Category: General

LitAlert ~~ GeneLit.com

    • [Expert consensus on the diagnosis and treatment of young breast cancer in China (2022 Edition)].
    • Chinese Society of Clinical Oncology, Experts Committee on Breast Cancer; China Anti-Cancer Association, the Society of Breast Cancer; Chinese Medical Association, Chinese Society of Breast Surgery.
    • Zhonghua Yi Xue Za Zhi. 2023 Feb 14;103(6):387-403. Chinese. doi: 10.3760/cma.j.cn112137-20220907-01895.
    • [Article in Chinese]

    • Women's Metaphors About BRCA Gene Testing and How They Can Inform Health Communication Theory and Practice.
    • Martin SC, Scott AM, Stone AM.
    • Health Commun. 2023 Feb 12:1-13. doi: 10.1080/10410236.2023.2178051. Epub ahead of print.

    • Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
    • Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
    • J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.

    • Psychological distress and decision-making factors for prophylactic bilateral mastectomy in cancer-unaffected BRCA1/2 pathogenic variant carriers.
    • Isselhard A, Tüchler A, Dick J, Scherer A, Aue V, Schmutzler RK, Rhiem K.
    • Psychooncology. 2023 Feb 12. doi: 10.1002/pon.6111. Epub ahead of print.

    • Targeting Breast Cancer: An Overlook on Current Strategies.
    • Iacopetta D, Ceramella J, Baldino N, Sinicropi MS, Catalano A.
    • Int J Mol Sci. 2023 Feb 11;24(4):3643. doi: 10.3390/ijms24043643.

    • Challenges in periodic revision of genetic testing results: comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 Variants of Uncertain Significance.
    • Finger Andreis T, Isabel Weber de Souza K, Araujo Vieira I, Alemar B, Sinigaglia M, Marinho de Araújo Rocha Y, Artigalás O, Bittar C, Brinckmann Oliveira Netto C, Ashton-Prolla P, Rosset C.
    • Gene. 2023 Feb 10:147281. doi: 10.1016/j.gene.2023.147281. Epub ahead of print.

    • Evaluation of AlphaFold Structure-based Protein Stability Prediction on Missense Variations in Cancer.
    • Karakoyun HK, Yuksel SK, Amanoglu I, Naserikhojasteh L, Yakicier C, Yesilyurt A, Timucin E, Akyerli CB.
    • Front Genet. 2023 Feb 8;14:1052383. doi: 10.3389/fgene.2023.1052383.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Breast Cancer Res. 2023 Feb 10;25(1):18. doi: 10.1186/s13058-023-01610-x.

    • Prophylactic Radical Fimbriectomy with Delayed Oophorectomy in Women with a High Risk of Developing an Ovarian Carcinoma: Results of a Prospective National Pilot Study.
    • Leblanc E, Narducci F, Ferron G, Mailliez A, Charvolin JY, El Hajj H, Guyon F, Fourchotte V, Lambaudie E, Crouzet A, Fouche Y, Gouy S, Collinet P, Caquant F, Pomel C, Golfier F, Vaini-Cowen V, Fournier I, Salzet M, Tresch E, Probst A, Lemaire AS, Le Deley MC, Hudry D.
    • Cancers (Basel). 2023 Feb 10;15(4):1141. doi: 10.3390/cancers15041141.

    Related:

    •• Identifier: NCT01608074: Radical Fimbriectomy for Young BRCA Mutation Carriers (Fimbriectomy). (ClinicalTrials.gov . Accessed 2023 Feb 12.)

    • LitAlert ~~ GeneLit.com

    • Dr. Walden on the RNA Expression of Homologous Recombination Genes in CRC.
    • Walden D.
    • OncLive. OncLive TV. 2023 Feb 10.

    • Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.
    • Würtemberger J, Ripperger T, Vokuhl C, Bauer S, Teichert-von Lüttichau I, Wardelmann E, Niemeyer C, Kratz CP, Schlegelberger B, Hettmer S.
    • Eur J Med Genet. 2023 Feb 8:104718. doi: 10.1016/j.ejmg.2023.104718. Epub ahead of print.
    • Review

    • Coping Self-Efficacy and Its Relationship with Psychological Morbidity after Genetic Test Result Disclosure: Results from Cancer-Unaffected BRCA1/2 Mutation Carriers.
    • Isselhard A, Lautz Z, Töpper M, Rhiem K, Schmutzler R, Vitinius F, Fischer H, Berger-Höger B, Steckelberg A, Beifus K, Köberlein-Neu J, Stock S.
    • Int J Environ Res Public Health. 2023 Jan 17;20(3):1684. doi: 10.3390/ijerph20031684.

    • LitAlert ~~ GeneLit.com

    • Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows.
    • Wang C, Lu H, Bowen DJ, Xuan Z.
    • Genet Med. 2023 Feb 10:S1098-3600(23)00815-8. doi: 10.1016/j.gim.2023.100802. Epub ahead of print.

    • Breast Cancer Risk Assessment Tools for Stratifying Women into Risk Groups: A Systematic Review.
    • Velentzis LS, Freeman V, Campbell D, Hughes S, Luo Q, Steinberg J, Egger S, Mann GB, Nickson C.
    • Cancers (Basel). 2023 Feb 9;15(4):1124. doi: 10.3390/cancers15041124.

    • Survival outcomes in patients with BRCA mutated, variant of unknown significance, and wild type ovarian cancer treated with PARP inhibitors.
    • Musacchio L, Boccia S, Marchetti C, Minucci A, Camarda F, Cassani C, Ventriglia J, Salutari V, Ghizzoni V, Giudice E, Perri MT, Carbone MV, Ricci C, Pignata S, Fagotti A, Scambia G, Lorusso D.
    • Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-003903. doi: 10.1136/ijgc-2022-003903. Epub ahead of print.

    • Clinical and molecular signature of survival and resistance to olaparib plus pegylated liposomal doxorubicin in platinum-resistant ovarian cancer: a stratified analysis from the phase II clinical trial ROLANDO, GEICO-1601.
    • Perez-Fidalgo JA, Guerra E, García Y, Iglesias M, Hernández-Sosa M, Estevez-García P, Manso Sánchez L, Santaballa A, Oaknin A, Redondo A, Rubio MJ, González-Martín A.
    • Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-004028. doi: 10.1136/ijgc-2022-004028. Epub ahead of print.

    • Counselling of path_BRCA carriers who are considering risk-reducing oophorectomy.
    • Manley K, Ryan N, Jenner A, Newton C, Hillard T.
    • Post Reprod Health. 2023 Feb 9:20533691231156640. doi: 10.1177/20533691231156640. Epub ahead of print.

    • 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.

    • Radiotherapy, PARP Inhibition, and Immune-Checkpoint Blockade: A Triad to Overcome the Double-Edged Effects of Each Single Player.
    • Rosado MM, Pioli C.
    • Cancers (Basel). 2023 Feb 8;15(4):1093. doi: 10.3390/cancers15041093.

    • 2022 : nouvelles pratiques thérapeutiques en oncologie mammaire [2022: New therapeutic practices in breast oncology].
    • Deluche E, Verret B.
    • Bull Cancer. 2023 Feb 7:S0007-4551(23)00036-X. French. doi: 10.1016/j.bulcan.2023.01.002. Epub ahead of print.
    • Review. [Article in French]

    • 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.

    • LitAlert ~~ GeneLit.com

    • Homologous repair deficiency-associated genes in invasive breast cancer revealed by WGCNA co-expression network analysis and genetic perturbation similarity analysis.
    • Chen H, Liu Y, Yin Z, Chen H, Wang Y, Qian Y.
    • Cell Cycle. 2023 Feb 9:1-24. doi: 10.1080/15384101.2023.2174339. Epub ahead of print.

    • Synergistic effect of PARP inhibitor and BRD4 inhibitor in multiple models of ovarian cancer.
    • Huang Y, Liu C, You L, Li X, Chen G, Fan J.
    • J Cell Mol Med. 2023 Feb 8. doi: 10.1111/jcmm.17683. Epub ahead of print.

    • Dr. Choudhury on the Potential Benefit of PARP Inhibitor Use in mCRPC.
    • Choudhury AD.
    • OncLive. OncLive TV. 2023 Feb 8.

    • Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
    • Rao ND, Shirts BH.
    • PLoS One. 2023 Feb 8;18(2):e0278010. doi: 10.1371/journal.pone.0278010.

    • Olaparib in Patients With Metastatic Prostate Cancer With BRCA1/2 Mutation: Results From the TAPUR Study.
    • Yang ES, Halabi S, Rothe M, Garrett-Mayer E, Mangat PK, Pisick E, Dib E, Burgess EF, Zakem M, Rohatgi N, Bilen MA, O'Lone R, Grantham GN, Schilsky RL.
    • JCO Precis Oncol. 2023 Feb;7:e2200505. doi: 10.1200/PO.22.00505.

    Related:

    •• Identifier: NCT02693535: TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer (TAPUR). (ClinicalTrials.gov . Accessed 2023 Feb 8.)

    • BRCA1/2 pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature.
    • Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Fabas T, Tallet A, Kubiniek V, Pedeutour F, Dadone-Montaudié B.
    • J Invest Dermatol. 2023 Feb 6:S0022-202X(23)00068-4. doi: 10.1016/j.jid.2023.01.014. Epub ahead of print.

    • Current status and future promise of next-generation poly (ADP-Ribose) polymerase 1-selective inhibitor AZD5305.
    • Zheng J, Li Z, Min W.
    • Front Pharmacol. 2023 Jan 23;13:979873. doi: 10.3389/fphar.2022.979873.

    • Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
    • Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
    • Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.

    • LitAlert ~~ GeneLit.com

    • Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female BRCA1 and BRCA2 Carriers: A Single Institution Experience in the Czech Republic.
    • Zimovjanova M, Bielcikova Z, Miskovicova M, Vocka M, Zimovjanova A, Marian Rybar M, Novotny J, Petruzelka L.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041072.

    • Combining Breast Cancer Risk Prediction Models.
    • Guan Z, Huang T, McCarthy AM, Hughes K, Semine A, Uno H, Trippa L, Parmigiani G, Braun D.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041090.

    • 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.

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
    • López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1687. Epub ahead of print.

    • Ki67 as a Predictor of Response to PARP Inhibitors in Platinum Sensitive BRCA Wild Type Ovarian Cancer: The MITO 37 Retrospective Study.
    • Tuninetti V, Ghisoni E, Pignata S, Picardo E, Raspagliesi F, Andreetta C, Maldi E, Artioli G, Mammoliti S, Zanchi L, Sikokis A, Biglia N, Parisi A, Mandato VD, Carella C, Cormio G, Marinaccio M, Puppo A, Paolini B, Borsotti L, Scotto G, Turinetto M, Sangiolo D, Di Maio M, Valabrega G.
    • Cancers (Basel). 2023 Feb 6;15(4):1032. doi: 10.3390/cancers15041032.

    • Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
    • Chang EY, Solomon I, Culver JO, Gorman N, Comeaux JG, Lerman C, Quinn EA, Ekstein T.
    • J Genet Couns. 2023 Feb 6. doi: 10.1002/jgc4.1680. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
    • Hasser E, Peshkin BN, Hamilton JG, Brower J, Ovadia H, Friedman Ross L, Sacca R, Tarini B, Domchek SM, Vittone S, Sleiman M Jr, Isaacs C, Knerr S, Wilfond BS, Tercyak KP.
    • J Genet Couns. 2023 Feb 7. doi: 10.1002/jgc4.1685. Epub ahead of print.

    • 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.

    • 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.

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Oncogenetic pedigrees: Relation between design and ability to predict mutation.
    • Kwiatkowski F, Serlet L, Stos A.
    • Biosystems. 2023 Feb 4:104841. doi: 10.1016/j.biosystems.2023.104841. Epub ahead of print.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Sacituzumab govitecan in metastatic, triple-negative, BRCA-mutant breast cancer patient with active brain metastases: a case report.
    • Di Mauro P, Schivardi G, Pedersini R, Laini L, Esposito A, Amoroso V, Laganà M, Grisanti S, Cosentini D, Berruti A.
    • Front Oncol. 2023 Feb 6;13:1139372. doi: 10.3389/fonc.2023.1139372.

    • Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
    • Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
    • J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.

    • 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.
    • Review

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.
    • Review

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • 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.