Category: Mutation Spectrum

LitAlert ~~ GeneLit.com

    • [Breast and Advanced Ovarian Double Cancer with a BRCA2 Pathogenic Variant-A Case Report].
    • Tanaka Y, Oota R, Takagi Y, Kodama W, Nishimura K, Hamasaki T, Fukino S, Suo K.
    • Gan To Kagaku Ryoho. 2022 Nov;49(11):1271-1273. Japanese.
    • Case report. [Article in Japanese]

    • Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
    • Astiazaran-Symonds E, Graham C, Kim J, Tucker MA, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Sampson JN, Zhu B, Bruno W, Queirolo P, Fornarini G, Sciallero S, Carter B, Hicks B, Hutchinson A, Jones K, Stewart DR, Chanock SJ, Freedman ND, Landi MT, Höiom V, Puig S, Gruis N, Yang XR, Ghiorzo P, Goldstein AM.
    • JCO Precis Oncol. 2022 Nov;6:e2200145. doi: 10.1200/PO.22.00145.

    • LitAlert ~~ GeneLit.com

    • Olaparib as an Experimental Therapy in a BRCA2-mutated Patient with Metastatic Ovarian Adenocarcinoma Originated from Liver Cancer.
    • Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
    • Front Oncol. 2022 Nov 18;12:1010158. doi: 10.3389/fonc.2022.1010158.

    • Avelumab Plus Talazoparib in Patients With BRCA1/2- or ATM-Altered Advanced Solid Tumors: Results From JAVELIN BRCA/ATM, an Open-Label, Multicenter, Phase 2b, Tumor-Agnostic Trial.
    • Schram AM, Colombo N, Arrowsmith E, Narayan V, Yonemori K, Scambia G, Zelnak A, Bauer TM, Jin N, Ulahannan SV, Colleoni M, Aftimos P, Donoghue MTA, Rosen E, Rudneva VA, Telli ML, Domchek SM, Galsky MD, Hoyle M, Chappey C, Stewart R, Blake-Haskins JA, Yap TA.
    • JAMA Oncol. 2022 Nov 17. doi: 10.1001/jamaoncol.2022.5218. Epub ahead of print.

    Related:

    •• Identifier: NCT03565991: Javelin BRCA/ATM: Avelumab Plus Talazoparib in Patients With BRCA or ATM Mutant Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Nov 19.)

    •• Commentary:

    Combining PARP Inhibitor With Immunotherapy-Does the Promise of Preclinical Data Translate to Clinic?

    • LitAlert ~~ GeneLit.com

    • Comparing Characteristics of Pelvic High-grade Serous Carcinomas with and without Breast Cancer Gene Variants on MR Imaging.
    • Saida T, Shikama A, Mori K, Ishiguro T, Minaguchi T, Satoh T, Nakajima T.
    • Magn Reson Med Sci. 2022 Nov 12. doi: 10.2463/mrms.mp.2022-0061. Epub ahead of print.

    • DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN Complex.
    • McCarthy-Leo C, Darwiche F, Tainsky MA.
    • Cancers (Basel). 2022 Oct 27;14(21):5278. doi: 10.3390/cancers14215278.

    • LitAlert ~~ GeneLit.com

    • Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
    • Caliskan S, Akar OS, Gun S, Kefeli M.
    • Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.

    • Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
    • Abdallah N, Purrington KS, Tatineni S, Assad H, Petrucelli N, Simon MS.
    • Cancer Causes Control. 2022 Nov 12. doi: 10.1007/s10552-022-01648-w. Epub ahead of print.

    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.

    • Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
    • Budurlean L, Baker M, Broach J.
    • BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.
    • Case report

    • A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.
    • Kechin A, Boyarskikh U, Barinov A, Tanas A, Kazakova S, Zhevlova A, Khrapov E, Subbotin S, Mishukova O, Kekeeva T, Demidova I, Filipenko M.
    • Breast Cancer Res Treat. 2022 Nov 11. doi: 10.1007/s10549-022-06782-2. Epub ahead of print.

    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.

    • Prostate Cancer Has High Rate of Actionable Mutations, Underscoring Need for Testing.
    • Rosa K, Antonarakis ES.
    • OncLive. 2022 Nov 11.

    • The prevalence of gene mutations in homologous recombination repair pathways in Japanese patients with metastatic castration-resistant prostate cancer in real-world clinical practice: The multi-institutional observational ZENSHIN study.
    • Uemura H, Oya M, Kamoto T, Sugimoto M, Shinozaki K, Morita K, Koto R, Takahashi M, Nii M, Shin E, Nonomura N.
    • Cancer Med. 2022 Nov 10. doi: 10.1002/cam4.5333. Epub ahead of print.

    • Molecular Management of High-Grade Serous Ovarian Carcinoma.
    • Punzón-Jiménez P, Lago V, Domingo S, Simón C, Mas A.
    • Int J Mol Sci. 2022 Nov 9;23(22):13777. doi: 10.3390/ijms232213777.

    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.

    • Partial Reduction in BRCA1 Gene Dose Modulates DNA Replication Stress Level and Thereby Contributes to Sensitivity or Resistance.
    • Classen S, Rahlf E, Jungwirth J, Albers N, Hebestreit LP, Zielinski A, Poole L, Groth M, Koch P, Liehr T, Kankel S, Cordes N, Petersen C, Rothkamm K, Pospiech H, Borgmann K.
    • Int J Mol Sci. 2022 Nov 1;23(21):13363. doi: 10.3390/ijms232113363.

    • LitAlert ~~ GeneLit.com

    • Genome-wide Analysis of Rare Haplotypes Associated with Breast Cancer Risk.
    • Wang F, Moon W, Letsou W, Sapkota Y, Wang Z, Im C, Baedke JL, Robison L, Yasui Y.
    • Cancer Res. 2022 Nov 10:CAN-22-1888. doi: 10.1158/0008-5472.CAN-22-1888. Epub ahead of print.

    • Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics.
    • Jia G, Ping J, Shu X, Yang Y, Cai Q, Kweon SS, Choi JY, Kubo M, Park SK, Bolla MK, Dennis J, Wang Q, Guo X, Li B, Tao R, Aronson KJ, Chan TL, Gao YT, Hartman M, Ho WK, Ito H, Iwasaki M, Iwata H, John EM, Kasuga Y, Kim MK, Kurian AW, Kwong A, Li J, Lophatananon A, Low SK, Mariapun S, Matsuda K, Matsuo K, Muir K, Noh DY, Park B, Park MH, Shen CY, Shin MH, Spinelli JJ, Takahashi A, Tseng C, Tsugane S, Wu AH, Yamaji T, Zheng Y, Dunning AM, Pharoah PDP, Teo SHKang D, Easton DF, Simard J, Shu X, Long J, Zheng W.
    • Am J Hum Genet. 2022 Nov 9:S0002-9297(22)00459-1. doi: 10.1016/j.ajhg.2022.10.011. Epub ahead of print.

    Related:

    •• Research news: Largest Genetic Risk Study in Breast Cancer Reveals Differences Between Asian and European Populations. (Inside Precision Medicine)

    • Study Suggests a PARP Inhibitors Has Wider Cancer Applications.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 9.

    Related:

    •• Original research:

    A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes.

    • LitAlert ~~ GeneLit.com

    • Reproductive risk factors associated with breast cancer in young women by molecular subtype.
    • Ruddy KJ, Vierkant RA, Jahan N, Higgins A, Partridge A, Larson N, Radisky DC, Couch F, Olson J, Sherman ME.
    • Breast. 2022 Nov 9:S0960-9776(22)00187-4. doi: 10.1016/j.breast.2022.11.004. Epub ahead of print.

    • NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.
    • Belhadj S, Khurram A, Bandlamudi C, Palou-Márquez G, Ravichandran V, Steinsnyder Z, Wildman T, Catchings A, Kemel Y, Mukherjee S, Fesko B, Arora K, Mehine M, Dandiker S, Izhar A, Petrini J, Domchek S, Nathanson KL, Brower J, Couch F, Stadler Z, Robson M, Walsh M, Vijai J, Berger M, Supek F, Karam R, Topka S, Offit K.
    • Clin Cancer Res. 2022 Nov 8:CCR-22-1703. doi: 10.1158/1078-0432.CCR-22-1703. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021.
    • Roht L, Tooming M, Rekker K, Roomere H, Toome K, Murumets Ü, Šamarina U, Õunap K, Kahre T.
    • Front Genet. 2022 Nov 8;12:1020543. doi: 10.3389/fgene.2022.1020543.

    • Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
    • Van Der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ.
    • Front Oncol. 2022 Nov 8;12:938561. doi: 10.3389/fonc.2022.938561.

    • Germline Pathogenic Variants Associated with Ovarian Cancer: A Historical Overview.
    • Lund Johansen E, Fribert Thusgaard C, Thomassen M, Eriksen Boonen S, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8;101105. doi: 10.1016/j.gore.2022.101105.

    • Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
    • Mori T, Okamoto Y, Mu A, Ide Y, Yoshimura A, Senda N, Inagaki-Kawata Y, Kawashima M, Kitao H, Tokunaga E, Miyoshi Y, Ohsumi S, Tsugawa K, Ohta T, Katagiri T, Ohtsuru S, Koike K, Ogawa S, Toi M, Iwata H, Nakamura S, Matsuo K, Takata M.
    • Cancer Med. 2022 Nov 7. doi: 10.1002/cam4.5430. Epub ahead of print.

    • A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.
    • Naiki T, Naiki-Ito A, Kawai T, Komatsu H, Nishikawa R, Gonda M, Aoki M, Sugiyama Y, Tasaki Y, Yasui T.
    • IJU Case Rep. 2022 Jun 29 [eCollection 2022 Nov];5(6):431-435. doi: 10.1002/iju5.12501.

    Related:

    •• Commentary:

    Editorial Comment from Dr Sekino and Dr Hinata to A case of metastatic treatment emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.

    •• Commentary:

    Editorial Comment from Dr Kato to A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation by liver biopsy.

    • Prostate cancer recurring as small-cell carcinoma with a BRCA2 somatic mutation.
    • Yabusaki R, Yoshimura K, Taku K, Suzuki M.
    • IJU Case Rep. 2022 Aug 12 [eCollection 2022 Nov];5(6):489-492. doi: 10.1002/iju5.12523.

    • LitAlert ~~ GeneLit.com

    • Overview of familial syndromes with increased skin malignancies.
    • Juan HY, Zhou AE, Hoegler KM, Khachemoune A.
    • Arch Dermatol Res. 2022 Nov 7. doi: 10.1007/s00403-022-02447-8. Epub ahead of print.
    • Review

    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.

    • Germline mutations in 5' to c.7914 of BRCA2 significantly increase risk of prostate cancer.
    • Ruan XH, Huang D, Lin XL, Fang ZJ, Ding Q, Wu YS, Na R.
    • Asian J Androl. 2022 Oct 28. doi: 10.4103/aja202277. Epub ahead of print.

    • Safety and efficacy of avelumab plus carboplatin in patients with metastatic castration-resistant prostate cancer in an open-label Phase Ib study.
    • Rodriguez-Vida A, Maroto P, Font A, Martin C, Mellado B, Corbera A, Orrillo M, Reig O, Querol R, Rios-Hoyo A, Cano L, Alonso J, Martinez G, Galtes S, Taus A, Martinez-Garcia M, Juanpere N, Juan O, Bellmunt J.
    • Br J Cancer. 2022 Oct 26. doi: 10.1038/s41416-022-01991-4. Epub ahead of print.

    • Common germline risk variants impact somatic alterations and clinical features across cancers.
    • Namba S, Saito Y, Kogure Y, Masuda T, Bondy ML, Gharahkhani P, Gockel I, Heider D, Hillmer A, Jankowski J, MacGregor S, Maj C, Melin B, Ostrom QT, Palles C, Schumacher J, Tomlinson I, Whiteman DC, Okada Y, Kataoka K.
    • Cancer Res. 2022 Oct 26:CAN-22-1492. doi: 10.1158/0008-5472.CAN-22-1492. Epub ahead of print.

    • Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
    • Felbor U, Bülow R, Schmutzler RK, Rath M.
    • Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.

    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.

    • LitAlert ~~ GeneLit.com

    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.

    • Germline mutations in 5' to c.7914 of BRCA2 significantly increase risk of prostate cancer.
    • Ruan XH, Huang D, Lin XL, Fang ZJ, Ding Q, Wu YS, Na R.
    • Asian J Androl. 2022 Oct 28. doi: 10.4103/aja202277. Epub ahead of print.

    • Safety and efficacy of avelumab plus carboplatin in patients with metastatic castration-resistant prostate cancer in an open-label Phase Ib study.
    • Rodriguez-Vida A, Maroto P, Font A, Martin C, Mellado B, Corbera A, Orrillo M, Reig O, Querol R, Rios-Hoyo A, Cano L, Alonso J, Martinez G, Galtes S, Taus A, Martinez-Garcia M, Juanpere N, Juan O, Bellmunt J.
    • Br J Cancer. 2022 Oct 26. doi: 10.1038/s41416-022-01991-4. Epub ahead of print.

    • Common germline risk variants impact somatic alterations and clinical features across cancers.
    • Namba S, Saito Y, Kogure Y, Masuda T, Bondy ML, Gharahkhani P, Gockel I, Heider D, Hillmer A, Jankowski J, MacGregor S, Maj C, Melin B, Ostrom QT, Palles C, Schumacher J, Tomlinson I, Whiteman DC, Okada Y, Kataoka K.
    • Cancer Res. 2022 Oct 26:CAN-22-1492. doi: 10.1158/0008-5472.CAN-22-1492. Epub ahead of print.

    • Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
    • Felbor U, Bülow R, Schmutzler RK, Rath M.
    • Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.

    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.