Category: Mutation Spectrum

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    • Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
    • Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C.
    • Gynecol Oncol. 2021 Jul 15:S0090-8258(21)00531-X. doi: 10.1016/j.ygyno.2021.07.001. Epub ahead of print.

    • 25-year perspective on prostate cancer: Conquering frontiers and understanding tumor biology.
    • Dorff TB, O'Neil B, Hoffman KE, Lin DW, Loughlin KR, Dall'Era M.
    • Urol Oncol. 2021 Jul 12:S1078-1439(21)00175-7. doi: 10.1016/j.urolonc.2021.04.016. Epub ahead of print.
    • Review

    • Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
    • Abdel-Razeq H.
    • Oncol Rev. 2021 Jun 24;15(1):544. doi: 10.4081/oncol.2021.544.

    • Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
    • Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
    • JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.

    Related:

    Commentary:

    Expanding Germline Testing to All Patients With Esophagogastric Cancers-Easy to Do, Harder to Justify.

    Press: Gastric Cancer Cases Frequently Harbor Genetic Risk Variants, Suggesting Germline Testing. (GenomeWeb)

    • LitAlert ~~ GeneLit.com

    • The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
    • Shui L, Li X, Peng Y, Tian J, Li S, He D, Li A, Tian B, Li M, Gao H, An N, Yi C, Cao D.
    • J Transl Med. 2021 Jul 12;19(1):301. doi: 10.1186/s12967-021-02972-6.

    • Genetic analysis of functional rare germline variants across 9 cancer types from an electronic health record linked biobank.
    • Shivakumar M, Miller JE, Dasari VR, Zhang Y, Lee MTM, Carey DJ, Gogoi R, Kim D.
    • Cancer Epidemiol Biomarkers Prev. 2021 Jul 8:cebp.EPI-21-0082-E.2021. doi: 10.1158/1055-9965.EPI-21-0082. Epub ahead of print.

    • Olaparib as maintenance therapy and salvage therapy in recurrent ovarian cancer: The early experience in Taiwan.
    • Hsu CC, Pan YB, Lai CH, Chang TC, Yang LY, Chou HH.
    • Taiwan J Obstet Gynecol. 2021 Jul;60(4):634-638. doi: 10.1016/j.tjog.2021.05.010.

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    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.

    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.

    • Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
    • Sekine M, Nishino K, Enomoto T.
    • Genes (Basel). 2021 Jul 8;12(7):1050. doi: 10.3390/genes12071050.

    • BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
    • Chian J, Sinha S, Qin Z, Wang SM.
    • Front Mol Biosci. 2021 Jun 21;8:685174. doi: 10.3389/fmolb.2021.685174.

    • LitAlert ~~ GeneLit.com

    • Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
    • Gregory G, Gupta KD, Meiser B, Barlow-Stewart K, Geelan-Small P, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Antill Y, Salmon L, Smyth C, Young MA, James PA, Yanes T.
    • J Genet Couns. 2021 Jul 5. doi: 10.1002/jgc4.1458. Epub ahead of print.

    • Study: Cancer risks of people with inherited PALB2 mutations.
    • [No author given]
    • FORCE. XRAY. 2021 Jul 1.

    Related:

    Original research:

    Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Jun 17. doi: 10.1016/j.cancergen.2021.06.003. Epub ahead of print.

    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Jun 15;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
    • Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancers (Basel). 2021 Jul 3;13(13):3341. doi: 10.3390/cancers13133341.

    • Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross-sectional survey of health professionals.
    • Smit AK, Sharman AR, Espinoza D, Wallingford C, Young MA, Dunlop K, Tiller J, Newson AJ, Meiser B, Cust AE, Yanes T.
    • Clin Genet. 2021 Jul 3. doi: 10.1111/cge.14025. Epub ahead of print.

    • Circulating tumor DNA reveals genetic traits of patients with intraductal carcinoma of the prostate.
    • Zhao J, Sun G, Zhu S, Dai J, Chen J, Zhang M, Ni Y, Zhang H, Shen P, Zhao X, Zhang B, Pan X, Nie L, Yin X, Liang J, Zhang X, Wang Z, Zhu X, Liao B, Liu Z, Armstrong CM, Gao AC, Huang H, Chen N, Zeng H.
    • BJU Int. 2021 Jun 29. doi: 10.1111/bju.15530. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French COVAR Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.

    • The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre International Retreat.
    • Clark R, Kenk M, McAlpine K, Thain E, Farncombe KM, Pritchard CC, Nussbaum R, Wyatt AW, de Bono J, Vesprini D, Bombard Y, Lorentz J, Narod S, Kim R, Fleshner N.
    • Can Urol Assoc J. 2021 Jun 22. doi: 10.5489/cuaj.7383. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients with Germline Pathogenic Variants in Cancer Predisposition Genes.
    • Liu J, Wang X, Dong L, Huang X, Zhao H, Li J, Huang SK, Yuan P, Wang W, Wang J, Xing Z, Jia Z, Ming Y, Li X, Qin L, Liu G, Wu J, Li Y, Zhang M, Feng K, Ying J, Wang X.
    • Front Oncol. 2021 Jun 21;10:710156. doi: 10.3389/fonc.2021.710156.

    • A karboplatin-kemoterápia hatékonysága egy áttétes, kasztrációrezisztens, BRCA2-mutáció-pozitív prosztatarákos betegben. [Efficacy of carboplatin chemotherapy in a metastatic, castration-resistant, BRCA2 mutation positive prostate cancer patient.]
    • Nagy ND, Fazekas T, Baghy K, Papp G, Csizmarik A, Szucs M, Nyirády P, Szarvas T.
    • Orv Hetil. 2021 Jun 20;162(25):1004-1008. doi: 10.1556/650.2021.32112.

    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.

    • A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.
    • Diossy M, Sztupinszki Z, Borcsok J, Krzystanek M, Tisza V, Spisak S, Rusz O, Timar J, Csabai I, Fillinger J, Moldvay J, Pedersen AG, Szuts D, Szallasi Z.
    • NPJ Precis Oncol. 2021 Jun 18;5(1):55. doi: 10.1038/s41698-021-00199-8.

    • A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults.
    • Jordan F, Huber S, Sommer S, Schenkirsch G, Frühwald MC, Trepel M, Claus R, Kuhlen M.
    • Cancers (Basel). 2021 Jun 17;13(12):3033. doi: 10.3390/cancers13123033.

    • Genetic testing for assessment of lynch syndrome in young patients with polyps.
    • Laish I, Goldberg Y, Friedman E, Kedar I, Katz L, Levi Z, Gingold-Belfer R, Kopylov U, Feldman D, Levi-Reznick G, Half E.
    • Dig Liver Dis. 2021 Jun 17:S1590-8658(21)00305-4. doi: 10.1016/j.dld.2021.05.031. Epub ahead of print.

    • Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
    • Dunn C, Gately L, Gibbs P.
    • JAMA Oncol. 2021 Jun 17. doi: 10.1001/jamaoncol.2021.1904. Epub ahead of print.
    • Letter, Comment

    Related:

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Original research:

    Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021;5:1044. doi: 10.1200/PO.20.00454. Epub 2021 Jun 17.
    • Case report

    • Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
    • Baxter JS, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Brucker SY, Cai Q, Campa D, Canzian F, Castelao JE, Chan TL, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Choi JY, Clarke CL; NBCS Collaborators, Colonna S, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dossus L, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Engel C, Fasching PA, Figueroa J, Flyger H, Gago-Dominguez M, Gao C, García-Closas M, García-Sáenz JA, Ghoussaini M, Giles GG, Goldberg MS, González-Neira A, Guénel P, Gündert M, Haeberle L, Hahnen E, Haiman CA, Hall P, Hamann U, Hartman M, Hatse S, Hauke J, Hollestelle A, Hoppe R, Hopper JL, Hou MF; kConFab Investigators; ABCTB Investigators, Ito H, Iwasaki M, Jager A, Jakubowska A, Janni W, John EM, Joseph V, Jung A, Kaaks R, Kang D, Keeman R, Khusnutdinova E, Kim SW, Kosma VM, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Kwong A, Lacey JV, Lambrechts D, Larson NL, Larsson SC, Le Marchand L, Lejbkowicz F, Li J, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Matsuo K, Mavroudis D, Mayes R, Menon U, Milne RL, Mohd Taib NA, Muir K, Muranen TA, Murphy RA, Nevanlinna H, O'Brien KM, Offit K, Olson JE, Olsson H, Park SK, Park-Simon TW, Patel AV, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Pylkäs K, Rack B, Rennert G, Romero A, Ruebner M, Rüdiger T, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Shah M, Shen CY, Shu XO, Simard J, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Teo SH, Teras LR, Terry MB, Toland AE, Tomlinson I, Truong T, Tseng CC, Untch M, Vachon CM, van den Ouweland AMW, Wang SS, Weinberg CR, Wendt C, Winham SJ, Winqvist R, Wolk A, Wu AH, Yamaji T, Zheng W, Ziogas A, Pharoah PDP, Dunning AM, Easton DF, Pettitt SJ, Lord CJ, Haider S, Orr N, Fletcher O.
    • Am J Hum Genet. 2021 Jun 16:S0002-9297(21)00218-4. doi: 10.1016/j.ajhg.2021.05.013. Epub ahead of print.

    • Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
    • Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME.
    • J Clin Oncol. 2021 Jun 16:JCO2003661. doi: 10.1200/JCO.20.03661. Epub ahead of print.

    • Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
    • Bakos B, Kiss A, Árvai K, Szili B, Deák-Kocsis B, Tobiás B, Putz Z, Ármós R, Balla B, Kósa J, Dank M, Valkusz Z, Takács I, Tabák Á, Lakatos P.
    • BMC Cancer. 2021 Jun 15;21(1):706. doi: 10.1186/s12885-021-08377-4.

    • Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer.
    • Wang A, Everett JN, Chun J, Cen C, Simeone DM, Schnabel F.
    • Sci Rep. 2021 Jun 14;11(1):12491. doi: 10.1038/s41598-021-91971-0.

    • Living Life to its Fullest with an ATM Mutation in a Coronavirus Pandemic.
    • Sandhu S.
    • FORCE. Blog. 2021 Jun 11.

    • Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives.
    • Abdel-Razeq H, Tamimi F, Abujamous L, Edaily S, Abunasser M, Bater R, Salama O.
    • Cancer Manag Res. 2021 Jun 9;13:4597-4604. doi: 10.2147/CMAR.S316470.

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    • Management of Women With Breast Cancer and Pathogenic Variants in Genes Other Than BRCA1 or BRCA2.
    • Robson M.
    • J Clin Oncol. 2021 Jun 9:JCO2100999. doi: 10.1200/JCO.21.00999. Epub ahead of print.
    • Case report

    • Breast Cancer in Togolese Women: Imaging and Clinicopathological Findings.
    • Darré T, Tchaou M, Djiwa T, Douaguibe B, Bassowa A, Adani-Ifé S, Amavi AK, N'Timon B, Amadou A, Simgban P, N'Bortche BK, Amégbor K, Aboubakari AS, Napo-Koura G.
    • Breast Cancer (Auckl). 2021 May 30;15:11782234211020242. doi: 10.1177/11782234211020242.

    • Epidemiology and clinicopathological features of lung cancer in patients with prior history of breast cancer.
    • Wang KY, Newman J, Lee CS, Seetharamu N.
    • SAGE Open Med. 2021 May 25;9:20503121211017757. doi: 10.1177/20503121211017757.