For HBOC-related or -suspected cancers other than "breast cancer". Includes studies concerning: isolated subtypes of breast cancer (e.g. lobular breast cancer, triple-negative breast cancer, etc.), and ovarian cancer alone or isolated subtypes of ovarian cancer, and "other" cancers that may appear to be associated with HBOC (or have simply been reported in individuals or families with HBOC mutations or a breast or ovarian cancer family history). For mutation spectrum associated with prostate cancer, see the dedicated section, HBOC-Related Prostate Cancer Mutation Spectrum.
List was last updated on
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- A de novo ERBB3 mutation resulted in Olaparib resistance after successful conversion therapy for a GBC patient bearing BRCA1 mutation.
- Yang JX, Jia ZY, Liu FT, Wu WG, Li XC, Zou L, Li HF, Zhang F, Bao RF, Peng SY, Lau WY, Liu Y, Li ML, Liu YB.
- Front Oncol. 2023 Feb 20;13:1078388. doi: 10.3389/fonc.2023.1078388.
- Case report
- Free Full Text
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- Das familiäre Pankreaskarzinomsyndrom [Familial pancreatic cancer syndrome].
- Seifert L, Weitz J.
- Chirurgie (Heidelb). 2023 Feb 17. German. doi: 10.1007/s00104-023-01819-8. Epub ahead of print.
- PMID: 36799964
- PubMed abstract
- Source abstract
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- Updates in Gynecologic Care for Individuals with Lynch Syndrome.
- Underkofler KA, Ring K.
- Front Oncol. 2023 Feb 16;13:1127683. doi: 10.3389/fonc.2023.1127683.
- Review
- Free Full Text
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- Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.
- Würtemberger J, Ripperger T, Vokuhl C, Bauer S, Teichert-von Lüttichau I, Wardelmann E, Niemeyer C, Kratz CP, Schlegelberger B, Hettmer S.
- Eur J Med Genet. 2023 Feb 8:104718. doi: 10.1016/j.ejmg.2023.104718. Epub ahead of print.
- PMID: 36764384
- PubMed abstract
- Source abstract
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- Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
- Zou W, Zhang Q, Sun R, Li X, He S.
- Cancer Epidemiol. 2023 Feb 7;83:102333. doi: 10.1016/j.canep.2023.102333. Epub ahead of print.
- PMID: 36758349
- PubMed abstract
- Source abstract
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- 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.
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- BRCA1/2 pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature.
- Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Fabas T, Tallet A, Kubiniek V, Pedeutour F, Dadone-Montaudié B.
- J Invest Dermatol. 2023 Feb 6:S0022-202X(23)00068-4. doi: 10.1016/j.jid.2023.01.014. Epub ahead of print.
- PMID: 36754117
- PubMed abstract
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- Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
- Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
- J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.
- PMID: 36744932
- PubMed abstract
- Source abstract
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- Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
- Yamai T, Ikezawa K, Sugimoto N, Urabe M, Kai Y, Takada R, Nakabori T, Uehara H, Kawamura T, Kunimasa K, Yamamoto S, Wakamatsu T, Hayashi T, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Yamasaki T, Honma K, Ohkawa K.
- Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.
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- Atypical ATMs: Broadening the Phenotypic Spectrum of ATM-associated Hereditary Cancer.
- Borja NA, Silva-Smith R, Huang M, Parekh DJ, Sussman D, Tekin M.
- Front Oncol. 2023 Feb 3;13:1068110. doi: 10.3389/fonc.2023.1068110.
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- Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
- Andrés-Zayas C, Suárez-González J, Chicano-Lavilla M, Bastos Oreiro M, Rodríguez-Macías G, Font López P, Osorio Prendes S, Oarbeascoa Royuela G, García Ramírez P, Nieves Salgado R, Gómez-Centurión I, Carbonell Muñoz D, Muñiz P, Kwon M, Díez-Martín JL, Buño I, Martínez-Laperche C.
- Cancers (Basel). 2023 Feb 2;15(3):944. doi: 10.3390/cancers15030944.
- PMID: 36765901
- PubMed abstract
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- Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.
- Lehman B, Matthäi E, Gercke N, Denzer UW, Figiel J, Hess T, Slater EP, Bartsch DK.
- Fam Cancer. 2023 Jan 31. doi: 10.1007/s10689-023-00328-1. Epub ahead of print.
- PMID: 36717525
- PubMed abstract
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- A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
- Radulovic I, Schündeln MM, Müller L, Ptok J, Honisch E, Niederacher D, Wiek C, Scheckenbach K, Leblanc T, Larcher L, Soulier J, Reinhardt D, Schaal H, Andreassen PR, Hanenberg H.
- Hum Mol Genet. 2023 Jan 31:ddad017. doi: 10.1093/hmg/ddad017. Epub ahead of print.
- PMID: 36721989
- PubMed abstract
- Source abstract
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- Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
- Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
- Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.
- PMID: 36717774
- PubMed abstract
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- Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
- Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
- Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
- Case report
- Free Full Text
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- Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer.
- Liu J, Mroczek M, Mach A, Stępień M, Aplas A, Pronobis-Szczylik B, Bukowski S, Mielczarek M, Gajewska E, Topolski P, Król ZJ, Szyda J, Dobosz P.
- Cancers (Basel). 2023 Jan 27;15(3):779. doi: 10.3390/cancers15030779.
- Review
- Free Full Text
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- Das hereditäre diffuse Magenkarzinom [Hereditary diffuse gastric cancer].
- Knipper K, Fuchs HF, Alakus H, Bruns CJ, Schmidt T.
- Chirurgie (Heidelb). 2023 Jan 26. German. doi: 10.1007/s00104-023-01806-z. Epub ahead of print.
- PMID: 36700973
- PubMed abstract
- Source abstract
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- Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
- Rifkin AS, Less EM, Wei J, Shi Z, Zheng SL, Helfand BT, Hulick PJ, Krantz SB, Xu J.
- Clin Lung Cancer. 2023 Jan 26:S1525-7304(23)00009-8. doi: 10.1016/j.cllc.2023.01.005. Epub ahead of print.
- PMID: 36781323
- PubMed abstract
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- Poor response to sintilimab plus chemotherapy in a pulmonary epithelioid hemangioendothelioma patient: a case report.
- Zeng H, Tang X, Tian X, Liu Y, Tian P.
- Immunotherapy. 2023 Jan 25. doi: 10.2217/imt-2022-0073. Epub ahead of print.
- PMID: 36695105
- PubMed abstract
- Source abstract
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- Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
- McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE.
- Clin Cancer Res. 2023 Jan 24:ccr.22.2482. doi: 10.1158/1078-0432.CCR-22-2482. Epub ahead of print.
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- 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.
- PMID: 36689509
- PubMed abstract
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- Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
- Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
- Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
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- Importance of timely genetics services and critical evaluation of diagnosis and reported family history when assessing for hereditary cancer syndromes. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
- Malca S.
- Fam Cancer. [P-08: Case Reports» Case Series on any topic.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
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- Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
- Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
- Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
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- Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
- Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
- Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.
- PMID: 36755949
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- 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.
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- Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
- Han S, Camp SY, Chu H, Collins R, Gillani R, Park J, Bakouny Z, Ricker CA, Reardon B, Moore N, Kofman E, Labaki C, Braun D, Choueiri TK, AlDubayan SH, Van Allen EM.
- medRxiv [Preprint]. 2023 Jan 19:2023.01.18.23284664. doi: 10.1101/2023.01.18.23284664.
- PMID: 36712083
- PubMed abstract
- Source abstract
- Preprint
- Free PMC article
- Free Full Text (PDF)
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- PARP inhibition utilized in combination therapy with Olaparib-Temozolomide to achieve disease stabilization in a rare case of BRCA1-mutant, metastatic myxopapillary ependymoma.
- Mahalingam P, Smith S, Lopez J, Sharma RK, Millard T, Thway K, Fisher C, Reardon DA, Jones R, Nicholson AG, Cunningham D, Welsh L, Sharma B.
- Rare Tumors. 2023 Jan 19;15:20363613231152333. doi: 10.1177/20363613231152333.
- PMID: 36698626
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
- Debbabi I, Vacher S, Neuzillet C, Cros J, Revillon F, Petitalot A, Turpin A, Antonio S, Girard E, Dupain C, Kamal M, Hammel P, Bièche I, Masliah-Planchon J, Caputo SM.
- Ther Adv Med Oncol. 2023 Jan 18;15:17588359221146132. doi: 10.1177/17588359221146132.
- PMID: 36700131
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
- Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
- Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.
- PMID: 36653279
- PubMed abstract
- Source abstract
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- The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
- Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
- Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
- PMID: 36634123
- PubMed abstract
- Source abstract
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- Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
- Zhang C, Zhu D, Qu Y, Shi M, Ma J, Peng Y, Zhu B, Tao H, Ma T, Hou T.
- J Med Genet. 2023 Jan 10:jmg-2022-108816. doi: 10.1136/jmg-2022-108816. Epub ahead of print.
- PMID: 36627197
- PubMed abstract
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- Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue.
- Yang P, Xu N, Su Y, Duan C, Wang S, Fu L, Yu T, Guo R, Ma X.
- Front Oncol. 2023 Jan 4;12:934882. doi: 10.3389/fonc.2022.934882.
- PMID: 36686750
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
- Mandelker D, Marra A, Mehta N, Selenica P, Yelskaya Z, Yang C, Somar J, Mehine M, Misyura M, Basturk O, Latham A, Carlo M, Walsh M, Stadler ZK, Offit K, Bandlamudi C, Hameed M, Chi P, Reis-Filho JS, Ceyhan-Birsoy O.
- NPJ Precis Oncol. 2023 Jan 2;7(1):1. doi: 10.1038/s41698-022-00342-z.
- PMID: 36593350
- PubMed abstract
- [HBOC negative result]
- Free Full Text
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- Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.
- Subaşıoğlu A, Güç ZG, Gür EÖ, Tekindal MA, Atahan MK.
- Eur J Breast Health. 2023 Jan 1;19(1):55-69. doi: 10.4274/ejbh.galenos.2022.2022-7-2.
- PMID: 36605468
- PubMed abstract
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- Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
- Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
- JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
- PMID: 36505034
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Outcomes of Universal Point-of-Care Genetic Testing in Diverse Patients With Pancreatic Ductal Adenocarcinoma.
- Drogan CM, Kindler HL, Gao G, Kupfer SS.
- JCO Precis Oncol. 2023 Jan;7:e2200196. doi: 10.1200/PO.22.00196.
- PMID: 36689696
- PubMed abstract
- Source abstract
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- Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
- Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
- Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.
- PMID: 36720553
- PubMed abstract
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- Frequency of serous tubal intraepithelial carcinoma (STIC) in patients with high grade serous ovarian cancer.
- Byun JM, Cho HJ, Lee DS, Yoon HK, Kim YN, Im DH, Kim DH, Lee KB, Sung MS, Jeong DH.
- Taiwan J Obstet Gynecol. 2023 Jan;62(1):107-111. doi: 10.1016/j.tjog.2022.09.006.
- PMID: 36720520
- PubMed abstract
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- Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
- Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
- Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.
- PMID: 36581488
- PubMed abstract
- Source abstract
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- The therapeutic relevance of a BRCA2 mutation in a patient with recurrent thymoma: a case report.
- Sigurdson S, Marom EM, Rimner A, Shepherd A, Szolkowska M, Roden AC, Marino M, Tomiyama N, Ball D, Falkson C, Rajan A.
- Mediastinum. 2022 Dec 25;6:40. doi: 10.21037/med-22-9.
- PMID: 36582974
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
- Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
- Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.
- PMID: 36630951
- PubMed abstract
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- Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
- Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
- Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.
- PMID: 36544278
- PubMed abstract
- Source abstract
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- Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.
- Hosseini S, Acar A, Sen M, Meeder K, Singh P, Yin K, Sutton JM, Hughes K.
- Ann Surg Oncol. 2022 Dec 17. doi: 10.1245/s10434-022-12829-x. Epub ahead of print.
- PMID: 36528743
- PubMed abstract
- Source abstract
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- Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
- Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
- Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.
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- Case report: Olaparib as an experimental therapy in a BRCA2-mutated patient with metastatic ovarian adenocarcinoma that originated from liver cancer.
- Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
- Front Oncol. 2022 Dec 12;12:1010158. doi: 10.3389/fonc.2022.1010158.
- Case report
- Free Full Text
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- 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.
- PMID: 36367123
- PubMed abstract
- Source abstract
- Case report
- Free Full Text
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- RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- Evans DG, Woodward ER.
- J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.
- PMID: 36495190
- PubMed abstract
- Source abstract
- Letter, Commentary
- Free Full Text (PDF)
•• Letter, Reply:
Reply to Evans and Woodward.
- PMID: 36495208
- PubMed abstract
- Source abstract
•• Original research:
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- PMID: 35980168
- PubMed abstract
- Free Full Text
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- Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
- Matsubayashi H, Todaka A, Kawakami T, Hamauchi S, Yokota T, Higashigawa S, Kiyozumi Y, Harada R, Kado N, Nishimura S, Ishiwatari H, Sato J, Niiya F, Ono H, Sugiura T, Sasaki K, Yasui H, Yamazaki K.
- J Hum Genet. 2022 Dec 8. doi: 10.1038/s10038-022-01097-y. Epub ahead of print.
- PMID: 36482120
- PubMed abstract
- Source abstract
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- Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
- Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
- World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.
- PMID: 36533108
- PubMed abstract
- Source abstract
- Case report
- Free PMC article
- Free Full Text
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- Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
- Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
- EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.
- PMID: 36493725
- PubMed abstract
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- Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
- Liu Y, Zhu J, Wei X, Yang D, Li S, Qian X, Li L.
- J Ovarian Res. 2022 Dec 3;15(1):127. doi: 10.1186/s13048-022-01069-y.
- PMID: 36463302
- PubMed abstract
- Case report
- Free Full Text
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- NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
- Jung K, Lee S, Na HY, Kim JW, Lee JC, Hwang JH, Kim JW, Kim J.
- Sci Rep. 2022 Dec 3;12(1):20937. doi: 10.1038/s41598-022-24732-2.
- PMID: 36463295
- PubMed abstract
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- Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
- Buckley KH, Niccum BA, Maxwell KN, Katona BW.
- Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.
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- Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
- Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
- JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.
- PMID: 36484990
- PubMed abstract
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- The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
- Garsed DW, Pandey A, Fereday S, Kennedy CJ, Takahashi K, Alsop K, Hamilton PT, Hendley J, Chiew YE, Traficante N, Provan P, Ariyaratne D, Au-Yeung G, Bateman NW, Bowes L, Brand A, Christie EL, Cunningham JM, Friedlander M, Grout B, Harnett P, Hung J, McCauley B, McNally O, Piskorz AM, Saner FAM, Vierkant RA, Wang C, Winham SJ, Pharoah PDP, Brenton JD, Conrads TP, Maxwell GL, Ramus SJ, Pearce CL, Pike MC, Nelson BH, Goode EL, DeFazio A, Bowtell DDL.
- Nat Genet. 2022 Dec 1:1-9. doi: 10.1038/s41588-022-01230-9. Epub ahead of print.
•• Research news: Study Unearths Features Found in Long-Term Survivors of Advanced Ovarian Cancer. (GenomeWeb)
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- Germline pathogenic variants associated with ovarian cancer: A historical overview.
- Johansen EL, Thusgaard CF, Thomassen M, Boonen SE, Jochumsen KM.
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- Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
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- CHEK2 Pathogenic Germline Variants in Patients With NSCLC.
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- The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
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- Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004–2019.
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- 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.
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- Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
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- Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.
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- Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
- Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
- Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.
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- UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
- Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
- J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
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- Olaparib as an Experimental Therapy in a BRCA2-mutated Patient with Metastatic Ovarian Adenocarcinoma Originated from Liver Cancer.
- Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
- Front Oncol. 2022 Nov 18;12:1010158. doi: 10.3389/fonc.2022.1010158.
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- Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.
- Badheeb M, Abdelrahim A, Esmail A, Umoru G, Abboud K, Al-Najjar E, Rasheed G, Alkhulaifawin M, Abudayyeh A, Abdelrahim M.
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- Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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- J Natl Cancer Inst. 2022 Nov 14;114(11):1523-1532. doi: 10.1093/jnci/djac151.
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•• Letter, Commentary:
RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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•• Letter, Reply:
Reply to Evans and Woodward.
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- The Genetics of Pancreatic Cancer
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- Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
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- Comparing Characteristics of Pelvic High-grade Serous Carcinomas with and without Breast Cancer Gene Variants on MR Imaging.
- Saida T, Shikama A, Mori K, Ishiguro T, Minaguchi T, Satoh T, Nakajima T.
- Magn Reson Med Sci. 2022 Nov 12. doi: 10.2463/mrms.mp.2022-0061. Epub ahead of print.
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- A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.
- Kechin A, Boyarskikh U, Barinov A, Tanas A, Kazakova S, Zhevlova A, Khrapov E, Subbotin S, Mishukova O, Kekeeva T, Demidova I, Filipenko M.
- Breast Cancer Res Treat. 2022 Nov 11. doi: 10.1007/s10549-022-06782-2. Epub ahead of print.
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- Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
- Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
- Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.
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- Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
- Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
- JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.
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- Molecular Management of High-Grade Serous Ovarian Carcinoma.
- Punzón-Jiménez P, Lago V, Domingo S, Simón C, Mas A.
- Int J Mol Sci. 2022 Nov 9;23(22):13777. doi: 10.3390/ijms232213777.
- Review
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- The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021.
- Roht L, Tooming M, Rekker K, Roomere H, Toome K, Murumets Ü, Šamarina U, Õunap K, Kahre T.
- Front Genet. 2022 Nov 8;12:1020543. doi: 10.3389/fgene.2022.1020543.
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- Overview of familial syndromes with increased skin malignancies.
- Juan HY, Zhou AE, Hoegler KM, Khachemoune A.
- Arch Dermatol Res. 2022 Nov 7. doi: 10.1007/s00403-022-02447-8. Epub ahead of print.
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- Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
- Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
- ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.
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- Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
- Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
- Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.
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- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
- Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ.
- Int J Cancer. 2022 Nov 1;151(9):1626-1639. doi: 10.1002/ijc.34165. Epub 2022 Jul 6.
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- Meta-Analysis
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- Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
- Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
- Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
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- A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.
- Naiki T, Naiki-Ito A, Kawai T, Komatsu H, Nishikawa R, Gonda M, Aoki M, Sugiyama Y, Tasaki Y, Yasui T.
- IJU Case Rep. 2022 Jun 29 [eCollection 2022 Nov];5(6):431-435. doi: 10.1002/iju5.12501.
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•• Commentary:
Editorial Comment from Dr Sekino and Dr Hinata to A case of metastatic treatment emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.
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•• Commentary:
Editorial Comment from Dr Kato to A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation by liver biopsy.
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- Prostate cancer recurring as small-cell carcinoma with a BRCA2 somatic mutation.
- Yabusaki R, Yoshimura K, Taku K, Suzuki M.
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- Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
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- JCO Precis Oncol. 2022 Nov;6:e2200145. doi: 10.1200/PO.22.00145.
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- Risk of pancreatic ductal adenocarcinoma associated with carriage of BRCA1 and/or BRCA2 mutation: A systematic review and meta-analysis.
- McGarry JL, Creavin B, Kelly ME, Gallagher TK.
- J Surg Oncol. 2022 Nov;126(6):1028-1037. doi: 10.1002/jso.26994. Epub 2022 Jun 30.
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- Characterization of lung cancers in patients with BRCA germline variants: A multicenter series.
- Sanchis-Borja M, Fallet V, Fabre E, Wislez M, Culine S, Zalcman G, Spano JP, Buffet NC, Coulet F, Benusiglio PR, Cadranel J.
- Lung Cancer. 2022 Nov;173:67-70. doi: 10.1016/j.lungcan.2022.09.002. Epub 2022 Sep 6.
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- The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
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- Dig Dis Sci. 2022 Oct 31. doi: 10.1007/s10620-022-07733-z. Epub ahead of print.
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- 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.
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- Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
- Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
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- Unusual dMMR Phenotype Locally Advanced Pancreatic Ductal Adenocarcinoma with Germline and Somatic BRCA2 Mutation in a Jehovah Witness Patient.
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- Clin Colorectal Cancer. 2022 Oct 23:S1533-0028(22)00106-2. doi: 10.1016/j.clcc.2022.10.002. Epub ahead of print.
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- APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
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- J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
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- Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
- Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
- Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.
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- MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
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- Clin Cancer Res. 2022 Oct 14;28(20):4456-4465. doi: 10.1158/1078-0432.CCR-21-4183.
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Taking the Road Less Traveled: Following Molecular Trail Markers.
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- An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
- Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
- Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
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- Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
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- J Hepatol. 2022 Oct 12:S0168-8278(22)03137-3. doi: 10.1016/j.jhep.2022.09.025. Epub ahead of print.
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- Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese.
- Wang C, Dai J, Qin N, Fan J, Ma H, Chen C, An M, Zhang J, Yan C, Gu Y, Xie Y, He Y, Jiang Y, Zhu M, Song C, Jiang T, Liu J, Zhou J, Wang N, Hua T, Liang S, Wang L, Xu J, Yin R, Chen L, Xu L, Jin G, Lin D, Hu Z, Shen H.
- Cancer Cell. 2022 Oct 10;40(10):1223-1239.e6. doi: 10.1016/j.ccell.2022.08.013. Epub 2022 Sep 15.
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Whole-genome sequencing of East Asian lung cancers reveals new germline pathogenic variants.
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- Rare germline deleterious variants increase susceptibility for lung cancer.
- Sang J, Zhang T, Kim J, Li M, Pesatori AC, Consonni D, Song L, Liu J, Zhao W, Hoang PH, Campbell DS, Feng J, D'Arcy ME, Synnott N, Chen Y, Wu Z, Zhu B, Yang XR, Brown KM, Choi J, Shi J, Landi MT.
- Hum Mol Genet. 2022 Oct 10;31(20):3558-3565. doi: 10.1093/hmg/ddac123.
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- [Molecular classification and clinicopathological features of endometrial carcinoma].
- Li WQ, Shen Y.
- Zhonghua Bing Li Xue Za Zhi. 2022 Oct 8;51(10):993-999. Chinese. doi: 10.3760/cma.j.cn112151-20220722-00639.
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- 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.
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- Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
- Carley H, Kulkarni A.
- Curr Genet Med Rep. 2022 [2022 Oct 4];10(1):1-13. doi: 10.1007/s40142-022-00203-y. Epub 2022 Oct 4.
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- Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
- Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
- Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
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- Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
- Pietzak EJ, Whiting K, Srinivasan P, Bandlamudi C, Khurram A, Joseph V, Walasek A, Bochner E, Clinton T, Almassi N, Truong H, de Jesus Escano MR, Wiseman M, Mandelker D, Kemel Y, Zhang L, Walsh MF, Cadoo KA, Coleman JA, Al-Ahmadie H, Rosenberg JE, Iyer GV, Solit DB, Ostrovnaya I, Offit K, Robson ME, Stadler ZK, Berger MF, Bajorin DF, Carlo M, Bochner BH.
- Clin Cancer Res. 2022 Oct 3;28(19):4267-4277. doi: 10.1158/1078-0432.CCR-22-1006.
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- Building on More Than 20 Years of Progress in Pancreatic Cancer Surveillance for High-Risk Individuals.
- Yurgelun MB.
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Original research:
The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.
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Original research:
Pancreatic Cancer Surveillance in Carriers of a Germline CDKN2A Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up.
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- Cribado de cáncer de páncreas en la práctica clínica: es el momento de la prevención [Pancreatic cancer screening in a clinical practice setting: it is the moment of Prevention].
- Adán-Merino L, Mora-Soler A, Zaera-De la Fuente C, Garrido-Gallego F, Crivillén-Anguita O, Ponferrada-Diaz Á.
- Rev Gastroenterol Peru. 2022 Oct-Dec;42(4):234-241. Spanish.
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- Pancreatic mixed acinar-neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report.
- Ikeda M, Miura S, Kume K, Kikuta K, Hamada S, Takikawa T, Nakagawa K, Unno M, Furukawa T, Masamune A.
- Clin J Gastroenterol. 2022 Oct;15(5):999-1005. doi: 10.1007/s12328-022-01668-8. Epub 2022 Jul 12.
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- Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
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- EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10.
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- Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
- Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR.
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- Frequent abnormal pancreas imaging in patients with pathogenic ATM, BRCA1, BRCA2, and PALB2 breast cancer susceptibility variants.
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- Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
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- Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
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- Whole-exome sequencing study of familial nasopharyngeal carcinoma and its implication for identifying high-risk individuals.
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- Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
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- A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
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- Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.
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- Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?
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- Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.
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- Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.
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- A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.
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- HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report.
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- Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines.
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- Genetic testing to guide screening for pancreatic ductal adenocarcinoma: Results of a microsimulation model.
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- Role of genetic testing in hepatic, pancreatic, and biliary cancers.
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- Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
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- Clinico-genomic characterization of ATM and HRD in Pancreas Cancer: Application for Practice.
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- Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
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- Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
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- Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
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- Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
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- Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
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- BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
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- Japanese nationwide observational multicenter study of tumor BRCA1/2 variant testing in advanced ovarian cancer.
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- Oncologists Consider Germline Testing in Lung Cancer Patients Amid New Data Showing High Prevalence.
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- Case Report: Fluzoparib for multiple lines of chemotherapy refractory in metastatic cutaneous squamous cell carcinoma with BRCA2 pathogenic mutation.
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- Prédispositions génétiques au cancer gastrique et leur association au type histologique [Hereditary gastric cancer syndromes and their association with specific histological subtypes].
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- DNA damage repair genes alterations in genito-urinary malignancies.
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- Rapid and durable response to fifth-line lorlatinib plus olaparib in an ALK-rearranged, BRCA2-mutated metastatic lung adenocarcinoma patient with critical tracheal stenosis: a case report.
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- Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
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- Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
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- Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
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- Cutaneous apocrine adenocarcinoma in a PALB2 germline pathogenic variant carrier.
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- Follicular Thyroid Cancer With Ocular Metastasis in a Patient With a Pathogenic Germline Variant in the Checkpoint Kinase 2 (CHEK2) Gene.
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- Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
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- Case Report: Sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate.
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- Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.
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- Peutz-Jeghers Syndrome.
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- Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
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- Pancreatic Ductal Carcinoma Risk Associated with Hereditary Cancer-Risk Genes.
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- Do Not Forget Poly (Adenosine Diphosphate-Ribose) Polymerase Inhibitors in Ovarian Carcinosarcoma.
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- A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
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- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.
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- BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
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- A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies.
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- Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
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- The clinical features and management of Lynch syndrome-associated ovarian cancer.
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- Germline mutations in Chinese ovarian cancer with or without breast cancer.
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- Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care.
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- EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
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- Current status of inherited pancreatic cancer.
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- Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population.
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- Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
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- Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake.
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- The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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- Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
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- Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
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- Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.
- Takahashi N, Hatakeyama K, Nagashima T, Ohshima K, Urakami K, Yamaguchi K, Hirashima Y.
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- Pancreatic cancer: Cutaneous metastases, clinical descriptors and outcomes.
- Gu L, Mehta PP, Rao D, Rotemberg V, Capanu M, Chou J, Lin S, Sigel CS, Busam KJ, Boyce L, Gordon A, O'Reilly EM.
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- Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
- Bychkovsky BL, Li T, Sotelo J, Tayob N, Mercado J, Gomy I, Chittenden A, Kane S, Stokes S, Hughes ME, Kim JS, Umeton R, Awad MM, Konstantinopoulos PA, Yurgelun MB, Wolpin BM, Taplin ME, Newmark RE, Johnson BE, Lindeman NI, MacConaill LE, Garber JE, Lin NU.
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- Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused On Genotype-Phenotype Correlation.
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- Ipilimumab/Nivolumab Therapy in Patients With Metastatic Pancreatic or Biliary Cancer With Homologous Recombination Deficiency Pathogenic Germline Variants.
- Terrero G, Datta J, Dennison J, Sussman DA, Lohse I, Merchant NB, Hosein PJ.
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- Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
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Commentary:
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Comment, Letter:
Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?
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- Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
- Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
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- Ovarian tumors and genetic predisposition.
- Štellmachová J, Vrtel P, Vrtel R, Janíková M, Kolaríková K, Procházka M, Vodicka R.
- Ceska Gynekol. 2022 Summer;87(3):211-216. English. doi: 10.48095/cccg2022211.
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- A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
- Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
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- Utility of germline multi-gene panel testing in patients with endometrial cancer.
- Karpel HC, Chern JY, Smith J M, Smith A J, Pothuri B.
- Gynecol Oncol. 2022 Jun;165(3):546-551. doi: 10.1016/j.ygyno.2022.04.003. Epub 2022 Apr 26.
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- RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma.
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- Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
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- Delayed Craniospinal Metastasis of Aggressive Nonfunctioning Pituitary Adenomas as Pituitary Carcinomas.
- Raghu ALB, Everson MC, Helal A, Kiyofuji S, Clarke MJ, Link MJ.
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- Genetic susceptibility to ovarian cancers [Oncogénétique dans les cancers de l'ovaire].
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- Endometrial Cancer and BRCA Mutations: A Systematic Review.
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- Complete response to pembrolizumab in a patient with dermatomyositis and MMR deficient ovarian cancer: A case report.
- Valls ML, Kase AM, Patel R, Wang B, Aggarwal R, Colon-Otero G.
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- Genomic features of Chinese small cell lung cancer.
- Liu J, Zhao Z, Wei S, Li B, Zhao Z.
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- Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
- Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
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- Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.
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- BRCA-Mutated Pancreatic Cancer: From Discovery to Novel Treatment Paradigms.
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- Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman Study™.
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- CDH1 germline mutations in families with hereditary lobular breast cancer.
- Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
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- Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.
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- A Review of MutSa and its Absence in Mismatch Repair Related Ovarian Carcinomas.
- Hayes A, Jaman A, Johnson E, Rausch M.
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- 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.
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- Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX.
- Campoverde LE, Batalini F, Bulushi Y, Bullock A.
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- Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.
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- Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
- Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C.
- Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
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- Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
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- Core Homologous Recombination Mutations and Improved Survival in Nonpancreatic GI Cancers.
- Tan E, Whiting J, Knepper T, Xie H, Imanirad I, Carballido E, Felder S, Frakes J, Mo Q, Permuth JB, Somerer K, Kim R, Anaya DA, Fleming JB, Walko C, Sahin IH.
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- Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
- Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
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- Extended gene panel testing in lobular breast cancer.
- van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
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- You Don’t Have a BRCA Mutation, But Could You Have Lynch Syndrome?
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- Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
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- Molecular Pathology of Pancreatic Cancer.
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- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.
- Mortlock S, Corona RI, Kho PF, Pharoah P, Seo JH, Freedman ML, Gayther SA, Siedhoff MT, Rogers PAW, Leuchter R, Walsh CS, Cass I, Karlan BY, Rimel BJ; Ovarian Cancer Association Consortium, International Endometriosis Genetics Consortium, Montgomery GW, Lawrenson K, Kar SP.
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- Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
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- BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
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- A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
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- Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
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- JCO Precis Oncol. 2021 Nov;5:1588-1602. doi: 10.1200/PO.21.00249.
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- Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
- Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, On Behalf Of The Polish Hereditary Prostate Cancer Consortium.
- Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
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- Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
- Karin W, Håkan T, Daniel N, Emma T.
- Hered Cancer Clin Pract. 2021 Oct 28;19(1):46. doi: 10.1186/s13053-021-00203-z.
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- Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.
- Li L, Chen F, Lin A, Wang D, Shi Y, Chen G.
- Comput Math Methods Med. 2021 Oct 21;2021:4854282. doi: 10.1155/2021/4854282.
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- Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
- Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL.
- JAMA Surg. 2021 Oct 13. doi: 10.1001/jamasurg.2021.5118. Epub ahead of print.
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- Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives.
- Zimmer K, Kocher F, Puccini A, Seeber A.
- Front Oncol. 2021 Oct 11;11:662055. doi: 10.3389/fonc.2021.662055.
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- Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
- Uson PLS Jr, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T.
- Clin Transl Gastroenterol. 2021 Oct 8;12(10):e00414. doi: 10.14309/ctg.0000000000000414.
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- Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation.
- Meng F, Lu L, Tan Y, Duan Q, Lu H.
- Front Oncol. 2021 Oct 4;11:757965. doi: 10.3389/fonc.2021.757965.
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- Pancreatic Acinar Cell Carcinoma with Germline BRCA2 Mutation and Severe Pancreatic Panniculitis: A Case Report.
- Dreikhausen L, Schulte N, Belle S, Weidner P, Moersdorf J, Reissfelder C, Ebert MP, Zhan T.
- Visc Med. 2021 Oct;37(5):447-450. doi: 10.1159/000515267. Epub 2021 Mar 29.
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- Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
- Wang Y, Golesworthy B, Cuggia A, Domecq C, Chaudhury P, Barkun J, Metrakos P, Asselah J, Bouganim N, Gao ZH, Chong G, Foulkes WD, Zogopoulos G.
- J Med Genet. 2021 Sep 23:jmedgenet-2021-108054. doi: 10.1136/jmedgenet-2021-108054. Epub ahead of print.
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- Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
- Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
- Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.
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- Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
- Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
- Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.
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- Hereditary pancreatic cancer.
- Abe K, Kitago M, Kitagawa Y, Hirasawa A.
- Int J Clin Oncol. 2021 Sep 2. doi: 10.1007/s10147-021-02015-6. Epub ahead of print.
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- Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer.
- Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, Hart TL, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
- Cancer. 2021 Sep 1;127(17):3082-3091. doi: 10.1002/cncr.33625. Epub 2021 May 13.
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- Homologous Recombination Deficiency Alterations in Colorectal Cancer: Clinical, Molecular, and Prognostic Implications.
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- J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.
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Research news:
Are Homologous Recombination Deficiency Mutations Relevant in Colorectal Cancer?
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- Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report.
- Li W, Ma Z, Fu X, Hao Z, Shang H, Shi J, Lei M, Xu M, Ning S, Hua X.
- Ann Transl Med. 2021 Sep;9(18):1487. doi: 10.21037/atm-21-3681.
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- Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
- Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C.
- Gynecol Oncol. 2021 Sep;162(3):686-693. doi: 10.1016/j.ygyno.2021.07.001. Epub 2021 Jul 16.
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- Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.
- Cheung M, Kadariya Y, Sementino E, Hall MJ, Cozzi I, Ascoli V, Ohar JA, Testa JR.
- Hum Mol Genet. 2021 Aug 28;30(18):1750-1761. doi: 10.1093/hmg/ddab138.
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- Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
- Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
- Cancers (Basel). 2021 Aug 24;13(17):4259. doi: 10.3390/cancers13174259.
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- Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.
- Aaquist T, Dembic M, Thomassen M, de Stricker K, Bertelsen M, Christensen LG, Mortensen MB, Detlefsen S.
- Pathol Res Pract. 2021 Aug 17;226:153590. doi: 10.1016/j.prp.2021.153590. Epub ahead of print.
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- Therapeutic Potential of PARP Inhibitors in the Treatment of Gastrointestinal Cancers.
- Alhusaini A, Cannon A, Maher SG, Reynolds JV, Lynam-Lennon N.
- Biomedicines. 2021 Aug 16;9(8):1024. doi: 10.3390/biomedicines9081024.
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- Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.
- Duzkale Teker N, Eyerci N.
- Breast Care (Basel). 2021 Aug;16(4):412-417. doi: 10.1159/000511430. Epub 2020 Oct 29.
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- Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
- Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V, Dimino A, Filorizzo C, Corsini LR, Brando C, Madonia G, Cucinella A, Scalia R, Barraco N, Guadagni F, Pedone E, Badalamenti G, Russo A, Bazan V.
- ESMO Open. 2021 Aug;6(4):100235. doi: 10.1016/j.esmoop.2021.100235. Epub 2021 Aug 7.
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- A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.
- Astiazaran-Symonds E, Goldstein AM.
- J Gastroenterol. 2021 Aug;56(8):713-721. doi: 10.1007/s00535-021-01806-y. Epub 2021 Jul 13.
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- Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
- Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
- Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
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- BRCA mutations and gastrointestinal cancers: When to expect the unexpected?
- Maccaroni E, Giampieri R, Lenci E, Scortichini L, Bianchi F, Belvederesi L, Brugiati C, Pagliaretta S, Ambrosini E, Berardi R.
- World J Clin Oncol. 2021 Jul 24;12(7):565-580. doi: 10.5306/wjco.v12.i7.565.
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- A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated with Familial Peripheral Neuroblastic Tumors in Two Siblings.
- Yang Y, Chen J, Qin H, Jin Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Guo Y.
- Front Genet. 2021 Jul 23;12:652718. doi: 10.3389/fgene.2021.652718.
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- Clinicopathological characterization of a real-world multicenter cohort of endometrioid ovarian carcinoma: Analysis of the French national ESME-Unicancer database.
- De Nonneville A, Zemmour C, Frank S, Joly F, Ray-Coquard I, Costaz H, Classe JM, Floquet A, De la Motte Rouge T, Colombo PE, Sauterey B, Leblanc E, Pomel C, Marchal F, Barranger E, Savoye AM, Guillemet C, Petit T, Pautier P, Rouzier R, Gladieff L, Simon G, Courtinard C, Sabatier R.
- Gynecol Oncol. 2021 Jul 19:S0090-8258(21)00581-3. doi: 10.1016/j.ygyno.2021.07.019. Epub ahead of print.
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- High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
- Janíková K, Vánová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L.
- Neoplasma. 2021 Jul 14:210226N256. doi: 10.4149/neo_2021_210226N256. Epub ahead of print.
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- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
- Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
- Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
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- The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
- Shui L, Li X, Peng Y, Tian J, Li S, He D, Li A, Tian B, Li M, Gao H, An N, Yi C, Cao D.
- J Transl Med. 2021 Jul 12;19(1):301. doi: 10.1186/s12967-021-02972-6.
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- Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
- Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
- Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
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- Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
- Sekine M, Nishino K, Enomoto T.
- Genes (Basel). 2021 Jul 8;12(7):1050. doi: 10.3390/genes12071050.
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- Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.
- Lehrer S, Rheinstein PH.
- Am J Clin Oncol. 2021 Jul 1;44(7):299-300. doi: 10.1097/COC.0000000000000833.
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- Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
- Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
- JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.
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Commentary:
Expanding Germline Testing to All Patients With Esophagogastric Cancers-Easy to Do, Harder to Justify.
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Press: Gastric Cancer Cases Frequently Harbor Genetic Risk Variants, Suggesting Germline Testing. (GenomeWeb)
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- Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.
- Casolino R, Paiella S, Azzolina D, Beer PA, Corbo V, Lorenzoni G, Gregori D, Golan T, Braconi C, Froeling FEM, Milella M, Scarpa A, Pea A, Malleo G, Salvia R, Bassi C, Chang DK, Biankin AV.
- J Clin Oncol. 2021 Jul 1:JCO2003238. doi: 10.1200/JCO.20.03238. Epub ahead of print.
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- Rare BRCA2 Mutation and MSI-H in Male Patient with Aggressive Stage III Colorectal Cancer, Case Report and Literature Review.
- Ghimpau V, Ungureanu BS, Gheonea DI, Lungulescu C, Lungulescu CV.
- Curr Health Sci J. 2021 Jul-Sep;47(3):451-456. doi: 10.12865/CHSJ.47.03.18. Epub 2021 Sep 30.
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- Malignant salivary gland tumours in families with breast cancer susceptibility.
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- Virchows Arch. 2021 Jul;479(1):221-226. doi: 10.1007/s00428-021-03105-6. Epub 2021 Jun 8.
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- Remarkable Response to Olaparib in a Patient with Combined Hepatocellular-Cholangiocarcinoma Harboring a Biallelic BRCA2 Mutation.
- Su YL, Ng CT, Jan YH, Hsieh YL, Wu CL, Tan KT.
- Onco Targets Ther. 2021 Jun 29;14:3895-3901. doi: 10.2147/OTT.S317514.
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- Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
- Bekos C, Grimm C, Kranawetter M, Polterauer S, Oberndorfer F, Tan Y, Müllauer L, Singer CF.
- J Pers Med. 2021 Jun 24;11(7):593. doi: 10.3390/jpm11070593.
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- Implications of targeted next-generation sequencing for bladder cancer: report of four cases.
- Khalifa MK, Bakr NM, Ramadan A, Abd Elwahab KM, Desoky E, Nageeb AM, Swellam M.
- J Genet Eng Biotechnol. 2021 Jun 21;19(1):91. doi: 10.1186/s43141-021-00182-7.
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- Ovarian Cancer: Biomarkers and Targeted Therapy.
- Radu MR, Pradatu A, Duica F, Micu R, Cretoiu SM, Suciu N, Cretoiu D, Varlas VN, Radoi VE.
- Biomedicines. 2021 Jun 18;9(6):693. doi: 10.3390/biomedicines9060693.
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- A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.
- Diossy M, Sztupinszki Z, Borcsok J, Krzystanek M, Tisza V, Spisak S, Rusz O, Timar J, Csabai I, Fillinger J, Moldvay J, Pedersen AG, Szuts D, Szallasi Z.
- NPJ Precis Oncol. 2021 Jun 18;5(1):55. doi: 10.1038/s41698-021-00199-8.
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- Genetic testing for assessment of lynch syndrome in young patients with polyps.
- Laish I, Goldberg Y, Friedman E, Kedar I, Katz L, Levi Z, Gingold-Belfer R, Kopylov U, Feldman D, Levi-Reznick G, Half E.
- Dig Liver Dis. 2021 Jun 17:S1590-8658(21)00305-4. doi: 10.1016/j.dld.2021.05.031. Epub ahead of print.
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- Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
- Dunn C, Gately L, Gibbs P.
- JAMA Oncol. 2021 Jun 17. doi: 10.1001/jamaoncol.2021.1904. Epub ahead of print.
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Letter, Reply:
Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.
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Original research:
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
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- Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer.
- Wang A, Everett JN, Chun J, Cen C, Simeone DM, Schnabel F.
- Sci Rep. 2021 Jun 14;11(1):12491. doi: 10.1038/s41598-021-91971-0.
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- Family history of early onset acute lymphoblastic leukemia is suggesting genetic associations.
- Li X, Sundquist K, Sundquist J, Försti A, Hemminki K.
- Sci Rep. 2021 Jun 11;11(1):12370. doi: 10.1038/s41598-021-90542-7.
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- Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives.
- Abdel-Razeq H, Tamimi F, Abujamous L, Edaily S, Abunasser M, Bater R, Salama O.
- Cancer Manag Res. 2021 Jun 9;13:4597-4604. doi: 10.2147/CMAR.S316470.
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- Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
- Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
- Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
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- 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.
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- Combined modality therapy including cytoreductive surgery and heated intraperitoneal chemotherapy for synchronous low volume peritoneal carcinomatosis from adenocarcinoma of the tail of pancreas in a BRCA-2 carrier resulting in long-term disease-free survival: A case report.
- Hoefer RA, Obiora C, Azab B, Harden EA, Kessler JF.
- Int J Surg Case Rep. 2021 Jun;83:106047. doi: 10.1016/j.ijscr.2021.106047. Epub 2021 May 29.
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- Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.
- Gupta S, Rajappa S, Advani S, Agarwal A, Aggarwal S, Goswami C, Palanki SD, Arya D, Patil S, Kodagali R.
- JCO Glob Oncol. 2021 Jun;7:849-861. doi: 10.1200/GO.21.00051.
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- Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
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- BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.
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- Efficacy and safety of rucaparib in previously treated, locally advanced or metastatic urothelial carcinoma from a phase 2, open-label trial (ATLAS).
- Grivas P, Loriot Y, Morales-Barrera R, Teo MY, Zakharia Y, Feyerabend S, Vogelzang NJ, Grande E, Adra N, Alva A, Necchi A, Rodriguez-Vida A, Gupta S, Josephs DH, Srinivas S, Wride K, Thomas D, Simmons A, Loehr A, Dusek RL, Nepert D, Chowdhury S.
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- 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.
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- Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
- Massari G, Magnoni F, Favia G, Peradze N, Veronesi P, La Vecchia C, Corso G.
- Cancers (Basel). 2021 May 12;13(10):2321. doi: 10.3390/cancers13102321.
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- Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.
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- BRCA mutated pancreatic cancer: A change is coming.
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- BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.
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- A rectovaginal septum mass in a BRCA1 positive patient years after risk reducing surgery: A case report.
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- Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
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- Molecular characterization of high-grade serous ovarian cancers occurring in younger and older women.
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- Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.
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- The Efficacy of Combined Cisplatin and Nanoparticle Albumin-Bound Paclitaxel in a Stage IV Pancreatic Squamous Cell Carcinoma Patient With a Somatic BRCA2 Mutation: A Case Report.
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- Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
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- Complete pathological response to olaparib and bevacizumab in advanced cervical cancer following chemoradiation in a BRCA1 mutation carrier: a case report.
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- Olaparib Treatment in a Patient with Advanced Gallbladder Cancer Harboring BRCA1 Mutation.
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- Onco Targets Ther. 2021 Apr 22;14:2815-2819. doi: 10.2147/OTT.S303594.
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- Disease Spectrum of Breast Cancer Susceptibility Genes.
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- Germline mutations and age at onset of lung adenocarcinoma.
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- Cancer. 2021 Apr 15. doi: 10.1002/cncr.33573. Epub ahead of print.
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- DNA damage response and repair in pancreatic cancer development and therapy.
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- What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors.
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- Diagnostics (Basel). 2021 Apr 14;11(4):697. doi: 10.3390/diagnostics11040697.
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- Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
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- Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.
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- Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
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- Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
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- Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
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- Cancers (Basel). 2021 Apr 7;13(8):1762. doi: 10.3390/cancers13081762.
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- Malignant Phyllodes Tumor of the Breast: A Practice Review.
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- Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
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- Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.
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- Cureus. 2021 Apr 2;13(4):e14258. doi: 10.7759/cureus.14258.
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- Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
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- JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.
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Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.
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Letter, Comment:
Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
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- Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.
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- Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
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- Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
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- Examination of ATM, BRCA1, and BRCA2 promoter methylation in patients with pancreatic cancer.
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- What’s Autism Got To Do With It?
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- The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
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- Diagnostics (Basel). 2021 Mar 21;11(3):565. doi: 10.3390/diagnostics11030565.
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- Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.
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- Diagnostics (Basel). 2021 Mar 19;11(3):547. doi: 10.3390/diagnostics11030547.
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- The German National Case Collection for Familial Pancreatic Carcinoma (FaPaCa) / Knowledge Gained in 20 Years.
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- Dtsch Arztebl Int. 2021 Mar 5;118(Forthcoming):arztebl.m2021.0004. doi: 10.3238/arztebl.m2021.0004. Epub ahead of print.
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- Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
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- The Importance of Learning Your Pancreatic Cancer Risk When Cancer Runs in Your Family.
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- Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
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- Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
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- Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
- Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
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- Ovarian cancer risk in Lynch syndrome: it's time to individualise.
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Original research:
A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome
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- Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
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- Asia Pac J Clin Oncol. 2021 Feb 25. doi: 10.1111/ajco.13520. Epub ahead of print.
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- Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
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- Cancers (Basel). 2021 Feb 20;13(4):881. doi: 10.3390/cancers13040881.
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- Biologic behavior of resected BRCA-mutated pancreatic cancer: Comparison with sporadic pancreatic cancer and other BRCA-related cancers.
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- Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.
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- Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel.
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- De-novo acute myeloid leukemia in a BRCA positive female with locally treated ductal carcinoma In Situ.
- Nabrinsky E, Masood F, AbdulMujeeb S, Asado N, Almanaseer I, Galvez A.
- Leuk Res Rep. 2021 Feb 9;15:100237. doi: 10.1016/j.lrr.2021.100237.
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- Tumour-Agnostic Therapy for Pancreatic Cancer and Biliary Tract Cancer.
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- Diagnostics (Basel). 2021 Feb 6;11(2):252. doi: 10.3390/diagnostics11020252.
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- The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
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- Breast Cancer Res Treat. 2021 Feb;185(3):869-877. doi: 10.1007/s10549-020-06066-7. Epub 2021 Jan 16.
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- Therapeutic Potential of Olaparib in Combination With Pembrolizumab in a Young Patient With a Maternally Inherited BRCA2 Germline Variant: A Research Report.
- Waddington T, Mambetsariev I, Pharaon R, Fricke J, Baroz AR, Romo H, Ghanem B, Gray S, Salgia R.
- Clin Lung Cancer. 2021 Jan 27:S1525-7304(21)00012-7. doi: 10.1016/j.cllc.2021.01.009. Epub ahead of print.
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- Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
- Tlemsani C, Takahashi N, Pongor L, Rajapakse VN, Tyagi M, Wen X, Fasaye GA, Schmidt KT, Desai P, Kim C, Rajan A, Swift S, Sciuto L, Vilimas R, Webb S, Nichols S, Figg WD, Pommier Y, Calzone K, Steinberg SM, Wei JS, Guha U, Turner CE, Khan J, Thomas A.
- Sci Transl Med. 2021 Jan 27;13(578):eabc7488. doi: 10.1126/scitranslmed.abc7488.
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- Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.
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- Cancers (Basel). 2021 Jan 26;13(3):470. doi: 10.3390/cancers13030470.
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- Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma.
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- 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.
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- BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update.
- Savanevich A, Ashuryk O, Cybulski C, Lubinski J, Gronwald J.
- Hered Cancer Clin Pract. 2021 Jan 21;19(1):13. doi: 10.1186/s13053-021-00169-y.
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- Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
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- J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.
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- Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.
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- Diagnostic and therapeutic ERß, HER2, BRCA biomakers in the histological subtypes of lung adenocarcinoma according to the IASLC/ATS/ERS classification.
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- Homologous Recombination Repair Mechanisms in Serous Endometrial Cancer.
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- Cancers (Basel). 2021 Jan 12;13(2):E254. doi: 10.3390/cancers13020254.
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- Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
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- Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
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- Cancers (Basel). 2021 Jan 8;13(2):E198. doi: 10.3390/cancers13020198.
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- A pathogenic germline BRCA2 variant in a patient with hypopharyngeal squamous cell carcinoma.
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- Impact of young age on platinum response in women with epithelial ovarian cancer: Results of a large single-institution registry.
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- Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
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- Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
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- Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
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- Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
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- Novel BRCA2 c.8434_8435insTT (p. Gly2812Valfs*10) mutation in a family with multiple hematologic malignancies and solid tumors.
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- Hereditary ovarian tumour syndromes: current update on genetics and imaging.
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- Clinical Outcome-Related Mutational Signatures Identified by Integrative Genomic Analysis in Nasopharyngeal Carcinoma.
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- Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
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- Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report.
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- Population-based Screening for Hereditary Colorectal Cancer Variants in Japan.
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- The mutational pattern of homologous recombination-related (HRR) genes in Chinese colon cancer and its relevance to immunotherapy responses.
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- Prevalence and spectrum of pathogenic germline variants in intestinal and pancreatobiliary type of ampullary cancer.
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- Five Italian Families with Two Mutations in BRCA Genes.
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- Current practices on genetic testing in ovarian cancer.
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- Ovarian cancer risk assessment in the era of next-generation sequencing.
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- Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
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- Outcomes of endoscopic ultrasound as a one-off pancreatic cancer screening tool for 122 high- and moderate-risk patients.
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- Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.
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- Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.
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- Endometrial cancer in germline BRCA mutation carriers: a systematic review and meta-analysis.
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- Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis.
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- Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.
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- Frequency and prognostic value of mutations associated with the homologous recombination DNA repair pathway in a large pan cancer cohort.
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- Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review.
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- Radiologic-Histopathologic Correlation of Transvaginal US and Risk-reducing Salpingo-oophorectomy for Women at High Risk for Tubo-ovarian Carcinoma.
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- BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives.
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- Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
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- Germline BRCA1 mutated esophageal squamous cell carcinoma.
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- Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.
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- Molecular characteristics of BRCA1/2 and PALB2 mutations in pancreatic ductal adenocarcinoma.
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- BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral.
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- Risques néoplasiques majorés dans la rectocolite ulcéro-hémorragique associée à la cholangite sclérosante primitive [Increased neoplastic risks in ulcerative colitis associated with primary sclerosing cholangitis].
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- Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study.
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- Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
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- Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
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- Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
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- Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
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- Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
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- Identification of a Novel BRCA1 Alteration in Recurrent Melanocytoma Resulting in Increased Proliferation.
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- Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation: A case report.
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- Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
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- Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits?
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- First report of a Mexican family with mutation in the CDH1 gene.
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- Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
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- Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
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