Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
    • Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
    • Eur J Cancer. 2022 Nov 8 [2023 Jan 1];179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.

    • Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
    • Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Eur J Cancer. 2022 Nov 13 [2023 Jan 1];179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.

    • Concordance between single-nucleotide polymorphism-based genomic instability assays and a next-generation sequencing-based homologous recombination deficiency test.
    • Cristescu R, Liu XQ, Arreaza G, Chen C, Albright A, Qiu P, Marton MJ.
    • BMC Cancer. 2022 Dec 14;22(1):1310. doi: 10.1186/s12885-022-10197-z.

    • The performance of multi-gene panels for breast/ovarian cancer predisposition.
    • Nunziato M, Luca Scaglione G, Di Maggio F, Nardelli C, Capoluongo E, Salvatore F.
    • Clin Chim Acta. 2022 Dec 12:S0009-8981(22)01409-7. doi: 10.1016/j.cca.2022.12.007. Epub ahead of print.

    • RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
    • Evans DG, Woodward ER.
    • J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.

    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • Clinicopathological features, genetic alterations, and BRCA1 promoter methylation in Japanese male patients with breast cancer.
    • Shimomura A, Yoshida M, Kubo T, Yamashita S, Noguchi E, Nagayama A, Hanamura T, Okazaki M, Mukohara T, Tsuruga A, Tanaka K, Kawamura Y, Higuchi T, Takahashi Y, Kurozumi S, Hayashida T, Ichikawa H, Ushijima T, Suto A.
    • Breast Cancer Res Treat. 2022 Dec 9. doi: 10.1007/s10549-022-06822-x. Epub ahead of print.

    • Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
    • Matsubayashi H, Todaka A, Kawakami T, Hamauchi S, Yokota T, Higashigawa S, Kiyozumi Y, Harada R, Kado N, Nishimura S, Ishiwatari H, Sato J, Niiya F, Ono H, Sugiura T, Sasaki K, Yasui H, Yamazaki K.
    • J Hum Genet. 2022 Dec 8. doi: 10.1038/s10038-022-01097-y. Epub ahead of print.

    • Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
    • Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
    • EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.

    • Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
    • Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
    • Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.

    • Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
    • Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.

    • Case report: Olaparib as an experimental therapy in a BRCA2-mutated patient with metastatic ovarian adenocarcinoma that originated from liver cancer.
    • Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
    • Front Oncol. 2022 Dec 12;12:1010158. doi: 10.3389/fonc.2022.1010158.

    • Myriad Genetics Generates More Data on its PRS's Ability to Identify Who Will Develop Breast Cancer.
    • Ray F.
    • Precision Oncology News. 2022 Dec 12.

    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
    • Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
    • Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.

    • Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
    • Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL.
    • J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1665. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
    • Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
    • J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.

    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.

    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • LitAlert ~~ GeneLit.com

    • Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer.
    • van Wagensveld L, van Baal JOAM, Timmermans M, Gaillard D, Borghuis L, Coffelt SB, Rosenberg EH, Lok CAR, Nijman HW, Kooreman LFS, Sanders J, de Bruijn M, Wessels LFA, van der Wiel R, Rausch C, Broeks A, Kruitwagen RFPM, van der Aa MA, Sonke GS, Schouten PC, Van de Vijver KK, Horlings HM.
    • Cancers (Basel). 2022 Dec 2;14(23):5965. doi: 10.3390/cancers14235965.

    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.

    • LitAlert ~~ GeneLit.com

    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. Epub ahead of print.

    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. Epub ahead of print.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
    • Ben Aissa-Haj J, Pinheiron H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
    • Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.

    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.

    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.

    • Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
    • Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
    • Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.

    • LitAlert ~~ GeneLit.com

    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.

    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.