Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • What Do We Have to Know about PD-L1 Expression in Prostate Cancer? A Systematic Literature Review. Part 6: Correlation of PD-L1 Expression with the Status of Mismatch Repair System, BRCA, PTEN, and Other Genes.
    • Palicelli A, Croci S, Bisagni A, Zanetti E, De Biase D, Melli B, Sanguedolce F, Ragazzi M, Zanelli M, Chaux A, Cañete-Portillo S, Bonasoni MP, Ascani S, De Leo A, Giordano G, Landriscina M, Carrieri G, Cormio L, Gandhi J, Nicoli D, Farnetti E, Piana S, Tafuni A, Bonacini M.
    • Biomedicines. 2022 Jan 22;10(2):236. doi: 10.3390/biomedicines10020236.

    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;10:797505. doi: 10.3389/fonc.2021.797505.

    • Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
    • Kasuga A, Okamoto T, Udagawa S, Mori C, Mie T, Furukawa T, Yamada Y, Takeda T, Matsuyama M, Sasaki T, Ozaka M, Ueki A, Sasahira N.
    • Int J Mol Sci. 2022 Jan 21;23(13):1205. doi: 10.3390/ijms23031205.

    • LitAlert ~~ GeneLit.com

    • Evaluating mismatch repair status to screen clinical advanced breast carcinomas for immunotherapy: experience from a large academic institution.
    • Arole V, Shafi S, Challa B, Parwani AV, Tozbikian G, Li Z.
    • Clin Breast Cancer. 2022 Jan 21:S1526-8209(22)00022-2. doi: 10.1016/j.clbc.2022.01.010. Epub ahead of print.

    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.

    • A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
    • Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100078. doi: 10.1016/j.xhgg.2021.100078.

    • LitAlert ~~ GeneLit.com

    • [A Case of Recurrent Breast Cancer with Improving Activities of Daily Living by Olaparib Treatment].
    • Nakagawa T, Oda G, Okamoto K, Ishikawa T, Wakana K, Oshima N.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1556-1558. Japanese.
    • Case report. [Article in Japanese]

    • [Two Cases of Hereditary Breast Cancer in Which Genetic Counseling Was Useful].
    • Sasaki A, Nagata T, Okamoto Y, Watanabe M, Saida Y.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1589-1591. Japanese.
    • Case report. [Article in Japanese]

    • [A Case of Metastatic Breast Cancer with BRCA1 Mutation after Breast Reconstruction and Pregnancy].
    • Suzuki T, Hashimoto N, Yokoyama K, Yoshida T, Yamauchi Y, Sawano T, Ohashi M, Kimura A, Kato M, Umehara Y, Murata A, Takahash K.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1840-1842. Japanese.
    • Case report. [Article in Japanese]

    • [Hereditary Breast and Ovarian Cancer(HBOC)in a Young Adult-A Case Report].
    • Adachi K, Kubota H, Suzuki S, Hirano T, Ishibashi N, Sakurai K.
    • Gan To Kagaku Ryoho. 2021 Dec;48(13):1843-1845. Japanese.
    • Case report. [Article in Japanese]

    • LitAlert ~~ GeneLit.com

    • Case Report: a BRCA2 Mutation Identified through Next Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
    • Bandini E, Cangini I, Arcangeli V, Ravegnani M, Andreotti V, Prisinzano G, Pastorino L, Martinelli G, Falcini F, Calistri D, Zampiga V, Danesi R.
    • Front Oncol. 2022 Jan 19;10:835346. doi: 10.3389/fonc.2022.835346.

    • Real-world homologous recombination repair mutation testing in metastatic castration-resistant prostate cancer in the USA, Europe and Japan.
    • Leith A, Ribbands A, Kim J, Last M, Barlow S, Yang L, Ghate SR.
    • Future Oncol. 2022 Jan 19. doi: 10.2217/fon-2021-1113. Epub ahead of print.

    • The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
    • Vanni VS, Campo G, Cioffi R, Papaleo E, Salonia A, Viganò P, Lambertini M, Candiani M, Meirow D, Orvieto R.
    • Hum Reprod Update. 2022 Jan 19:dmab045. doi: 10.1093/humupd/dmab045. Epub ahead of print.
    • Review

    • Rare germline copy number variants (CNVs) and breast cancer risk.
    • Dennis J, Tyrer JP, Walker LC, Michailidou K, Dorling L, Bolla MK, Wang Q, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Freeman LEB, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brenner H, Castelao JE, Chang-Claude J, Chenevix-Trench G, Clarke CL; NBCS Collaborators, Collée JM; CTS Consortium, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dossus L, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Figueroa J, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hall P, Hollestelle A, Hoppe R, Hopper JL, Howell A; ABCTB Investigators; kConFab/AOCS Investigators, Jager A, Jakubowska A, John EM, Johnson N, Jones ME, Jung A, Kaaks R, Keeman R, Khusnutdinova E, Kitahara CM, Ko YD, Kosma VM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Larson NL, Linet M, Ogrodniczak A, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Milne RL, Muranen TA, Murphy RA, Nevanlinna H, Olson JE, Olsson H, Park-Simon TW, Perou CM, Peterlongo P, Plaseska-Karanfilska D, Pylkäs K, Rennert G, Saloustros E, Sandler DP, Sawyer EJ, Schmidt MK, Schmutzler RK, Shibli R, Smeets A, Soucy P, Southey MC, Swerdlow AJ, Tamimi RM, Taylor JA, Teras LR, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, Wendt C, Winqvist R, Wolk A, Yang XR, Zheng W, Ziogas A, Simard J, Dunning AM, Pharoah PDP, Easton DF.
    • Commun Biol. 2022 Jan 18;5(1):65. doi: 10.1038/s42003-021-02990-6.

    • Clinical benefit with PARP inhibitor for pathogenic germline FANCA-mutated relapsed epithelial ovarian cancer: a case report.
    • Qian B, Lu J, Leng W, Yan Z, Chen S, Yi H, Jiang Z.
    • Front Oncol. 2022 Jan 18;10:778545. doi: 10.3389/fonc.2022.778545.

    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky J, Kurian AW.
    • JNCI Cancer Spectr. 2022 Jan 18; pkac002. doi: 10.1093/jncics/pkac002. eCollection 2022 Jan.

    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Jan 17. doi: 10.1002/cam4.4541. Epub ahead of print.

    • Genomic Correlates of Unfavorable Outcome in Locally Advanced Cervical Cancer Treated with Neoadjuvant Chemoradiation.
    • Wei Y, Wei C, Chen L, Liu N, Ou Q, Yin JC, Pang J, Fang Z, Wu X, Wang X, Mu D, Shao Y, Yu J, Yuan S.
    • Cancer Res Treat. 2022 Jan 17. doi: 10.4143/crt.2021.963. Epub ahead of print.

    • Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
    • Eygelaar D, van Rensburg EJ, Joubert F.
    • Sci Rep. 2022 Jan 17;12(1):802. doi: 10.1038/s41598-022-04791-1.

    • Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
    • Lim BWX, Li N, Rowley SM, Thompson ER, McInerny S, Zethoven M, Scott RJ, Devereux L, Sloan EK, James PA, Campbell IG.
    • NPJ Breast Cancer. 2022 Jan 17;8(1):10. doi: 10.1038/s41523-021-00373-y.

    • Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
    • Radmanesh H, Liu D, Geffers R, Shandiz FH, Sadr-Nabavi A, Hillemanns P, Park-Simon TW, Dörk T.
    • Eur J Med Genet. 2022 Jan 12:104425. doi: 10.1016/j.ejmg.2022.104425. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
    • Sculco M, La Vecchia M, Aspesi A, Pinton G, Clavenna MG, Casalone E, Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I.
    • Eur J Cancer. 2022 Mar 1;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub ahead of print.

    • Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
    • Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S; GEMO Study Collaborators; GC-HBOC Study Collaborators; EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J; OPAL Study Group; AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN; KConFab Investigators; HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubinski J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB; OCAC Consortium; CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
    • Eur J Hum Genet. 2022 Jan 14. doi: 10.1038/s41431-021-00987-7. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.
    • Minguillón J, Ramírez MJ, Rovirosa L, Bustamante-Madrid P, Camps-Fajol C, Ruiz de Garibay G, Shimelis H, Montanuy H, Pujol R, Hernandez G, Bogliolo M, Castillo P, Soucy P, Martrat G, Gómez A, Cuadras D, García MJ, Gayarre J, CIMBA, Lázaro C, Benítez J, Couch FJ, Pujana MA, Surrallés J.
    • Cancers (Basel). 2022 Jan 12;14(2):353. doi: 10.3390/cancers14020353.

    • Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.
    • Rajagopal T, Seshachalam A, Jothi A, Rathnam KK, Talluri S, Venkatabalasubranian S, Dunna NR.
    • Mol Biol Rep. 2022 Jan 12. doi: 10.1007/s11033-022-07129-2. Epub ahead of print.

    • Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
    • Gun-Bilgic D, Aydin-Gumus A, Bilgic A, Cam FS.
    • Clin Lab. 2022 Jan 1;68(1). doi: 10.7754/Clin.Lab.2021.210425.

    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review

    • LitAlert ~~ GeneLit.com

    • Somatic loss of the remaining allele occurs approximately in half of CHEK2-driven breast cancers and is accompanied by a border-line increase of chromosomal instability.
    • Iyevleva AG, Aleksakhina SN, Sokolenko AP, Baskina SV, Venina AR, Anisimova EI, Bizin IV, Ivantsov AO, Belysheva YV, Chernyakova AP, Togo AV, Imyanitov EN.
    • Breast Cancer Res Treat. 2022 Jan 12. doi: 10.1007/s10549-022-06517-3. Epub ahead of print.

    • Beyond Brca1/2: Homologous Recombination Repair Genetic Profile in A Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.

    • Mutation landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and its relationship with Clinicopathological Characteristics.
    • Qianlan Y, Liu Y, Zhang L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Jan 12;10:709645. doi: 10.3389/fonc.2022.709645.

    • Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.
    • Macquere P, Orazio S, Bonnet F, Jones N, Bubien V, Chiron J, Lafon D, Barouk-Simonet E, Tinat J, Venat-Bouvet L, Gesta P, Longy M, Sevenet N.
    • J Hum Genet. 2022 Jan 12. doi: 10.1038/s10038-022-01014-3. Epub ahead of print.

    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jan 10:ijgc-2021-003082. doi: 10.1136/ijgc-2021-003082. Epub ahead of print.