Category: Mutation Spectrum

    • A de novo ERBB3 mutation resulted in Olaparib resistance after successful conversion therapy for a GBC patient bearing BRCA1 mutation.
    • Yang JX, Jia ZY, Liu FT, Wu WG, Li XC, Zou L, Li HF, Zhang F, Bao RF, Peng SY, Lau WY, Liu Y, Li ML, Liu YB.
    • Front Oncol. 2023 Feb 20;13:1078388. doi: 10.3389/fonc.2023.1078388.

    • LitAlert ~~ GeneLit.com

    • Breast Cancer Risk Assessment Tools for Stratifying Women into Risk Groups: A Systematic Review.
    • Velentzis LS, Freeman V, Campbell D, Hughes S, Luo Q, Steinberg J, Egger S, Mann GB, Nickson C.
    • Cancers (Basel). 2023 Feb 9;15(4):1124. doi: 10.3390/cancers15041124.

    • Contralateral lymph node metastasis in recurrent ipsilateral breast cancer with Lynch syndrome: a locoregional event.
    • Zwimpfer TA, Schwab FD, Steffens D, Kaul F, Schmidt N, Geiger J, Geissler F, Heinzelmann-Schwarz V, Weber WP, Kurzeder C.
    • World J Surg Oncol. 2023 Feb 9;21(1):40. doi: 10.1186/s12957-023-02918-w.

    • Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
    • Zou W, Zhang Q, Sun R, Li X, He S.
    • Cancer Epidemiol. 2023 Feb 7;83:102333. doi: 10.1016/j.canep.2023.102333. Epub ahead of print.

    • Atypical ATMs: Broadening the Phenotypic Spectrum of ATM-associated Hereditary Cancer.
    • Borja NA, Silva-Smith R, Huang M, Parekh DJ, Sussman D, Tekin M.
    • Front Oncol. 2023 Feb 3;13:1068110. doi: 10.3389/fonc.2023.1068110.

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    • Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
    • Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
    • J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.

    • Dr. Walden on the RNA Expression of Homologous Recombination Genes in CRC.
    • Walden D.
    • OncLive. OncLive TV. 2023 Feb 10.

    • Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.
    • Würtemberger J, Ripperger T, Vokuhl C, Bauer S, Teichert-von Lüttichau I, Wardelmann E, Niemeyer C, Kratz CP, Schlegelberger B, Hettmer S.
    • Eur J Med Genet. 2023 Feb 8:104718. doi: 10.1016/j.ejmg.2023.104718. Epub ahead of print.
    • Review

    • Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
    • Andrés-Zayas C, Suárez-González J, Chicano-Lavilla M, Bastos Oreiro M, Rodríguez-Macías G, Font López P, Osorio Prendes S, Oarbeascoa Royuela G, García Ramírez P, Nieves Salgado R, Gómez-Centurión I, Carbonell Muñoz D, Muñiz P, Kwon M, Díez-Martín JL, Buño I, Martínez-Laperche C.
    • Cancers (Basel). 2023 Feb 2;15(3):944. doi: 10.3390/cancers15030944.

    • Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
    • Žilovic D, Vaicekauskaite I, Ciurliene R, Sabaliauskaite R, Jarmalaite S.
    • Cancers (Basel). 2023 Jan 30;15(3):868. doi: 10.3390/cancers15030868.

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    • Potential Impact of PI3K-AKT Signaling Pathway Genes, KLF-14, MDM4, miRNAs 27a, miRNA-196a Genetic Alterations in the Predisposition and Progression of Breast Cancer Patients.
    • Alzahrani OR, Mir R, Alatwi HE, Hawsawi YM, Alharbi AA, Alessa AH, Albalawi ES, Elfaki I, Alalawi Y, Moharam L, El-Ghaiesh SH.
    • Cancers (Basel). 2023 Feb 17;15(4):1281. doi: 10.3390/cancers15041281.

    • Das familiäre Pankreaskarzinomsyndrom [Familial pancreatic cancer syndrome].
    • Seifert L, Weitz J.
    • Chirurgie (Heidelb). 2023 Feb 17. German. doi: 10.1007/s00104-023-01819-8. Epub ahead of print.
    • Review. [Article in German]

    • Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.
    • Morales-Pison S, Morales-González S, Fernandez-Ramires R, Tapia JC, Maldonado E, Calaf GM, Jara L.
    • Int J Mol Sci. 2023 Feb 17;24(4):4041. doi: 10.3390/ijms24044041.

    • Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
    • Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM.
    • Eur J Hum Genet. 2023 Feb 16. doi: 10.1038/s41431-023-01284-1. Epub ahead of print.

    • Updates in Gynecologic Care for Individuals with Lynch Syndrome.
    • Underkofler KA, Ring K.
    • Front Oncol. 2023 Feb 16;13:1127683. doi: 10.3389/fonc.2023.1127683.

    • Rucaparib or Physician's Choice in Metastatic Prostate Cancer.
    • Fizazi K, Piulats JM, Reaume MN, Ostler P, McDermott R, Gingerich JR, Pintus E, Sridhar SS, Bambury RM, Emmenegger U, Lindberg H, Morris D, Nolè F, Staffurth J, Redfern C, Sáez MI, Abida W, Daugaard G, Heidenreich A, Krieger L, Sautois B, Loehr A, Despain D, Heyes CA, Watkins SP, Chowdhury S, Ryan CJ, Bryce AH; TRITON3 Investigators.
    • N Engl J Med. 2023 Feb 16. doi: 10.1056/NEJMoa2214676. Epub ahead of print.

    Related:

    •• Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2023 Feb 16.)

    •• Research news: Rucaparib Bests Physician's Choice for BRCA+ mCRPC. (OncLive)

    • Diagnosis, Management, and Surveillance for Patients with PALB2, CHEK2, and ATM Gene Mutations.
    • Fencer MG, Krupa KA, Bleich GC, Grumet S, Eladoumikdachi FG, Kumar S, Kowzun MJ, Potdevin LB.
    • Clin Breast Cancer. 2023 Feb 15:S1526-8209(23)00034-4. doi: 10.1016/j.clbc.2023.02.004. Epub ahead of print.

    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.

    • Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.
    • Alghanim HM, Eltawel M, Alhaidari AI, Alobaid MM, Moghairi AM, Sufiani F, Ahmad N.
    • Pediatr Hematol Oncol. 2023 Feb 2:1-8. doi: 10.1080/08880018.2022.2154417. Epub ahead of print.
    • Case report

    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. Epub ahead of print.

    • Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
    • Rifkin AS, Less EM, Wei J, Shi Z, Zheng SL, Helfand BT, Hulick PJ, Krantz SB, Xu J.
    • Clin Lung Cancer. 2023 Jan 26:S1525-7304(23)00009-8. doi: 10.1016/j.cllc.2023.01.005. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.

    • Early diagnosis of ovarian cancer based on methylation profiles in peripheral blood cell-free DNA: a systematic review.
    • Terp SK, Stoico MP, Dybkær K, Pedersen IS.
    • Clin Epigenetics. 2023 Feb 14;15(1):24. doi: 10.1186/s13148-023-01440-w.

    • Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Breast Cancer Res. 2023 Feb 10;25(1):18. doi: 10.1186/s13058-023-01610-x.

    • LitAlert ~~ GeneLit.com

    • Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
    • Rao ND, Shirts BH.
    • PLoS One. 2023 Feb 8;18(2):e0278010. doi: 10.1371/journal.pone.0278010.

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
    • Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S.
    • Oncotarget. 2023 Feb 7;14:111-125. doi: 10.18632/oncotarget.28358.

    • A matched case-control study of the prognosis of early breast cancer in patients with Li-Fraumeni syndrome (BREAST TP53).
    • Petry V, Colombo Bonadio R, Testa L, Cohn DJBH, Cagnacci A, Campos RG, Cândida Bv Fragoso M, del Pilar Estevez-Diz M.
    • Breast. 2023 Feb 6:S0960-9776(23)00025-5. doi: 10.1016/j.breast.2023.02.002. Epub ahead of print.

    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.

    • BRCA1/2 pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature.
    • Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Fabas T, Tallet A, Kubiniek V, Pedeutour F, Dadone-Montaudié B.
    • J Invest Dermatol. 2023 Feb 6:S0022-202X(23)00068-4. doi: 10.1016/j.jid.2023.01.014. Epub ahead of print.

    • Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
    • Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
    • J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.

    • Hereditary Diffuse Gastric Cancer.
    • Decourtye-Espiard L, Guilford P.
    • Gastroenterology. 2023 Feb 3:S0016-5085(23)00110-5. doi: 10.1053/j.gastro.2023.01.038. Epub ahead of print.
    • Review

    • Pyrosequencing assay for BRCA1 methylation analysis: results from a cross-validation study.
    • Sahnane N, Rivera D, Libera L, Carnevali I, Banelli B, Facchi S, Gismondi V, Paudice M, Cirmena G, Vellone VG, Sessa F, Varesco L, Tibiletti MG.
    • J Mol Diagn. 2023 Feb 3:S1525-1578(23)00005-3. doi: 10.1016/j.jmoldx.2023.01.003. Epub ahead of print.

    • Homologous Recombination Deficiency in Ovarian Cancer: From the Biological Rationale to Current Diagnostic Approaches.
    • Mangogna A, Munari G, Pepe F, Maffii E, Giampaolino P, Ricci G, Fassan M, Malapelle U, Biffi S.>
    • J Pers Med. 2023 Feb 2;13(2):284. doi: 10.3390/jpm13020284.

    • Germline TP53 pathogenic variants and breast cancer: A narrative review.
    • Blondeaux E, Arecco L, Punie K, Graffeo R, Toss A, De Angelis C, Trevisan L, Buzzatti G, Linn SC, Dubsky P, Cruellas M, Partridge AH, Balmaña J, Paluch-Shimon S, Lambertini M.
    • Cancer Treat Rev. 2023 Jan 31;114:102522. doi: 10.1016/j.ctrv.2023.102522. Epub ahead of print.

    • Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
    • Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
    • Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.

    • LitAlert ~~ GeneLit.com

    • Homologous Recombination Inquiry Through Ovarian Malignancy Investigations: JGOG3025 study.
    • Yoshihara K, Baba T, Tokunaga H, Nishino K, Sekine M, Takamatsu S, Matsumura N, Yoshida H, Kajiyama H, Shimada M, Kagimura T, Oda K, Sasajima Y, Yaegashi N, Okamoto A, Sugiyama T, Enomoto T.
    • Cancer Sci. 2023 Feb 6. doi: 10.1111/cas.15747. Epub ahead of print.

    Related:

    •• Identifier: NCT03159572: Homologous Recombination Inquiry Through Ovarian Malignancy Investigations (HITOMI). (ClinicalTrials.gov . Accessed 2023 Feb 7.)

    • Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.
    • Nierenberg JL, Adamson AW, Hu D, Huntsman S, Patrick C, Li M, Steele L, Tong B, Shieh Y, Fejerman L, Gruber SB, Haiman CA, John EM, Kushi LH, Torres-Mejía G, Ricker C, Weitzel JN, Ziv E, Neuhausen SL.
    • medRxiv [Preprint]. 2023 Jan 28:2023.01.25.23284924. doi: 10.1101/2023.01.25.23284924.