Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations.
    • Rajwa P, Quhal F, Pradere B, Gandaglia G, Ploussard G, Leapman MS, Gore JL, Paradysz A, Tilki D, Merseburger AS, Morgan TM, Briganti A, Palapattu GS, Shariat SF.
    • Nat Rev Urol. 2023 Jan 4. doi: 10.1038/s41585-022-00680-4. Epub ahead of print.
    • Review

    • 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.

    • LitAlert ~~ GeneLit.com

    • Association of a novel BRCA2 mutation with prostate cancer risk further supports germline genetic testing.
    • Foley GR, Marthick JR, Ostrander EA, Stanford JL, Dickinson JL, FitzGerald L.
    • Eur J Cancer. 2023 Feb 1;180:155-157. doi: 10.1016/j.ejca.2022.11.034. Epub ahead of print.
    • Case report

    • Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
    • Mandelker D, Marra A, Mehta N, Selenica P, Yelskaya Z, Yang C, Somar J, Mehine M, Misyura M, Basturk O, Latham A, Carlo M, Walsh M, Stadler ZK, Offit K, Bandlamudi C, Hameed M, Chi P, Reis-Filho JS, Ceyhan-Birsoy O.
    • NPJ Precis Oncol. 2023 Jan 2;7(1):1. doi: 10.1038/s41698-022-00342-z.

    • Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
    • Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
    • J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.

    • Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
    • Cioffi A, De Cobelli O, Veronesi P, La Vecchia C, Maisonneuve P, Corso G.
    • Cancers (Basel). 2023 Jan 2;15(1):306. doi: 10.3390/cancers15010306.

    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.

    • LitAlert ~~ GeneLit.com

    • How the Analysis of the Pathogenetic Variants of DDR Genes Will Change the Management of Prostate Cancer Patients.
    • Sciarra A, Frisenda M, Bevilacqua G, Gentilucci A, Cattarino S, Mariotti G, Del Giudice F, Di Pierro GB, Viscuso P, Casale P, I. Chung BI, Autorino R, Crivellaro S, Salciccia S.
    • Int J Mol Sci. 2022 Dec 30;24(1):674. doi: 10.3390/ijms24010674.

    • Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
    • Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.

    • Germline variants associated with breast cancer in Khakass women of North Asia.
    • Gervas P, Molokov A, Zarubin A, Topolnitskiy E, Shefer N, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2022 Dec 28. doi: 10.1007/s11033-022-08215-1. Epub ahead of print.

    • The therapeutic relevance of a BRCA2 mutation in a patient with recurrent thymoma: a case report.
    • Sigurdson S, Marom EM, Rimner A, Shepherd A, Szolkowska M, Roden AC, Marino M, Tomiyama N, Ball D, Falkson C, Rajan A.
    • Mediastinum. 2022 Dec 25;6:40. doi: 10.21037/med-22-9.

    • Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
    • Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
    • Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.

    • A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
    • Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K.
    • J Mol Diagn. 2022 Dec 20:S1525-1578(22)00348-8. doi: 10.1016/j.jmoldx.2022.12.002. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Development and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort study.
    • Ohbe H, Hachiya T, Yamaji T, Nakano S, Miyamoto Y, Sutoh Y, Otsuka-Yamasaki Y, Shimizu A, Yasunaga H, Sawada N, Inoue M, Tsugane S, Iwasaki M; for the Japan Public Health Center-based Prospective Study Group.
    • Breast Cancer Res Treat. 2022 Dec 20. doi: 10.1007/s10549-022-06843-6. Epub ahead of print.

    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.

    • In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
    • Barua SA, Goswami N, Mishra N, Sawant UU, Varma AK.
    • ACS Omega. 2022 Nov 28;7(49):44772-44785. doi: 10.1021/acsomega.2c04782.

    • Predictive factors for relapse in triple-negative breast cancer patients without pathological complete response after neoadjuvant chemotherapy.
    • Toss A, Venturelli M, Civallero M, Piombino C, Domati F, Ficarra G, Combi F, Cabitza E, Caggia F, Barbieri E, Barbolini M, Moscetti L, Omarini C, Piacentini F, Tazzioli G, Dominici M, Cortesi L.
    • Front Oncol. 2022 Dec 1;12:1016295. doi: 10.3389/fonc.2022.1016295.

    • LitAlert ~~ GeneLit.com

    • Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
    • Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P.
    • Eur J Hum Genet. 2022 Dec 19. doi: 10.1038/s41431-022-01270-z. Epub ahead of print.
    • Case report

    • Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
    • Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C.
    • Ann Oncol. 2022 Dec 15:S0923-7534(22)04771-8. doi: 10.1016/j.annonc.2022.12.003. Epub ahead of print.

    • Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
    • Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
    • World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.