Category: Phenotype

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    • Real-World Data on Olaparib in Relapsed BRCA-mutated Ovarian Cancer: A Multicenter GINECO RETROLA Cohort Study.
    • Bourien H, Lefevre LB, Mouret-Reynier MA, Asselain B, Lucas B, Gavoille C, Cornila C, Gavoille L, Colomba E, Patsouris A, Fabbro M, Chakiba C, Toussaint P, Simon H, Berton D, Garbay D, Tixidre CG, Coeffic D, Morvan A, Collard O, DE LA Motte Rouge T.
    • Anticancer Res. 2023 Feb;43(2):653-662. doi: 10.21873/anticanres.16202.

    • Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer.
    • Liu J, Mroczek M, Mach A, Stępień M, Aplas A, Pronobis-Szczylik B, Bukowski S, Mielczarek M, Gajewska E, Topolski P, Król ZJ, Szyda J, Dobosz P.
    • Cancers (Basel). 2023 Jan 27;15(3):779. doi: 10.3390/cancers15030779.

    • 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.
    • Review. [Article in German]

    • Financial toxicity in BRCA1 and BRCA2 carriers.
    • Proussaloglou EM, Rosenthal AE, Raker CA, Wilbur JS, Stuckey AR, Robison KM.
    • Gynecol Oncol. 2023 Jan 24;170:160-166. doi: 10.1016/j.ygyno.2023.01.007. Epub ahead of print.

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    • BRCA, infertility, and fertility preservation: a review for counseling.
    • Baltacı E, Kazancı F, Şahin Fİ.
    • J Assist Reprod Genet. 2023 Jan 25. doi: 10.1007/s10815-023-02725-y. Epub ahead of print.
    • Review

    • Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.
    • Wei B, Gu J, Gao B, Bao Y, Duan R, Li Q, Xie F.
    • Br J Dermatol. 2023 Jan 23;188(1):64-74. doi: 10.1093/bjd/ljac020.

    • Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
    • Lopes Cardozo JMN, Andrulis IL, Bojesen SE, Dörk T, Eccles DM, Fasching PA, Hooning MJ, Keeman R, Nevanlinna H, Rutgers EJT, Easton DF, Hall P, Pharoah PDP, van 't Veer LJ, Schmidt MK; Breast Cancer Association Consortium and MINDACT Collaborators.
    • J Clin Oncol. 2023 Jan 23:JCO2201978. doi: 10.1200/JCO.22.01978. Epub ahead of print.

    • Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue.
    • Yang P, Xu N, Su Y, Duan C, Wang S, Fu L, Yu T, Guo R, Ma X.
    • Front Oncol. 2023 Jan 4;12:934882. doi: 10.3389/fonc.2022.934882.

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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.

    • Emerging systemic treatment for metastatic castration-resistant prostate cancer: a review of recent randomized controlled trials.
    • Yanagisawa T, Kawada T, Rajwa P, Kimura T, Shariat SF.
    • Curr Opin Urol. 2023 Jan 25. doi: 10.1097/MOU.0000000000001080. Epub ahead of print.
    • Review

    • 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.
    • Case report

    • Risk of seizures in a population of women with BRCA-positive metastatic breast cancer from an electronic health record database in the United States.
    • Liede A, Sebby W, Miriyala AKR, Potluri R, Mazumder D, Ghosh A, Papademetriou E, Kilpatrick R, Tyczynski JE.
    • BMC Cancer. 2023 Jan 24;23(1):78. doi: 10.1186/s12885-023-10554-6.

    • Long-Term Non-Cancer Risks in People with BRCA Mutations following Risk-Reducing Bilateral Salpingo-Oophorectomy and the Role of Hormone Replacement Therapy: A Review.
    • Nitschke AS, Abreu do Valle H, Dawson L, Kwon JS, Hanley GE.
    • Cancers (Basel). 2023 Jan 24;15(3):711. doi: 10.3390/cancers15030711.

    • 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.

    • Efficacy and safety of treatment regimens for metastatic, locally advanced, or recurrent breast cancer patients with breast cancer susceptibility genes 1 or 2 mutations: a network meta-analysis.
    • Zhu Y, Li Y, Liu W, Zhou R, Tse SL, Wang Y, Li W.
    • Front Oncol. 2023 Jan 24;13:1080297. doi: 10.3389/fonc..2023.1080297.

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    • Survival Outcomes in Women with Unilateral, Triple-Negative, Breast Cancer Correlated with Contralateral Prophylactic Mastectomy.
    • Fasano GA, Bayard S, Chen Y, Marti J, Simmons R, Swistel A, Bensenhaver J, Davis M, Newman L.
    • Ann Surg Oncol. 2023 Jan 21. doi: 10.1245/s10434-022-13056-0. Epub ahead of print.

    • 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.

    • Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
    • Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
    • BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.
    • Case report

    • 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.

    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
    • Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
    • Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.

    • Impact of Homologous Recombination Deficiency on Outcomes in Patients With Triple-Negative Breast Cancer Treated With Carboplatin-Based Neoadjuvant Chemotherapy: Secondary Analysis of the NeoCART Randomized Clinical Trial.
    • Zhang L, Wu Z, Li J, Zhu D, Yang L, Shao Y, Lin Y, Liu Z, Cao Y, Zhang G, Shang S, Zhang Y, Wang K.
    • JCO Precis Oncol. 2023 Jan;7:e2200337. doi: 10.1200/PO.22.00337.

    Related:

    •• Identifier: NCT03154749: DCb (Docetaxel/Carboplatin) Versus EC-D (Epirubicin/Cyclophosphamide Followed by Docetaxe) as Neoadjuvant Chemotherapy for Triple-Negative Breast Cancer. (ClinicalTrials.gov . Accessed 2023 Jan 18.)

    • LitAlert ~~ GeneLit.com

    • 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.

    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
    • Hovland HN, Kabanyana Mchaina E, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
    • Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.

    • Histopathological results of radical prostatectomy specimen of men younger than 50 years of age at the time of surgery: possible implications for prostate cancer screening programs?
    • Mehring G, Tilki D, Heinzer H, Steuber T, Pose RM, Thederan I, Budäus L, Salomon G, Haese A, Michl U, Maurer T, Huland H, Graefen M, Isbarn H.
    • World J Urol. 2023 Jan 19. doi: 10.1007/s00345-023-04287-1. Epub ahead of print.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • Real-World Efficacy and Safety of PARP Inhibitors in Recurrent Ovarian Cancer Patients With Somatic BRCA and Other Homologous Recombination Gene Mutations.
    • Pan YE, Hood A, Ahmad H, Altwerger G.
    • Ann Pharmacother. 2023 Jan 18:10600280221149136. doi: 10.1177/10600280221149136. Epub ahead of print.

    • Discrimination between Complete versus Non-Complete Pathologic Response to Neoadjuvant Therapy Using Ultrasensitive Mutation Analysis: A Proof-of-Concept Study in BRCA1-Driven Breast Cancer Patients.
    • Sokolenko AP, Moiseyenko FV, Iyevleva AG, Ivantsov AO, Dolmatov GD, Shelekhova KV, Gulo EV, Topal AX, Artemieva EV, Abduloeva NH, Rysev NA, Barsova DA, Levchenko NV,, Volkov NM, Egorenkov VV, Moiseyenko VM, Imyanitov EN.
    • Int J Mol Sci. 2023 Jan 18;24(3):1870. doi: 10.3390/ijms24031870.

    • Novel Agents in the Adjuvant Setting: PARP Inhibitors.
    • Geyer C, Krop IE.
    • OncLive. OncLive NewsNetwork. 2023 Jan 18.

    • Association of the Telomerase Reverse Transcriptase rs10069690 Polymorphism with the Risk, Age at Onset and Prognosis of Triple Negative Breast Cancer.
    • Zins K, Peka E, Miedl H, Ecker S, Abraham D, Schreiber M.
    • Int J Mol Sci. 2023 Jan 17;24(3):1825. doi: 10.3390/ijms24031825.

    • CRISPR screens reveal genetic determinants of PARP inhibitor sensitivity and resistance in prostate cancer.
    • Tsujino T, Takai T, Hinohara K, Gui F, Tsutsumi T, Bai X, Miao C, Feng C, Gui B, Sztupinszki Z, Simoneau A, Xie N, Fazli L, Dong X, Azuma H, Choudhury AD, Mouw KW, Szallasi Z, Zou L, Kibel AS, Jia L.
    • Nat Commun. 2023 Jan 17;14(1):252. doi: 10.1038/s41467-023-35880-y.

    • Genetic Analysis Helps Maximize Clinical Benefit with PARP Inhibitors in BRCA+ Ovarian Cancer.
    • Flaherty C, Guntupalli S.
    • OncLive. 2023 Jan 17.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.

    • Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer.
    • Nukaya T, Sumitomo M, Sugihara E, Takeda M, Nohara S, Tanishima S, Takenaka M, Zennami K, Takahara K, Shiroki R, Saya H.
    • Cancer Med. 2023 Jan 16. doi: 10.1002/cam4.5617. Epub ahead of print.

    • Comments on .
    • Kratz CP, Evans DG.
    • Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
    • Letter. Commentary

    Related:

    •• Reply:

    Reply to: Comments on .

    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

    • 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.

    • 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.

    • First-line Rucaparib Plus Bevacizumab Maintenance Completed One-Year in Germline BRCA1-Mutated Advanced Ovarian Cancer.
    • Roy S, Ghosh J, Ganguly S, Biswas B, Bhaumik J.
    • Cureus. 2022 Dec 13;14(12):e32493. doi: 10.7759/cureus.32493.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.

    • Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer.
    • Nukaya T, Sumitomo M, Sugihara E, Takeda M, Nohara S, Tanishima S, Takenaka M, Zennami K, Takahara K, Shiroki R, Saya H.
    • Cancer Med. 2023 Jan 16. doi: 10.1002/cam4.5617. Epub ahead of print.

    • 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.

    • 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.

    • First-line Rucaparib Plus Bevacizumab Maintenance Completed One-Year in Germline BRCA1-Mutated Advanced Ovarian Cancer.
    • Roy S, Ghosh J, Ganguly S, Biswas B, Bhaumik J.
    • Cureus. 2022 Dec 13;14(12):e32493. doi: 10.7759/cureus.32493.

    • LitAlert ~~ GeneLit.com

    • Olaparib First-Line Maintenance Monotherapy in BRCA-Mutated Epithelial Ovarian Cancer: Descriptive Analysis of the First French Real-World Data Study.
    • Bellier C, Gladieff L, Le Du F, Berton D, Bonnard C, Suau D, Richard AC, Brenner O, Lahouegue A, Freyer G, Floquet A, Frank S, Kfoury M.
    • Drugs Real World Outcomes. 2023 Jan 11. doi: 10.1007/s40801-022-00349-9. Epub ahead of print.

    • Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom [Clinically relevant molecular pathological diagnostics in breast cancer].
    • Rodepeter FR, Teply-Szymanski J, Romey M, Grass A, Erber R, Lebeau A, Mack EKM, Tarawneh TS, Gremke N, Boekhoff J, Wündisch T, Wagner U, Jank P, Denkert C.
    • Pathologie (Heidelb). 2023 Jan 11. German. doi: 10.1007/s00292-022-01175-0. Epub ahead of print.
    • Review. [Article in German]

    • Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
    • Zhang C, Zhu D, Qu Y, Shi M, Ma J, Peng Y, Zhu B, Tao H, Ma T, Hou T.
    • J Med Genet. 2023 Jan 10:jmg-2022-108816. doi: 10.1136/jmg-2022-108816. Epub ahead of print.

    • Dr. Dorff on the Investigation of PARP Inhibitors in mCRPC.
    • Dorff TB.
    • OncLive. OncLive TV. 2023 Jan 10.

    • Real-world applications of PARPi maintenance therapy for recurrent ovarian cancer: A single-center study in China.
    • Wang DF, Shi XW, Zhang C, Zhang J, Liu H, Huang JM, Zhang GN, Wen QL.
    • Gynecol Oncol. 2023 Jan 4;170:25-31. doi: 10.1016/j.ygyno.2022.12.014. Epub ahead of print.

    • Real-world safety and effectiveness of maintenance niraparib for platinum-sensitive recurrent ovarian cancer: A GEICO retrospective observational study within the Spanish Expanded-Access Programme.
    • Cueva JF, Palacio I, Churruca C, Herrero A, Pardo B, Constenla M, Santaballa A, Manso L, Estévez P, Maximiano C, Legerén M, Marquina G, de Juan A, Quindós M, Sánchez L, Barquin A, Fernández I, Martín C, Juárez A, Martín T, García Y, Yubero A, Gallego A, Martínez Bueno A, Guerra E, González-Martín A.
    • Eur J Cancer. 2023 Jan 1. doi: 10.1016/j.ejca.2022.12.023. Epub ahead of print.

    Related:

    •• Identifier: NCT04546373: Niraparib as Maintenance Therapy in Patients With Platinum Sensitive Recurrent Ovarian Cancer. (ClinicalTrials.gov . Accessed 2023 Jan 9.)

    • Circulating T-cell receptor diversity as predictive biomarker for PARP inhibitors maintenance therapy in high grade serous ovarian cancer.
    • Shu T, Zhou Z, Bai J, Xiao X, Gao M, Zhang N, Wang H, Xia X, Gao Y, Zheng H.
    • Gynecol Oncol. 2023 Jan;168:135-143. doi: 10.1016/j.ygyno.2022.11.013. Epub 2022 Nov 25.

    • Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
    • Olaya J, Sanjuan J, Torres-Lopez D, Olaya L, Gutierrez-Vargas M, Olaya G, Olaya JD.
    • Cureus. 2022 Dec 6;14(12):e32257. doi: 10.7759/cureus.32257.

    • LitAlert ~~ GeneLit.com

    • Molecular characteristics of Asian male BRCA-related cancers.
    • Kwong A, Ho CYS, Shin VY, Ng ATL, Chan TL, Ma ESK.
    • Breast Cancer Res Treat. 2023 Jan 13. doi: 10.1007/s10549-022-06651-y. Epub ahead of print.

    • Hormone replacement therapy in BRCA mutation carriers: how shall we do no harm?
    • Loizzi V, Dellino M, Cerbone M, Arezzo F, Chiariello G, Lepera A, Cazzato G, Cascardi E, Damiani GR, Cicinelli E, Cormio G.
    • Hormones (Athens). 2023 Jan 13. doi: 10.1007/s42000-022-00427-1. Epub ahead of print.
    • Review

    • 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.