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- 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.
- PMID: 36797466
- PubMed abstract
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- 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.
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- 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.
- PMID: 36755949
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- 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.
- PMID: 36700131
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- 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.
- PMID: 36604691
- PubMed abstract
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- 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.
- PMID: 36505034
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- 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.
- PMID: 36537080
- PubMed abstract
- Source abstract
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- 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.
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- 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.
- PMID: 36331686
- PubMed abstract
- Source abstract
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- 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.
- PMID: 36210504
- PubMed abstract
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- 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.
- PMID: 36209207
- PubMed abstract
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- 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.
- PMID: 36203093
- PubMed abstract
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- 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.
- PMID: 36147908
- PubMed abstract
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- 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.
- PMID: 35986351
- PubMed abstract
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- 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.
- PMID: 35393334
- PubMed abstract
- Review
- Free Full Text
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- 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.
- PMID: 35908255
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35177575
- PubMed abstract
- Source abstract
- Case report
- Free Full Text (PDF)
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- 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.
- PMID: 35156571
- PubMed abstract
- Source abstract
- Case report
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- 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.
- PMID: 33999380
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35383859
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35456488
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35220195
- PubMed abstract
- Source abstract
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- 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.
- PMID: 33754277
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35406410
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35356428
- PubMed abstract
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- 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.
- PMID: 35641219
- PubMed abstract
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- 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.
- PMID: 35142179
- PubMed abstract
- Source abstract
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- 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.
- PMID: 34657373
- PubMed abstract
- Source abstract
Commentary:
Gene sequencing in ovarian cancer: continually moving targets.
- PMID: 34665910
- PubMed abstract
- Free Full Text
Commentary:
A commentary on the discrepancy between blood and tumour BRCA testing: An open question.
- PMID: 35319826
- PubMed abstract
- Free Full Text
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- 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.
- PMID: 35205313
- PubMed abstract
- Source abstract
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- 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.
- PMID: 35042965
- PubMed abstract
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- 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.
- PMID: 35096615
- PubMed abstract
- Review
- Free PMC article
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- 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.
- PMID: 34755241
- PubMed abstract
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- 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.
- PMID: 35000471
- PubMed abstract
- Source abstract
- Review
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- 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.
- PMID: 33219106
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- 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.
- PMID: 35020290
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- 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.
- PMID: 35875314
- PubMed abstract
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- 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.
- PMID: 33060287
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- Case report
- Free PMC article
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- 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.
- PMID: 34218100
- PubMed abstract
- Source abstract
Dataset description:
A South African Indian population group dataset for breast cancer and BRCA1/2 variants.
- PMID: 35496481
- PubMed abstract
- Free Full Text
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- 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.
- PMID: 34237702
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- 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.
- PMID: 34637782
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- 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.
- PMID: 34652076
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- Case report
- Free PMC article
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- 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.
- PMID: 34254208
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- 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.
- PMID: 34572941
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- 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.
- PMID: 34734039
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- 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.
- PMID: 34503154
- PubMed abstract
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- Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
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- 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.
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- BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
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- New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
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- A catalog of curated breast cancer genes.
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- Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
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- CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
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- Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
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- BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
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- Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
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- BRCA1 Reversion Mutation Confers Resistance to Olaparib and Camrelizumab in a Patient with Breast Cancer Liver Metastasis.
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- Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
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- Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
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- Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report.
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- Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
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- Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
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- Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
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- Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
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- Germline and Somatic mutations in postmenopausal breast cancer patients.
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- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
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- Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
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- 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.
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- A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
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- Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing.
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- Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
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