Category: Mutation Spectrum

    • 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.

    • PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
    • Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM.
    • Breast Cancer Res Treat. 2022 May 24. doi: 10.1007/s10549-022-06620-5. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 May 24:e1940. doi: 10.1002/mgg3.1940. Epub ahead of print.

    • Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
    • Van Baelen K, Geukens T, Maetens M, Tjan-Heijnen V, Lord CJ, Linn S, Bidard FC, Richard F, Yang WW, Steele RE, Pettitt SJ, Van Ongeval C, De Schepper M, Isnaldi E, Nevelsteen I, Smeets A, Punie K, Voorwerk L, Wildiers H, Floris G, Vincent-Salomon A, Derksen PWB, Neven P, Senkus E, Sawyer E, Kok M, Desmedt C.
    • Ann Oncol. 2022 May 20:S0923-7534(22)01167-X. doi: 10.1016/j.annonc.2022.05.006. Epub ahead of print.
    • Review

    • BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.
    • Alvarez C, Ortega-Hernández V, Cortez A, Carvallo P.
    • Mol Biol Rep. 2022 May 21. doi: 10.1007/s11033-022-07561-4. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy.
    • Dettwyler SA, Thull DL, McAuliffe PF, Steiman JG, Johnson RR, Diego EJ, Mai PL.
    • Breast Cancer Res Treat. 2022 May 21. doi: 10.1007/s10549-022-06619-y. Epub ahead of print.

    • Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
    • Yanus GA, Savonevich EL, Sokolenko AP, Romanko AA, Ni VI, Bakaeva EK, Gorustovich OA, Bizin IV, Imyanitov EN.
    • Fam Cancer. 2022 May 21. doi: 10.1007/s10689-022-00296-y. Epub ahead of print.

    • Genomic features of Chinese small cell lung cancer.
    • Liu J, Zhao Z, Wei S, Li B, Zhao Z.
    • BMC Med Genomics. 2022 May 20;15(1):117. doi: 10.1186/s12920-022-01255-3.

    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
    • Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2.

    • LitAlert ~~ GeneLit.com

    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    • Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K.
    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.

    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    Related:

    Ccommentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors.
    • Huszno J, Kolosza Z, Mrochem-Kwarciak J, Grzybowska E.
    • Arch Med Sci. 2022 Apr 14;18(3):800-804. doi: 10.5114/aoms/147736.

    • Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
    • Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators, Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF.
    • Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8.

    • LitAlert ~~ GeneLit.com

    • Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
    • Elalaoui SC, Laarabi FZ, Afif L, Lyahyai J, Ratbi I, Jaouad IC, Doubaj Y, Sahli M, Ouhenach M, Sefiani A.
    • Breast Cancer Res Treat. 2022 May 17. doi: 10.1007/s10549-022-06622-3. Epub ahead of print.

    • Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.
    • Cheng X, Yu H, Li J, Han X, Meng E, Zhou H, Wang D, Niu B, Zhang X.
    • Cancer Biol Ther. 2022 Dec 31 [Published online: 2022 May 16];23(1):393-400. doi: 10.1080/15384047.2022.2072635.

    • Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.
    • Dixon P, Keeney E, Taylor JC, Wordsworth S, Martin RM.
    • Genet Med. 2022 May 16:S1098-3600(22)00749-3. doi: 10.1016/j.gim.2022.04.020. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • BRCA-Mutated Pancreatic Cancer: From Discovery to Novel Treatment Paradigms.
    • Devico Marciano N, Kroening G, Dayyani F, Zell JA, Lee FC, Cho M, Goldstein Valerin J.
    • Cancers (Basel). 2022 May 16;14(10):2453. doi: 10.3390/cancers14102453.

    • Genetic testing for hereditary predisposition to breast cancer in the real world: Initial experience.
    • da Silva Fontinele DR, Assunção Ribeiro da Costa RE, da Silva Magalhães MK, Vieira SC.
    • Breast Dis. 2022;41(1):249-254. doi: 10.3233/BD-210082.