Category: Mutation Spectrum

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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.

    • 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.

    • The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
    • Mroczek M, Liu J, Sypniewski M, Pieńkowski T, Itrych B, Stojak J, Pronobis-Szczylik B, Stępień M, Kaja E, Dąbrowski M, Suchocki T, Wojtaszewska M, Zawadzki P, Mach A, Sztromwasser P, Król ZJ, Szyda J, Dobosz P.
    • Front Oncol. 2023 Jan 9;13:1045817. doi: 10.3389/fonc.2023.1045817.

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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.

    • 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.

    • 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.

    • Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model.
    • Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF.
    • Cancer Epidemiol Biomarkers Prev. 2023 Jan 13:EPI-22-0756. doi: 10.1158/1055-9965.EPI-22-0756. Epub ahead of print.

    • Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
    • Kwon DH, Gordon KM, Tong B, Borno HT, Beigh M, Fattah D, Schleicher A, Aggarwal RR, Blanco AM, Small EJ, Dhawan M.
    • JCO Oncol Pract. 2023 Jan 12:OP2200638. doi: 10.1200/OP.22.00638. Epub ahead of print.

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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.

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

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    •• 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.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • 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.

    • 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.

    • 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.

    • LitAlert ~~ GeneLit.com

    • The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
    • Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
    • Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
    • Review

    • Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
    • Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
    • Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Polygenic risk scores and breast cancer risk prediction.
    • Roberts E, Howell S, Evans G.
    • Breast. 2022 Jan 9:S0960-9776(23)00003-6. doi: 10.1016/j.breast.2023.01.003. Epub ahead of print.

    • Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
    • Kim J, Jeong K, Jun H, Kim K, Bae JM, Song MG, Yi H, Park S, Woo GU, Lee DW, Kim TY, Lee KH, Im SA.
    • Hum Genomics. 2023 Jan 6;17(1):2. doi: 10.1186/s40246-022-00447-3.

    • A polygenic two-hit hypothesis for prostate cancer.
    • Houlahan KE, Livingstone J, Fox NS, Kurganovs N, Zhu H, Sietsma Penington J, Jung CH, Yamaguchi TN, Heisler LE, Jovelin R, Costello AJ, Pope BJ, Kishan AU, Corcoran NM, Bristow RG, Waszak SM, Weischenfeldt J, He HH, Hung RJ, Hovens CM, Boutros PC.
    • J Natl Cancer Inst. 2023 Jan 5:djad001. doi: 10.1093/jnci/djad001. Epub ahead of print.

    • Genetic Risk Prediction for Prostate Cancer: Implications for Early Detection and Prevention.
    • Seibert TM, Garraway IP, Plym A, Mahal BA, Giri V, Jacobs MF, Cheng HH, Loeb S, Helfand BT, Eeles RA, Morgan TM.
    • Eur Urol. 2023 Jan 4:S0302-2838(22)02870-6. doi: 10.1016/j.eururo.2022.12.021. Epub ahead of print.
    • Review

    • Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
    • Anaclerio F, PILENZI L, Dell'elice A, Ferrante R, Gildetti S, Ferlito LM, Marinelli C, Calabrese G, Stuppia L, Antonucci I.
    • Front Genet. 2023 Jan 4;12:1060504. doi: 10.3389/fgene.2023.1060504.

    • 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.

    • Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
    • Cheng HH, Sokolova AO, Gulati R, Bowen D, Knerr SA, Klemfuss N, Grivas P, Hsieh A, Lee JK, Schweizer MT, Yezefski T, Zhou A, Yu EY, Nelson PS, Montgomery B.
    • JCO Precis Oncol. 2023 Jan;7:e2200104. doi: 10.1200/PO.22.00104.

    • 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.

    • 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.