Phenotype of BRCA1/2-Associated Gastric Cancer
~ Genetics of Breast & Ovarian Cancer

List was last updated on Jul 13, 2021 @ 4:00 pm.


    • Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
    • Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
    • JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.

    Related:

    Commentary:

    Expanding Germline Testing to All Patients With Esophagogastric Cancers-Easy to Do, Harder to Justify.

    Press: Gastric Cancer Cases Frequently Harbor Genetic Risk Variants, Suggesting Germline Testing. (GenomeWeb)

    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2021 May 7. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, Mckinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Mar 22;10:663419. doi: 10.3389/fonc.2021.663419.
    • Recent advances in the pathology of heritable gastric cancer syndromes.
    • Gullo I, van der Post RS, Carneiro F.
    • Histopathology. 2021 Jan;78(1):125-147. doi: 10.1111/his.14228.
    • Review
    • Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review.
    • Halpern N, Grinshpun A, Boursi B, Golan T, Margalit O, Aderka D, Friedman E, Laitman Y, Hubert A, Kadouri L, Hamburger T, Barnes-Kedar I, Levi Z, Ben-Aharon I, Brenner B, Goldberg Y, Peretz T, Shacham-Shmueli E.
    • Onco Targets Ther. 2020 Nov 13;13:11637-11644. doi: 10.2147/OTT.S276814.
    • BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives.
    • Molinaro E, Andrikou K, Casadei-Gardini A, Rovesti G.
    • Cancers (Basel). 2020 Nov 12;12(11):E3346. doi: 10.3390/cancers12113346.
    • Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
    • Sun P, Li Y, Chao X, Li J, Luo R, Li M, He J.
    • BMC Cancer. 2020 Oct 14;20(1):994. doi: 10.1186/s12885-020-07481-1.
    • First report of a Mexican family with mutation in the CDH1 gene.
    • Martínez Valenzuela C, Castelán-Maldonado EE, Carvajal-Zarrabal O, Calderón-Garcidueñas AL.
    • Mol Genet Genomic Med. 2020 Sep 4:e1208. doi: 10.1002/mgg3.1208. Epub ahead of print.
    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
    • Llach J, Moreno L, Sánchez A, Herrera-Pariente C, Ocaña T, Cuatrecasas M, Rivero-Sánchez L, Moreira R, Díaz M, Jung G, Pellisé M, Castells A, Balaguer F, Carballal S, Moreira L.
    • Cancers (Basel). 2020 Aug 23;12(9):E2386. doi: 10.3390/cancers12092386.
    • Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report.
    • Silva PGB, de Sant'ana RO, Picanço-Albuquerque CG, Silva-Fernandes IJL, Bezerra MJB, Luciano MCDS, Lima MVA.
    • Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Aug 21:S2212-4403(20)31166-4. doi: 10.1016/j.oooo.2020.08.017. Epub ahead of print.
    • Case report
    • BReast CAncer (BRCA) gene mutations as an emerging biomarker for the treatment of gastrointestinal malignancies.
    • Premnath N, O'Reilly EM.
    • Chin Clin Oncol. 2020 Aug 10:cco-2019-ddp-05. doi: 10.21037/cco-2019-ddp-05. Epub ahead of print.
    • Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.
    • Ji K, Ao S, He L, Zhang L, Feng L, Lyu G.
    • Chin J Cancer Res. 2020 Aug;32(4):508-515. doi: 10.21147/j.issn.1000-9604.2020.04.08.
    • Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
    • Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D.
    • J Med Genet. 2020 Jun 23:jmedgenet-2020-106972. doi: 10.1136/jmedgenet-2020-106972. Epub ahead of print.
    • Case report
    • The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
    • Watters AK, Seltzer ES, MacKenzie D Jr, Young M, Muratori J, Hussein R, Sodoma AM, To J, Singh M, Zhang D.
    • Genes (Basel). 2020 Jul 21;11(7):E829. doi: 10.3390/genes11070829.
    • Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
    • Dullens B, de Putter R, Lambertini M, Toss A, Han S, Van Nieuwenhuysen E, Van Gorp T, Vanderstichele A, Van Ongeval C, Keupers M, Prevos R, Celis V, Dekervel J, Everaerts W, Wildiers H, Nevelsteen I, Neven P, Timmerman D, Smeets A, Denayer E, Van Buggenhout G, Legius E, Punie K.
    • J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Pathogenic Germline Mutations in Chinese Patients with Gastric Cancer Identified by Next-Generation Sequencing.
    • Zhou J, Zhao Z, Zhang Y, Bao C, Cui L, Cai S, Bai Y, Shen L, Zhang X.
    • Oncology. 2020 Jun 10:1-6. doi: 10.1159/000505664. Epub ahead of print.
    • Pan-Cancer Analysis of BRCA1 and BRCA2 Genomic Alterations and Their Association With Genomic Instability as Measured by Genome-Wide Loss of Heterozygosity.
    • Sokol ES, Pavlick D, Khiabanian H, Frampton GM, Ross JS, Gregg JP, Lara PN, Oesterreich S, Agarwal N, Necchi A, Miller VA, Alexander B, Ali SM, Ganesan S, Chung JH.
    • JCO Precis Oncol. 2020;4:442. doi: 10.1200/PO.19.00345. Epub 2020 Apr 30.
    • Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
    • Aronson M, Swallow C, Govindarajan A, Semotiuk K, Cohen Z, Kaurah P, Velsher L, Ambus I, Buckley K, Forster-Gibson C, Meschino WS, Blumenthal A, Kim RH, Brar S.
    • Curr Oncol. 2020 Apr;27(2):e182-e190. doi: 10.3747/co.27.5663. Epub 2020 May 1.
    • Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.
    • Wen L, Li X, Shi J, Zhang S, Wang R, Yao M, Guo J.
    • J Int Med Res. 2019 Nov 27:300060519886226. doi: 10.1177/0300060519886226. [Epub ahead of print]
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors.
    • Ju Y, Wang L, Ta S, Shu R, Yang S, Gao X, Song H, Liu L.
    • Oncol Lett. 2019 Sep;18(3):2885-2890. doi: 10.3892/ol.2019.10646. Epub 2019 Jul 22.
    • Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers.
    • Roberts ME, Ranola JMO, Marshall ML, Susswein LR, Graceffo S, Bohnert K, Tsai G, Klein RT, Hruska KS, Shirts BH.
    • JAMA Oncol. 2019 Jun 27. doi: 10.1001/jamaoncol.2019.1208. [Epub ahead of print]
    • Analysis of DNA Damage Response Gene Alterations and Tumor Mutational Burden Across 17,486 Tubular Gastrointestinal Carcinomas: Implications for Therapy.
    • Parikh AR, He Y, Hong TS, Corcoran RB, Clark JW, Ryan DP, Zou L, Ting DT, Catenacci DV, Chao J, Fakih M, Klempner SJ, Ross JS, Frampton GM, Miller VA, Ali SM, Schrock AB.
    • Oncologist. 2019 Apr 30. pii: theoncologist.2019-0034. doi: 10.1634/theoncologist.2019-0034. [Epub ahead of print]
    • A case of gastric cancer metastasis to the breast in a female with BRCA2 germline mutation and literature review.
    • Dulskas A, Al Bandar M, Choi YY, Shin SJ, Beom SH, Son T, Kim HI, Cheong JH, Hyung WJ, Noh SH.
    • Acta Chir Belg. 2019 Feb;119(1):59-63. doi: 10.1080/00015458.2017.1411554. Epub 2017 Dec 5.
    • Case report
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.
    • Ichikawa H, Wakai T, Nagahashi M, Shimada Y, Hanyu T, Kano Y, Muneoka Y, Ishikawa T, Takizawa K, Tajima Y, Sakata J, Kobayashi T, Kemeyama H, Yabusaki H, Nakagawa S, Sato N, Kawasaki T, Homma K, Okuda S, Lyle S, Takabe K.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00097. Epub 2018 Jul 5.
    • Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
    • Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.
    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Related:

    Commentary:

    PALB2 as a familial gastric cancer gene: is the wait over?

    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
    • Ecancermedicalscience. 2018 Jan 30;12:804. doi: 10.3332/ecancer.2018.804. eCollection 2018.
    • Emerging Concepts in Gastric Neoplasia: Heritable Gastric Cancers and Polyposis Disorders.
    • van der Post RS, Carneiro F.
    • Surg Pathol Clin. 2017 Dec;10(4):931-945. doi: 10.1016/j.path.2017.07.011.
    • Review
    • Co-targeting c-Met and DNA double-strand breaks (DSBs): Therapeutic strategies in BRCA-mutated gastric carcinomas.
    • Mihailidou C, Karamouzis MV, Schizas D, Papavassiliou AG.
    • Biochimie. 2017 Nov;142:135-143. doi: 10.1016/j.biochi.2017.09.001. Epub 2017 Sep 7.
    • Review
    • Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.
    • Slavin T, Neuhausen SL, Rybak C, Solomon I, Nehoray B, Blazer K, Niell-Swiller M, Adamson AW, Yuan YC, Yang K, Sand S, Castillo D, Herzog J, Wu X, Tao S, Chavez T, Woo Y, Chao J, Mora P, Horcasitas D, Weitzel J.
    • Cancer Genet. 2017 Oct;216-217:111-119. doi: 10.1016/j.cancergen.2017.08.001. Epub 2017 Aug 17.
    • Secondary gastric cancer malignancies following a breast cancer diagnosis: A population-based analysis.
    • Mahar AL, Kagedan DJ, Hallet J, Coburn NG.
    • Breast. 2017 Jun;33:34-37. doi: 10.1016/j.breast.2017.02.012. Epub 2017 Mar 6.
    • [Hereditary gastric and pancreatic cancer].
    • Langner C.
    • Pathologe. 2017 May;38(3):164-169. doi: 10.1007/s00292-017-0297-6.
    • Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients with Gastric Cancer.
    • Sahasrabudhe R, Lott P, Bohorquez M, Toal T, Estrada AP, Suarez JJ, Brea-Fernández A, Cameselle-Teijeiro J, Pinto C, Ramos I, Mantilla A, Prieto R, Corvalan A, Norero E, Alvarez C, Tapia T, Carvallo P, Gonzalez LM, Cock-Rada A, Solano A, Neffa F, Della Valle A, Yau C, Soares G, Borowsky A, Hu N, He LJ, Han XY; Latin American Gastric Cancer Genetics Collaborative Group, Taylor PR, Goldstein AM, Torres J, Echeverry M, Ruiz-Ponte C, Teixeira MR, Carvajal Carmona LG.
    • Gastroenterology. 2017 Apr;152(5):983-986.e6. doi: 10.1053/j.gastro.2016.12.010. Epub 2016 Dec 23.
    • A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
    • Huszno J, Budryk M, Kołosza Z, Tęcza K, Pamuła Piłat J, Nowara E, Grzybowska E.
    • Oncology. [2016 Apr;]90(4):193-8. doi: 10.1159/000444326. Epub 2016 Mar 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers.
    • Cavanagh H, Rogers KM.
    • Hered Cancer Clin Pract. 2015 Aug 1;13(1):16. doi: 10.1186/s13053-015-0038-x. eCollection 2015.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 familial mutation and gastric cancer

    • Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.
    • Ławniczak M, Jakubowska A, Białek A, Karpińska-Kaczmarczyk K, Lubiński J, Starzyńska T.
    • Pol Arch Med Wewn. 2015 Feb 27;125(1-2):39-45. Epub 2015 Dec 23.
    • BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
    • Gutiérrez Espeleta G, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod S.
    • Clin Genet. 2012 Nov;82(5):484-8. doi: 10.1111/j.1399-0004.2011.01774.x. Epub 2011 Oct 5.
    • Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary.
    • Noh JM, Choi DH, Baek H, Nam SJ, Lee JE, Kim JW, Ki CS, Park W, Huh SJ.
    • J Breast Cancer. 2012 Sep;15(3):283-7. doi: 10.4048/jbc.2012.15.3.283. Epub 2012 Sep 28.
    • Increased risks of third primary cancers of non-breast origin among women with bilateral breast cancer.
    • Kwast AB, Liu L, Roukema JA, Voogd AC, Jobsen JJ, Coebergh JW, Soerjomataram I, Siesling S.
    • Br J Cancer. 2012 Jul 24;107(3):549-55. doi: 10.1038/bjc.2012.270. Epub 2012 Jun 19.
    • Genetic testing by cancer site: stomach.
    • Chun N, Ford JM.
    • Cancer J. 2012 Jul-Aug;18(4):355-63. doi: 10.1097/PPO.0b013e31826246dc.
    • Review
    • Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations.
    • Moran A, O'Hara C, Khan S, Shack L, Woodward E, Maher ER, Lalloo F, Evans DG.
    • Fam Cancer. 2012 Jun;11(2):235-42. doi: 10.1007/s10689-011-9506-2.
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.