Category: VUS

    • Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
    • Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract

    • Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
    • Pérez-Ibave DC, Garza-Rodríguez ML, Noriega-Iriondo MF, Flores-Moreno SM, González-Geroniz MI, Espinoza-Velazco A, Castruita-Ávila AL, Alcorta-Núñez F, Zayas-Villanueva OA, González-Guerrero JF, Alcorta-Garza A, Vidal-Gutiérrez O, Burciaga-Flores CH.
    • Genes (Basel). 2023 Jan 28;14(2):341. doi: 10.3390/genes14020341.

    • LitAlert ~~ GeneLit.com

    • 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.

    • 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.

    • 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.

    • 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.

    • 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.

    • 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.

    • A Glance at Molecular Advances in Cancer Genetics: A Baffling Puzzle Still to Be Solved.
    • Ghiorzo P, Bruno W.
    • Int J Mol Sci. 2023 Jan 11;24(2):1394. doi: 10.3390/ijms24021394.

    • LitAlert ~~ GeneLit.com

    • 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.
    • Review

    • Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant.
    • Bang YJ, Kwon WK, Kim JW, Lee JE, Jung BY, Kim M, Kim J, An J, Jung SP, Kim HK, Kim Z, Youn HJ, Ryu JM, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Ann Surg Treat Res. 2022 Dec;103(6):323-330. doi: 10.4174/astr.2022.103.6.323. Epub 2022 Dec 8.