Category: Genetic Testing

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.

    • Homologous recombination deficiency prediction using low-pass whole genome sequencing in breast cancer.
    • Liu Y, Li Y, Zhang MZ, Chen D, Leng Y, Wang J, Han BW, Wang J.
    • Cancer Genet. 2023 Feb 4;272-273:35-40. doi: 10.1016/j.cancergen.2023.02.001. Epub ahead of print.

    • Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.
    • Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC.
    • Br J Cancer. 2023 Feb 3:1–11. doi: 10.1038/s41416-023-02145-w. Epub ahead of print.

    • 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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    • 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.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. Epub ahead of print.

    • Implementation of BRCA mutations testing in formalin-fixed paraffin-embedded (FFPE) samples of different cancer types.
    • Zannini G, Facchini G, De Sio M, De Vita F, Ronchi A, Orditura M, Vietri MT, Ciardiello F, Franco R, Accardo M, Zito Marino F.
    • Pathol Res Pract. 2023 Jan 23;243:154336. doi: 10.1016/j.prp.2023.154336. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.

    • Improving Uptake of Cancer Genetic Risk Assessment in a Remote Tailored Risk Communication and Navigation Intervention: Large Effect Size but Room to Grow.
    • Kinney AY, Walters ST, Lin Y, Lu SE, Kim A, Ani J, Heidt E, Le Compte CJG, O'Malley D, Stroup A, Paddock LE, Grumet S, Boyce TW, Toppmeyer DL, McDougall JA.
    • J Clin Oncol. 2023 Feb 14:JCO2200751. doi: 10.1200/JCO.22.00751. Epub ahead of print.

    Related:

    •• Identifier: NCT03326713: Genetic Risk Assessment for Cancer Education and Empowerment (GRACE) Project (GRACE). (ClinicalTrials.gov . Accessed 2023 Feb 14.)

    • Mainstream genetic testing for high-grade ovarian, tubal and peritoneal cancers: A tertiary referral centre experience.
    • Srinivasa S, Bowman M, Titterton L, Harnett P, Brand A, Kirk J, Ragunathan A.
    • Aust N Z J Obstet Gynaecol. 2023 Feb 13. doi: 10.1111/ajo.13650. Epub ahead of print.

    • Survey Reveals Changing Genetic Testing Patterns, Persistent Disparities in Precision Oncology.
    • Ray T.
    • Precision Oncology News. 2023 Feb 1.
    • News

    • 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.

    • 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.

    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.

    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.

    • 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

    • 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.

    • 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.

    • A chance in hopeless cancer: 5-year complete remission after oxaliplatin-based therapy in a patient with BRCA2 mutant metastatic pancreatic cancer.
    • Yildirim HC, Ismayilov R, Akyildiz A, Guven DC, Abdurrahimli N, Dizdar O, Yalcin S.
    • Anticancer Drugs. 2022 Dec 19. doi: 10.1097/CAD.0000000000001486. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • 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.

    • 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.)

    • 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.

    • 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

    • Socioeconomic Factors Are Associated With Disparities in Germline Testing in Pancreatic Cancer.
    • King D, Scott R.
    • OncLive. 2023 Feb 5.

    • Mitigating fear of cancer recurrence.
    • Sorscher S.
    • Breast Cancer Res Treat. 2023 Feb 3. doi: 10.1007/s10549-022-06824-9. Epub ahead of print.

    • Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
    • Yamai T, Ikezawa K, Sugimoto N, Urabe M, Kai Y, Takada R, Nakabori T, Uehara H, Kawamura T, Kunimasa K, Yamamoto S, Wakamatsu T, Hayashi T, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Yamasaki T, Honma K, Ohkawa K.
    • Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.

    • Defining genomic, transcriptomic, proteomic, epigenetic, and phenotypic biomarkers with prognostic capability in male breast cancer: a systematic review.
    • Chatterji S, Krzoska E, Thoroughgood CW, Saganty J, Liu P, Elsberger B, Abu-Eid R, Speirs V.
    • Lancet Oncol. 2023 Feb;24(2):e74-e85. doi: 10.1016/S1470-2045(22)00633-7.
    • Review

    Related:

    •• Podcast:

    In conversation with... Valerie Speirs.

    • Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
    • Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.

    • LitAlert ~~ GeneLit.com

    • Germline Testing in Prostate Cancer: Implementation and Disparities of Care.
    • Brown LC, Armstrong AJ.
    • JCO Oncol Pract. 2023 Jan 31:OP2200804. doi: 10.1200/OP.22.00804. Epub ahead of print.

    • Dr. King on Delays in Access to Germline Testing in Pancreatic Cancer.
    • King D.
    • OncLive. OncLive TV. 2023 Jan 31.

    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
    • Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.

    • Variations in Practice and Geographic Disparities Between Dedicated Multidisciplinary Clinics for BRCA1/BRCA2 Mutation Carriers in Israel.
    • Hermann N, Mor P, Kaidar-Person O, Bernstein-Molho R, Brodsky M, Madorsky Feldman D, Flugelman AA, Aboody Nevo H, Meshoulam Avital D, Sklair-Levy M, Friedman E, Allweis TM.
    • Isr Med Assoc J. 2023 Jan;25(1):18-22.