• Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.
    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.
    • Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
    • Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
    • J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.
    • Challenges in periodic revision of genetic testing results: comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 Variants of Uncertain Significance.
    • Finger Andreis T, Isabel Weber de Souza K, Araujo Vieira I, Alemar B, Sinigaglia M, Marinho de Araújo Rocha Y, Artigalás O, Bittar C, Brinckmann Oliveira Netto C, Ashton-Prolla P, Rosset C.
    • Gene. 2023 Feb 10:147281. doi: 10.1016/j.gene.2023.147281. Epub ahead of print.
    • Evaluation of AlphaFold Structure-based Protein Stability Prediction on Missense Variations in Cancer.
    • Karakoyun HK, Yuksel SK, Amanoglu I, Naserikhojasteh L, Yakicier C, Yesilyurt A, Timucin E, Akyerli CB.
    • Front Genet. 2023 Feb 8;14:1052383. doi: 10.3389/fgene.2023.1052383.
    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.
    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.
    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. 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.
    • Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.
    • Wei B, Gu J, Gao B, Bao Y, Duan R, Li Q, Xie F.
    • Br J Dermatol. 2023 Jan 23;188(1):64-74. doi: 10.1093/bjd/ljac020.
    • Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
    • Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN.
    • Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277.
    • Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
    • Kumpula TA, Koivuluoma S, Soikkonen L, Vorimo S, Moilanen J, Winqvist R, Mantere T, Kuismin O, Pylkäs K.
    • Fam Cancer. 2023 Jan 19. doi: 10.1007/s10689-023-00327-2. Epub ahead of print.
    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
    • Hovland HN, Kabanyana Mchaina E, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
    • Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.
    • 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.
    • Estimating clinical risk in gene regions from population sequencing cohort data.
    • Fife JD, Cassa CA.
    • medRxiv [Preprint]. 2023 Jan 9:2023.01.06.23284281. doi: 10.1101/2023.01.06.23284281.
    • A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
    • Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
    • J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.
    • Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
    • Caliskan S, Akar OS, Gun S, Kefeli M.
    • Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.
    • Gene of the month: PALB2.
    • Hamdan O, Nowak KM.
    • J Clin Pathol. 2022 Dec 7:jcp-2022-208461. doi: 10.1136/jcp-2022-208461. Epub ahead of print.
    • Review
    • Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
    • Vigneshwaran G, Hasan QA, Kumar R, Eranki A.
    • Front Genet. 2022 Dec 6;13:1071352. doi: 10.3389/fgene.2022.1071352.
    • Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant.
    • Bang YJ, Kwon WK, Kim JW, Lee JE, Jung BY, Kim M, Kim J, An J, Jung SP, Kim HK, Kim Z, Youn HJ, Ryu JM, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Ann Surg Treat Res. 2022 Dec;103(6):323-330. doi: 10.4174/astr.2022.103.6.323. Epub 2022 Dec 8.
    • Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
    • Dong Z, Wang Y, Zhang J, Zhu F, Liu Z, Kang Y, Lin M, Shi H.
    • J Hum Genet. 2022 Nov 29. doi: 10.1038/s10038-022-01077-2. Epub ahead of print.
    • In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
    • Barua SA, Goswami N, Mishra N, Sawant UU, Varma AK.
    • ACS Omega. 2022 Nov 28;7(49):44772-44785. doi: 10.1021/acsomega.2c04782.
    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
    • In silico and structure-based assessment to classify VUS identified in the a-helical domain of BRCA2.
    • Khan MA, Varma AK.
    • J Biomol Struct Dyn. 2022 Nov 20:1-11. doi: 10.1080/07391102.2022.2148127. Epub ahead of print.
    • Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
    • Budurlean L, Baker M, Broach J.
    • BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.
    • Case report
    • Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
    • Andrikopoulou A, Zografos E, Apostolidou K, Kyriazoglou T, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Liontos M, Dimopoulos M, Zagouri F.
    • Front Oncol. 2022 Oct 31;12:1030786. doi: 10.3389/fonc.2022.1030786.
    • DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.
    • McCarthy-Leo C, Darwiche F, Tainsky MA.
    • Cancers (Basel). 2022 Oct 27;14(21):5278. doi: 10.3390/cancers14215278.
    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Related:

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
    • Terashima T, Morizane C, Ushiama M, Shiba S, Takahashi H, Ikeda M, Mizuno N, Tsuji K, Yasui K, Azemoto N, Satake H, Nomura S, Yachida S, Sugano K, Furuse J.
    • Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
    • Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.
    • Soussi T.
    • Cancer Res. 2022 Oct 4;82(19):3420-3431. doi: 10.1158/0008-5472.CAN-22-0172.
    • Review
    • Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.
    • Khandakji MN, Mifsud B.
    • Front Genet. 2022 Sep 30;13:982930. doi: 10.3389/fgene.2022.982930.
    • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
    • Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES Jr, Couch FJ, Monteiro ANA, Carvalho MA.
    • Sci Rep. 2022 Sep 28;12(1):16203. doi: 10.1038/s41598-022-20500-4.
    • Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
    • Prakash R, Rawal Y, Sullivan MR, Grundy MK, Bret H, Mihalevic MJ, Rein HL, Baird JM, Darrah K, Zhang F, Wang R, Traina TA, Radke MR, Kaufmann SH, Swisher EM, Guérois R, Modesti M, Sung P, Jasin M, Bernstein KA.
    • Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
    • Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
    • Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA.
    • Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541.
    • Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
    • Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU.
    • HPB (Oxford). 2022 Sep 15:S1365-182X(22)01593-3. doi: 10.1016/j.hpb.2022.09.003. Epub ahead of print.
    • BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair.
    • Jimenez-Sainz J, Mathew J, Moore G, Lahiri S, Garbarino J, Eder JP, Rothenberg E, Jensen RB.
    • Elife. 2022 Sep 13;11:e79183. doi: 10.7554/eLife.79183.
    • Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
    • Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ.
    • Clin Cancer Res. 2022 Sep 1;28(17):3742-3751. doi: 10.1158/1078-0432.CCR-22-0203.
    • Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
    • Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.
    • J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15.
    • CHEK2 variants: linking functional impact to cancer risk.
    • Boonen RACM, Vreeswijk MPG, van Attikum H.
    • Trends Cancer. 2022 Sep;8(9):759-770. doi: 10.1016/j.trecan.2022.04.009. Epub 2022 May 25.
    • Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.
    • Shinde SD, Satpute DP, Behera SK, Kumar D.
    • ACS Omega. 2022 Aug 17 [eCollection 2022 Aug 30];7(34):30447-30461. doi: 10.1021/acsomega.2c03851.
    • Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
    • Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Machácková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, Consortium E, Vreeswijk MPG, de la Hoya M, Spurdle AB.
    • Hum Mutat. 2022 Aug 18. doi: 10.1002/humu.24449. Epub ahead of print.
    • Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.
    • Wu S, Qi L, Chen H, Zhang K, He J, Guo X, Shen L, Zhou Y, Zhong X, Zheng S, Zhou J, Chen Y.
    • NPJ Breast Cancer. 2022 Jul 19;8(1):86. doi: 10.1038/s41523-022-00454-6.
    • Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
    • Rashid MU, Muhammad N, Shehzad U, Khan FA, Loya A, Hamann U.
    • Fam Cancer. 2022 Jul 8. doi: 10.1007/s10689-022-00304-1. Epub ahead of print.
    • Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
    • Dragoš VŠ, Strojnik K, Klancar G, Škerl P, Stegel V, Blatnik A, Banjac M, Krajc M, Novakovic S.
    • Int J Mol Sci. 2022 Jul 4;23(13):7446. doi: 10.3390/ijms23137446.
    • Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria.
    • James PA, Fortuno C, Li N, Lim BWX, Campbell IG, Spurdle AB.
    • Hum Mutat. 2022 Jul;43(7):882-888. doi: 10.1002/humu.24357. Epub 2022 Mar 3.
    • Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
    • Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M.
    • Diagnostics (Basel). 2022 Jun 22;12(7):1520. doi: 10.3390/diagnostics12071520.
    • Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
    • Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA.
    • Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.
    • Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.
    • Gervas P, Molokov A, Babyshkina N, Kiselev A, Zarubin A, Yumov E, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Asian Pac J Cancer Prev. 2022 Jun 1;23(6):2027-2033. doi: 10.31557/APJCP.2022.23.6.2027.
    • Evaluation of conformational transitions of h-BRCA2 functional domain and unclassified variant Arg2502Cys using multimodal approach.
    • Khan MA, Siddiqui MQ, Kuligina E, Varma AK.
    • Int J Biol Macromol. 2022 Jun 1;209(Pt A):716-724. doi: 10.1016/j.ijbiomac.2022.04.049. Epub 2022 Apr 9.
    • Functional analysis of ATM variants in a high risk cohort provides insight into missing heritability.
    • Baughan SL, Darwiche F, Tainsky MA.
    • Cancer Genet. 2022 Jun;264-265:40-49. doi: 10.1016/j.cancergen.2022.03.003. Epub 2022 Mar 20.
    • The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus.
    • Jimenez-Sainz J, Krysztofiak A, Garbarino J, Rogers F, Jensen RB.
    • Front Genet. 2022 May 30;13:884210. doi: 10.3389/fgene.2022.884210.
    • Identification of deleterious variants of uncertain significance in BRCA2 BRC4 repeat through molecular dynamics simulations.
    • Sinha S, Qin Z, Tam B, Wang SM.
    • Brief Funct Genomics. 2022 May 21;21(3):202-215. doi: 10.1093/bfgp/elac003.
    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
    • Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2.
    • Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
    • Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators, Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF.
    • Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8.
    • Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer.
    • Lee JD, Ryu WJ, Han HJ, Kim TY, Kim MH, Sohn J.
    • Cancers (Basel). 2022 May 13;14(10):2405. doi: 10.3390/cancers14102405.
    • 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.
    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
    • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN.
    • Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251.
    • Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.
    • Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S.
    • Biomedicines. 2022 Apr 26;10(5):1004. doi: 10.3390/biomedicines10051004.
    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
    • Li N, Zethoven M, McInerny S, Healey E, DeSilva D, Devereux L, Scott RJ, James PA, Campbell IG.
    • J Med Genet. 2022 Apr 8:jmedgenet-2021-108399. doi: 10.1136/jmedgenet-2021-108399. Epub ahead of print.
    • Genetic Analysis of a Family with Multiple Incidences of Prostate Cancer.
    • Feng N, Liu F, Xu X, Wang Y, Sheng Q, Zhu K.
    • Case Rep Oncol. 2022 Feb 7 [eCollection Jan-Apr 2022];15(1):86-90. doi: 10.1159/000521122.
    • Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
    • Casaletto J, Parsons M, Markello C, Iwasaki Y, Momozawa Y, Spurdle AB, Cline M.
    • Cell Genom. 2022 Mar 9;2(3):110882. doi: 10.1016/j.xgen.2022.100109.
    • Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.
    • Agaoglu NB, Unal B, Akgun Dogan O, Kanev MO, Zolfagharian P, Ozemri Sag S, Temel SG, Doganay L.
    • Eur J Hum Genet. 2022 Mar;30(3):378-383. doi: 10.1038/s41431-022-01060-7. Epub 2022 Feb 8.
    • A decade of RAD51C and RAD51D germline variants in cancer.
    • Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B.
    • Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30.
    • Review
    • Splicing predictions, minigene analyses and ACMG/AMP clinical classification of 42 germline PALB2 splice-site variants.
    • Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA.
    • J Pathol. 2022 Mar;256(3):321-334. doi: 10.1002/path.5839. Epub 2021 Dec 28.
    • Genetic Testing Challenges in Oncology: Muddled Reporting, Interpretation of PALB2 VUS.
    • Ray T.
    • Precision Oncology News. Cancer Specialties. 2022 Feb 23.
    • Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
    • Boonen RACM, Wiegant WW, Celosse N, Vroling B, Heijl S, Kote-Jarai Z, Mijuskovic M, Cristea S, Solleveld-Westerink N, van Wezel T, Beerenwinkel N, Eeles R, Devilee P, Vreeswijk MPG, Marra G, van Attikum H.
    • Cancer Res. 2022 Feb 15;82(4):615-631. doi: 10.1158/0008-5472.CAN-21-1845.
    • Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.
    • Bozsik A, Papp J, Grolmusz VK, Patócs A, Oláh E, Butz H.
    • Cancer Res Treat. 2022 Feb 8. doi: 10.4143/crt.2021.1078. Epub ahead of print.
    • The splicing effect of variants at branchpoint elements in cancer genes.
    • Canson DM, Dumenil T, Parsons MT, O'Mara TA, Davidson AL, Okano S, Signal B, Mercer TR, Glubb DM, Spurdle AB.
    • Genet Med. 2022 Feb;24(2):398-409. doi: 10.1016/j.gim.2021.09.020. Epub 2021 Nov 30.
    • Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
    • Ivanov M, Sharova M, Olsen A, Lebedeva A, Ignatova E, Mouse G, Mileyko V.
    • J Natl Compr Canc Netw. 2022 Feb;20(2):xxv. doi: 10.6004/jnccn.2021.7103.

    Related:

    Guideline:

    Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

    • The BRCA2 missense mutation K2497R suppressed self-degradation and increased ATP production and cell proliferation.
    • Enkhbat G, Nakanishi A, Miki Y.
    • Biochem Biophys Res Commun. 2022 Jan 29;590:27-33. doi: 10.1016/j.bbrc.2021.12.073. Epub 2021 Dec 23.
    • Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
    • Lim BWX, Li N, Rowley SM, Thompson ER, McInerny S, Zethoven M, Scott RJ, Devereux L, Sloan EK, James PA, Campbell IG.
    • NPJ Breast Cancer. 2022 Jan 17;8(1):10. doi: 10.1038/s41523-021-00373-y.
    • Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.
    • Li J, Wang P, Zhang C, Han S, Xiao H, Liu Z, Wang X, Liu W, Wei B, Ma J, Li H, Guo Y.
    • Front Oncol. 2022 Jan 11;11:812656. doi: 10.3389/fonc.2021.812656.
    • Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant.
    • Landry KK, Seward DJ, Dragon JA, Slavik M, Xu K, McKinnon WC, Colello L, Sweasy J, Wallace SS, Cuke M, Wood ME.
    • Cancer Genet. 2022 Jan;260-261:30-36. doi: 10.1016/j.cancergen.2021.11.004. Epub 2021 Nov 15.
    • Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.
    • Saita C, Aruga T, Adachi M, Kumaki Y, Iwamoto N, Yonekura R, Nakatsugawa N, Inokuchi T, Ishiba T, Honda Y, Yamaguchi T.
    • Int Cancer Conf J. 2021 Sep 22 [2022 Jan];11(1):12-16. doi: 10.1007/s13691-021-00512-z.
    • 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.
    • Background splicing as a predictor of aberrant splicing in genetic disease.
    • Alexieva D, Long Y, Sarkar R, Dhayan H, Bruet E, Winston Rm, Vorechovsky I, Castellano L, Dibb NJ.
    • RNA Biol. 2022 Jan;19(1):256-265. doi: 10.1080/15476286.2021.2024031.
    • Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
    • Maia N, Nabais Sá MJ, Oliveira C, Santos F, Soares CA, Prior C, Tkachenko N, Santos R, de Brouwer APM, Jacome A, Porto B, Jorge P.
    • Genes (Basel). 2021 Dec 28;13(1):78. doi: 10.3390/genes13010078.
    • Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
    • Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM.
    • Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17.

    Related:

    Press: Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations. (Precision Oncology News)

    • Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
    • Ozgencil M, Barwell J, Tischkowitz M, Izatt L, Kesterton I, Simpson M, Sharpe P, de Sepulveda P, Voisset E, Solomon E.
    • PLoS One. 2021 Dec 2;16(12):e0260852. doi: 10.1371/journal.pone.0260852.
    • RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
    • Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C.
    • Sci Rep. 2021 Nov 25;11(1):22948. doi: 10.1038/s41598-021-02465-y.
    • BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models.
    • Senturk N, Tuncel G, Dogan B, Aliyeva L, Dundar MS, Ozemri Sag S, Mocan G, Temel SG, Dundar M, Ergoren MC.
    • Genes (Basel). 2021 Nov 9;12(11):1774. doi: 10.3390/genes12111774.
    • Discordant Reporting of a Previously Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma.
    • Kordes M, Tamborero D, Lagerstedt-Robinson K, Yachnin J, Rosenquist R, Löhr JM, Gustafsson Liljefors M.
    • JCO Precis Oncol. 2021 Nov;5:974-980. doi: 10.1200/PO.21.00024.
    • BRCA1/BRCA2 variants of uncertain significance in clinical practice: A case report.
    • Huszno J, Piglowski W, Mazur M, Pamula-Pilat J, Zajkowicz A, Kierzkowska AF, Wojciechowska MO.
    • Mol Clin Oncol. 2021 Nov;15(5):222. doi: 10.3892/mco.2021.2385. Epub 2021 Aug 31.
    • Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
    • Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf C, Le Gall J, Legendre B, Legrand C, Legros A, Lejeune S, Lidereau R, Lignon N, Limacher JM, Doriane Livon, Lizard S, Longy M, Lortholary A, Macquere P, Mailliez A, Malsa S, Margot H, Mari V, Maugard C, Meira C, Menjard J, Molière D, Moncoutier V, Moretta-Serra J, Muller E, Nevière Z, Nguyen Minh Tuan TV, Noguchi T, Noguès C, Oca F, Popovici C, Prieur F, Raad S, Rey JM, Ricou A, Salle L, Saule C, Sevenet N, Simaga F, Sobol H, Suybeng V, Tennevet I, Tenreiro H, Tinat J, Toulas C, Turbiez I, Uhrhammer N, Vande Perre P, Vaur D, Venat L, Viellard N, Villy MC, Warcoin M, Yvard A, Zattara H, Caron O, Lasset C, Remenieras A, Boutry-Kryza N, Castéra L, Stoppa-Lyonnet D.
    • Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30.
    • Germline likely pathogenic variants in ataxia-telangiectasia-mutated gene in an Iranian family with hereditary diffuse gastric cancer without CDH1 mutation.
    • Kheirollahi M, Saneipour M, Moridnia A.
    • J Cancer Res Ther. 2021 Oct-Dec;17(6):1434-1437. doi: 10.4103/jcrt.JCRT_344_19.
    • Towards a CRISPeR understanding of homologous recombination with high-throughput functional genomics.
    • Hayward SB, Ciccia A.
    • Curr Opin Genet Dev. 2021 Sep 25;71:171-181. doi: 10.1016/j.gde.2021.08.006. Epub ahead of print.
    • Review
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
    • Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • 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.
    • Risks and Function of Breast Cancer Susceptibility Alleles.
    • Torabi Dalivandan S, Plummer J, Gayther SA.
    • Cancers (Basel). 2021 Aug 5;13(16):3953. doi: 10.3390/cancers13163953.
    • Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.
    • Sessa G, Ehlén Å, von Nicolai C, Carreira A.
    • Cancers (Basel). 2021 Jul 23;13(15):3719. doi: 10.3390/cancers13153719.
    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
    • Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
    • Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
    • A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
    • Magraner-Pardo L, Laskowski RA, Pons T, Thornton JM.
    • Sci Rep. 2021 Jul 12;11(1):14268. doi: 10.1038/s41598-021-93715-6.
    • Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type.
    • Maccaroni E, Lenci E, Agostinelli V, Cognigni V, Giampieri R, Mazzanti P, Di Pietro Paolo M, Bianchi F, Brugiati C, Belvederesi L, Pagliaretta S, Mandolesi A, Scarpelli M, Murrone A, Morgese F, Ballatore Z, Berardi R.
    • Explor Target Antitumor Ther. 2021 [Jun 28];2(3):240-248. doi: 10.37349/etat.2021.00044. Epub 2021 Jun 28.
    • 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.
    • RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
    • Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Lorca V, Gómez-Sanz A, Carvalho S, Allen J, Infante M, Pérez-Segura P, Lázaro C, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco EA.
    • Cancers (Basel). 2021 Jun 7;13(11):2845. doi: 10.3390/cancers13112845.
    • Mutational spectrum in clinically aggressive low-grade serous carcinoma/serous borderline tumors of the ovary-Clinical significance of BRCA2 gene variants in genomically stable tumors.
    • Zhang X, Devins K, Ko EM, Reyes MC, Simpkins F, Drapkin R, Schwartz LE, Yoon JY.
    • Gynecol Oncol. 2021 Jun;161(3):762-768. doi: 10.1016/j.ygyno.2021.03.019. Epub 2021 Mar 24.
    • Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
    • Calvo JA, Fritchman B, Hernandez D, Persky NS, Johannessen CM, Piccioni F, Kelch BA, Cantor SB.
    • Mol Cancer Res. 2021 Jun;19(6):1015-1025. doi: 10.1158/1541-7786.MCR-20-0828. Epub 2021 Feb 22.
    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    • Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D.
    • Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832.
    • A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.
    • Wang K, Ye Y, Bao L, Cheng Y, Cao Y, Yu J.
    • Cancer Genet. 2021 May 26;256-257:127-130. doi: 10.1016/j.cancergen.2021.05.007. Epub ahead of print.
    • Case report
    • Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
    • Hong J, Kim JH, Ahn SH, Gu H, Chang S, Lee W, Kim DY, Chun S, Min WK.
    • Genes (Basel). 2021 May 26;12(6):810. doi: 10.3390/genes12060810.
    • Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
    • Zografos E, Korakiti AM, Andrikopoulou A, Rellias I, Dimitrakakis C, Marinopoulos S, Giannos A, Keramopoulos A, Bredakis N, Dimopoulos MA, Zagouri F.
    • BMC Cancer. 2021 May 19;21(1):572. doi: 10.1186/s12885-021-08310-9.
    • Identification of the core motif of the BRCA2 C-terminal RAD51-binding domain by comparing canine and human BRCA2.
    • Yoshikawa Y, Morimatsu M, Ochiai K, Ishiguro-Oonuma T, Morioka R, Okuda K, Orino K.
    • J Vet Med Sci. 2021 May 9;83(5):759-766. doi: 10.1292/jvms.21-0006. Epub 2021 Mar 16.
    • A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation.
    • Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.
    • J Mol Diagn. 2021 May 5:S1525-1578(21)00119-7. doi: 10.1016/j.jmoldx.2021.04.010. Epub ahead of print.
    • In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
    • Arshad S, Ishaque I, Mumtaz S, Rashid MU, Malkani N.
    • Biochem Genet. 2021 May 4. doi: 10.1007/s10528-021-10074-7. Epub ahead of print.
    • Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
    • Kim JH, Park S, Park HS, Park JS, Lee ST, Kim SW, Lee JW, Lee MH, Park SK, Noh WC, Choi DH, Han W, Jung SH.
    • Sci Rep. 2021 Apr 19;11(1):8485. doi: 10.1038/s41598-021-87792-w.
    • Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.
    • Zhu H, Welinsky S, Soper ER, Brown KL, Abul-Husn NS, Lucas AL.
    • Pancreas. 2021 Apr 1;50(4):602-606. doi: 10.1097/MPA.0000000000001804.
    • Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.
    • Wan Q, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Fam Cancer. 2021 Apr;20(2):85-95. doi: 10.1007/s10689-020-00202-4. Epub 2020 Aug 17.
    • Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.
    • Nawar N, Paul A, Mahmood HN, Faisal MI, Hosen MI, Shekhar HU.
    • Bioinformation. 2021 Mar 31;17(3):424-438. doi: 10.6026/97320630017424.
    • Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.
    • Kastora S, Triantafyllidou O, Kounidas G, Vlahos N.
    • BMJ Case Rep. 2021 Mar 24;14(3):e241251. doi: 10.1136/bcr-2020-241251.
    • Case report
    • Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
    • Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ.
    • Am J Hum Genet. 2021 Mar 4;108(3):458-468. doi: 10.1016/j.ajhg.2021.02.005. Epub 2021 Feb 19.

    Related:

    News: BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions (Precision Oncology News)

    • The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
    • De Paolis E, Pietragalla A, De Bonis M, Fagotti A, Urbani A, Scambia G, Minucci A.
    • Mol Biol Rep. 2021 Mar;48(3):2985-2992. doi: 10.1007/s11033-021-06243-x. Epub 2021 Mar 3.
    • Case report
    • PALB2 Variants: Protein Domains and Cancer Susceptibility.
    • Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA.
    • Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1.
    • Review
    • Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
    • Butz H, Papp J, Bozsik A, Krokker L, Pócza T, Oláh E, Patócs A.
    • Cancers (Basel). 2021 Feb 20;13(4):881. doi: 10.3390/cancers13040881.
    • Functional interrogation of DNA damage response variants with base editing screens.
    • Cuella-Martin R, Hayward SB, Fan X, Chen X, Huang JW, Taglialatela A, Leuzzi G, Zhao J, Rabadan R, Lu C, Shen Y, Ciccia A.
    • Cell. 2021 Feb 18;184(4):1081-1097.e19. doi: 10.1016/j.cell.2021.01.041.
    • Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
    • Gomes R, Spinola PDS, Brant AC, Matta BP, Nascimento CM, de Aquino Paes SM, Bonvicino CR, Dos Santos ACE, Moreira MAM.
    • Breast Cancer Res Treat. 2021 Feb;185(3):851-861. doi: 10.1007/s10549-020-05985-9. Epub 2020 Oct 30.
    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):869-877. doi: 10.1007/s10549-020-06066-7. Epub 2021 Jan 16.
    • Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
    • Elkholi IE, Di Iorio M, Fahiminiya S, Arcand SL, Han H, Nogué C, Behl S, Hamel N, Giroux S, de Ladurantaye M, Aleynikova O, Gotlieb WH, Côté JF, Rousseau F, Tonin PN, Provencher D, MesMasson AM, Akbari MR, Rivera B, Foulkes WD.
    • Sci Rep. 2021 Jan 28;11(1):2409. doi: 10.1038/s41598-021-81106-w.
    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
    • Baughan S, Tainsky MA.
    • Cancers (Basel). 2021 Jan 25;13(3):447. doi: 10.3390/cancers13030447.
    • Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Federico A, Passariello L, Cioffi M, Molinari AM.
    • Med Oncol. 2021 Jan 23;38(2):13. doi: 10.1007/s12032-021-01454-5.
    • Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
    • Nix P, Mundt E, Coffee B, Goossen E, Warf BM, Brown K, Bowles K, Roa B.
    • Fam Cancer. 2021 Jan 20. doi: 10.1007/s10689-020-00224-y. Epub ahead of print.
    • Pathogenicity Assessment of Variants for Breast Cancer Susceptibility Genes Based on BRCAness of Tumor Sample.
    • Yoshida R, Hagio T, Kaneyasu T, Gotoh O, Osako T, Tanaka N, Amino S, Yaguchi N, Nakashima E, Kitagawa D, Ueno T, Ohno S, Nakajima T, Nakamura S, Miki Y, Hirota T, Takahashi S, Matsuura M, Noda T, Mori S.
    • Cancer Sci. 2021 Jan 9. doi: 10.1111/cas.14803. Epub ahead of print.
    • Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.
    • Rashid MU, Muhammad N, Khan FA, Shehzad U, Naeemi H, Malkani N, Hamann U.
    • Hered Cancer Clin Pract. 2020 Dec 20;18(1):25. doi: 10.1186/s13053-020-00159-6.
    • Epidemiological and ES cell-based Functional Evaluation of BRCA2 Variants Identified in Families with Breast Cancer.
    • Sullivan T, Thirthagiri E, Chong CE, Stauffer S, Reid S, Southon E, Hassan T, Ravichandran A, Wijaya E, Lim J, Taib NAM, Fadzli F, Yip CH, Hartman M, Li J, van Dam RM; SGBCC Investigators; MYBRCA Investigators, North SL, Das R, Easton DF, Biswas K, Teo SH, Sharan SK.
    • Hum Mutat. 2020 Dec 13. doi: 10.1002/humu.24154. Epub ahead of print.
    • CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.
    • Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, Kleibl Z.
    • Cells. 2020 Dec 12;9(12):E2675. doi: 10.3390/cells9122675.
    • Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
    • Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Gareth Evans D, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel.
    • Hum Mutat. 2020 Dec 10. doi: 10.1002/humu.24152. Epub ahead of print.
    • A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
    • Biswas K, Lipton GB, Stauffer S, Sullivan T, Cleveland L, Southon E, Reid S, Magidson V, Iversen ES Jr, Sharan SK.
    • NPJ Genom Med. 2020 Dec 8;5(1):52. doi: 10.1038/s41525-020-00158-5.
    • A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
    • Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C.
    • Clin Chem. 2020 Dec 6:hvaa250. doi: 10.1093/clinchem/hvaa250. Epub ahead of print.
    • A novel BRCA2 splice variant identified in a young woman.
    • Nicolussi A, Belardinilli F, Ottini L, Petroni M, Capalbo C, Giannini G, Coppa A.
    • Mol Genet Genomic Med. 2020 Dec;8(12):e1513. doi: 10.1002/mgg3.1513. Epub 2020 Nov 7.
    • Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
    • Mighri N, Hamdi Y, Boujemaa M, Othman H, Ben Nasr S, El Benna H, Mejri N, Labidi S, Ayari J, Jaidene O, Bouaziz H, Ben Rekaya M, M'rad R, Haddaoui A, Rahal K, Boussen H, Boubaker S, Abdelhak S.
    • Front Genet. 2020 Nov 6;11:552971. doi: 10.3389/fgene.2020.552971.
    • Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant.
    • Nix P, Mundt E, Manley S, Coffee B, Roa B.
    • JCO Precis Oncol. 2020 Nov;4:730-735. doi: 10.1200/PO.20.00118.

    Related:

    Letter, Commentary:

    RNA-Seq Analysis Is a Useful Tool in Variant Classification.

    Letter, Reply:

    Reply to R. Karam et al.

    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

    Related:

    Press: Many supposed breast cancer risk genes don’t raise risk, studies find. (The Philadelphia Inquirer)

    Blog post: My Gene Counsel Quoted in The Philadelphia Inquirer. (My Gene Counsel)

    Original research:

    Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

    • Multiple Uveal Melanoma.
    • Kheir WJ, Kim JS, Materin MA.
    • Ocul Oncol Pathol. 2020 Oct;6(5):368-375. doi: 10.1159/000508393. Epub 2020 Jul 15.
    • Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
    • Boonen RACM, Vreeswijk MPG, van Attikum H.
    • Front Mol Biosci. 2020 Sep 16;7:169. doi: 10.3389/fmolb.2020.00169.
    • Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.
    • Pinheiro M, Peixoto A, Santos C, Escudeiro C, Bizarro S, Pinto P, Santos R, Pinto C, Guerra J, Silva J, Teixeira MR.
    • Cancer Genet. 2020 Sep 11;248-249:18-24. doi: 10.1016/j.cancergen.2020.09.001. Epub ahead of print.
    • Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
    • Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C.
    • Hum Mutat. 2020 Sep 9. doi: 10.1002/humu.24110. Epub ahead of print.
    • Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.
    • Kovácová T, Soucek P, Hujová P, Freiberger T, Grodecká L.
    • Int J Mol Sci. 2020 Sep 8;21(18):E6553. doi: 10.3390/ijms21186553.
    • Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.
    • Agata S, Tognazzo S, Alducci E, Matricardi L, Moserle L, Barana D, Montagna M.
    • Sci Rep. 2020 Aug 19;10(1):13987. doi: 10.1038/s41598-020-70729-0.
    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
    • Velázquez C, De Leeneer K, Esteban-Cardeñosa EM, Avila Cobos F, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Claes KB, Durán M, Infante M.
    • Cancers (Basel). 2020 Aug 3;12(8):E2151. doi: 10.3390/cancers12082151.
    • Investigation into the origins of an ancient BRCA1 founder mutation identified among Chinese families in Singapore.
    • Shaw T, Chan SH, Teo JX, Chong ST, Li ST, Courtney E, Ishak D, Sankar H, Ang ZLT, Chiang J, Loh M, Zhou L, Lee SC, Yeh HY, Kolinjivadi AM, Lim WK, Ngeow J.
    • Int J Cancer. 2020 Aug 3. doi: 10.1002/ijc.33241. Epub ahead of print.
    • Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system.
    • Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léone M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A.
    • Cancer Res. 2020 Jul 8:canres.0895.2020. doi: 10.1158/0008-5472.CAN-20-0895. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
    • Canson D, Glubb D, Spurdle AB.
    • Hum Mutat. 2020 Jul 5. doi: 10.1002/humu.24074. Epub ahead of print.
    • Review
    • Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers.
    • Pirim D, Kaya N, Yildirim EU, Sag SO, Temel SG.
    • Int J Biol Macromol. 2020 Jun 26:S0141-8130(20)33675-8. doi: 10.1016/j.ijbiomac.2020.06.222. Epub ahead of print.
    • Secondary Angiosarcoma With C-MYC Amplification Following Prophylactic Bilateral Mastectomy and Autologous Breast Reconstruction: Report of a Case and Review of the Literature.
    • Webb C, Partain N, Koduru P, Hwang H, Sarode VR.
    • Int J Surg Pathol. 2020 Jun 18:1066896920930100. doi: 10.1177/1066896920930100. Epub ahead of print.
    • Case report
    • Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays.
    • Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA, Segers K, Badoer C, Vandernoot I, Hilbert P, Storm K, Blaumeiser B, Claes KBM, Seneca S, Michils G, van den Ouweland A, Collée JM, van der Stoep N, Blok MJ, Bleeker FE, Hogervorst FBL, Mensenkamp AR, van der Hout AH, Oosterwijk JC, van der Luijt RB, Koudijs MJ, Vreeswijk MPG, Jonkers J.
    • Clin Cancer Res. 2020 Jun 16:clincanres.0255.2020. doi: 10.1158/1078-0432.CCR-20-0255. Epub ahead of print.
    • Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
    • Hirotsu Y, Schmidt-Edelkraut U, Nakagomi H, Sakamoto I, Hartenfeller M, Narang R, Soldatos TG, Kaduthanam S, Wang X, Hettich S, Brock S, Jackson DB, Omata M.
    • Int J Mol Sci. 2020 May 29;21(11):E3895. doi: 10.3390/ijms21113895.
    • Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
    • Ray T.
    • Precision Oncology News. 2020 May 26.
    • High-throughput functional evaluation of BRCA2 variants of unknown significance.
    • Ikegami M, Kohsaka S, Ueno T, Momozawa Y, Inoue S, Tamura K, Shimomura A, Hosoya N, Kobayashi H, Tanaka S, Mano H.
    • Nat Commun. 2020 May 22;11(1):2573. doi: 10.1038/s41467-020-16141-8.
    • Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.
    • Hur JY, Kim JY, Ahn JS, Im YH, Lee J, Kwon M, Park YH.
    • Cancers (Basel). 2020 May 21;12(5):E1306. doi: 10.3390/cancers12051306.
    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
    • Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
    • Mesman RLS, Calléja FMGR, de la Hoya M, Devilee P, van Asperen CJ, Vrieling H, Vreeswijk MPG.
    • Genet Med. 2020 May 13. doi: 10.1038/s41436-020-0814-5. Epub ahead of print.
    • Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
    • Sirisena N, Biswas K, Sullivan T, Stauffer S, Cleveland L, Southon E, Dissanayake VHW, Sharan SK.
    • Breast Cancer Res. 2020 May 11;22(1):43. doi: 10.1186/s13058-020-01272-z.
    • Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.
    • Stauffer S, Biswas K, Sharan SK.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0768-0. Epub ahead of print.
    • Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
    • Zarrizi R, Higgs MR, Voßgröne K, Rossing M, Bertelsen B, Bose M, Kousholt AN, Rösner HI, Ejlertsen B, Stewart GS, Nielsen FC, Sørensen C.
    • J Clin Invest. 2020 May 7. pii: 127521. doi: 10.1172/JCI127521. [Epub ahead of print]
    • Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family.
    • Liao Y, Tu C, Song X, Cai L.
    • J Assist Reprod Genet. 2020 Apr 30. doi: 10.1007/s10815-020-01783-w. [Epub ahead of print]
    • Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
    • Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans , Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP.
    • Breast Cancer Res. 2020 Apr 15;22(1):36. doi: 10.1186/s13058-020-01273-y.
    • Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
    • Meulemans L, Mesman RLS, Caputo SM, Krieger S, Guillaud-Bataille M, Caux-Moncoutier V, Léone M, Boutry-Kryza N, Sokolowska J, Révillion F, Delnatte C, Tubeuf H, Soukarieh O, Bonnet-Dorion F, Guibert V, Bronner M, Bourdon V, Lizard S, Vilquin P, Privat M, Drouet A, Grout C, Calléja FMGR, Golmard L, Vrieling H, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Vreeswijk MPG, Martins A, Gaildrat P.
    • Cancer Res. 2020 Apr 1;80(7):1374-1386. doi: 10.1158/0008-5472.CAN-19-2491. Epub 2020 Feb 11.
    • Is BRCA2 involved in early onset colorectal cancer risk?
    • Gay-Bellile M, Privat M, Martins A, Caputo SM, Pebrel-Richard , Cavaillé M, Viala S, Corsini C, Rodrigues M, Barnich N, Bidet Y, Uhrhammer N, Bignon YJ.
    • Clin Genet. 2020 Apr;97(4):668-669. doi: 10.1111/cge.13679. Epub 2019 Dec 26.
    • Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.
    • Toh MR, Low CE, Chong ST, Chan SH, Ishak NDB, Courtney E, Kolinjivadi AM Rodrigue A, Masson JY, Ngeow J.
    • Fam Cancer. 2020 Apr;19(2):123-131. doi: 10.1007/s10689-020-00163-8.
    • Case report
    • Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.
    • Wappenschmidt B, Hauke J, Faust U, Niederacher D, Wiesmüller L, Schmidt G, Groß E, Gehrig A, Sutter C, Ramser J, Rump A, Arnold N, Meindl A.
    • Geburtshilfe Frauenheilkd. 2020 Apr;80(4):410-429. doi: 10.1055/a-1110-0909. Epub 2020 Apr 21.
    • PALB2 Genetic Variants: Can Functional Assays Assist Translation?
    • Southey MC, Rewse A, Nguyen-Dumont T.
    • Trends Cancer. 2020 Apr;6(4):263-265. doi: 10.1016/j.trecan.2020.01.017. Epub 2020 Feb 13.
    • Review
    • Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.
    • Sinha S, Wang SM.
    • Comput Struct Biotechnol J. 2020 Mar 21;18:723-736. doi: 10.1016/j.csbj.2020.03.013. eCollection 2020.
    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
    • Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM.
    • Eur J Hum Genet. 2020 Mar 20. doi: 10.1038/s41431-020-0612-1. [Epub ahead of print]
    • Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer.
    • Reiner AS, Robson ME, Mellemkjær L, Tischkowitz M, John EM, Lynch CF, Brooks JD, Boice JD, Knight JA, Teraoka SN, Liang X, Woods M, Shen R, Shore RE, Stram DO, Thomas DC, Malone KE, Bernstein L, Riaz N, Woodward W, Powell S, Goldgar D, Concannon P; WECARE Study Collaborative Group, Bernstein JL.
    • J Natl Cancer Inst. 2020 Mar 2. pii: djaa031. doi: 10.1093/jnci/djaa031. [Epub ahead of print]
    • Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
    • Chevalier LM, Billaud A, Fronteau S, Dauvé J, Patsouris A, Verriele V, Morel A.
    • Mol Diagn Ther. 2020 Mar 2. doi: 10.1007/s40291-020-00452-z. [Epub ahead of print]
    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
    • Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno JC, Cardenas-Goicoechea J.
    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
    • Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R.
    • NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020.
    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]
    • Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
    • da Costa E Silva Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Texeira LA, Plaça JR, Marques AA, Peronni KC, Ruy PC, Molfetta GA, Moriguti JC, Carraro DM, Palmero EI, Ashton-Prolla P, de Faria Ferraz VE, Silva WA Jr.
    • BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y.
    • Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant.
    • Park HS, Ryu JM, Park , Im SA, Jung SY, Kim EK, Park WC, Min JW, Lee J, You JY, Lee JE, Kim SW.
    • Cancer Res Treat. 2020 Jan 28. doi: 10.4143/crt.2019.351. [Epub ahead of print]
    • Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer.
    • Kim HK, Lee EJ, Lee YJ, Kim J, Kim Y, Kim K, Lee SW, Chang S, Lee YJ, Lee JW, Lee W, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
    • J Hum Genet. 2020 Jan 6. doi: 10.1038/s10038-019-0713-2. [Epub ahead of print]
    • A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.
    • Marcus AD.
    • The Wall Street Journal. 2019 Dec 20.
    • Press

    Related:

    Press: Downgraded Variant. (GenomeWeb)

    • Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.
    • Minucci A, Mazzuccato G, D'Indinosante M, Di Nardo L, Concolino P, De Bonis M, Urbani A, Scambia G, Fagotti A, Capoluongo E.
    • Mol Biol Rep. 2019 Dec 12. doi: 10.1007/s11033-019-05199-3. [Epub ahead of print]
    • Rare BRIP1 missense alleles confer risk for ovarian and breast cancer.
    • Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ.
    • Cancer Res. 2019 Dec 10. pii: canres.1991.2019. doi: 10.1158/0008-5472.CAN-19-1991. [Epub ahead of print]
    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Related:

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

    • A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
    • Dawson LM, Smith KN, Werdyani S, Ndikumana R, Penney C, Wiede LL, Smith KL, Pater JA, MacMillan A, Green J, Drover S, Young TL, O'Rielly DD.
    • Mol Genet Genomic Med. 2019 Nov 28:e1070. doi: 10.1002/mgg3.1070. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
    • van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D.
    • Mol Genet Genomic Med. 2019 Nov 13:e1045. doi: 10.1002/mgg3.1045. [Epub ahead of print]
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Functional characterization of 84 PALB2 variants of uncertain significance.
    • Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ.
    • Genet Med. 2019 Oct 21. doi: 10.1038/s41436-019-0682-z. [Epub ahead of print]
    • A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
    • Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY.
    • Nucleic Acids Res. 2019 Oct 5. pii: gkz780. doi: 10.1093/nar/gkz780. [Epub ahead of print]
    • Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
    • Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL.
    • Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613.
    • A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.
    • Esposito MV, Minopoli G, Esposito L, D'Argenio V, Di Maggio F, Sasso E, D'Aiuto M, Zambrano N, Salvatore F.
    • Cancers (Basel). 2019 Sep 28;11(10). pii: E1454. doi: 10.3390/cancers11101454.
    • Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
    • Wu B, Peng Y, Eggert J, Alexov E.
    • Int J Mol Sci. 2019 Sep 28;20(19). pii: E4828. doi: 10.3390/ijms20194828.
    • Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.
    • Akter H, Sultana N, Martuza N, Siddiqua A, Dity NJ, Rahaman MA, Samara B, Sayeed A, Basiruzzaman M, Rahman MM, Rashidul Hoq M, Amin MR, Baqui MA, Woodbury-Smith M, Uddin KMF, Islam SS, Awwal R, Berdiev BK, Uddin M.
    • BMC Med Genet. 2019 Sep 2;20(1):150. doi: 10.1186/s12881-019-0881-0.
    • Functional investigation of the BRCA1 Val1714Gly and Asp1733Gly variants by computational tools and yeast transcription activation assay.
    • Yadegari F, Farahmand L, Esmaeili R, Samadi T, Majidzadeh K.
    • Mol Biol Res Commun. 2019 Sep;8(3):113-118. doi: 10.22099/mbrc.2019.33971.1414.
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, Nasioulas G.
    • BMC Med Genet. 2019 Jul 26;20(1):131. doi: 10.1186/s12881-019-0862-3.
    • Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
    • Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Hum Mutat. 2019 Jul 25. doi: 10.1002/humu.23882. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [Epub ahead of print]
    • A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.
    • Bogdanova NV, Schürmann P, Valova Y, Dubrowinskaja N, Turmanov N, Yugay T, Essimsiitova Z, Mingazheva E, Prokofyeva D, Bermisheva M, Khusnutdinova E, Dörk T.
    • Front Oncol. 2019 Jun 14;9:493. doi: 10.3389/fonc.2019.00493. eCollection 2019.
    • Discovery of a pathogenic variant rs139379666 (p. P2974L) in ATM for breast cancer risk in Chinese populations.
    • Guo X, Lin W, Bai M, Li H, Wen W, Zeng C, Chen Z, He J, Chen J, Cai Q, Long J, Jia WH, Shu XO, Zheng W.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jun 3. pii: cebp.1294.2018. doi: 10.1158/1055-9965.EPI-18-1294. [Epub ahead of print]
    • Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
    • Aceto GM, Awadelkarim KD, Di Nicola M, Moscatello C, Pantalone MR, Verginelli F, Elwali NE, Mariani-Costantini R.
    • Breast Cancer Res Treat. 2019 Jun;175(2):479-485. doi: 10.1007/s10549-019-05168-1. Epub 2019 Feb 22.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.
    • Suszynska M, Kluzniak W, Wokolorczyk D, Jakubowska A, Huzarski T, Gronwald J, Debniak T, Szwiec M, Ratajska M, Klonowska K, Narod S, Bogdanova N, Dörk T, Lubinski J, Cybulski C, Kozlowski P.
    • Cancers (Basel). 2019 May 28;11(6). pii: E740. doi: 10.3390/cancers11060740.
    • Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Caloca MJ, Gómez-Barrero S, Velasco EA.
    • Front Genet. 2019 May 28;10:503. doi: 10.3389/fgene.2019.00503. eCollection 2019.
    • Assessment of PARP4 as a candidate breast cancer susceptibility gene.
    • Prawira A, Munusamy P, Yuan J, Chan CHT, Koh GL, Shuen TWH, Hu J, Yap YS, Tan MH, Ang P, Lee ASG.
    • Breast Cancer Res Treat. 2019 May 22. doi: 10.1007/s10549-019-05286-w. [Epub ahead of print]
    • Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
    • Wangensteen T, Felde CN, Ahmed D, Mæhle L, Ariansen SL.
    • Hered Cancer Clin Pract. 2019 May 22;17:14. doi: 10.1186/s13053-019-0113-9. eCollection 2019.
    • Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.
    • Garg A, Pal D.
    • Hum Mutat. 2019 May 20. doi: 10.1002/humu.23800. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Related:

    Editorial:

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

    • Functional characterization of novel pathogenic germline TP53 variants in Swedish families.
    • Kharaziha P, Ceder S, Axell O, Krall M, Fotouhi O, Böhm S, Lain S, Borg Å, Larsson C, Wiman KG, Tham E, Bajalica-Lagercrantz S.
    • Clin Genet. 2019 May 12. doi: 10.1111/cge.13564. [Epub ahead of print]
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.
    • Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, Papavassiliou AG, Kleibl Z, Stratikos E, Voutsinas GE, Yannoukakos D.
    • Hum Mutat. 2019 May;40(5):631-648. doi: 10.1002/humu.23728. Epub 2019 Mar 9.
    • Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
    • Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.
    • J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14.
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
    • Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O.
    • Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14.
    • Case report
    • Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.
    • Smith MJ, Woodward ER, Burghel GJ, Banks C, Morgan RD, Wallace AJ, Turnbull C, Evans DG.
    • Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26.
    • Letter
    • Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.
    • Adamovich AI, Banerjee T, Wingo M, Duncan K, Ning J, Martins Rodrigues F, Huang KL, Lee C, Chen F, Ding L, Parvin JD.
    • PLoS Genet. 2019 Mar 29;15(3):e1008049. doi: 10.1371/journal.pgen.1008049. eCollection 2019 Mar.
    • Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
    • Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A, Investigators K, Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M.
    • J Med Genet. 2019 Mar 19. pii: jmedgenet-2018-105834. doi: 10.1136/jmedgenet-2018-105834. [Epub ahead of print]
    • Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA.
    • J Pathol. 2019 Mar 18. doi: 10.1002/path.5268. [Epub ahead of print]
    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
    • Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.
    • DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
    • Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A.
    • Genet Med. 2019 Mar;21(3):683-693. doi: 10.1038/s41436-018-0092-7. Epub 2018 Jul 28.
    • Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
    • Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR.
    • Mol Omics. 2019 Feb 11;15(1):59-66. doi: 10.1039/c8mo00137e.
    • Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
    • Lattimore VL, Pearson JF, Morley-Bunker AE, Investigators K, Spurdle AB, Robinson BA, Currie MJ, Walker LC.
    • Int J Mol Sci. 2019 Feb 6;20(3). pii: E693. doi: 10.3390/ijms20030693.
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.
    • Rizza R, Hackmann K, Paris I, Minucci A, De Leo R, Schrock E, Urbani A, Capoluongo E, Gelli G, Concolino P.
    • Mol Diagn Ther. 2019 Feb;23(1):121-126. doi: 10.1007/s40291-018-0376-2.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
    • Minucci A, Lalle M, De Leo R, Mazzuccato G, Scambia G, Urbani A, Fagotti A, Concolino P, Capoluongo E.
    • Clin Biochem. 2019 Jan;63:54-58. doi: 10.1016/j.clinbiochem.2018.10.004. Epub 2018 Oct 10.
    • Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    • Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network.
    • Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
    • Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
    • Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M.
    • Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22.
    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
    • Solodskikh SA, Panevina AV, Gryaznova MV, Gureev AP, Serzhantova OV, Mikhailov AA, Maslov AY, Popov VN.
    • Mutat Res. 2019 Jan;813:51-57. doi: 10.1016/j.mrfmmm.2018.12.005. Epub 2018 Dec 29.
    • Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing.
    • Heczkova M, Machackova E, Macinga P, Gallmeier E, Cahova M, Spicak J, Jirsa M, Foretova L, Hucl T.
    • Cancer Biol Ther. 2019;20(5):633-641. doi: 10.1080/15384047.2018.1550566. Epub 2019 Jan 13.
    • A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
    • Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.
    • Case report
    • BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
    • Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.
    • Hum Mutat. 2018 Dec;39(12):2025-2039. doi: 10.1002/humu.23652. Epub 2018 Sep 24.
    • Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
    • Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N.
    • Hum Genomics. 2018 Nov 20;12(1):51. doi: 10.1186/s40246-018-0183-1.
    • Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
    • Santana Dos Santos E, Lallemand F, Burke L, Stoppa-Lyonnet D, Brown M, Caputo SM, Rouleau E.
    • Cancers (Basel). 2018 Nov 16;10(11). pii: E453. doi: 10.3390/cancers10110453.
    • Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
    • Tudini E, Moghadasi S, Parsons MT, van der Kolk L, van den Ouweland AMW, Niederacher D, Feliubadaló L, Wappenschmidt B, Spurdle AB, Lazaro C.
    • Breast Cancer Res Treat. 2018 Nov;172(2):497-503. doi: 10.1007/s10549-018-4903-y. Epub 2018 Aug 13.
    • Unusual recurrence of breast cancer in a BRCA-variant patient after fat grafting.
    • Skendelas JP, Lee C, Mangino A, Carson WE 3rd.
    • Clin Case Rep. 2018 Oct 31;6(12):2457-2462. doi: 10.1002/ccr3.1861. eCollection 2018 Dec.
    • Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
    • Caleca L, Catucci I, Figlioli G, De Cecco L, Pesaran T, Ward M, Volorio S, Falanga A, Marchetti M, Iascone M, Tondini C, Zambelli A, Azzollini J, Manoukian S, Radice P, Peterlongo P.
    • Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. eCollection 2018.
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
    • Leman R, Gaildrat P, Gac GL, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M8, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C.
    • Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372.
    • Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
    • Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S.
    • Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13.
    • Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment.
    • Liu Y, Guo Z, Zhao C, Li X, Liu H, Chen J.
    • Onco Targets Ther. 2018 Aug 31;11:5339-5347. doi: 10.2147/OTT.S161360. eCollection 2018.
    • A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
    • Krempely K, Karam R.
    • Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
    • DNA Repair Gene Alterations and PARP Inhibitor Response in Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Lu E, Thomas GV, Chen Y, Wyatt AW, Lloyd P, Youngren J, Quigley D, Bergan R, Bailey S, Beer TM, Feng FY, Small EJ, Alumkal JJ.
    • J Natl Compr Canc Netw. 2018 Aug 1;16(8):933-937. doi: 10.6004/jnccn.2018.7020.
    • RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.
    • Jansen AM, van der Klift HM, Roos MA, van Eendenburg JD, Tops CM, Wijnen JT, Hes FJ, Morreau H, van Wezel T.
    • Eur J Hum Genet. 2018 Aug;26(8):1143-1150. doi: 10.1038/s41431-018-0153-z. Epub 2018 Apr 30.
    • Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.
    • Farber-Katz S, Hsuan V, Wu S, Landrith T, Vuong H, Xu D, Li B, Hoo J, Lam S, Nashed S, Toppmeyer D, Gray P, Haynes G, Lu HM, Elliott A, Tippin Davis B, Karam R.
    • Front Oncol. 2018 Jul 27;8:286. doi: 10.3389/fonc.2018.00286. eCollection 2018.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Acedo A, Velasco EA.
    • Front Genet. 2018 May 24. doi: 10.3389/fgene.2018.00188. eCollection 2018.
    • Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features.
    • Abdulrahman AA, Heintzelman RC, Corbman M, Garcia FU.
    • Breast J. 2018 May;24(3):291-297. doi: 10.1111/tbj.12930. Epub 2017 Oct 7.
    • BRCA1 and BRCA2 Germline Mutation Screening in Western Algeria using High Resolution Melting Analysis (HRM).
    • Boulenouar ACS, Coulet F, Bendiab FMT, Boudinar FZ, Senhadji R.
    • Gulf J Oncolog. 2018 May;1(27):31-37.
    • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
    • Colombo M, Lòpez-Perolio I, Meeks HD, Caleca L, Parsons M, Li H, De Vecchi G, Tudini E, Foglia C, Mondini P, Manoukian S, Behar R, Garcia EBG, Meindl A, Montagna M, Niederacher D, Schmidt AY, Varesco L, Wappenschmidt B, Bolla MK, Dennis J, Michailidou K, Wang Q, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadel A, Benitez J, Boeckx B, Bogdanova NV, Bojesen SE, Bonanni B, Brauch H, Brenner H, Burwinkel B, Chang-Claude J, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Eriksson M, Fasching PA, Figueroa J, Fletcher O, Flyger H, Gabrielson M, García-Closas M, Giles GG, González-Neira A, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hauke J, Hollestelle A, Hopper JL, Jakubowska A, Jung A, Kosma VM, Lambrechts D, Marchand LL, Lindblom A, Lubinski J, Mannermaa A, Margolin S, Miao H, Milne RL, Neuhausen SL, Nevanlinna H, Olson JE, Peterlongo P, Peto J, Pylkäs K, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, See MH, Southey MC, Swerdlow A, Teo SH, Toland AE, Tomlinson I, Truong T, van Asperen CJ, van den Ouweland AMW, van der Kolk L, Winqvist R, Yannoukakos D, Zheng W; kConFab/AOCS Investigators, Dunning AM, Easton DF, Henderson A, Hogervorst F, Izatt L, Offitt K, Side LE, van Rensburg EJ, Embrace S, Hebon S, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Goldgar DE, de la Hoya M, Radice P.
    • Hum Mutat. 2018 May;39(5):729-741. doi: 10.1002/humu.23411. Epub 2018 Apr 6.
    • Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
    • Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E.
    • Hum Genome Var. 2018 Apr 20;5:2. doi: 10.1038/s41439-018-0003-0. eCollection 2018.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
    • Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
    • Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3.
    • Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
    • Suarez-Kelly LP, Akagi K, Reeser JW, Samorodnitsky E, Reeder M, Smith A, Roychowdhury S, Symer DE, Carson WE.
    • Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002352. doi: 10.1101/mcs.a002352. Print 2018 Apr.
    • Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition.
    • Dos Santos ES, Caputo SM, Castera L, Gendrot M, Briaux A, Breault M, Krieger S, Rogan PK, Mucaki EJ, Burke LJ; ENIGMA consortium, Bièche I, Houdayer C, Vaur D, Stoppa-Lyonnet D, Brown MA, Lallemand F, Rouleau E.
    • Breast Cancer Res Treat. 2018 Apr;168(2):311-325. doi: 10.1007/s10549-017-4602-0. Epub 2017 Dec 13.
    • Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
    • Yang C, Jairam S, Amoroso KA, Robson ME, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2018 Apr;168(2):543-550. doi: 10.1007/s10549-017-4595-8. Epub 2017 Nov 28.
    • Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2, allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
    • Baert A, Machackova E, Coene I, Cremin C, Turner K, Portigal-Todd C, Asrat MJ, Nuk J, Mindlin A, Sean Y, MacMillan A, Van Maerken T, Trbusek M, McKinnon W, Wood ME, Foulkes WD, Santamariña M, de la Hoya M, Foretova L, Poppe B, Vral A, Rosseel T, De Leeneer K, Vega A, Claes KBM.
    • Hum Mutat. 2018 Apr;39(4):515-526. doi: 10.1002/humu.23390. Epub 2018 Jan 22.
    • BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.
    • Davide B, Francesca M, Valeria P, Irene F, Bernardo B.
    • Oncol Lett. 2018 Mar;15(3):3329-3332. doi: 10.3892/ol.2017.7711. Epub 2017 Dec 28.
    • With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.
    • fMester JL, Hruska KS.
    • JCO Precis Oncol. 2018 Feb 23;2018. doi: 10.1200/PO.17.00280. Epub 2018 Feb 23.

    Related:

    PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.

    • Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    • Guidugli L, Shimelis H, Masica DL, Pankratz VS, Lipton GB, Singh N, Hu C, Monteiro ANA, Lindor NM, Goldgar DE, Karchin R, Iversen ES, Couch FJ.
    • Am J Hum Genet. 2018 Feb 1;102(2):233-248. doi: 10.1016/j.ajhg.2017.12.013. Epub 2018 Jan 25.
    • No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis.
    • Dutil J, Godoy L, Rivera-Lugo R, Arroyo N, Albino E, Negrón L, Monteiro AN, Matta JL, Echenique M.
    • Genet Test Mol Biomarkers. 2018 Feb;22(2):85-89. doi: 10.1089/gtmb.2017.0187. Epub 2018 Jan 22.
    • Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.
    • Choi MC, Jang JH, Jung SG, Park H, Joo WD, Song SH, Lee C, Lee JH.
    • Int J Gynecol Cancer. 2018 Feb;28(2):308-315. doi: 10.1097/IGC.0000000000001161.
    • Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications.
    • de Mayo T, Ziegler A, Morales S, Jara L.
    • Int J Mol Sci. 2018 Jan 22;19(1). pii: E321. doi: 10.3390/ijms19010321.
    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
    • Palmirotta R, Lovero D, Stucci LS, Silvestris E, Quaresmini D, Cardascia A, Silvestris F.
    • Int J Mol Sci. 2018 Jan 18;19(1). pii: E285. doi: 10.3390/ijms19010285.
    • Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
    • Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Hered Cancer Clin Pract. 2018 Jan 15;16:4. doi: 10.1186/s13053-018-0086-0. eCollection 2018.
    • CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort.
    • Stuebs F, Heidemann S, Caliebe A, Mundhenke C, Arnold N.
    • Arch Gynecol Obstet. 2018 Jan;297(1):147-152. doi: 10.1007/s00404-017-4551-1. Epub 2017 Oct 9.
    • Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Papadopoulou E, Metaxa-Mariatou V, Tsirigoti A, Efstathiadou C, Markopoulos C, Xepapadakis G, Venizelos V, Tsiftsoglou A, Natsiopoulos I, Nasioulas G.
    • Cancer Genet. 2018 Jan;220:1-12. doi: 10.1016/j.cancergen.2017.10.002. Epub 2017 Oct 19.
    • Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.
    • Coppa A, Nicolussi A, D'Inzeo S, Capalbo C, Belardinilli F, Colicchia V, Petroni M, Zani M, Ferraro S, Rinaldi C, Buffone A, Bartolazzi A, Screpanti I, Ottini L, Giannini G.
    • Cancer Med. 2018 Jan;7(1):46-55. doi: 10.1002/cam4.1251. Epub 2017 Dec 22.
    • Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.
    • Fam Cancer. 2018 Jan;17(1):141-153. doi: 10.1007/s10689-017-0011-0.
    • Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.
    • Hojny J, Zemankova P, Lhota F, Sevcik J, Stranecky V, Hartmannova H, Hodanova K, Mestak O, Pavlista D, Janatova M, Soukupova J, Vocka M, Kleibl Z, Kleiblova P.
    • Gene. 2017 Dec 30;637:41-49. doi: 10.1016/j.gene.2017.09.025. Epub 2017 Sep 14.
    • Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing.
    • Mundt E, Nix P, Brown K, Bowles KR, Manley S.
    • J Clin Oncol. 2017 Dec 1;35(34):3796-3799. doi: 10.1200/JCO.2017.74.5182. Epub 2017 Oct 5.
    • Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
    • de Jong LC, Cree S, Lattimore V, Wiggins GAR, Spurdle AB; kConFab Investigators, Miller A, Kennedy MA, Walker LC.
    • Breast Cancer Res. 2017 Nov 28;19(1):127. doi: 10.1186/s13058-017-0919-1.
    • The BRCA2 variant c.68-7 T>A is associated with breast cancer.
    • Møller P, Hovig E.
    • Hered Cancer Clin Pract. 2017 Nov 13;15:20. doi: 10.1186/s13053-017-0080-y. eCollection 2017.

    Related:

    Retraction of Publication:

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

    • Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
    • Parry EM, Gable DL, Stanley SE, Khalil SE, Antonescu V, Florea L, Armanios M.
    • J Thorac Oncol. 2017 Nov;12(11):1673-1678. doi: 10.1016/j.jtho.2017.08.011. Epub 2017 Aug 24.
    • Functional analysis of BRCT missense mutations in BRCA1-mutated Chinese Han familial breast cancer.
    • Zhang H, Li L, Wang Y, Yin CC, Xie Y, Liu X, Ding H, Tian Z, Shen J, He L, Xia M, Ma X, Wu L.
    • Oncol Lett. 2017 Nov;14(5):5839-5844. doi: 10.3892/ol.2017.7003. Epub 2017 Sep 19.
    • PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing.
    • Black MH, Li S, Pesaran T, LaDuca H, Karam R, Clifford J, Smith B, Pilarski R.
    • JCO Precis Oncol. 2017 Oct 9;2017. doi: 10.1200/PO.17.00108. Epub 2017 Oct 9.

    Related:

    Letter:

    With Regard to PTEN Promoter Testing for Hereditary Cancer Risk Assessment.

    • Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
    • Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S.
    • Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26.
    • Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.
    • Concolino P, Rizza R, Hackmann K, Minucci A, Scaglione GL, De Bonis M, Costella A, Zuppi C, Schrock E, Capoluongo E.
    • Mol Diagn Ther. 2017 Oct;21(5):539-545. doi: 10.1007/s40291-017-0288-6.
    • Case report
    • Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
    • Gayarre J, Martín-Gimeno P, Osorio A, Paumard B, Barroso A, Fernández V, de la Hoya M, Rojo A, Caldés T, Palacios J, Urioste M, Benítez J, García MJ.
    • Br J Cancer. 2017 Sep 26;117(7):1048-1062. doi: 10.1038/bjc.2017.286. Epub 2017 Aug 22.
    • Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
    • Foo TK, Tischkowitz M, Simhadri S, Boshari T, Zayed N, Burke KA, Berman SH, Blecua P, Riaz N, Huo Y, Ding YC, Neuhausen SL, Weigelt B, Reis-Filho JS, Foulkes WD, Xia B.
    • Oncogene. 2017 Jul 20;36(29):4161-4170. doi: 10.1038/onc.2017.46. Epub 2017 Mar 20.
    • Next-Generation Sequencing in Order to Better Characterize a BRCA Variant of Uncertain Significance.
    • Sorscher S, Ramkissoon S.
    • Case Rep Oncol. 2017 Jul 11;10(2):634-637. doi: 10.1159/000478005. eCollection 2017 May-Aug.
    • Clinically Significant Unclassified Variants in BRCA1 and BRCA2 Genes Among Korean Breast Cancer Patients.
    • Yoon KA, Park B, Lee BI, Yang MJ, Kong SY, Lee ES.
    • Cancer Res Treat. 2017 Jul;49(3):627-634. doi: 10.4143/crt.2016.292. Epub 2016 Sep 13.
    • Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.
    • Marafie MJ, Dashti M, Al-Mulla F.
    • Fam Cancer. 2017 Jul;16(3):389-394. doi: 10.1007/s10689-016-9954-9.
    • Case report
    • HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
    • Pinheiro M, Drigo SA, Tonhosolo R, Andrade SC, Marchi FA, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Oncotarget. 2017 Jun 20;8(25):40896-40905. doi: 10.18632/oncotarget.16639.
    • BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
    • Shimelis H, Mesman RLS, Von Nicolai C, Ehlen A, Guidugli L, Martin C, Calléja FMGR, Meeks H, Hallberg E, Hinton J, Lilyquist J, Hu C, Aalfs CM, Aittomäki K, Andrulis I, Anton-Culver H, Arndt V, Beckmann MW, Benitez J, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Brauch H, Brennan P, Brenner H, Broeks A, Brouwers B, Brüning T, Burwinkel B, Chang-Claude J, Chenevix-Trench G, Cheng CY3, Choi JY, Collée JM, Cox A, Cross SS, Czene K, Darabi H, Dennis J, Dörk T, Dos-Santos-Silva I, Dunning AM, Fasching PA, Figueroa J, Flyger H, García-Closas M, Giles GG, Glendon G, Guénel P, Haiman CA, Hall P, Hamann U, Hartman M, Hogervorst FB, Hollestelle A, Hopper JL, Ito H, Jakubowska A, Kang D, Kosma VM, Kristensen V, Lai KN, Lambrechts D, Marchand LL, Li J, Lindblom A, Lophatananon A, Lubinski J, Machackova E, Mannermaa A, Margolin S, Marme F, Matsuo K, Miao H, Michailidou K, Milne RL, Muir K, Neuhausen SL, Nevanlinna H, Olson JE, Olswold C, Oosterwijk JJC, Osorio A, Peterlongo P, Peto J, Pharoah PDP, Pylkäs K, Radice P, Rashid MU, Rhenius V, Rudolph A, Sangrajrang S, Sawyer EJ, Schmidt MK, Schoemaker MJ, Seynaeve C, Shah M, Shen CY, Shrubsole M, Shu XO, Slager S, Southey MC, Stram DO, Swerdlow A, Teo SH, Tomlinson I, Torres D, Truong T, van Asperen CJ, van der Kolk LE, Wang Q, Winqvist R, Wu AH, Yu JC, Zheng W, Zheng Y, Leary J, Walker L, Foretova L, Fostira F, Claes KBM, Varesco L, Moghadasi S, Easton DF, Spurdle A, Devilee P, Vrieling H, Monteiro ANA, Goldgar DE, Carreira A, Vreeswijk MPG, Couch FJ; for kConFab/AOCS Investigators; for NBCS Collaborators.
    • Cancer Res. 2017 Jun 1;77(11):2789-2799. doi: 10.1158/0008-5472.CAN-16-2568. Epub 2017 Mar 10.
    • Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
    • Ryu JM, Kang G, Nam SJ, Kim SW, Yu J, Lee SK, Bae SY, Park S, Paik HJ, Kim JW, Park SS, Lee JE, Kim SW.
    • Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.
    • Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.
    • Byrjalsen A, Steffensen AY, Hansen TVO, Wadt K, Gerdes AM.
    • Clin Case Rep. 2017 Apr 22;5(6):876-879. doi: 10.1002/ccr3.944. eCollection 2017 Jun.
    • BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.
    • Zuntini R, Cortesi L, Calistri D, Pippucci T, Luigi Martelli P, Casadio R, Capizzi E, Santini D, Miccoli S, Medici V, Danesi R, Marchi I, Zampiga V, Fiorentino M, Ferrari S, Turchetti D.
    • Oncotarget. 2017 Apr 4;8(14):22640-22648. doi: 10.18632/oncotarget.15151.
    • Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    • Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.
    • PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691. eCollection 2017 Mar.
    • Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.
    • Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S, Yip CH, Mohd Taib NA, Teo SH.
    • BMC Cancer. 2017 Feb 22;17(1):149. doi: 10.1186/s12885-017-3099-6.
    • Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.
    • van der Merwe N, Peeters AV, Pienaar FM, Bezuidenhout J, van Rensburg SJ, Kotze MJ.
    • Int J Mol Sci. 2017 Feb 22;18(2). pii: E467. doi: 10.3390/ijms18020467.
    • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
    • Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M.
    • Fam Cancer. 2017 Jan;16(1):1-16. doi: 10.1007/s10689-016-9916-2.
    • GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.
    • Schubert S, Ripperger T, Rood M, Petkidis A, Hofmann W, Frye-Boukhriss H, Tauscher M, Auber B, Hille-Betz U, Illig T, Schlegelberger B, Steinemann D.
    • Genes Cancer. 2017 Jan;8(1-2):472-483. doi: 10.18632/genesandcancer.132.
    • New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.
    • Cherdyntseva N, Gervas P, Voropaeva E, Denisov E, Pisareva L, Malinovskaya E, Maksimov V, Voevoda M, Perinov D, Panferova Y, Cherdyntsev E, Choynzonov E.
    • Cancer Biomark. 2017;18(3):291-296. doi: 10.3233/CBM-161649.
    • A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
    • Esposito MV, Nunziato M, Starnone F, Telese A, Calabrese A, D'Aiuto G, Pucci P, D'Aiuto M, Baralle F, D'Argenio V, Salvatore F.
    • Int J Mol Sci. 2016 Dec 21;17(12). pii: E2145. doi: 10.3390/ijms17122145.
    • Revisiting the morbid genome of Mendelian disorders.
    • Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS.
    • Genome Biol. 2016 Nov 24;17(1):235.
    • The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
    • Catucci I, Radice P, Milne RL, Couch FJ, Southey MC, Peterlongo P.
    • Breast Cancer Res. 2016 Nov 9;18(1):111.
    • A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer.
    • Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K.
    • Cancer Discov. 2016 Nov;6(11):1267-1275. Epub 2016 Sep 21.
    • In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
    • Rodríguez-Balada M, Roig B, Martorell L, Melé M, Salvat M, Vilella E, Borràs J, Gumà J.
    • Cancer Genet. 2016 Nov;209(11):487-492. doi: 10.1016/j.cancergen.2016.09.003. Epub 2016 Sep 20.
    • A second DNA binding site in human BRCA2 promotes homologous recombination.
    • von Nicolai C, Ehlén Å, Martin C, Zhang X, Carreira A.
    • Nat Commun. 2016 Sep 15;7:12813. doi: 10.1038/ncomms12813.
    • Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.
    • Hilbers FS, Luijsterburg MS, Wiegant WW, Meijers CM, Völker-Albert M, Boonen RA, van Asperen CJ, Devilee P, van Attikum H.
    • Hum Mutat. 2016 Sep;37(9):914-25. doi: 10.1002/humu.23019. Epub 2016 Jun 17.

    Related:

    In This Issue:

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

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

    Related:

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

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

    Related:

    Editorial

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

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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 c.9976A>T classification

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

    Related:

    Research Highlight

    RNA: Exonic splicing mutation prevalence.

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

    Related:

    Press: Feature: Peering into my genome (Science)

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

    Related:

    Case report:

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

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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 deleterious mutation plus VUS on exon 9

    Commentary

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

    • Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing.
    • Towler WI, Zhang J, Ransburgh DJ, Toland AE, Ishioka C, Chiba N, Parvin JD.
    • Hum Mutat. 2013 Mar;34(3):439-445. doi: 10.1002/humu.22251. Epub 2012 Dec 12.
    • Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
    • Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.
    • PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.
    • Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.
    • Litim N, Labrie Y, Desjardins S, Ouellette G, Plourde K, Belleau P; INHERIT BRCAs, Durocher F.
    • Mol Oncol. 2013 Feb;7(1):85-100. doi: 10.1016/j.molonc.2012.08.002. Epub 2012 Sep 11.
    • A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
    • Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler R, Domchek S, Nathanson K, Radice P, Singer C, Tonin PN, Lindor NM, Goldgar DE, Couch FJ.
    • Cancer Res. 2013 Jan 1;73(1):265-75. doi: 10.1158/0008-5472.CAN-12-2081. Epub 2012 Oct 29.
    • Support of the 'fallopian tube hypothesis' in a prospective series of risk-reducing salpingo-oophorectomy specimens.
    • Reitsma W, de Bock GH, Oosterwijk JC, Bart J, Hollema H, Mourits MJ.
    • Eur J Cancer. 2013 Jan;49(1):132-41. doi: 10.1016/j.ejca.2012.07.021. Epub 2012 Aug 21.
    • RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.
    • Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F.
    • PLoS One. 2012;7(12):e52374. doi: 10.1371/journal.pone.0052374. Epub 2012 Dec 27.
    • Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
    • Wappenschmidt B, Becker AA, Hauke J, Weber U, Engert S, Köhler J, Kast K, Arnold N, Rhiem K, Hahnen E, Meindl A, Schmutzler RK.
    • PLoS One. 2012;7(12):e50800. doi: 10.1371/journal.pone.0050800. Epub 2012 Dec 11.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
    • Brewster BL, Rossiello F, French JD, Edwards SL, Wong M, Wronski A, Whiley P, Waddell N, Chen X, Bove B, Kconfab, Hopper JL, John EM, Andrulis I, Daly M, Volorio S, Bernard L, Peissel B, Manoukian S, Barile M, Pizzamiglio S, Verderio P, Spurdle AB, Radice P, Godwin AK, Southey MC, Brown MA, Peterlongo P.
    • Hum Mutat. 2012 Dec;33(12):1665-75. doi: 10.1002/humu.22159. Epub 2012 Aug 2.
    • Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
    • Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.
    • J Med Genet. 2012 Oct;49(10):609-17. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.
    • Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
    • Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK.
    • Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7.
    • Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
    • Lu W, Wang X, Lin H, Lindor NM, Couch FJ.
    • Fam Cancer. 2012 Sep;11(3):381-5. doi: 10.1007/s10689-012-9523-9.
    • Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
    • Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
    • Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

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

    • Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.
    • Cortesi L, De Nicolo A, Medici V, Marino M, Turchetti D, Pradella LM, Rossi G, Parisini E, Federico M.
    • Breast Cancer Res Treat. 2012 Jul;134(1):435-41. doi: 10.1007/s10549-012-2052-2. Epub 2012 Apr 22.
    • Detection of exon skipping events in BRCA1 RNA using MLPA kit P002.
    • Brandão RD, Tserpelis D, Gómez García E, Blok MJ.
    • Mol Biol Rep. 2012 Jul;39(7):7429-33. doi: 10.1007/s11033-012-1575-2. Epub 2012 Feb 17.
    • Response to DNA damage of CHEK2 missense mutations in familial breast cancer.
    • Roeb W, Higgins J, King MC.
    • Hum Mol Genet. 2012 Jun 15;21(12):2738-44. doi: 10.1093/hmg/dds101. Epub 2012 Mar 13.
    • Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.
    • Rath MG, Fathali-Zadeh F, Langheinz A, Tchatchou S, Voigtländer T, Heil J, Golatta M, Schott S, Drasseck T, Behnecke A, Burgemeister AL, Evers C, Bugert P, Junkermann H, Schneeweiss A, Bartram CR, Sohn C, Sutter C, Burwinkel B.
    • Breast Cancer Res Treat. 2012 Jun;133(2):725-34. doi: 10.1007/s10549-011-1917-0. Epub 2012 Jan 8.
    • Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
    • Acedo A, Sanz DJ, Durán M, Infante M, Pérez-Cabornero L, Miner C, Velasco EA.
    • Breast Cancer Res. 2012 May 25;14(3):R87.
    • The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.
    • Sevcik J, Falk M, Kleiblova P, Lhota F, Stefancikova L, Janatova M, Weiterova L, Lukasova E, Kozubek S, Pohlreich P, Kleibl Z.
    • Cell Signal. 2012 May;24(5):1023-30. doi: 10.1016/j.cellsig.2011.12.023. Epub 2012 Jan 3.
    • Germline RAD51C mutations confer susceptibility to ovarian cancer.
    • Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K; Breast Cancer Susceptibility Collaboration (BCSC) (UK), Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N.
    • Nat Genet. 2012 Apr 26;44(5):475-6. doi: 10.1038/ng.2224.
    • Letter

    Related:

    Letter:

    Germline RAD51C mutations confer susceptibility to ovarian cancer.

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

    Related:

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

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

    Related:

    Research:

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

    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.
    • Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders.
    • Vreeswijk MP, van der Klift HM.
    • Methods Mol Biol. 2012;867:49-63. doi: 10.1007/978-1-61779-767-5_4.