Category: Mutation Spectrum

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    • K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
    • Baughan S, Tainsky MA.
    • Cancers (Basel). 2021 Jan 25;13(3):E447. doi: 10.3390/cancers13030447.

    • A pathogenic germline BRCA2 variant in a patient with hypopharyngeal squamous cell carcinoma.
    • Correa T, Laux DE, Hoffman HT.
    • Clin Case Rep. 2020 Nov 25;9(1):429-432. doi: 10.1002/ccr3.3548. eCollection 2021 Jan.

    • Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
    • Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D.
    • Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.

    • Current practices on genetic testing in ovarian cancer.
    • Fostira F, Papadimitriou M, Papadimitriou C.
    • Ann Transl Med. 2020 Dec;8(24):1703. doi: 10.21037/atm-20-1422.

    • Ovarian cancer risk assessment in the era of next-generation sequencing.
    • Bonadio RC, Crespo JR, Estevez-Diz MDP.
    • Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.

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    • Genetic predisposition to prostate cancer: an update.
    • Raghallaigh HN, Eeles R.
    • Fam Cancer. 2021 Jan 24. doi: 10.1007/s10689-021-00227-3. Epub ahead of print.

    • Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Federico A, Passariello L, Cioffi M, Molinari AM.
    • Med Oncol. 2021 Jan 23;38(2):13. doi: 10.1007/s12032-021-01454-5.

    • CAMK2N1/RUNX3 methylation is an independent prognostic biomarker for progression-free and overall survival of platinum-sensitive epithelial ovarian cancer patients.
    • Heinze K, Rengsberger M, Gajda M, Jansen L, Osmers L, Oliveira-Ferrer L, Schmalfeldt B, Dürst M, Häfner N, Runnebaum IB.
    • Clin Epigenetics. 2021 Jan 22;13(1):15. doi: 10.1186/s13148-021-01006-8.

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    • Frequency of pathogenic germline variants in cancer-susceptibility genes in the Childhood Cancer Survivor Study.
    • Kim J, Matthew G, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade J, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman N, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L.
    • JNCI Cancer Spectr. 2021 Jan 23; pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Jan.

    • Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient and Cohort Level.
    • Zimmermann MT, Mathison AJ, Stodola T, Evans D, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.
    • Front Oncol. 2021 Jan 21;10:606820. doi: 10.3389/fonc.2021.606820.

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    • BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update.
    • Savanevich A, Ashuryk O, Cybulski C, Lubinski J, Gronwald J.
    • Hered Cancer Clin Pract. 2021 Jan 21;19(1):13. doi: 10.1186/s13053-021-00169-y.

    • Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
    • Walsh T, Gulsuner S, Lee MK, Troester MA, Olshan AF, Earp HS, Perou CM, King MC.
    • NPJ Breast Cancer. 2021 Jan 21;7(1):6. doi: 10.1038/s41523-020-00214-4.

    • A Population-Based Study of Genes Previously Implicated in Breast Cancer.
    • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ.
    • N Engl J Med. 2021 Jan 20. doi: 10.1056/NEJMoa2005936. Epub ahead of print.

    Related:

    Editorial:

    Which Genes for Hereditary Breast Cancer?

    • Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
    • Breast Cancer Association Consortium, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, Törngren T, Harrington PA, Baynes C, Conroy DM, Decker B, Fachal L, Mavaddat N, Ahearn T, Aittomäki K, Antonenkova NN, Arnold N, Arveux P, Ausems MGEM, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bogdanova-Markov N, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Bremer M, Briceno I, Brüning T, Burwinkel B, Cameron DA, Camp NJ, Campbell A, Carracedo A, Castelao JE, Cessna MH, Chanock SJ, Christiansen H, Collée JM, Cordina-Duverger E, Cornelissen S, Czene K, Dörk T, Ekici AB, Engel C, Eriksson M, Fasching PA, Figueroa J, Flyger H, Försti A, Gabrielson M, Gago-Dominguez M, Georgoulias V, Gil F, Giles GG, Glendon G, Garcia EBG, Alnæs GIG, Guénel P, Hadjisavvas A, Haeberle L, Hahnen E, Hall P, Hamann U, Harkness EF, Hartikainen JM, Hartman M, He W, Heemskerk-Gerritsen BAM, Hillemanns P, Hogervorst FBL, Hollestelle A, Ho WK, Hooning MJ, Howell A, Humphreys K, Idris F, Jakubowska A, Jung A, Kapoor PM, Kerin MJ, Khusnutdinova E, Kim SW, Ko YD, Kosma VM, Kristensen VN, Kyriacou K, Lakeman IMM, Lee JW, Lee MH, Li J, Lindblom A, Lo WY, Loizidou MA, Lophatananon A, Lubinski J, MacInnis RJ, Madsen MJ, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Maurer T, Mavroudis D, McLean C, Meindl A, Mensenkamp AR, Michailidou K, Miller N, Mohd Taib NA, Muir K, Mulligan AM, Nevanlinna H, Newman WG, Nordestgaard BG, Ng PS, Oosterwijk JC, Park SK, Park-Simon TW, Perez JIA, Peterlongo P, Porteous DJ, Prajzendanc K, Prokofyeva D, Radice P, Rashid MU, Rhenius V, Rookus MA, Rüdiger T, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Schürmann P, Shah M, Sohn C, Southey MC, Surowy H, Suvanto M, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tzardi M, Valova Y, van Asperen CJ, Van Dam RM, van den Ouweland AMW, van der Kolk LE, van Veen EM, Wendt C, Williams JA, Yang XR, Yoon SY, Zamora MP, Evans DG, de la Hoya M, Simard J, Antoniou AC, Borg Å, Andrulis IL, Chang-Claude J, García-Closas M, Chenevix-Trench G, Milne RL, Pharoah PDP, Schmidt MK, Spurdle AB, Vreeswijk MPG, Benitez J, Dunning AM, Kvist A, Teo SH, Devilee P, Easton DF.
    • N Engl J Med. 2021 Jan 20. doi: 10.1056/NEJMoa1913948. Epub ahead of print.

    Related:

    Editorial:

    Which Genes for Hereditary Breast Cancer?

    • Four novel BRCA variants found in Chinese hereditary breast cancer patients by next-generation sequencing.
    • Liu PF, Zhuo ZL, Xie F, Wang S, Zhao XT.
    • Clin Chim Acta. 2021 Jan 18:S0009-8981(21)00019-X. doi: 10.1016/j.cca.2021.01.010. Epub ahead of print.

    • A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient.
    • Kwong A, Ho CYS, Shin VY, Au CH, Chan TL, Ma ESK.
    • Int J Mol Sci. 2021 Jan 17;22(2):E889. doi: 10.3390/ijms22020889.

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    • Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
    • Nix P, Mundt E, Coffee B, Goossen E, Warf BM, Brown K, Bowles K, Roa B.
    • Fam Cancer. 2021 Jan 20. doi: 10.1007/s10689-020-00224-y. Epub ahead of print.

    • Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.
    • Velthuizen ME, van der Luijt RB, de Vries BJ, Koudijs MJ, Bleiker EMA, Ausems MGEM.
    • Hered Cancer Clin Pract. 2021 Jan 19;19:9. doi: 10.1186/s13053-021-00166-1.

    • A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.
    • Loza P, Irmejs A, Daneberga Z, Miklasevics E, Berga-Svitina E, Subatniece S, Maksimenko J, Trofimovics G, Tauvena E, Ukleikins S, Gardovskis J.
    • Hered Cancer Clin Pract. 2021 Jan 19;19:11. doi: 10.1186/s13053-021-00168-z.

    • Diagnostic and therapeutic ERß, HER2, BRCA biomakers in the histological subtypes of lung adenocarcinoma according to the IASLC/ATS/ERS classification.
    • Zhong L, Zhang C, Jia W, Zhang P.
    • Ann Diagn Pathol. 2021 Jan 12;51:151700. doi: 10.1016/j.anndiagpath.2020.151700. Epub ahead of print.

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    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report

    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
    • Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, Zhang Y, Bai Z, Zhou Q, Wu Y, Shen Y, Weng X, Liu F, Guo J, Di L, Gires O, Zhang Z, Chen Y, Wang H.
    • J Hematol Oncol. 2021 Jan 18;14(1):18. doi: 10.1186/s13045-020-01010-0.

    • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
    • Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.
    • J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.
    • Case report

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    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Jan 16. doi: 10.1007/s10549-020-06066-7. Epub ahead of print.

    • Morbidity, risk of cancer and mortality in 3,645 HFE mutations carriers.
    • Hagström H, Ndegwa N, Jalmeus M, Ekstedt M, Posserud I, Rorsman F, Nyhlin N, Klintman D, Werner M, Marschall HU, Askling J, Stål P; Swedish Hepatology Study Group (SweHep).
    • Liver Int. 2021 Jan 15. doi: 10.1111/liv.14792. Epub ahead of print.

    • Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
    • Lepkes L, Kayali M,, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C.
    • Cancers (Basel). 2021 Jan 1;13(1):E118. doi: 10.3390/cancers13010118.

    • Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
    • Fransson S, Martinez-Monleon A, Johansson M, Sjöberg RM, Björklund C, Ljungman G, Ek T, Kogner P, Martinsson T.
    • Sci Rep. 2020 Dec 31;10(1):22432. doi: 10.1038/s41598-020-78370-7.

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    • DNA Methylation in Ovarian Cancer Susceptibility.
    • Reid BM, Fridley BL.
    • Cancers (Basel). 2020 Dec 31;13(1):E108. doi: 10.3390/cancers13010108.

    • Niraparib as Maintenance Therapy in Germline ATM-mutated and Somatic BRCA2-mutated Ovarian Cancer with Brain Metastases: A Case Report and Literature Review.
    • Tao M, Cheng J, Wu X.
    • Onco Targets Ther. 2020 Dec 18;13:12979-12986. doi: 10.2147/OTT.S281302.

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    • Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.
    • Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E.
    • J Natl Cancer Inst. 2020 Dec 29. pii: djaa203. doi: 10.1093/jnci/djaa203. [Epub ahead of print]

    • Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
    • Hodan R, Kingham K, Cotter K, Folkins AK, Kurian AW, Ford JM, Longacre T.
    • Cancer Med. 2020 Dec 25. doi: 10.1002/cam4.3688. Epub ahead of print.

    • Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report.
    • Di Marco M, Carloni R, De Lorenzo S, Mosconi C, Palloni A, Grassi E, Filippini DM, Ricci AD, Rizzo A, Di Federico A, Santini D, Turchetti D, Ricci C, Ingaldi C, Alberici L, Minni F, Golfieri R, Brandi G, Casadei R.
    • World J Gastrointest Oncol. 2020 Dec 15;12(12):1456-1463. doi: 10.4251/wjgo.v12.i12.1456.