Category: Mutation Spectrum

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    • 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.

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    • Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
    • Yamai T, Ikezawa K, Sugimoto N, Urabe M, Kai Y, Takada R, Nakabori T, Uehara H, Kawamura T, Kunimasa K, Yamamoto S, Wakamatsu T, Hayashi T, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Yamasaki T, Honma K, Ohkawa K.
    • Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.

    • A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
    • Radulovic I, Schündeln MM, Müller L, Ptok J, Honisch E, Niederacher D, Wiek C, Scheckenbach K, Leblanc T, Larcher L, Soulier J, Reinhardt D, Schaal H, Andreassen PR, Hanenberg H.
    • Hum Mol Genet. 2023 Jan 31:ddad017. doi: 10.1093/hmg/ddad017. Epub ahead of print.

    • Frequency of serous tubal intraepithelial carcinoma (STIC) in patients with high grade serous ovarian cancer.
    • Byun JM, Cho HJ, Lee DS, Yoon HK, Kim YN, Im DH, Kim DH, Lee KB, Sung MS, Jeong DH.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):107-111. doi: 10.1016/j.tjog.2022.09.006.

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    • Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.
    • Lehman B, Matthäi E, Gercke N, Denzer UW, Figiel J, Hess T, Slater EP, Bartsch DK.
    • Fam Cancer. 2023 Jan 31. doi: 10.1007/s10689-023-00328-1. Epub ahead of print.

    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
    • Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.

    • Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
    • Han S, Camp SY, Chu H, Collins R, Gillani R, Park J, Bakouny Z, Ricker CA, Reardon B, Moore N, Kofman E, Labaki C, Braun D, Choueiri TK, AlDubayan SH, Van Allen EM.
    • medRxiv [Preprint]. 2023 Jan 19:2023.01.18.23284664. doi: 10.1101/2023.01.18.23284664.

    • Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
    • Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract

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    • Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
    • Pérez-Ibave DC, Garza-Rodríguez ML, Noriega-Iriondo MF, Flores-Moreno SM, González-Geroniz MI, Espinoza-Velazco A, Castruita-Ávila AL, Alcorta-Núñez F, Zayas-Villanueva OA, González-Guerrero JF, Alcorta-Garza A, Vidal-Gutiérrez O, Burciaga-Flores CH.
    • Genes (Basel). 2023 Jan 28;14(2):341. doi: 10.3390/genes14020341.

    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.

    • MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.
    • Shao Z, Yu J, Cheng Y, Ma W, Liu P, Lu H.
    • BMC Cancer. 2023 Jan 27;23(1):97. doi: 10.1186/s12885-023-10555-5.

    • Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
    • Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract

    • LitAlert ~~ GeneLit.com

    • Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.
    • Pérez-Ibave DC, Garza-Rodríguez ML, Noriega-Iriondo MF, Flores-Moreno SM, González-Geroniz MI, Espinoza-Velazco A, Castruita-Ávila AL, Alcorta-Núñez F, Zayas-Villanueva OA, González-Guerrero JF, Alcorta-Garza A, Vidal-Gutiérrez O, Burciaga-Flores CH.
    • Genes (Basel). 2023 Jan 28;14(2):341. doi: 10.3390/genes14020341.

    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.

    • Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
    • Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract

    • LitAlert ~~ GeneLit.com

    • Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer.
    • Liu J, Mroczek M, Mach A, Stępień M, Aplas A, Pronobis-Szczylik B, Bukowski S, Mielczarek M, Gajewska E, Topolski P, Król ZJ, Szyda J, Dobosz P.
    • Cancers (Basel). 2023 Jan 27;15(3):779. doi: 10.3390/cancers15030779.

    • Das hereditäre diffuse Magenkarzinom [Hereditary diffuse gastric cancer].
    • Knipper K, Fuchs HF, Alakus H, Bruns CJ, Schmidt T.
    • Chirurgie (Heidelb). 2023 Jan 26. German. doi: 10.1007/s00104-023-01806-z. Epub ahead of print.
    • Review. [Article in German]

    • LitAlert ~~ GeneLit.com

    • Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
    • Díaz Velásquez CE, Gitler R, Antoniano A, Kershenovich Sefchovich R, De La Cruz Montoya A, Martínez Gregorio H, Rojas Jiménez EA, Cortez Cardoso Penha R, Terrazas LI, Wegman-Ostrosky T, Levi-Lahad E, Zabaleta J, Perdomo S, Paniagua FV.
    • Front Genet. 2023 Jan 24;14:1094260. doi: 10.3389/fgene.2023.1094260.

    • Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.
    • Wei B, Gu J, Gao B, Bao Y, Duan R, Li Q, Xie F.
    • Br J Dermatol. 2023 Jan 23;188(1):64-74. doi: 10.1093/bjd/ljac020.

    • Actionable pathogenic germline variants discovered by panel-based hereditary cancer testing in families with previously identified pathogenic variants. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Neumann C, Mcsweeny M, Rainey K, Campbell H, Nguyen C, Hall M.
    • Fam Cancer. [P-13: Research Categories » Counseling, Behavioral Health, Psychosocial, and Survivorship.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract

    • Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
    • Lopes Cardozo JMN, Andrulis IL, Bojesen SE, Dörk T, Eccles DM, Fasching PA, Hooning MJ, Keeman R, Nevanlinna H, Rutgers EJT, Easton DF, Hall P, Pharoah PDP, van 't Veer LJ, Schmidt MK; Breast Cancer Association Consortium and MINDACT Collaborators.
    • J Clin Oncol. 2023 Jan 23:JCO2201978. doi: 10.1200/JCO.22.01978. Epub ahead of print.

    • Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue.
    • Yang P, Xu N, Su Y, Duan C, Wang S, Fu L, Yu T, Guo R, Ma X.
    • Front Oncol. 2023 Jan 4;12:934882. doi: 10.3389/fonc.2022.934882.

    • Outcomes of Universal Point-of-Care Genetic Testing in Diverse Patients With Pancreatic Ductal Adenocarcinoma.
    • Drogan CM, Kindler HL, Gao G, Kupfer SS.
    • JCO Precis Oncol. 2023 Jan;7:e2200196. doi: 10.1200/PO.22.00196.

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    • Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Schlecht H, Jayson GC, Evans DGR.
    • Cancers (Basel). 2023 Jan 25;15(3):730. doi: 10.3390/cancers15030730.

    • Poor response to sintilimab plus chemotherapy in a pulmonary epithelioid hemangioendothelioma patient: a case report.
    • Zeng H, Tang X, Tian X, Liu Y, Tian P.
    • Immunotherapy. 2023 Jan 25. doi: 10.2217/imt-2022-0073. Epub ahead of print.
    • Case report

    • Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
    • McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE.
    • Clin Cancer Res. 2023 Jan 24:ccr.22.2482. doi: 10.1158/1078-0432.CCR-22-2482. Epub ahead of print.