner MP.
    • Exp Mol Pathol. 2021 Oct 9:104705. doi: 10.1016/j.yexmp.2021.104705. Epub ahead of print.
    • BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
    • Pan JN, Lei L, Ye WW, Wang XJ, Cao WM.
    • J Breast Cancer. 2021 Oct;24(5):474-480. doi: 10.4048/jbc.2021.24.e39. Epub 2021 Sep 7.
    • Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
    • Ji G, Bao L, Yao Q, Zhang J, Zhu X, Bai Q, Shao Z, Yang W, Zhou X.
    • J Cancer Res Clin Oncol. 2021 Oct;147(10):2935-2944. doi: 10.1007/s00432-021-03696-2. Epub 2021 Jul 13.
    • Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
    • Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A.
    • Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714.
    • Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report.
    • Li W, Ma Z, Fu X, Hao Z, Shang H, Shi J, Lei M, Xu M, Ning S, Hua X.
    • Ann Transl Med. 2021 Sep;9(18):1487. doi: 10.21037/atm-21-3681.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    • Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
    • Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • A CLEARER VIEW ON OVARIAN CLEAR CELL CARCINOMA.
    • De Pauw A, Naert E, Van de Vijver K, Philippe T, Vandecasteele K, Denys H.
    • Acta Clin Belg. 2021 Aug 17:1-13. doi: 10.1080/17843286.2021.1964051. Epub ahead of print.
    • Review
    • Germline and Somatic mutations in postmenopausal breast cancer patients.
    • Nagy TR, Maistro S, Encinas G, Katayama MLH, Pereira GFL, Gaburo-Júnior N, Franco LAM, Gouvêa ACRC, Diz MDPE, Leite LAS, Folgueira MAAK.
    • Clinics (Sao Paulo). 2021 Jul 16;76:e2837. doi: 10.6061/clinics/2021/e2837.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.
    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.
    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.
    • Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
    • Poon KS, Chiu L, Tan KM.
    • Glob Med Genet. 2021 Jun;8(2):62-68. doi: 10.1055/s-0041-1726338. Epub 2021 Mar 16.
    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
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    Press: More than 500 Structural Variants Linked to Hereditary Cancer and Cardiovascular Disorders Identified. (Clinical OMICs)

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    Press: Inherited Mutations in Postmenopausal Breast Cancer Patients Suggest Genetic Testing Is Warranted. (GenomeWeb)

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    • Rashid MU, Muhammad N, Amin A, Loya A, Hamann U.
    • Breast Cancer Res Treat. 2017 Jan;161(2):191-201. doi: 10.1007/s10549-016-4044-0. Epub 2016 Nov 8.
    • Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing.
    • Riahi A, Chabouni-Bouhamed H, Kharrat M.
    • Cancer Genet. 2017 Jan;210:22-27. doi: 10.1016/j.cancergen.2016.11.002. Epub 2016 Nov 18.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
    • Fowler A, Mahamdallie S, Ruark E, Seal S, Ramsay E, Clarke M, Uddin I, Wylie H, Strydom A, Lunter G, Rahman N.
    • Wellcome Open Res. 2016 Nov 25;1:20. doi: 10.12688/wellcomeopenres.10069.1.
    • Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families.
    • Sedghi M, Esfandiari E, Fazel-Najafabadi E, Salehi M, Salavaty A, Fattahpour S, Dehghani L, Nouri N, Mokarian F.
    • J Res Med Sci. 2016 Nov 2;21:95. doi: 10.4103/1735-1995.193167. eCollection 2016.
    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
    • Hackmann K, Kuhlee F, Betcheva-Krajcir E, Kahlert AK, Mackenroth L, Klink B, Di Donato N, Tzschach A, Kast K, Wimberger P, Schrock E, Rump A.
    • Breast Cancer Res Treat. 2016 Oct;159(3):585-90. doi: 10.1007/s10549-016-3956-z. Epub 2016 Aug 31.
    • High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
    • Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
    • BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
    • Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.
    • BMC Med Genomics. 2016 Apr 11;9(1):19. doi: 10.1186/s12920-016-0178-5.
    • BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.
    • Ewald IP, Cossio SL, Palmero EI, Pinheiro M, Nascimento IL, Machado TM, Sandes KA, Toralles B, Garicochea B, Izetti P, Pereira ML, Bock H, Vargas FR, Moreira MÂ, Peixoto A, Teixeira MR, Ashton-Prolla P.
    • Genet Mol Biol. 2016 Apr-Jun;39(2):223-31. doi: 10.1590/1678-4685-GMB-2014-0350.
    • The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
    • Smith MJ, Urquhart JE, Harkness EF, Miles EK, Bowers NL, Byers HJ, Bulman M, Gokhale C, Wallace AJ, Newman WG, Evans DG.
    • Hum Mutat. 2016 Mar;37(3):250-6. doi: 10.1002/humu.22938. Epub 2016 Jan 11.

    Related:

    "In This Issue"

    Microdeletions, Rearrangements, and Cancer Susceptibility.

    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.
    • Yassaee VR, Ravesh Z, Soltani Z, Hashemi-Gorji F, Poorhosseini SM, Anbiaee R, Joulaee A.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:149-53.
    • Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
    • Henouda S, Bensalem A, Reggad R, Serrar N, Rouabah L, Pujol P.
    • Dis Markers. 2016;2016:7869095. doi: 10.1155/2016/7869095. Epub 2016 Feb 22.
    • 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
    • Development of a Comprehensive NGS Workflow for the Analysis of Tumor BRCA1 and BRCA2 Mutations and Large Rearrangements.
    • Dong Z, Dong H, Zhong X, Peng Z, Zhu X, Sun Y, Chen Y, Liu C, Yin X, Zhu G, Zheng H, Gu Y.
    • J Genet Genome Res 2(2):019. 2015 Sep 28.
    • The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer.
    • Kwong A, Chen J, Shin VY, Ho JC, Law FB, Au CH, Chan TL, Ma ES, Ford JM.
    • Cancer Genet. 2015 Sep;208(9):448-54. doi: 10.1016/j.cancergen.2015.05.031. Epub 2015 Jun 9.
    • upQMPSF, a Method for the Detection of BRCA1 Exon Copy Number Variants.
    • Azrak S.
    • Biochem Genet. 2015 Jun;53(4-6):141-57. doi: 10.1007/s10528-015-9681-1. Epub 2015 May 20.
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
    • James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
    • Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.
    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Identification of a recurrent BRCA1 exon 21-22 genomic rearrangement in Malay breast cancer patients.
    • Hasmad HN, Sivanandan K, Lee V, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2015 Apr;87(4):392-4. doi: 10.1111/cge.12451. Epub 2014 Jul 26.
    • Letter
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • Identification of a new BRCA2 large genomic deletion associated with high risk male breast cancer.
    • Timoteo AR, Albuquerque BM, Moura PC, Ramos CC, Agnez-Lima LF, Walsh T, King MC, Lajus TB.
    • Hered Cancer Clin Pract. 2015 Jan 16;13(1):2. doi: 10.1186/s13053-014-0022-x. eCollection 2015.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.
    • Mancini-DiNardo D, Judkins T, Woolstenhulme N, Burton C, Schoenberger J, Ryder M, Murray A, Gutin N, Theisen A, Holladay J, Craft J, Arnell C, Moyes K, Roa B.
    • J Exp Clin Cancer Res. 2014 Sep 11;33:74. doi: 10.1186/s13046-014-0074-9.
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
    • Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.
    • First recurrent large genomic rearrangement in the BRCA1 gene found in Poland.
    • Rudnicka H, Masojc B, van de Wetering T, Debniak T, Cybulski C, Gronwald J, Scott R, Lubinski J, Gorski B.
    • Cancer Epidemiol. 2014 Aug;38(4):382-5. doi: 10.1016/j.canep.2014.05.010. Epub 2014 Jun 16.
    • Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.
    • Concolino P, Mello E, Minucci A, Santonocito C, Scambia G, Giardina B, Capoluongo E.
    • Clin Chem Lab Med. 2014 Aug;52(8):1119-27. doi: 10.1515/cclm-2013-1114.
    • Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing.
    • Tessereau C, Lesecque Y, Monnet N, Buisson M, Barjhoux L, Léoné M, Feng B, Goldgar DE, Sinilnikova OM, Mousset S, Duret L, Mazoyer S.
    • Nucleic Acids Res. 2014 Aug;42(14):9121-30. doi: 10.1093/nar/gku639. Epub 2014 Jul 17.
    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes.
    • Yeo ZX, Wong JC, Rozen SG, Lee AS.
    • BMC Genomics. 2014 Jun 24;15:516. doi: 10.1186/1471-2164-15-516.
    • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
    • Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL, Stadler ZK, Kauff ND, Offit K, Robson ME, Zhang L.
    • Breast Cancer Res Treat. 2014 Jun;145(3):625-34. doi: 10.1007/s10549-014-2987-6. Epub 2014 May 14.
    • Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea.
    • Cho JY, Cho DY, Ahn SH, Choi SY, Shin I, Park HG, Lee JW, Kim HJ, Yu JH, Ko BS, Ku BK, Son BH.
    • Fam Cancer. 2014 Jun;13(2):205-11. doi: 10.1007/s10689-014-9704-9.
    • 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.
    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
    • Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.
    • Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.
    • BRCA sequencing and large rearrangement testing in young Black women with breast cancer.
    • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S.
    • J Community Genet. 2014 Apr;5(2):157-65. doi: 10.1007/s12687-013-0166-9. Epub 2013 Aug 29.
    • Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.
    • Fachal L, Blanco A, Santamariña M, Carracedo A, Vega A.
    • PLoS One. 2014 Mar 31;9(3):e93306. doi: 10.1371/journal.pone.0093306. eCollection 2014.
    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families.
    • Rudnicka H, Debniak T, Cybulski C, Huzarski T, Gronwald J, Lubinski J, Gorski B.
    • Mol Biol Rep. 2013 Dec;40(12):6619-23. doi: 10.1007/s11033-013-2775-0. Epub 2013 Sep 25.
    • A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
    • Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.
    • Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6.
    • Case report, Letter
    • Large Genomic Rearrangements in BRCA1 and BRCA2: Implications for Patient Care.
    • Mahon SM.
    • Oncol Nurs Forum. 2013 May 1;40(3):220-2. doi: 10.1188/13.ONF.220-222.

    Related:

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

    • Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification.
    • Yassaee VR, Emamalizadeh B, Omrani MD.
    • J Genet. 2013 Apr;92(1):131-4.
    • Functional analysis-Make or break for cancer predictability.
    • Deniz M, Holzmann K, Wiesmüller L.
    • Mutat Res. 2013 Mar-Apr;743-744:132-41. doi: 10.1016/j.mrfmmm.2013.03.009. Epub 2013 Mar 28.
    • Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
    • Hagag E, Shwaireb M, Coffa J, El Wakil A.
    • East Mediterr Health J. 2013 Mar;19(3):255-62.
    • The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.
    • Palanca S, de Juan I, Perez-Simó G, Barragán E, Chirivella I, Martínez E, Fuster O, Bolufer P.
    • Fam Cancer. 2013 Mar;12(1):119-23. doi: 10.1007/s10689-012-9579-6.
    • Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.
    • Peixoto A, Pinheiro M, Massena L, Santos C, Pinto P, Rocha P, Pinto C, Teixeira MR.
    • J Hum Genet. 2013 Feb;58(2):78-83. doi: 10.1038/jhg.2012.137. Epub 2012 Dec 6.
    • Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network.
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP.
    • J Clin Oncol. 2013 Jan 10;31(2):210-6. doi: 10.1200/JCO.2011.41.0027. Epub 2012 Dec 10.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Novel BRCA1 and BRCA2 genomic rearrangements in Southern Chinese breast/ovarian cancer patients.
    • Kwong A, Ng EK, Law FB, Wong HN, Wa A, Wong CL, Kurian AW, West DW, Ford JM, Ma ES.
    • Breast Cancer Res Treat. 2012 Dec;136(3):931-3. doi: 10.1007/s10549-012-2292-1. Epub 2012 Oct 26.
    • 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.
    • Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
    • Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group, Haffty BG.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.
    • BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.
    • Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G.
    • J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18.

    Related:

    Press: Routine BRCA Mutation Testing Urged in Ovarian Cancer. (Medscape/Reuters Health)

    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
    • Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC.
    • BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • 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.
    • Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.
    • Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.
    • Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.
    • A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2.
    • Cheeseman K, Rouleau E, Vannier A, Thomas A, Briaux A, Lefol C, Walrafen P, Bensimon A, Lidereau R, Conseiller E, Ceppi M.
    • Hum Mutat. 2012 Jun;33(6):998-1009. doi: 10.1002/humu.22060. Epub 2012 Apr 4.

    Related:

    Press: Genetic Susceptibility to Breast Cancer: a New, More Accurate Diagnostic Test for Mutation Screening. (PR Newswire)

    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.
    • Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M.
    • Breast Cancer Res Treat. 2012 May;133(1):273-83. doi: 10.1007/s10549-011-1909-0. Epub 2012 Mar 21.
    • Review
    • [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]