Non-BRCA1/2 genes/mutations known or suspected to increase risk for breast and/or ovarian cancer
List was last updated on
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- Potential Impact of PI3K-AKT Signaling Pathway Genes, KLF-14, MDM4, miRNAs 27a, miRNA-196a Genetic Alterations in the Predisposition and Progression of Breast Cancer Patients.
- Alzahrani OR, Mir R, Alatwi HE, Hawsawi YM, Alharbi AA, Alessa AH, Albalawi ES, Elfaki I, Alalawi Y, Moharam L, El-Ghaiesh SH.
- Cancers (Basel). 2023 Feb 17;15(4):1281. doi: 10.3390/cancers15041281.
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- Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.
- Morales-Pison S, Morales-González S, Fernandez-Ramires R, Tapia JC, Maldonado E, Calaf GM, Jara L.
- Int J Mol Sci. 2023 Feb 17;24(4):4041. doi: 10.3390/ijms24044041.
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- Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
- Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM.
- Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01284-1. Epub ahead of print.
- PMID: 36797466
- PubMed abstract
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- 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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- Rucaparib or Physician's Choice in Metastatic Prostate Cancer.
- Fizazi K, Piulats JM, Reaume MN, Ostler P, McDermott R, Gingerich JR, Pintus E, Sridhar SS, Bambury RM, Emmenegger U, Lindberg H, Morris D, Nolè F, Staffurth J, Redfern C, Sáez MI, Abida W, Daugaard G, Heidenreich A, Krieger L, Sautois B, Loehr A, Despain D, Heyes CA, Watkins SP, Chowdhury S, Ryan CJ, Bryce AH; TRITON3 Investigators.
- N Engl J Med. 2023 Feb 16. doi: 10.1056/NEJMoa2214676. Epub ahead of print.
- PMID: 36795891
- PubMed abstract
- Source abstract
•• Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2023 Feb 16.)
•• Research news: Rucaparib Bests Physician's Choice for BRCA+ mCRPC. (OncLive)
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- Diagnosis, Management, and Surveillance for Patients with PALB2, CHEK2, and ATM Gene Mutations.
- Fencer MG, Krupa KA, Bleich GC, Grumet S, Eladoumikdachi FG, Kumar S, Kowzun MJ, Potdevin LB.
- Clin Breast Cancer. 2023 Feb 15:S1526-8209(23)00034-4. doi: 10.1016/j.clbc.2023.02.004. Epub ahead of print.
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- Breast Cancer Screening Utilization and Outcomes in Women with Neurofibromatosis Type 1.
- Yan K, Gao Y, Heller SL.
- Clin Breast Cancer. 2023 Feb 12:S1526-8209(23)00035-6. doi: 10.1016/j.clbc.2023.02.005. Epub ahead of print.
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- Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
- Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
- J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.
- PMID: 36775657
- PubMed abstract
- Source abstract
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- Contralateral lymph node metastasis in recurrent ipsilateral breast cancer with Lynch syndrome: a locoregional event.
- Zwimpfer TA, Schwab FD, Steffens D, Kaul F, Schmidt N, Geiger J, Geissler F, Heinzelmann-Schwarz V, Weber WP, Kurzeder C.
- World J Surg Oncol. 2023 Feb 9;21(1):40. doi: 10.1186/s12957-023-02918-w.
- PMID: 36755294
- PubMed abstract
- Case report
- Free PMC article
- Free Full Text
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- Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
- D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
- Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.
- Case report
- Free Full Text
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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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- The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
- Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
- Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.
- PMID: 36749285
- PubMed abstract
- Source abstract
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- A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53).
- Petry V, Colombo Bonadio R, Testa L, Cohn DJBH, Cagnacci A, Campos RG, Cândida Bv Fragoso M, del Pilar Estevez-Diz M.
- Breast. 2023 Feb 6:S0960-9776(23)00025-5. doi: 10.1016/j.breast.2023.02.002. Epub ahead of print.
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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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- 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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- Hereditary Diffuse Gastric Cancer.
- Decourtye-Espiard L, Guilford P.
- Gastroenterology. 2023 Feb 3:S0016-5085(23)00110-5. doi: 10.1053/j.gastro.2023.01.038. Epub ahead of print.
- PMID: 36740198
- PubMed abstract
- Source abstract
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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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- Homologous Recombination Deficiency in Ovarian Cancer: From the Biological Rationale to Current Diagnostic Approaches.
- Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S.>
- J Pers Med. 2023 Feb 2;13(2):284. doi: 10.3390/jpm13020284.
- Review
- Free Full Text
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- Genetic variants in African-American and Hispanic patients with breast cancer.
- Dutta P, Keung MY, Wu Y, Vadgama JV.
- Oncol Lett. 2022 Dec 16 [eCollection 2023 Feb];25(2):51. doi: 10.3892/ol.2022.13637.
- PMID: 36644153
- PubMed abstract
- Source abstract
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- Germline TP53 pathogenic variants and breast cancer: A narrative review.
- Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M.
- Cancer Treat Rev. 2023 Jan 31;114:102522. doi: 10.1016/j.ctrv.2023.102522. Epub ahead of print.
- PMID: 36739824
- PubMed abstract
- Review
- Free Full Text
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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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- Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
- Žilovic D, Vaicekauskaite I, Ciurliene R, Sabaliauskaite R, Jarmalaite S.
- Cancers (Basel). 2023 Jan 30;15(3):868. doi: 10.3390/cancers15030868.
- PMID: 36765826
- 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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- Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
- Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
- medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.
- PMID: 36747679
- PubMed abstract
- Source abstract
- Preprint
- Free PMC article
- Free Full Text
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- MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.
- Shao Z, Yu J, Cheng Y, Ma W, Liu P, Lu H.
- BMC Cancer. 2023 Jan 27;23(1):97. doi: 10.1186/s12885-023-10555-5.
- PMID: 36707770
- PubMed abstract
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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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- Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?
- Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Schlecht H, Jayson GC, Evans DGR.
- Cancers (Basel). 2023 Jan 25;15(3):730. doi: 10.3390/cancers15030730.
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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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- Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
- Díaz Velásquez CE, Gitler R, Antoniano A, Kershenovich Sefchovich R, De La Cruz Montoya A, Martínez Gregorio H, Rojas Jiménez EA, Cortez Cardoso Penha R, Terrazas LI, Wegman-Ostrosky T, Levi-Lahad E, Zabaleta J, Perdomo S, Paniagua FV.
- Front Genet. 2023 Jan 24;14:1094260. doi: 10.3389/fgene.2023.1094260.
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- 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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- 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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- Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.
- Kumpula TA, Koivuluoma S, Soikkonen L, Vorimo S, Moilanen J, Winqvist R, Mantere T, Kuismin O, Pylkäs K.
- Fam Cancer. 2023 Jan 19. doi: 10.1007/s10689-023-00327-2. Epub ahead of print.
- PMID: 36653541
- PubMed abstract
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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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- Landscape of DNA damage response gene alterations in breast cancer: A comprehensive investigation.
- Jin J, Cao J, Li B, Li T, Zhang J, Cao J, Zhao M, Wang L, Wang B, Tao Z, Hu X.
- Cancer. 2023 Jan 18. doi: 10.1002/cncr.34618. Epub ahead of print.
- PMID: 36655350
- PubMed abstract
- Source abstract
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- Inference on the Genetic Architecture of Breast Cancer Risk.
- Yasui Y, Letsou W, Wang F, Im C, Sapkota Y, Wang Z, Mirzaei Salehabadi S, Baedke JL, Moon WJ, Liu Q, Robison LL, Martinez JM.
- Cancer Epidemiol Biomarkers Prev. 2023 Jan 18:EPI-22-1073. doi: 10.1158/1055-9965.EPI-22-1073. Epub ahead of print.
- PMID: 36652676
- PubMed abstract
- Source abstract
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- Positive response to Niraparib in chemo-refractory patient with metastatic appendiceal mucinous adenocarcinoma harboring ATM mutations: a case report.
- Wang J, He H, Xu W, Chen J.
- Front Oncol. 2023 Jan 17;12:1010871. doi: 10.3389/fonc.2023.1010871.
- Case report
- Free Full Text
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- Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
- Adam F, Fluri M, Scherz A, Rabaglio M.
- BMC Med Genomics. 2023 Jan 16;16(1):7. doi: 10.1186/s12920-023-01437-7.
- PMID: 36647026
- PubMed abstract
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- Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].
- Kratz CP, Evans DG.
- Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
- PMID: 36647321
- PubMed abstract
- Source abstract
•• Reply:
Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.
- PMID: 36647327
- PubMed abstract
- Source abstract
•• Original research:
The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
- PMID: 36468172
- PubMed abstract
- Free Full Text
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- Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis.
- Bak SE, Kim H, Ho JY, Cho EH, Lee J, Youn SM, Park SW, Han MR, Hur SY, Lee SJ, Choi YJ.
- Cancers (Basel). 2023 Jan 15;15(2):530. doi: 10.3390/cancers15020530.
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- Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
- Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
- Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.
- PMID: 36660366
- PubMed abstract
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- The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women.
- Larionov A, Fewings E, Redman J, Goldgraben M, Clark G, Boice J, Concannon P, Bernstein J, Conti DV, the WECARE Study Collaborative Group, Tischkowitz M.
- Cancers (Basel). 2023 Jan 8;15(2):415. doi: 10.3390/cancers15020415.
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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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- Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
- Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C.
- JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415.
- PMID: 36634299
- PubMed abstract
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- A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
- Soleimani T, Bourdon C, Davis J, Fortes T.
- Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.
- PMID: 36644613
- PubMed abstract
- Source abstract
- Case report
- Free PMC article
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- Germline variants associated with breast cancer in Khakass women of North Asia.
- Gervas P, Molokov A, Zarubin A, Topolnitskiy E, Shefer N, Pisareva L, Choynzonov E, Cherdyntseva N.
- Mol Biol Rep. 2022 Dec 28. doi: 10.1007/s11033-022-08215-1. Epub ahead of print.
- PMID: 36577833
- PubMed abstract
- Source abstract
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- A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
- Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
- J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.
- PMID: 36563937
- PubMed abstract
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- Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
- Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P.
- Eur J Hum Genet. 2022 Dec 19. doi: 10.1038/s41431-022-01270-z. Epub ahead of print.
- PMID: 36529819
- 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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- Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
- Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C.
- Ann Oncol. 2022 Dec 15:S0923-7534(22)04771-8. doi: 10.1016/j.annonc.2022.12.003. Epub ahead of print.
- PMID: 36529447
- PubMed abstract
- Source abstract
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- Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
- Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
- Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.
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- 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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- The performance of multi-gene panels for breast/ovarian cancer predisposition.
- Nunziato M, Luca Scaglione G, Di Maggio F, Nardelli C, Capoluongo E, Salvatore F.
- Clin Chim Acta. 2022 Dec 12:S0009-8981(22)01409-7. doi: 10.1016/j.cca.2022.12.007. Epub ahead of print.
- PMID: 36521553
- PubMed abstract
- Source abstract
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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
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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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- The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
- Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
- Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.
- PMID: 36479692
- PubMed abstract
- Source abstract
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- Gene of the month: PALB2.
- Hamdan O, Nowak KM.
- J Clin Pathol. 2022 Dec 7:jcp-2022-208461. doi: 10.1136/jcp-2022-208461. Epub ahead of print.
- PMID: 36600573
- PubMed abstract
- Source abstract
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- Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
- Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL.
- J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1665. Epub ahead of print.
- PMID: 36478495
- PubMed abstract
- Source abstract
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- Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
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- The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
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Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].
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Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.
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- Predictive factors for relapse in triple-negative breast cancer patients without pathological complete response after neoadjuvant chemotherapy.
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- Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
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- The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
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- Genetic Predisposition to Male Breast Cancer: A Case Series.
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- Germline pathogenic variants associated with ovarian cancer: A historical overview.
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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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- Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
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- In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
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- Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
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- Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
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- The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
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- Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.
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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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- Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
- Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
- Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.
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- Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
- Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
- Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.
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- The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code.
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- Hered Cancer Clin Pract. 2022 Nov 21;20(1):37. doi: 10.1186/s13053-022-00243-z.
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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.
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- Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial.
- Schram AM, Colombo N, Arrowsmith E, Narayan V, Yonemori K, Scambia G, Zelnak A, Bauer TM, Jin N, Ulahannan SV, Colleoni M, Aftimos P, Donoghue MTA, Rosen E, Rudneva VA, Telli ML, Domchek SM, Galsky MD, Hoyle M, Chappey C, Stewart R, Blake-Haskins JA, Yap TA.
- JAMA Oncol. 2022 Nov 17. doi: 10.1001/jamaoncol.2022.5218. Epub ahead of print.
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•• Identifier: NCT03565991: Javelin BRCA/ATM: Avelumab Plus Talazoparib in Patients With BRCA or ATM Mutant Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Nov 19.)
•• Commentary:
Combining PARP Inhibitor With Immunotherapy-Does the Promise of Preclinical Data Translate to Clinic?
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- Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
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- Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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Reply to Evans and Woodward.
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- Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
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- Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
- Budurlean L, Baker M, Broach J.
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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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- Genome-wide Analysis of Rare Haplotypes Associated with Breast Cancer Risk.
- Wang F, Moon W, Letsou W, Sapkota Y, Wang Z, Im C, Baedke JL, Robison L, Yasui Y.
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- Study Suggests a PARP Inhibitors Has Wider Cancer Applications.
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A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.
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- NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.
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- Clin Cancer Res. 2022 Nov 8:CCR-22-1703. doi: 10.1158/1078-0432.CCR-22-1703. Epub ahead of print.
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- Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
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- Front Genet. 2022 Nov 8;12:1020543. doi: 10.3389/fgene.2022.1020543.
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- Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
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- 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.
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- A common IGF1R gene variant predicts later life breast cancer risk in women with preeclampsia.
- Powell M, Fuller S, Gunderson E, Benz C.
- Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06789-9. Epub ahead of print.
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- Detection of microsatellite instability high (MSI-H) status by targeted plasma-based genotyping in metastatic breast cancer.
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- Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.
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- Am J Hum Genet. 2022 Nov 3:S0002-9297(22)00459-1. doi: 10.1016/j.ajhg.2022.10.011. Epub ahead of print.
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- Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
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- Sci Rep. 2022 Nov 3;12(1):18629. doi: 10.1038/s41598-022-23012-3.
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- Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
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- Cancer Genet. 2022 Nov 1;268-269:128-136. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
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- Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
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- 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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- The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
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- Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
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- DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.
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- Cancers (Basel). 2022 Oct 27;14(21):5278. doi: 10.3390/cancers14215278.
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- A moving target for drug discovery: Structure activity relationship and many genome (de)stabilizing functions of the RAD52 protein.
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- Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
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- Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
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- PTEN Loss Enhances Error-Prone DSB Processing and Tumor Cell Radiosensitivity by Suppressing RAD51 Expression and Homologous Recombination.
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- Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
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- Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.
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- Links between Breast and Thyroid Cancer: Hormones, Genetic Susceptibility and Medical Interventions.
- Lu M, Liu H, Zheng B, Sun S, Chen C.
- Cancers (Basel). 2022 Oct 19;14(20):5117. doi: 10.3390/cancers14205117.
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- MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
- Manning-Geist B, Gordhandas S, Liu YL, Zhou Q, Iasonos A, Da Cruz Paula A, Mandelker D, Roche KL, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
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Commentary:
Taking the Road Less Traveled: Following Molecular Trail Markers.
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- Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
- Felbor U, Bülow R, Schmutzler RK, Rath M.
- Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.
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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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- Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
- Ray T.
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Special article:
Is there a duty to reinterpret genetic data? The ethical dimensions.
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- A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
- Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
- Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
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- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
- DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
- J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
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- Management of ovarian and breast cancer risk in non-BRCA HBOC pathogenic variant carriers in a large California health care system.
- Powell CB, Laurent C, Garcia C, Hoodfar E, Karlea A, Kobelka C, Lee J, Roh J, Kushi LH.
- Gynecol Oncol. 2022 Oct 8:S0090-8258(22)01857-1. doi: 10.1016/j.ygyno.2022.10.001. Epub ahead of print.
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- Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
- Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC.
- Am J Hum Genet. 2022 Oct 6;109(10):1777-1788. doi: 10.1016/j.ajhg.2022.09.006.
- PMID: 36206742
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Research news: Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses. (GenomeWeb)
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- Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
- Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
- Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.
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- Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants.
- Soussi T.
- Cancer Res. 2022 Oct 4;82(19):3420-3431. doi: 10.1158/0008-5472.CAN-22-0172.
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- Six Case Reports of NTHL1-Associated Tumor Syndrome Further Support it as a Multi-Tumor Predisposition Syndrome.
- Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
- Clin Genet. 2022 Oct 4. doi: 10.1111/cge.14242. Epub ahead of print.
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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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- Ovarian Cancer Therapy: Homologous Recombination Deficiency as a Predictive Biomarker of Response to PARP Inhibitors.
- Miller RE, Elyashiv O, El-Shakankery KH, Ledermann JA.
- Onco Targets Ther. 2022 Oct 4;15:1105-1117. doi: 10.2147/OTT.S272199.
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- Rucaparib Meets rPFS End Point in BRCA/ATM-Mutated mCRPC.
- Ryan C.
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Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2022 Oct 5.)
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- Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
- Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
- Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
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- Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.
- Guo Y, Wan Q, Ouyang T, Li J, Wang T, Fan Z, Xie Y.
- Breast. 2022 Oct;65:55-60. doi: 10.1016/j.breast.2022.07.002. Epub 2022 Jul 7.
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- Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
- Eyries M, Ariste O, Legrand G, Basset N, Guillerm E, Perrier A, Duros C, Cohen-Haguenauer O, de la Grange P, Coulet F.
- Eur J Hum Genet. 2022 Oct;30(10):1187-1190. doi: 10.1038/s41431-022-01064-3. Epub 2022 Mar 11.
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- Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.
- Bernard J, Mehros W, Gregoire J, Douville P, Renaud MC, Sebastianelli A, Langlais EL, Plante M.
- J Obstet Gynaecol Can. 2022 Oct;44(10):1047-1053. doi: 10.1016/j.jogc.2022.06.005. Epub 2022 Jun 30.
- PMID: 35779836
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- Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
- Pereira JZ, Carneiro JG, Vieira MS, Valente BM, de Oliveira PZ, Mello CL, de Campos CLV, Gomes KB.
- Mol Biol Rep. 2022 Oct;49(10):9509-9520. doi: 10.1007/s11033-022-07840-0. Epub 2022 Aug 18.
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- A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.
- Gruber JJ, Afghahi A, Timms K, DeWees A, Gross W, Aushev VN, Wu HT, Balcioglu M, Sethi H, Scott D, Foran J, McMillan A, Ford JM, Telli ML.
- Nat Cancer. 2022 Oct;3(10):1181-1191. doi: 10.1038/s43018-022-00439-1. Epub 2022 Oct 17.
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•• Identifier: NCT02401347: Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Oct 18.)
•• Identifier: NCT04756765: Talazoparib Monotherapy in PALB2 Mutation Associated Advanced Breast Cancer. (ClinicalTrials.gov . Accessed 2022 Oct 18.)
•• Research news: Study Suggests a PARP Inhibitors Has Wider Cancer Applications. (Inside Precision Medicine)
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- Modulation of DNA Methylation/Demethylation Reactions Induced by Nutraceuticals and Pollutants of Exposome Can Promote a C > T Mutation in the Breast Cancer Predisposing Gene PALB2.
- Courant F, Bougras-Cartron G, Abadie C, Frenel JS, Cartron PF.
- Epigenomes. 2022 Sep 30;6(4):32. doi: 10.3390/epigenomes6040032.
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- Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
- Infante M, Arranz-Ledo M, Lastra E, Abella LE, Ferreira R, Orozco M, Hernández L, Martínez N, Durán M.
- Int J Mol Sci. 2022 Sep 29;23(19):11499. doi: 10.3390/ijms231911499.
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- A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
- Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
- Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738.
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- Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.
- Green BL, Fasaye GA, Samaranayake SG, Duemler A, Gamble LA, Davis JL.
- Front Genet. 2022 Sep 28;13:1012025. doi: 10.3389/fgene.2022.1012025.
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- Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
- Shen K, Zhang M, Wang J, Mu W, Wang J, Wang C, Xing S, Hong Z, Xiao M.
- Front Oncol. 2022 Sep 28;12:1036511. doi: 10.3389/fonc.2022.1036511.
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- High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
- Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
- Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
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- Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.
- Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group, Vos JR.
- J Natl Cancer Inst. 2022 Sep 28:djac188. doi: 10.1093/jnci/djac188. Epub ahead of print.
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- Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
- Bonnet E, Haddad V, Quesada S, Baffert KA, Lardy-Cléaud A, Treilleux I, Pissaloux D, Attignon V, Wang Q, Buisson A, Heudel PE, Bachelot T, Dufresne A, Eberst L, Toussaint P, Bonadona V, Lasset C, Viari A, Sohier E, Paindavoine S, Combaret V, Pérol D, Ray-Coquard I, Blay JY, Trédan O.
- J Pers Med. 2022 Sep 27;12(10):1595. doi: 10.3390/jpm12101595.
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- ATM c.7570G>C is a high-risk allele for breast cancer.
- Kankuri-Tammilehto M, Tervasmäki A, Kraatari-Tiri M, Rahikkala E, Pylkäs K, Kuismin O.
- Int J Cancer. 2022 Sep 26. doi: 10.1002/ijc.34305. Epub ahead of print.
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- Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
- Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PP, Easton DF, Antoniou AC.
- J Med Genet. 2022 Sep 26:jmedgenet-2022-108471. doi: 10.1136/jmedgenet-2022-108471. Epub ahead of print.
- PMID: 36162851
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- Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.
- Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC.
- J Med Genet. 2022 Sep 26:jmg-2022-108806. doi: 10.1136/jmg-2022-108806. Epub ahead of print.
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- Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
- Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
- Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
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- Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
- Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ.
- JAMA Oncol. 2022 Sep 22. doi: 10.1001/jamaoncol.2022.4071. Epub ahead of print.
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- Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
- Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
- J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.
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- Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
- D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
- Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
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- Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients.
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- Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
- Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F.
- Exp Mol Pathol. 2022 Sep 20;128:104833. doi: 10.1016/j.yexmp.2022.104833. Epub ahead of print.
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- Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
- Prakash R, Rawal Y, Sullivan MR, Grundy MK, Bret H, Mihalevic MJ, Rein HL, Baird JM, Darrah K, Zhang F, Wang R, Traina TA, Radke MR, Kaufmann SH, Swisher EM, Guérois R, Modesti M, Sung P, Jasin M, Bernstein KA.
- Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
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- Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
- Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA.
- Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541.
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- Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
- Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
- Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
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- Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study.
- Chen F, Park SL, Wilkens LR, Wan P, Hart SN, Hu C, Yadav S, Couch FJ, Conti DV, de Smith AJ, Haiman CA.
- Cancer Res. 2022 Sep 16;82(18):3201-3208. doi: 10.1158/0008-5472.CAN-21-4461.
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- Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
- Panigoro SS, Paramita RI, Siswiandari KM, Fadilah F.
- Diagnostics (Basel). 2022 Sep 16;12(9):2241. doi: 10.3390/diagnostics12092241.
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- Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
- Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU.
- HPB (Oxford). 2022 Sep 15:S1365-182X(22)01593-3. doi: 10.1016/j.hpb.2022.09.003. Epub ahead of print.
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- Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
- Hamid AB, Frank LE, Bouley RA, Petreaca RC.
- PLoS One. 2022 Sep 15;17(9):e0273736. doi: 10.1371/journal.pone.0273736.
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- Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: a case report.
- Gomez-Puerto D, Llop-Guevara A, Cruellas M, Torres-Esquius S, De La Torre J, Peg V, Balmaña J, Pimentel I.
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- Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
- Doraczynska-Kowalik A, Michalowska D, Matkowski R, Czykalko E, Blomka D, Semeniuk M, Abrahamowska M, Janus-Szymanska G, Mlynarczykowska P, Szynglarewicz B, Pawlak I, Maciejczyk A, Laczmanska I.
- Front Genet. 2022 Sep 12;13:941375. doi: 10.3389/fgene.2022.941375.
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- CDH1 (E-cadherin) Gene Methylation in Human Breast Cancer: Critical Appraisal of a Long and Twisted Story.
- Bücker L, Lehmann U.
- Cancers (Basel). 2022 Sep 8;14(18):4377. doi: 10.3390/cancers14184377.
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- Frequent abnormal pancreas imaging in patients with pathogenic ATM, BRCA1, BRCA2, and PALB2 breast cancer susceptibility variants.
- Lucas AL, Fu Y, Labiner A, DiMaio CJ, Sethi A, Kastrinos F.
- Clin Gastroenterol Hepatol. 2022 Sep 7:S1542-3565(22)00836-9. doi: 10.1016/j.cgh.2022.08.040. Epub ahead of print.
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- Somatic tumor mutations in moderate risk cancer genes: Targets for germline confirmatory testing.
- Llorin H, Graf M, Chun N, Ford J.
- Cancer Genet. 2022 Sep 6;268-269:22-27. doi: 10.1016/j.cancergen.2022.09.001. Epub ahead of print.
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- Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
- Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, Sugano K, Yoshida T, Matsuda K, Murakami Y, Maeda Y, Nakagawa H, Momozawa Y.
- Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
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- Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis.
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- Germline breast cancer susceptibility genes, tumor characteristics, and survival.
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- DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.
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- Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases.
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- Ovarian Cancer-Specific BRCA-like Copy-Number Aberration Classifiers Detect Mutations Associated with Homologous Recombination Deficiency in the AGO-TR1 Trial.
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- Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
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- Germline mutations in RAD51C and RAD51D and hereditary predisposition to ovarian cancer.
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- Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
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- Characterization of patients with long-term responses to rucaparib treatment in recurrent ovarian cancer.
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- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
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- Efficacy of systemic therapies in men with metastatic castration resistant prostate cancer harboring germline ATM versus BRCA2 mutations.
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- Epigenetic Dysregulation of KCNK9 Imprinting and Triple-Negative Breast Cancer.
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- Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
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- Genetic Testing Challenges in Oncology: No Follow-up on Insurer Denial Delays Cancer Risk Management.
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- Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.
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- Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.
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- RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
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- The Mutational Landscape of Early-Onset Breast Cancer: a Next-generation Sequencing Analysis.
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- Breast Irradiation is Well Tolerated in Carriers of a Pathogenic ATM Variant.
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- Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
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- Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
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A South African Indian population group dataset for breast cancer and BRCA1/2 variants.
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- Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).
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- Breast cancer characteristics and surgery among women with Li-Fraumeni syndrome in Germany-A retrospective cohort study.
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- Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
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- Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
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- Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
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- Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
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- Peutz-Jeghers Syndrome and the Role of Imaging: Pathophysiology, Diagnosis, and Associated Cancers.
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- Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
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- Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
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- Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
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- Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
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- Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
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- Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
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- Assessment of mismatch repair deficiency in ovarian cancer.
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- Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
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- Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
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- Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
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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.
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- Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
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- Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
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- Genetic predisposition to male breast cancer in Poland.
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- Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
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- Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
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- Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
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- Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
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- The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
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- Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross-sectional survey of health professionals.
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- PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy.
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- Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
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- Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
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- Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
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- A DNA methylation-based liquid biopsy for triple-negative breast cancer.
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- Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
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- Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.
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- Association between Predicted Effects of TP53 Missense Variants on Protein Conformation and Their Phenotypic Presentation as Li-Fraumeni Syndrome or Hereditary Breast Cancer.
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- Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
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- Living Life to its Fullest with an ATM Mutation in a Coronavirus Pandemic.
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- Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
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- Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
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- Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than BRCA1 or BRCA2.
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- Homologous recombination deficiency: cancer predispositions and treatment implications.
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- Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.
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- J Clin Oncol. 2021 May 20;39(15):1619-1630. doi: 10.1200/JCO.20.01200. Epub 2021 Mar 29.
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- Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
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- Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
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- Genome Med. 2021 May 18;13(1):87. doi: 10.1186/s13073-021-00897-9.
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- Breast Cancer-Related Low Penetrance Genes.
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- BRCA and Breast Cancer-Related High-Penetrance Genes.
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- The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice.
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- Genes (Basel). 2021 May 13;12(5):727. doi: 10.3390/genes12050727.
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- Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?
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- Breast Cancer (Dove Med Press). 2021 May 12;13:299-310. doi: 10.2147/BCTT.S306075.
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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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- Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.
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- NPJ Breast Cancer. 2021 May 12;7(1):52. doi: 10.1038/s41523-021-00255-3.
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- Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
- Fan X, Wynn J, Shang N, Liu C, Fedotov A, Hallquist MLG, Buchanan AH, Williams MS, Smith ME, Hoell C, Rasmussen-Torvik LJ, Peterson JF, Wiesner GL, Murad AM, Jarvik GP, Gordon AS, Rosenthal EA, Stanaway IB, Crosslin DR, Larson EB, Leppig KA, Henrikson NB, Williams JL, Li R, Hebbring S, Weng C, Shen Y, Crew KD, Chung WK.
- JNCI Cancer Spectr. 2021 May 8;5(4):pkab044. doi: 10.1093/jncics/pkab044.
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- Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
- Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
- Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
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- A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation.
- Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS.
- J Mol Diagn. 2021 May 5:S1525-1578(21)00119-7. doi: 10.1016/j.jmoldx.2021.04.010. Epub ahead of print.
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- In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.
- Arshad S, Ishaque I, Mumtaz S, Rashid MU, Malkani N.
- Biochem Genet. 2021 May 4. doi: 10.1007/s10528-021-10074-7. Epub ahead of print.
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- Lynch Syndrome in Thai Endometrial Cancer Patients.
- Manchana T, Ariyasriwatana C, Triratanachat S, Phowthongkum P.
- Asian Pac J Cancer Prev. 2021 May 1;22(5):1477-1483. doi: 10.31557/APJCP.2021.22.5.1477.
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- Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient.
- Zheng Y, Li B, Pan D, Cao J, Zhang J, Wang X, Li X, Hou W, Bao D, Ren L, Yang J, Wang S, Qiu Y, Zhou F, Liu Z, Zhu S, Zhang L, Qing T, Wang Y, Yu Y, Wu J, Hu X, Shi L.
- Breast Cancer Res. 2021 May 1;23(1):53. doi: 10.1186/s13058-021-01428-5.
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- Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.
- Funato M, Tsunematsu Y, Yamazaki F, Tamura C, Kumamoto T, Takagi M, Kato S, Sugimura H, Tamura K.
- Cancer Sci. 2021 May 1. doi: 10.1111/cas.14919. Epub ahead of print.
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- Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
- Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
- Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12.
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- Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
- van den Akker J, Hon L, Ondov A, Mahkovec Z, O'Connor R, Chan RC, Lock J, Zimmer AD, Rostamianfar A, Ginsberg J, Leon A, Topper S.
- J Mol Diagn. 2021 May;23(5):612-629. doi: 10.1016/j.jmoldx.2021.01.015. Epub 2021 Feb 20.
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Press: More than 500 Structural Variants Linked to Hereditary Cancer and Cardiovascular Disorders Identified. (Clinical OMICs)
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- The ten genes for breast (and ovarian) cancer susceptibility.
- Foulkes WD.
- Nat Rev Clin Oncol. 2021 May;18(5):259-260. doi: 10.1038/s41571-021-00491-3.
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Original research:
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
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Original research:
A Population-Based Study of Genes Previously Implicated in Breast Cancer.
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- The results of multigene panel sequencing in Slovak HBOC families.
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- Neoplasma. 2021 May;68(3):652-664. doi: 10.4149/neo_2021_201204N1307. Epub 2021 Mar 17.
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- Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
- Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
- J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
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- Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
- Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
- Fam Cancer. 2021 Apr 28. doi: 10.1007/s10689-021-00258-w. Epub ahead of print.
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- CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
- Apostolou P, Dellatola V, Papadimitriou C, Kalfakakou D, Fountzilas E, Faliakou E, Fountzilas G, Romanidou O, Konstantopoulou I, Fostira F.
- Cancers (Basel). 2021 Apr 27;13(9):2106. doi: 10.3390/cancers13092106.
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- Functional Genomic Analyses of the 21q22.3 Locus Identifying Functional Variants and Candidate Gene YBEY for Breast Cancer Risk.
- Shidal C, Shu X, Wu J, Wang J, Huang S, Long J, Bauer JA, Ping J, Guo X, Zheng W, Shu XO, Cai Q.
- Cancers (Basel). 2021 Apr 23;13(9):2037. doi: 10.3390/cancers13092037.
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- Characterisation of PALB2 tumours through whole-exome and whole-transcriptomic analyses.
- Ng PS, Pan JW, Ahmad Zabidi MM, Rajadurai P, Yip CH, Reuda OM, Dunning AM, Antoniou AC, Easton DF, Caldas C, Chin SF, Teo SH.
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- Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
- Lu K, Smith M, Kanderi T, Verbiar J, Laspe J, Bair L, Torp L.
- Cureus. 2021 Apr 22;13(4):e14637. doi: 10.7759/cureus.14637.
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- Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
- Toss A, Tenedini E, Piombino C, Venturelli M, Marchi I, Gasparini E, Barbieri E, Razzaboni E, Domati F, Caggia F, Grandi G, Combi F, Tazzioli G, Dominici M, Tagliafico E, Cortesi L.
- Genes (Basel). 2021 Apr 21;12(5):616. doi: 10.3390/genes12050616.
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- Disease Spectrum of Breast Cancer Susceptibility Genes.
- Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.
- Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419.
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- Fast Five Quiz: Breast Cancer Myths.
- Chalasani P.
- Medscape. Drugs & Diseases. 2021 Apr 20.
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- A Case Report of Breast Implant-Associated Anaplastic Large-Cell Lymphoma in a PALB2 Mutation-Positive Woman.
- Bonev V.
- Am Surg. 2021 Apr 15:31348211011056. doi: 10.1177/00031348211011056. Epub ahead of print.
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- Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
- Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
- Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.
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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.
- De Leo A, Santini D, Ceccarelli C, Santandrea G, Palicelli A, Acquaviva G, Chiarucci F, Rosini F, Ravegnini G, Pession A, Turchetti D, Zamagni C, Perrone AM, De Iaco P, Tallini G, de Biase D.
- Diagnostics (Basel). 2021 Apr 14;11(4):697. doi: 10.3390/diagnostics11040697.
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- Germline Structural Variations in Cancer Predisposition Genes.
- Pócza T, Grolmusz VK, Papp J, Butz H, Patócs A, Bozsik A.
- Front Genet. 2021 Apr 14;12:634217. doi: 10.3389/fgene.2021.634217.
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- The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
- Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ.
- Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011. Epub ahead of print.
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- Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
- Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
- Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
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- Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
- Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM.
- BMC Cancer. 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9.
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- Multigene assessment of genetic risk for women for two or more breast cancers.
- Weitzel JN, Kidd J, Bernhisel R, Shehayeb S, Frankel P, Blazer KR, Turco D, Nehoray B, McGreevy K, Svirsky K, Brown K, Gardiner A, Daly M, Hughes E, Cummings S, Saam J, Slavin TP.
- Breast Cancer Res Treat. 2021 Apr 7. doi: 10.1007/s10549-021-06201-y. Epub ahead of print.
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- Genetic Association Analysis Implicates Six MicroRNA-Related SNPs With Increased Risk of Breast Cancer in Australian Caucasian Women.
- Arif KMT, Bradshaw G, Nguyen TTN, Smith RA, Okolicsanyi RK, Youl PH, Haupt LM, Griffiths LR.
- Clin Breast Cancer. 2021 Apr 5:S1526-8209(21)00067-7. doi: 10.1016/j.clbc.2021.03.012. Epub ahead of print.
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- Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
- Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH.
- J Med Genet. 2021 Apr 2:jmedgenet-2020-107471. doi: 10.1136/jmedgenet-2020-107471. Epub ahead of print.
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- Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
- Cheah SK, Bisambar CR, Pitfield D, Giger O, Hoopen RT, Martin JE, Clark GR, Park SM, Parkinson C, Challis BG, Casey RT.
- Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:EDM200196. doi: 10.1530/EDM-20-0196. Epub ahead of print.
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- Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
- Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, Schuetze SM, Zalupski MM, Sahai V, Alva A, Schott AF, Caram MEV, Hayes DF, Stoffel EM, Jacobs MF, Kumar-Sinha C, Cao X, Wang R, Lucas D, Ning Y, Rabban E, Bell J, Camelo-Piragua S, Udager AM, Cieslik M, Lonigro RJ, Kunju LP, Robinson DR, Talpaz M, Chinnaiyan AM.
- JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.
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Editorial:
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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Letter, Reply:
Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.
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Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)
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- Tumor phenotype and concordance in synchronous bilateral breast cancer in young women.
- Pak LM, Gaither R, Rosenberg SM, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Warner E, Snow C, Collins LC, King TA, Partridge AH.
- Breast Cancer Res Treat. 2021 Apr;186(3):815-821. doi: 10.1007/s10549-020-06027-0. Epub 2020 Nov 26.
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- Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference.
- Nawar N, Paul A, Mahmood HN, Faisal MI, Hosen MI, Shekhar HU.
- Bioinformation. 2021 Mar 31;17(3):424-438. doi: 10.6026/97320630017424.
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- Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair.
- Chaudhry SR, Lopes J, Levin NK, Kalpage H, Tainsky MA.
- Cell Death Discov. 2021 Mar 29;7(1):62. doi: 10.1038/s41420-021-00442-y.
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- Germline Mutations in Other Homologous Recombination Repair-Related Genes Than BRCA1/2: Predictive or Prognostic Factors?
- Cortesi L, Piombino C, Toss A.
- J Pers Med. 2021 Mar 28;11(4):245. doi: 10.3390/jpm11040245.
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Original research:
TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes.
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Original research:
Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
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- What’s Autism Got To Do With It?
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- My Gene Counsel. Genetic Journal. 2021 Mar 27.
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- Delineation of an unknown significance FANCA genetic variant in a recurrent breast cancer patient.
- Kastora S, Triantafyllidou O, Kounidas G, Vlahos N.
- BMJ Case Rep. 2021 Mar 24;14(3):e241251. doi: 10.1136/bcr-2020-241251.
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- Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.
- Nguyen-Dumont T, Dowty JG, Steen JA, Renault AL, Hammet F, Mahmoodi M, Theys D, Rewse A, Tsimiklis H, Winship IM, Giles GG, Milne RL, Hopper JL, Southey MC.
- Cancers (Basel). 2021 Mar 18;13(6):1378. doi: 10.3390/cancers13061378.
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- Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
- Seppälä TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Piñero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Rokkones E, Sampson JR, Evans DG, Møller P.
- Eur J Cancer. 2021 Mar 17;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub ahead of print.
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- Candidate Markers of Olaparib Response from Genomic Data Analyses of Human Cancer Cell Lines.
- Amuzu S, Carmona E, Mes-Masson AM, Greenwood CMT, Tonin PN, Ragoussis J.
- Cancers (Basel). 2021 Mar 15;13(6):1296. doi: 10.3390/cancers13061296.
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- BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.
- Cortesi L, Domati F, Guida A, Marchi I, Toss A, Barbieri E, Marcheselli L, Venturelli M, Piana S, Cirilli C, Federico M.
- Cancer Biol Med. 2021 Mar 12;18(2):470–6. doi: 10.20892/j.issn.2095-3941.2020.0481. Epub ahead of print.
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- E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women.
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- Mol Med. 2021 Mar 10;27(1):26. doi: 10.1186/s10020-021-00287-2.
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- Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
- Lyss AP.
- Medscape. News & Perspective. 2021 Mar 8.
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Original research:
Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
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- Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
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- Front Oncol. 2021 Mar 4;11:570623. doi: 10.3389/fonc.2021.570623.
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Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
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- VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association.
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- Int J Mol Sci. 2021 Mar 3;22(5):2535. doi: 10.3390/ijms22052535.
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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.
- Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
- Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
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- Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
- George SHL, Donenberg T, Alexis C, DeGennaro V Jr, Dyer H, Yin S, Ali J, Butler R, Chin SN, Curling D, Lowe D, Lunn J, Turnquest T, Wharfe G, Cerbon D, Barreto-Coelho P, Schlumbrecht MP, Akbari MR, Narod SA, Hurley JE.
- JAMA Netw Open. 2021 Mar 1;4(3):e210307. doi: 10.1001/jamanetworkopen.2021.0307.
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- Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
- Feng Z, Wen H, Ju X, Bi R, Chen X, Yang W, Wu X.
- Ann Transl Med. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136.
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- Ovarian cancer risk in Lynch syndrome: it's time to individualise.
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- BJOG. 2021 Mar;128(4):737. doi: 10.1111/1471-0528.16481. Epub 2020 Sep 29.
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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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- Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
- Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
- Breast Cancer. 2021 Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1. Epub 2020 Sep 28.
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- New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.
- Gervas P, Molokov A, Ivanova A, Panferova Y, Kiselev A, Chernyshova A, Pisareva L, Choynzonov E, Cherdyntseva N.
- Exp Oncol. 2021 Mar;43(1):52-55. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-1.15587.
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- Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
- Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF.
- Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.
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Press: Study Demonstrates the Reasons to Screen Children with Cancer for Inherited Cancer Genes. (Memorial Sloan Kettering Cancer Center. News & Information.)
Press: MSK Researchers Detail Inherited Cancer Risk in Pediatric Patients. (Clinical OMICs)
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- PALB2 Variants: Protein Domains and Cancer Susceptibility.
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- Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1.
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- Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.
- Hallenstein LG, Sorensen C, Hodgson L, Wen S, Westhuyzen J, Hansen C, Last ATJ, Amalaseelan JV, Salindera S, Ross W, Spigelman AD, Shakespeare TP, Aherne NJ.
- Hered Cancer Clin Pract. 2021 Feb 26;19(1):19. doi: 10.1186/s13053-021-00176-z.
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- Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
- Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL.
- Cancer Commun (Lond). 2021 Feb 25. doi: 10.1002/cac2.12134. Epub ahead of print.
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- Modification of Homologous Recombination Deficiency Score Threshold and Association with Long-Term Survival in Epithelial Ovarian Cancer.
- How JA, Jazaeri AA, Fellman B, Daniels MS, Penn S, Solimeno C, Yuan Y, Schmeler K, Lanchbury JS, Timms K, Lu KH, Yates MS.
- Cancers (Basel). 2021 Feb 24;13(5):946. doi: 10.3390/cancers13050946.
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- Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie.
- De Angelis C, Nardelli C, Concolino P, Pagliuca M, Setaro M, De Paolis E, De Placido P, Forestieri V, Scaglione GL, Ranieri A, Lombardo B, Pastore L, De Placido S, Capoluongo E.
- Front Oncol. 2021 Feb 24;11:602523. doi: 10.3389/fonc.2021.602523.
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- A synergetic effect of BARD1 mutations on tumorigenesis.
- Li W, Gu X, Liu C, Shi Y, Wang P, Zhang N, Wu R, Leng L, Xie B, Song C, Li M.
- Nat Commun. 2021 Feb 23;12(1):1243. doi: 10.1038/s41467-021-21519-3.
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- Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
- Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
- PLoS One. 2021 Feb 19;16(2):e0247363. doi: 10.1371/journal.pone.0247363.
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- Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
- Lukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Nielacna M, Madry R, Bialkowska K, Prajzendanc K, Kluzniak W, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubinski J, Jakubowska A.
- Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
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- Functional interrogation of DNA damage response variants with base editing screens.
- Cuella-Martin R, Hayward SB, Fan X, Chen X, Huang JW, Taglialatela A, Leuzzi G, Zhao J, Rabadan R, Lu C, Shen Y, Ciccia A.
- Cell. 2021 Feb 18;184(4):1081-1097.e19. doi: 10.1016/j.cell.2021.01.041.
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- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
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- Nat Commun. 2021 Feb 17;12(1):1078. doi: 10.1038/s41467-020-20496-3.
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- A Review of Cancer Genetics and Genomics Studies in Africa.
- Rotimi SO, Rotimi OA, Salhia B.
- Front Oncol. 2021 Feb 15;10:606400. doi: 10.3389/fonc.2020.606400.
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- The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature.
- Asaad A, Barron M, Rasheed N, Idaewor P, Saad Abdalla Al-Zawi A.
- Cureus. 2021 Feb 12;13(2):e13314. doi: 10.7759/cureus.13314.
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- Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
- Moradian MM, Babikyan DT, Markarian S, Petrosyan JG, Avanesian N, Arutunyan T, Sarkisian TF.
- Hum Genome Var. 2021 Feb 9;8(1):9. doi: 10.1038/s41439-021-00140-2.
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- Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
- Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ.
- J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.
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Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)
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- Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
- Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF.
- N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.
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•• Editorial:
Which Genes for Hereditary Breast Cancer?
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•• Commentary:
The ten genes for breast (and ovarian) cancer susceptibility.
- PMID: 33692540
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- Free Full Text
•• Commentary:
The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
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•• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)
•• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)
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- A Population-Based Study of Genes Previously Implicated in Breast Cancer.
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- N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.
- PMID: 33471974
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•• Editorial:
Which Genes for Hereditary Breast Cancer?
- PMID: 33471975
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- Source abstract
•• Commentary:
The ten genes for breast (and ovarian) cancer susceptibility.
- PMID: 33692540
- PubMed abstract
- Free Full Text
•• Commentary:
The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
- PMID: 33993096
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- Free Full Text
•• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)
•• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)
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- Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
- Lattimore V, Parsons MT, Spurdle AB, Pearson J, Lehnert K, Sullivan J, Lintott C, Bawden S, Morrin H, Robinson B, Walker L.
- Breast Cancer Res Treat. 2021 Feb;185(3):583-590. doi: 10.1007/s10549-020-05986-8. Epub 2020 Oct 28.
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- Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.
- Gomes R, Spinola PDS, Brant AC, Matta BP, Nascimento CM, de Aquino Paes SM, Bonvicino CR, Dos Santos ACE, Moreira MAM.
- Breast Cancer Res Treat. 2021 Feb;185(3):851-861. doi: 10.1007/s10549-020-05985-9. Epub 2020 Oct 30.
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- The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
- Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
- Breast Cancer Res Treat. 2021 Feb;185(3):869-877. doi: 10.1007/s10549-020-06066-7. Epub 2021 Jan 16.
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- Effects of Germline Pathogenic Variants, Cancer Subtypes, Tumor-related Characteristics, and Pregnancy-associated Diagnosis on Outcomes.
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- Clin Breast Cancer. 2021 Feb;21(1):47-56. doi: 10.1016/j.clbc.2020.07.003. Epub 2020 Jul 9.
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- Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
- Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ.
- Genes Chromosomes Cancer. 2021 Feb;60(2):73-78. doi: 10.1002/gcc.22911. Epub 2020 Nov 10.
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- Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.
- Sukumar J, Kassem M, Agnese D, Pilarski R, Ramaswamy B, Sweet K, Sardesai S.
- Breast Cancer Res Treat. 2021 Jan 28. doi: 10.1007/s10549-021-06095-w. Epub ahead of print.
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- Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
- Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
- Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
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- Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing.
- Hughes E, Tshiaba P, Wagner S, Judkins T, Rosenthal E, Roa B, Gallagher S, Meek S, Dalton K, Hedegard W, Adami CA, Grear DF, Domchek SM, Garber J, Lancaster JM, Weitzel JN, Kurian AW, Lanchbury JS, Gutin A, Robson ME.
- JCO Precis Oncol. 2021 Jan 28;5:PO.20.00246. doi: 10.1200/PO.20.00246.
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- Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
- Elkholi IE, Di Iorio M, Fahiminiya S, Arcand SL, Han H, Nogué C, Behl S, Hamel N, Giroux S, de Ladurantaye M, Aleynikova O, Gotlieb WH, Côté JF, Rousseau F, Tonin PN, Provencher D, MesMasson AM, Akbari MR, Rivera B, Foulkes WD.
- Sci Rep. 2021 Jan 28;11(1):2409. doi: 10.1038/s41598-021-81106-w.
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- ANKLE1 as New Hotspot Mutation for Breast Cancer in Indian Population and Has a Role in DNA Damage and Repair in Mammalian Cells.
- Bakshi D, Katoch A, Chakraborty S, Shah R, Sharma B, Bhat A, Verma S, Bhat GR, Nagpal A, Vaishnavi S, Goswami A, Kumar R.
- Front Genet. 2021 Jan 27;11:609758. doi: 10.3389/fgene.2020.609758.
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- Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
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- The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
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- Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
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- Protein-Protein interactions uncover candidate 'core genes' within omnigenic disease networks.
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- Shared genomic segment analysis with equivalence testing.
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- Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk.
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- Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
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- Histopathologic features of breast cancer in Li-Fraumeni syndrome.
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- Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
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- Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland.
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- A Case of Male Breast Cancer Patient with CHEK2*1100delC Mutation.
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- Cureus. 2020 Jul 2;12(7):e8972. doi: 10.7759/cureus.8972.
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- Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.
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- Cancer. 2020 Jul 1;126(13):2955. doi: 10.1002/cncr.32999.
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Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.
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- Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.
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- Young Adults With Early Onset Cancer May Benefit From Genetic Testing.
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- Medscape. Medscape Oncology/Reuters Health. 2020 Jul 1.
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- Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
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- An overview of cancer genetics with focus on involvement of BRCA1/2 genes in breast carcinomas.
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- New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
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- DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.
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- Cancers (Basel). 2020 Jun 28;12(7):E1713. doi: 10.3390/cancers12071713.
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- Biomarkers in Triple-Negative Breast Cancer: State-of-the-Art and Future Perspectives.
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- Malignant fibroadenoma with CHEK2 mutation: a novel case.
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- Pathology. 2020 Jun 27:S0031-3025(20)30829-1. doi: 10.1016/j.pathol.2020.04.009. Epub ahead of print.
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- MSK Researches Find High Prevalence of Germline Mutations in Patients With Early-Onset Cancers.
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- UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants.
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- Study: Promising research using a PARP inhibitor to treat metastatic breast cancer in people with an inherited PALB2 mutation or a tumor mutation in a gene that repairs DNA damage.
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Conference abstract:
TBCRC 048: A phase II study of olaparib monotherapy in metastatic breast cancer patients with germline or somatic mutations in DNA damage response (DDR) pathway genes (Olaparib Expanded).
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- CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
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- Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
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- Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
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- Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
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- J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
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- Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
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- Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
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- Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
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- Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
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- Exp Mol Pathol. 2020 Jun 9:104483. doi: 10.1016/j.yexmp.2020.104483. Epub ahead of print.
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- Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk.
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- Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
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- Ann Surg Oncol. 2020 Jun 5. doi: 10.1245/s10434-020-08480-z. Epub ahead of print.
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- RECQ1 Helicase in Genomic Stability and Cancer.
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- Genes (Basel). 2020 Jun 5;11(6):E622. doi: 10.3390/genes11060622.
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- Setting a baseline: A 7-year review of referral rates and outcomes for serous ovarian cancer prior to implementation of oncologist mediated genetic testing.
- Armel SR, Volenik A, Demsky R, Malcolmson J, Maganti M, McCuaig J.
- Gynecol Oncol. 2020 Jun 3:S0090-8258(20)31082-9. doi: 10.1016/j.ygyno.2020.05.014. Epub ahead of print.
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- Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis.
- Alter BP, Best AF.
- Breast Cancer Res Treat. 2020 Jun 2. doi: 10.1007/s10549-020-05710-6. Epub ahead of print.
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- Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
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- Hum Mutat. 2020 Jun 2. doi: 10.1002/humu.24060. Epub ahead of print.
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- Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
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- Polygenic Risk Score, Family History Refine Breast Cancer Risk Assessment in CHEK2 Mutation Carriers.
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- Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
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- Front Oncol. 2020 May 29;10:666. doi: 10.3389/fonc.2020.00666.
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- Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer.
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- Radiographics. 2020 May 29:190181. doi: 10.1148/rg.2020190181. Epub ahead of print.
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Commentary:
Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?
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- Microsatellite instability and mismatch repair protein expressions in lymphocyte-predominant breast cancer.
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- Cancer Sci. 2020 May 24. doi: 10.1111/cas.14500. Epub ahead of print.
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- Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
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- Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
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- Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT).
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- J Clin Oncol. 2020 May 20;38(15 Suppl):1508-1508. doi: 10.1200/JCO.2020.38.15_suppl.1508. Epub 2020 May 25.
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- Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences.
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- Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
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Research news: Breast Cancer Susceptibility GWAS Highlights Dozens New Loci, Some Subtype-Specific. (GenomeWeb)
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- Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
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- A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
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- Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.
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- Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
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Commentary, Research review:
A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors
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Research news:
Women with inherited genetic mutations for breast cancer do not always receive treatment according to guidelines.
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- Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
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- The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
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- Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
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- A network analysis to identify mediators of germline-driven differences in breast cancer prognosis.
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- Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53.
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- Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
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- Microsatellite instability in Japanese female patients with triple-negative breast cancer.
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- Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.
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Letter, Comment:
RE: Mismatch repair protein loss in breast cancer: clinicopathological associations in a large British Columbia cohort.
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