Category: Mutation Spectrum

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    • Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
    • Yim E, Leung D.
    • BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
    • Case report

    • Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.
    • Takahashi N, Hatakeyama K, Nagashima T, Ohshima K, Urakami K, Yamaguchi K, Hirashima Y.
    • Cancer Med. 2022 Jun 8. doi: 10.1002/cam4.4927. Epub ahead of print.

    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report

    • Endometrial Cancer and BRCA Mutations: A Systematic Review.
    • Gasparri ML, Bellaminutti S, Farooqi AA, Cuccu I, Di Donato V, Papadia A.
    • J Clin Med. 2022 May 31;11(11):3114. doi: 10.3390/jcm11113114.

    • LitAlert ~~ GeneLit.com

    • Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
    • Yim E, Leung D.
    • BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
    • Case report

    • Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.
    • Takahashi N, Hatakeyama K, Nagashima T, Ohshima K, Urakami K, Yamaguchi K, Hirashima Y.
    • Cancer Med. 2022 Jun 8. doi: 10.1002/cam4.4927. Epub ahead of print.

    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Pancreatic cancer: Cutaneous metastases, clinical descriptors and outcomes.
    • Gu L, Mehta PP, Rao D, Rotemberg V, Capanu M, Chou J, Lin S, Sigel CS, Busam KJ, Boyce L, Gordon A, O'Reilly EM.
    • Cancer Med. 2022 Jun 6. doi: 10.1002/cam4.4916. Epub ahead of print.

    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.

    • Allele-informed copy number evaluation of plasma DNA samples from metastatic prostate cancer patients: the PCF_SELECT consortium assay.
    • Orlando F, Romanel A, Trujillo B, Sigouros M, Wetterskog D, Quaini O, Leone G, Xiang JZ, Wingate A, Tagawa S, Jayaram A, Linch M; PEACE Consortium, Jamal-Hanjani M, Swanton C, Rubin MA, Wyatt AW, Beltran H, Attard G, Demichelis F.
    • NAR Cancer. 2022 May 27;4(2):zcac016. doi: 10.1093/narcan/zcac016.

    • Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
    • Giri VN, Hartman R, Pritzlaff M, Horton C, Keith SW.
    • JCO Precis Oncol. 2022;6:e2200234. doi: 10.1200/PO.22.00234. Epub 2022 Jun 6.

    • LitAlert ~~ GeneLit.com

    • Germline genetics of prostate cancer.
    • Khan HM, Cheng HH.
    • Prostate. 2022 Aug;82 Suppl 1:S3-S12. doi: 10.1002/pros.24340.

    • Clinical implications of homologous recombination repair mutations in prostate cancer.
    • Cresta Morgado P, Mateo J.
    • Prostate. 2022 Aug;82 Suppl 1:S45-S59. doi: 10.1002/pros.24352.

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    • Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
    • Tiller JM, Cousens NE, Kaur R, Rowley S, Ko YA, Mahale S, Bankier A, Meiser B, Barlow-Stewart K, Burnett L, Jacobs C, James P, Trainer A, Neil S, Campbell IG, Andrews L, Delatycki M.
    • J Med Genet. 2022 Jun 3:jmedgenet-2022-108519. doi: 10.1136/jmedgenet-2022-108519. Epub ahead of print.

    • Breast cancer risk in women from Ghana carrying rare germline pathogenic mutations.
    • Ahearn TU, Pal Choudhury P, Derkach A, Wiafe-Addai B, Awuah B, Yarney J, Edusei L, Titiloye N, Adjei E, Vanderpuye V, Aitpillah F, Dedey F, Oppong J, Osei-Bonsu EB, Duggan MA, Brinton LA, Allen J, Luccarini C, Baynes C, Carvalho S, Dunning AM, Davis Lynn BC, Chanock SJ, Hicks BD, Yeager M, Chatterjee N, Biritwum R, Clegg-Lamptey JN, Nyarko K, Wiafe S, Ansong D, Easton DF, Figueroa JD, Garcia-Closas M.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jun 2:cebp.EPI-21-1397-E.2021-12-9 11:31:59.213. doi: 10.1158/1055-9965.EPI-21-1397. Epub ahead of print.

    • BRCA variants do not increase the risk of adverse reactions in patients with ovarian cancer: A single-center real-world study.
    • LI K, Zeng J, Zhang M, Yin R, Li Z.
    • Front Oncol. 2022 Jun 2;12:807748. doi: 10.3389/fonc.2022.807748.

    • DNA damage repair gene germline profiling for metastatic prostate cancer patients of different ancestries.
    • Abdi B, Basset N, Perrot E, Benderra MA, Khalil A, Oudard S, Blanchet P, Brureau L, Coulet F, Cussenot O, Cancel-Tassin G.
    • Prostate. 2022 Jun 2. doi: 10.1002/pros.24374. Epub ahead of print.

    • The impact of genetic aberrations on response to radium-223 treatment for castration-resistant prostate cancer with bone metastases.
    • Liu AJ, Kosiorek HE, Ueberroth BE, Jaeger E, Ledet E, Kendi AT, Tzou K, Quevedo F, Choo R, Moore CN, Ho TH, Singh P, Keole SR, Wong WW, Sartor O, Bryce AH.
    • Prostate. 2022 Jun 2. doi: 10.1002/pros.24375. Epub ahead of print.

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    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
    • Pintican RM, Chiorean A, Duma M, Feier D, Szep M, Eniu D, Goidescu I, Dudea S.
    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.

    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Li S, Nguyen TL, Nguyen-Dumont T, Dowty JG, Dite GS, Ye Z, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Hopper JL, Southey MC.
    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.

    • BARD1 mystery: tumor suppressors are cancer susceptibility genes.
    • Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE, Alzahrani OR, Oyouni AAA, Babalghith AO, Alreshidi M.
    • BMC Cancer. 2022 Jun 1;22(1):599. doi: 10.1186/s12885-022-09567-4.

    • The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.
    • Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N.
    • Cancer. 2022 Jun 1. doi: 10.1002/cncr.34326. Epub ahead of print

    • Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.
    • Heise M, Jarzemski P, Nowak D, Bak A, Junkiert-Czarnecka A, Pilarska-Deltow M, Borysiak M, Pilarska B, Haus O.
    • Cancer Control. 2022 Jan-Dec [2022 May 31];29:10732748211062342. doi: 10.1177/10732748211062342.

    • Association between Breast Cancer Polygenic Risk Score and Chemotherapy-Induced Febrile Neutropenia: Null Results.
    • Ong SS, Ho PJ, Khng AJ, Lim EH, Wong FY, Tan BKT, Lim SH, Tan EY, Tan SM, Tan VKM, Dent R, Tan TJY, Ngeow J, Madhukumar P, Hamzah JLB, Sim Y, Lim GH, Pang JS, Alcantara VS, Chan PMY, Chen JJC, Kuah S, Seah JCM, Buhari SA, Tang SW, Ng CWQ, Li J, Hartman M.
    • Cancers (Basel). 2022 May 31;14(11):2714. doi: 10.3390/cancers14112714.

    • CHEK2 variants: linking functional impact to cancer risk.
    • Boonen RACM, Vreeswijk MPG, van Attikum H.
    • Trends Cancer. 2022 May 25:S2405-8033(22)00096-6. doi: 10.1016/j.trecan.2022.04.009. Epub ahead of print.

    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.
    • Vargas E, de Deugd R, Villegas VE, Gil F, Mora L, Viaña LF, Bruges R, Gonzalez A, Galvis JC, Hamann U, Torres D.
    • Oncologist. 2022 Mar 4;27(2):e151-e157. doi: 10.1093/oncolo/oyab026.

    • Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.
    • Archer S, Fennell N, Colvin E, Laquindanum R, Mills M, Dennis R, Stutzin Donoso F, Gold R, Fan A, Downes K, Ford J, Antoniou AC, Kurian AW, Evans DG, Tischkowitz M.
    • Cancers (Basel). 2022 May 31;14(11):2716. doi: 10.3390/cancers14112716.

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    • Discovery of BRCA1/BRCA2 Founder Variants by Haplotype Analysis.
    • Kwon WK, Jang HJ, Lee JE, Park YH, Ryu JM, Yu J, Jang JH, Kim JW.
    • Cancer Genet. 2022 May 28. doi: 10.1016/j.cancergen.2022.05.042. Epub ahead of print.

    • Efficacy of Clinical Guidelines in Identifying All Japanese Patients with Hereditary Breast and Ovarian Cancer.
    • Haneda E, Sato A, Suganuma N, Sebata Y, Okamoto S, Toda S, Kohagura K, Matsubara Y, Sugawara Y, Yamanaka T, Yamashita T, Shimizu S, Narimatsu H.
    • Int J Environ Res Public Health. 2022 May 19;19(10):6182. doi: 10.3390/ijerph19106182.

    • TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
    • da Silva PFF, Goveia RM, Teixeira TB, Gamba BF, de Lima AP, Rogatto SR, Silveira-Lacerda EP.
    • Biomolecules. 2022 Apr 27;12(5):640. doi: 10.3390/biom12050640.

    • Complete response to pembrolizumab in a patient with dermatomyositis and MMR deficient ovarian cancer: A Case Report.
    • Valls ML, Kase AM, Patel R, Wang B, Aggarwal R, Colon-Otero G.
    • Gynecol Oncol Rep. 2022 May 25;101010. doi: 10.1016/j.gore.2022.101010.