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    • Letter. Commentary

    Related:

    •• Reply:

    Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
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    • RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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    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.

    • BRCA1/2 Reversion Mutations in Patients Treated with Poly ADP-Ribose Polymerase (PARP) Inhibitors or Platinum Agents.
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    • EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.
    • The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
    • Wagener R, Walter C, Auer F, Alzoubi D, Hauer J, Fischer U, Varghese J, Dugas M, Borkhardt A, Brozou T.
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    Related:

    •• Letter, Commentary:

    Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].

    •• Reply:

    Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

    • Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
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    •• Original research:

    A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.

    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
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    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
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    • 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.
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    • Olaparib as an Experimental Therapy in a BRCA2-mutated Patient with Metastatic Ovarian Adenocarcinoma Originated from Liver Cancer.
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    • Potential value of the homologous recombination deficiency signature we developed in the prognosis and drug sensitivity of gastric cancer.
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    • Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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    • J Natl Cancer Inst. 2022 Nov 14;114(11):1523-1532. doi: 10.1093/jnci/djac151.

    Related:

    •• Letter, Commentary:

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

    •• Letter, Reply:

    Reply to Evans and Woodward.

    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
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    • 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.
    • 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.
    • 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.
    • Overview of familial syndromes with increased skin malignancies.
    • Juan HY, Zhou AE, Hoegler KM, Khachemoune A.
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    • Review
    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
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    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.
    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
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    • Cancer Genet. 2022 Nov 1;268-269:128-136. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report
    • Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
    • Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
    • Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
    • Multigene panel testing might explain the increased risk of secondary malignancies after radiotherapy in Japanese breast cancer patients.
    • Altundag K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):439. doi: 10.1007/s10549-022-06742-w. Epub 2022 Sep 10.

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    Original research:

    Risk of secondary malignancy after radiotherapy for breast cancer: long-term follow-up of Japanese patients with breast cancer.

    • 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.

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    • 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.
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    • Sanchis-Borja M, Fallet V, Fabre E, Wislez M, Culine S, Zalcman G, Spano JP, Buffet NC, Coulet F, Benusiglio PR, Cadranel J.
    • Lung Cancer. 2022 Nov;173:67-70. doi: 10.1016/j.lungcan.2022.09.002. Epub 2022 Sep 6.
    • Recurrent Cervical Cancer Treated Successfully with Single-Agent PARP-Inhibitor, Olaparib.
    • Gross M, Spencer RJ.
    • Case Rep Obstet Gynecol. 2022 Oct 25;2022:6579715. doi: 10.1155/2022/6579715.
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    • Cancers (Basel). 2022 Oct 19;14(20):5117. doi: 10.3390/cancers14205117.
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    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
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    • Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H.
    • J Hepatol. 2022 Oct 12:S0168-8278(22)03137-3. doi: 10.1016/j.jhep.2022.09.025. Epub ahead of print.
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    • Wang C, Dai J, Qin N, Fan J, Ma H, Chen C, An M, Zhang J, Yan C, Gu Y, Xie Y, He Y, Jiang Y, Zhu M, Song C, Jiang T, Liu J, Zhou J, Wang N, Hua T, Liang S, Wang L, Xu J, Yin R, Chen L, Xu L, Jin G, Lin D, Hu Z, Shen H.
    • Cancer Cell. 2022 Oct 10;40(10):1223-1239.e6. doi: 10.1016/j.ccell.2022.08.013. Epub 2022 Sep 15.

    Related:

    Commentary:

    Whole-genome sequencing of East Asian lung cancers reveals new germline pathogenic variants.

    • Rare germline deleterious variants increase susceptibility for lung cancer.
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    Related:

    •• Letter, Commentary:

    CHEK2 Pathogenic Germline Variants in Patients With NSCLC.

    • HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report.
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    • Oncol Lett. 2022 Jul 27 [eCollection 2022 Sep];24(3):325. doi: 10.3892/ol.2022.13445.
    • Role of genetic testing in hepatic, pancreatic, and biliary cancers.
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    • Surg Oncol. 2022 Sep;44:101844. doi: 10.1016/j.suronc.2022.101844. Epub 2022 Sep 5.
    • Review
    • Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
    • Wang X, Kaneko K, Arakawa H, Habano E, Omi M, Nakashima E, Kawachi H, Tonooka A, Omatsu K, Nomura H, Yunokawa M, Kanao H, Takahashi S, Nakajima T, Ueki A.
    • Case Rep Oncol. 2022 Aug 31;15(2):792-797. doi: 10.1159/000525941.
    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
    • Mossanen M, Nassar AH, Stokes SM, Martinez-Chanza N, Kumar V, Nuzzo PV, Kwiatkowski DJ, Garber JE, Curran C, Freeman D, Preston M, Mouw KW, Kibel A, Choueiri TK, Sonpavde G, Rana HQ.
    • Clin Genitourin Cancer. 2022 Aug 29:S1558-7673(22)00177-X. doi: 10.1016/j.clgc.2022.08.009. Epub ahead of print.
    • Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
    • Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER.
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    • Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
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    • Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
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    • Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.
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    • Review
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    • Case Report: Fluzoparib for multiple lines of chemotherapy refractory in metastatic cutaneous squamous cell carcinoma with BRCA2 pathogenic mutation.
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    • A Randomized, Double-Blind, Biomarker-Selected, Phase II Clinical Trial of Maintenance Poly ADP-Ribose Polymerase Inhibition With Rucaparib Following Chemotherapy for Metastatic Urothelial Carcinoma.
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    • J Clin Oncol. 2022 Aug 12:JCO2200405. doi: 10.1200/JCO.22.00405. Epub ahead of print.
    • Rapid and durable response to fifth-line lorlatinib plus olaparib in an ALK-rearranged, BRCA2-mutated metastatic lung adenocarcinoma patient with critical tracheal stenosis: a case report.
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    Related:

    Letter, Reply:

    Reply to V. Fallet et al.

    Original research:

    Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.

    • Incidence of other cancer diagnoses in women with breast cancer: a retrospective cohort study with 42,248 women.
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    • Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
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    • Review
    • Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
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    • Gynecol Oncol. 2022 Aug;166(2):344-350. doi: 10.1016/j.ygyno.2022.05.023. Epub 2022 Jun 9.
    • Cutaneous apocrine adenocarcinoma in a PALB2 germline pathogenic variant carrier.
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    • J Eur Acad Dermatol Venereol. 2022 Aug;36(8):e636-e638. doi: 10.1111/jdv.18094. Epub 2022 Mar 28.
    • Case report
    • Follicular Thyroid Cancer With Ocular Metastasis in a Patient With a Pathogenic Germline Variant in the Checkpoint Kinase 2 (CHEK2) Gene.
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    • Mayo Clin Proc. 2022 Aug;97(8):1422-1423. doi: 10.1016/j.mayocp.2022.05.008.
    • Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
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    • Nat Genet. 2022 Aug;54(8):1155-1166. doi: 10.1038/s41588-022-01121-z. Epub 2022 Jul 14.

    Related:

    Research news:

    Novel Germline Loci Are Associated with Clonal Hematopoiesis Risk.

    Research news: New Clonal Hematopoiesis Genetic Risk Loci Identified in UK Biobank Study. (Precision Oncology News)

    • High grade acinic cell carcinoma of the breast with clear cytoplasm mimics clear cell carcinoma in a BRCA1 mutation carrier: a case report and review of the literature on the molecular analysis.
    • Min L, Qiao H, Hongkai Z.
    • Histol Histopathol. 2022 Jul 27:18501. doi: 10.14670/HH-18-501. Epub ahead of print.
    • Case Report: Sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate.
    • Zhou T, Mahn R, Möhring C, Sadeghlar F, Meyer C, Toma M, Kreppel B, Essler M, Glowka T, Matthaei H, Kalff JC, Strassburg CP, Gonzalez-Carmona MA.
    • Front Oncol. 2022 Jul 25;12:933943. doi: 10.3389/fonc.2022.933943.
    • Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
    • Jürgens H, Roht L, Leitsalu L, Nõukas M, Palover M, Nikopensius T, Reigo A, Kals M, Kallak K, Kütner R, Budrikas K, Kuusk S, Valvere V, Laidre P, Toome K, Rekker K, Tooming M, Ülle Murumets, Kahre T, Kruuv-Käo K, Õunap K, Padrik P, Metspalu A, Esko T, Fischer K, Tõnisson N.
    • Front Genet. 2022 Jul 22;13:881100. doi: 10.3389/fgene.2022.881100.
    • Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.
    • Sorscher S.
    • Clin Lung Cancer. 2022 Jul 21 [2022 Jul 20]:S1525-7304(22)00163-2. doi: 10.1016/j.cllc.2022.07.011. Epub ahead of print.
    • Peutz-Jeghers Syndrome.
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    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 19.
    • Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
    • Wu T, Wan J, Xia K, Yang M, Feng L, Yin L, Chen C.
    • Front Oncol. 2022 Jul 15;12:910264. doi: 10.3389/fonc.2022.910264.
    • Clinical use of PARP inhibitor in recurrent uterine leiomyosarcoma with presence of a somatic BRCA2 mutation.
    • Shammas N, Yang T, Abidi A, Amneus M, Hodeib M.
    • Gynecol Oncol Rep. 2022 Jul 14;42:101044. doi: 10.1016/j.gore.2022.101044.
    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Related:

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • Triple therapy in biliary tract cancers: GemOX plus immune checkpoint inhibitor in combination with lenvatinib or NGS-guided targeted therapy.
    • Dong X, Zhang Z, Zhang Q, Chen L, Cao G, Liu C, Song T, Lu W, Zhang W.
    • Cancer Res Clin Oncol. 2022 Jul 8. doi: 10.1007/s00432-022-04166-z. Epub ahead of print.
    • Do Not Forget Poly (Adenosine Diphosphate-Ribose) Polymerase Inhibitors in Ovarian Carcinosarcoma.
    • Magalhães D, Bartosch C, Abreu MH.
    • Cureus. 2022 Jul 8;14(7):e26662. doi: 10.7759/cureus.26662.
    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jul 4;32(7):891-898. doi: 10.1136/ijgc-2021-003082.
    • Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
    • Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gümüs ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.
    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 Jul;10(7):e1940. doi: 10.1002/mgg3.1940. Epub 2022 May 24.
    • Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).
    • Rosenberg JE, Park SH, Kozlov V, Dao TV, Castellano D, Li JR, Mukherjee SD, Howells K, Dry H, Lanasa MC, Stewart R, Bajorin DF.
    • J Clin Oncol. 2022 Jun 23:JCO2200205. doi: 10.1200/JCO.22.00205. Epub ahead of print.
    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
    • Arslan Ates E, Turkyilmaz A, Alavanda C, Yildirim O, Guney AI.
    • Medeni Med J. 2022 Jun 23;37(2):150-158. doi: 10.4274/MMJ.galenos.2022.22556.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
    • Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ.
    • J Clin Oncol. 2022 Jun 10;40(17):1892-1902. doi: 10.1200/JCO.21.02510. Epub 2022 Mar 1.

    Related:

    Research news: Inherited Cancer Risk Detected in Significant Subset of Wilms Tumor Cases. (GenomeWeb)

    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
    • Ge S, Wang B, Wang Z, He J, Ma X.
    • Front Oncol. 2022 Jun 8;12:840431. doi: 10.3389/fonc.2022.840431.
    • Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused On Genotype-Phenotype Correlation.
    • Park JS, Park JW, Shin S, Lee ST, Shin SJ, Min BS, Park SJ, Park JJ, Cheon JH, Kim WH, Kim TI.
    • Dis Colon Rectum. 2022 Jun 1;65(6):793-803. doi: 10.1097/DCR.0000000000002039. Epub 2022 May 3.
    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Related:

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

    • A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
    • Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
    • Curr Med Sci. 2022 Jun;42(3):666-672. doi: 10.1007/s11596-022-2527-2. Epub 2022 Mar 15.
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    Related:

    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.
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    • J Clin Oncol. 2022 May 10;40(14):1529-1541. doi: 10.1200/JCO.21.02112. Epub 2022 Jan 25.

    Related:

    Press: BRCA Mutations More Strongly Tied to Prostate and Pancreatic Cancer. (Inside Precision Medicine)

    Commentary:

    Germline Pathogenic Variants in BRCA1 and BRCA2: Malignancies Beyond Female Breast and Ovarian Cancers.

    Comment, Letter:

    Do Female BRCA2 Pathogenic Variant Carriers Have an Increased Risk of Lung Cancer?

    Reply, Letter:

    Reply to V. Fallet et al.

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    Related:

    Commentary:

    Oral Contraceptives and BRCA Cancer: A Balancing Act.

    • Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.
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    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
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    • Commentary

    Related:

    Original research:

    Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.

    • Targeting the DNA Damage Response Pathway as a Novel Therapeutic Strategy in Colorectal Cancer.
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    • Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
    • Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I.
    • Eur J Cancer. 2022 Jan 12 [2022 Mar 1];163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub ahead of print.
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    • Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
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    • Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13.
    • Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
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    Related:

    Commentary:

    The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes.

    • Molecular analysis of endometrial serous carcinoma reveals distinct clinicopathologic and genomic subgroups.
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    • Incidence and Prevalence of Intraductal Papillary Mucinous Neoplasms in Individuals With BRCA1 and BRCA2 Pathogenic Variant.
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    • Case report
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    • BRCA Mutations More Strongly Tied to Prostate and Pancreatic Cancer.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Jan 27.

    Related:

    Original research:

    Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.

    • Genomic Correlates of Unfavorable Outcome in Locally Advanced Cervical Cancer Treated with Neoadjuvant Chemoradiation.
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    • Complete Response of a Mutated BRCA2 Metastatic Clear Cell Endometrial Adenocarcinoma to the Poly (ADP ribose) Polymerase (PARP) Inhibitor Olaparib.
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    • Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Nov 30.

    Related:

    Original research:

    Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    • Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks.
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    • Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.
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    Related:

    Commentary:

    BRCA1/2 and Endometrial Cancer Risk: Implications for Management.

    Letter, Commentary:

    RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    Letter, Reply:

    Response to Nahshon and Lavie.

    Research news: Study: Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer. (FORCE. XRAY.)

    • Homologous Recombination Deficiency Alterations in Colorectal Cancer: Clinical, Molecular, and Prognostic Implications.
    • Moretto R, Elliott A, Zhang J, Arai H, Germani MM, Conca V, Xiu J, Stafford P, Oberley M, Abraham J, Spetzler D, Rossini D, Antoniotti C, Marshall J, Shields A, Lopes G, Lonardi S, Pietrantonio F, Tomasello G, Passardi A, Tamburini E, Santini D, Aprile G, Masi G, Falcone A, Lenz HJ, Korn M, Cremolini C.
    • J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.

    Related:

    Research news:

    Are Homologous Recombination Deficiency Mutations Relevant in Colorectal Cancer?

    • Novel Case of Isolated Peritoneal Carcinomatosis from Metastatic Prostate Cancer Carrying a Pathogenic BRCA Mutation Treated with Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy.
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    • BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies.
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    • Hum Mol Genet. 2021 Aug 28;30(18):1750-1761. doi: 10.1093/hmg/ddab138.
    • RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
    • Nahshon C, Lavie O.
    • J Natl Cancer Inst. 2021 Aug 23:djab154. doi: 10.1093/jnci/djab154. Epub ahead of print.

    Related:

    Letter, Reply:

    Response to Nahshon and Lavie.

    Original research:

    Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

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    • Review
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    • 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)

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    Related:

    Editorial:

    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)

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    • Liu M, Liu X, Suo P, Gong Y, Qu B, Peng X, Xiao W, Li Y, Chen Y, Zeng Z, Lu Y, Huang T, Zhao Y, Liu M, Li L, Chen Y, Zhou Y, Liu G, Yao J, Chen S, Song L.
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    Related:

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    Letter, Reply:

    Response to Yang, Shi, Wang, et al.

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    Related:

    Press: Germline BRCA2 Mutations Linked to Pediatric Non-Hodgkin Lymphoma Risk. (GenomeWeb)

    Press: Pediatric Lymphoma Joins Family of BRCA2 Cancers. (Medscape Oncology)

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    Related:

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

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    Related:

    Full text: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis (Medscape Oncology)

    Letter, Comment:

    RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

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    Related:

    Research News:

    Mixing Mutation Location With Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?

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    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
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    • Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
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    • Genomic Characterization of Biliary Tract Cancers Identifies Driver Genes and Predisposing Mutations.
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    • J Hepatol. 2018 May;68(5):959-969. doi: 10.1016/j.jhep.2018.01.009. Epub 2018 Jan 31.
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    • Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
    • Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.
    • PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Association of sporadic and familial Barrett's esophagus with breast cancer.
    • Chan MQ, Blum AE, Chandar AK, Emmons AMLK, Shindo Y, Brock W, Falk GW, Canto MI, Wang JS, Iyer PG, Shaheen NJ, Grady WM, Abrams JA, Thota PN, Guda KK, Chak A.
    • Dis Esophagus. 2018 Apr 1;31(4). doi: 10.1093/dote/doy007.
    • Sebaceous carcinoma of the breast in a patient with a pathogenic BRCA2 (886delGT) mutation - focus on histopathologic and immunohistochemical features.
    • Acosta AM, Al Rasheed MRH, Xu H, Salibay C, Pins MR.
    • APMIS. 2018 Apr;126(4):353-356. doi: 10.1111/apm.12826.
    • Case report
    • Hereditary association between testicular cancer and familial ovarian cancer: A Familial Ovarian Cancer Registry study.
    • Etter JL, Eng K, Cannioto R, Kaur J, Almohanna H, Alqassim E, Szender JB, Joseph JM, Lele S, Odunsi K, Moysich KB.
    • Cancer Epidemiol. 2018 Apr;53:184-186. doi: 10.1016/j.canep.2018.02.005. Epub 2018 Feb 27.
    • Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.
    • Herold N, Wappenschmidt B, Markiefka B, Keupp K, Kröber S, Hahnen E, Schmutzler R, Rhiem K.
    • Oncol Lett. 2018 Apr;15(4):4093-4096. doi: 10.3892/ol.2018.7836. Epub 2018 Jan 22.
    • Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: a case-control study.
    • Smolarz B, Romanowicz H.
    • Int J Clin Exp Pathol. 2018 Mar 1;11(3):1732-1738. eCollection 2018.
    • Breast Cancer is Common in Women With Ovarian Malignant Mixed Mullerian Tumors.
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    • Am J Clin Oncol. 2018 Mar;41(3):286-288. doi: 10.1097/COC.0000000000000266.
    • Peritoneal cancer arising after total abdominal hysterectomy and bilateral salpingo-oophorectomy for cervical cancer in a patient with right breast cancer and germline mutation of BRCA1 gene: a case report and literature review.
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    • Case report, Review
    • Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers.
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    • Germline Genetic Features of Young Individuals With Colorectal Cancer.
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    • Gastroenterology. 2018 Mar;154(4):897-905.e1. doi: 10.1053/j.gastro.2017.11.004. Epub 2017 Nov 14.

    Related:

    Editorial, Comment:

    Genetic Testing and Early Onset Colon Cancer.

    • BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report.
    • Davide B, Francesca M, Valeria P, Irene F, Bernardo B.
    • Oncol Lett. 2018 Mar;15(3):3329-3332. doi: 10.3892/ol.2017.7711. Epub 2017 Dec 28.
    • Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.
    • Saule C, Mouret-Fourme E, Briaux A, Becette V, Rouzier R, Houdayer C, Stoppa-Lyonnet D.
    • J Natl Cancer Inst. 2018 Feb 1;110(2). doi: 10.1093/jnci/djx159.
    • Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition.
    • Ripamonti CB, Manoukian S, Peissel B, Azzollini J, Carcangiu ML, Radice P.
    • Cancer Genet. 2018 Feb;221:38-45. doi: 10.1016/j.cancergen.2017.12.001. Epub 2017 Dec 29.
    • 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.
    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
    • Palmirotta R, Lovero D, Stucci LS, Silvestris E, Quaresmini D, Cardascia A, Silvestris F.
    • Int J Mol Sci. 2018 Jan 18;19(1). pii: E285. doi: 10.3390/ijms19010285.
    • Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
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    • Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.
    • MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.
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    • Retin Cases Brief Rep. 2018 Winter;12(1):1-4. doi: 10.1097/ICB.0000000000000432.
    • Case report
    • Familial associations of male breast cancer with other cancers.
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    • Clinical Presentation and Staging of Melanoma.
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    • Cutaneous Melanoma: Etiology and Therapy [Internet]. Brisbane (AU): Codon Publications; 2017 Dec. Chapter 6.
    • Synchronous Breast Cancer and Gallbladder Diseases-A Chromosomal Analysis: A Pilot Study at a Tertiary Care Centre.
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    • Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
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    • Curr Probl Cancer. 2017 Nov - Dec;41(6):388-397. doi: 10.1016/j.currproblcancer.2017.10.002. Epub 2017 Oct 18.
    • Review
    • Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.
    • Johnatty SE, Tan YY, Buchanan DD, Bowman M, Walters RJ, Obermair A, Quinn MA, Blomfield PB, Brand A, Leung Y, Oehler MK; ANECS Group, Kirk JA, O'Mara TA, Webb PM, Spurdle AB.
    • Gynecol Oncol. 2017 Nov;147(2):381-387. doi: 10.1016/j.ygyno.2017.08.011. Epub 2017 Aug 17.
    • Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
    • Parry EM, Gable DL, Stanley SE, Khalil SE, Antonescu V, Florea L, Armanios M.
    • J Thorac Oncol. 2017 Nov;12(11):1673-1678. doi: 10.1016/j.jtho.2017.08.011. Epub 2017 Aug 24.
    • Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
    • Madubata CJ, Roshan-Ghias A, Chu T, Resnick S, Zhao J, Arnes L, Wang J, Rabadan R.
    • NPJ Genom Med. 2017 Oct 3;2:29. doi: 10.1038/s41525-017-0032-5. eCollection 2017.
    • Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.
    • Betti M, Casalone E, Ferrante D, Aspesi A, Morleo G, Biasi A, Sculco M, Mancuso G, Guarrera S, Righi L, Grosso F, Libener R, Pavesi M, Mariani N, Casadio C, Boldorini R, Mirabelli D, Pasini B, Magnani C, Matullo G, Dianzani I.
    • Cancer Lett. 2017 Oct 1;405:38-45. doi: 10.1016/j.canlet.2017.06.028. Epub 2017 Jul 4.
    • Risk of uterine cancer for BRCA1 and BRCA2 mutation carriers.
    • Lee YC, Milne RL, Lheureux S, Friedlander M, McLachlan SA, Martin KL, Bernardini MQ, Smith C, Picken S, Nesci S, Hopper JL, Phillips KA; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).
    • Eur J Cancer. 2017 Oct;84:114-120. doi: 10.1016/j.ejca.2017.07.004. Epub 2017 Aug 10.
    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
    • Gupta S, Greenberg S, Grimmett J, Gaston D, Agarwal N, Lowrance W, Schiffman J, Kohlmann W.
    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • Quantifying the Genetic Correlation between Multiple Cancer Types.
    • Lindström S, Finucane H, Bulik-Sullivan B, Schumacher FR, Amos CI, Hung RJ, Rand K, Gruber SB, Conti D, Permuth JB, Lin HY, Goode EL, Sellers TA, Amundadottir LT, Stolzenberg-Solomon R, Klein A, Petersen G, Risch H, Wolpin B, Hsu L, Huyghe JR, Chang-Claude J, Chan A, Berndt S, Eeles R, Easton D, Haiman CA, Hunter DJ, Neale B, Price AL, Kraft P; PanScan, GECCO and the GAME-ON Network: CORECT, DRIVE, ELLIPSE, FOCI, and TRICL-ILCCO.
    • Cancer Epidemiol Biomarkers Prev. 2017 Sep;26(9):1427-1435. doi: 10.1158/1055-9965.EPI-17-0211. Epub 2017 Jun 21.
    • Malignant Brenner tumor associated with a germline BRCA2 mutation.
    • Toboni MD, Smith HJ, Dilley SE, Novak L, Leath CA.
    • Gynecol Oncol Rep. 2017 May 31;21:17-19. doi: 10.1016/j.gore.2017.05.006. eCollection 2017 Aug.
    • The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.
    • Witkowski L, Donini N, Byler-Dann R, Knost JA, Albrecht S, Berchuck A, McCluggage WG, Hasselblatt M, Foulkes WD.
    • Fam Cancer. 2017 Jul;16(3):395-399. doi: 10.1007/s10689-016-9957-6.
    • Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study.
    • Golan T, Raitses-Gurevich M, Kelley RK, Bocobo AG, Borgida A, Shroff RT, Holter S, Gallinger S, Ahn DH, Aderka D, Apurva J, Bekaii-Saab T, Friedman E, Javle M.
    • Oncologist. 2017 Jul;22(7):804-810. doi: 10.1634/theoncologist.2016-0415. Epub 2017 May 9.
    • HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
    • Pinheiro M, Drigo SA, Tonhosolo R, Andrade SC, Marchi FA, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Oncotarget. 2017 Jun 20;8(25):40896-40905. doi: 10.18632/oncotarget.16639.
    • Familial melanoma and multiple primary melanoma.
    • DE Simone P, Valiante M, Silipo V.
    • G Ital Dermatol Venereol. 2017 Jun;152(3):262-265. doi: 10.23736/S0392-0488.17.05554-7. Epub 2017 Jan 24.
    • Review
    • Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites.
    • Digennaro M, Sambiasi D, Tommasi S, Pilato B, Diotaiuti S, Kardhashi A, Trojano G, Tufaro A, Paradiso AV.
    • Hered Cancer Clin Pract. 2017 May 25;15:7. doi: 10.1186/s13053-017-0067-8. eCollection 2017.
    • Synchronous occurrence of acute lymphoblastic leukemia and wilms tumor in two patients: underlying etiology and combined treatment plan.
    • Yi JS, Kamihara J, Kesselheim JC, Davies K, van Hoff J, Silverman LB, Mullen EA.
    • Pediatr Blood Cancer. 2017 May;64(5). doi: 10.1002/pbc.26345. Epub 2016 Nov 15.
    • Case report
    • Granular cell tumor in breast: a case report.
    • Castillo Lara M, Martínez Herrera A, Torrejón Cardoso R, Lubián López DM.
    • Breast Cancer (Dove Med Press). 2017 Apr 11;9:245-248. doi: 10.2147/BCTT.S131446. eCollection 2017.
    • Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
    • Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H; Ohio Colorectal Cancer Prevention Initiative Study Group.
    • JAMA Oncol. 2017 Apr 1;3(4):464-471. doi: 10.1001/jamaoncol.2016.5194.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article request

    Subject: Small bowel adenocarcinoma

    Editorial:

    Universal Genetic Testing for Younger Patients With Colorectal Cancer.

    • Whole-genome landscape of pancreatic neuroendocrine tumours.
    • Scarpa A, Chang DK, Nones K, Corbo V, Patch AM, Bailey P, Lawlor RT, Johns AL, Miller DK, Mafficini A, Rusev B, Scardoni M, Antonello D, Barbi S, Sikora KO, Cingarlini S, Vicentini C, McKay S, Quinn MC, Bruxner TJ, Christ AN, Harliwong I, Idrisoglu S, McLean S, Nourse C, Nourbakhsh E, Wilson PJ, Anderson MJ, Fink JL, Newell F, Waddell N, Holmes O, Kazakoff SH, Leonard C, Wood S, Xu Q, Nagaraj SH, Amato E, Dalai I, Bersani S, Cataldo I, Dei Tos AP, Capelli P, Davì MV, Landoni L, Malpaga A, Miotto M, Whitehall VL, Leggett BA, Harris JL, Harris J, Jones MD, Humphris J, Chantrill LA, Chin V, Nagrial AM, Pajic M, Scarlett CJ, Pinho A, Rooman I, Toon C, Wu J, Pinese M, Cowley M, Barbour A, Mawson A, Humphrey ES, Colvin EK, Chou A, Lovell JA, Jamieson NB, Duthie F, Gingras MC, Fisher WE, Dagg RA, Lau LM, Lee M, Pickett HA, Reddel RR, Samra JS, Kench JG, Merrett ND, Epari K, Nguyen NQ, Zeps N, Falconi M, Simbolo M, Butturini G, Van Buren G, Partelli S, Fassan M; Australian Pancreatic Cancer Genome Initiative, Khanna KK, Gill AJ, Wheeler DA, Gibbs RA, Musgrove EA, Bassi C, Tortora G, Pederzoli P, Pearson JV, Waddell N, Biankin AV, Grimmond SM.
    • Nature. 2017 Mar 2;543(7643):65-71. doi: 10.1038/nature21063. Epub 2017 Feb 15.
    • Synchronous Endometrial and Ovarian Cancer in Young Women: Case Report and Review of the Literature.
    • Dogan A, Schultheis B, Rezniczek GA, Hilal Z, Cetin C, Häusler G, Tempfer CB.
    • Anticancer Res. 2017 Mar;37(3):969-978.
    • Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.
    • Sekido Y, Ohigashi S, Takahashi T, Hayashi N, Suzuki K, Hirota S.
    • Anticancer Res. 2017 Mar;37(3):1425-1431.
    • Case report
    • Identification, genetic testing, and management of hereditary melanoma.
    • Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P.
    • Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5.
    • Bilateral Triple-Negative Invasive Breast Cancer with a BRCA2 Mutation, and Glioblastoma: A Case Report and Literature Review.
    • Raufi A, Alsharedi M, Khelfa Y, Tirona M.
    • J Breast Cancer. 2017 Mar;20(1):108-111. doi: 10.4048/jbc.2017.20.1.108. Epub 2017 Mar 24.
    • Carcinosarcoma of the Breast: An Aggressive Subtype of Metaplastic Cancer. Report of a Rare Case in a Young BRCA-1 Mutated Woman.
    • Ghilli M, Mariniello DM, Fanelli G, Cascione F, Fontana A, Cristaudo A, Cilotti A, Caligo AM, Manca G, Colizzi L, Naccarato AG, Roncella M.
    • Clin Breast Cancer. 2017 Feb;17(1):e31-e35. doi: 10.1016/j.clbc.2016.08.002. Epub 2016 Aug 30.
    • Case report
    • Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report.
    • de Jonge MM, Mooyaart AL, Vreeswijk MP, de Kroon CD, van Wezel T, van Asperen CJ, Smit VT, Dekkers OM, Bosse T.
    • Eur J Cancer. 2017 Feb;72:215-225. doi: 10.1016/j.ejca.2016.11.028. Epub 2016 Dec 31.
    • Review
    • Uveal melanoma: relatively rare but deadly cancer.
    • Kaliki S, Shields CL.
    • Eye (Lond). 2017 Feb;31(2):241-257. doi: 10.1038/eye.2016.275. Epub 2016 Dec 2.
    • Review
    • Thyroid cancer with concurrent breast tubular cancer: A case report and literature review.
    • Xu YJ, Qian C, He J, Cheng DQ, Jiang LX.
    • Cancer Biomark. 2017;19(1):113-117. doi: 10.3233/CBM-160505.
    • Case report
    • Multiple primary cancers in BRCA 1/2 carriers - A review of literature and our observations.
    • Markowska A, Lubin J, Markowska J, Kasprzak B, Chajewska-Czekańska M, Madry R, Stawicka M.
    • Eur J Gynaecol Oncol. 2017;38(3):361-363.
    • Review
    • Response of BRCA1-mutated gallbladder cancer to olaparib: A case report.
    • Xie Y, Jiang Y, Yang XB, Wang AQ, Zheng YC, Wan XS, Sang XT, Wang K, Zhang DD, Xu JJ, Li FG, Zhao HT.
    • World J Gastroenterol. 2016 Dec 14;22(46):10254-10259. doi: 10.3748/wjg.v22.i46.10254.
    • Germ line mutations associated with leukemias.
    • Porter CC.
    • Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):302-308.
    • Review
    • Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations.
    • [No author given]
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    • Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.
    • Shu CA, Pike MC, Jotwani AR, Friebel TM, Soslow RA, Levine DA, Nathanson KL, Konner JA, Arnold AG, Bogomolniy F, Dao F, Olvera N, Bancroft EK, Goldfrank DJ, Stadler ZK, Robson ME, Brown CL, Leitao MM Jr, Abu-Rustum NR, Aghajanian CA, Blum JL, Neuhausen SL, Garber JE, Daly MB, Isaacs C, Eeles RA, Ganz PA, Barakat RR, Offit K, Domchek SM, Rebbeck TR, Kauff ND.
    • JAMA Oncol. 2016 Nov 1;2(11):1434-1440. doi: 10.1001/jamaoncol.2016.1820.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG:

    Subject: BRCA1 loss of expression in Uetrine Serous carcinoma

    Subject: Register for August webinar, July webinar slides and recording posted

    Webinar: Cancer SIG Aug Journal Club: Uterine Cancer After RRSO w/o Hysterectomy in Women with BRCA mutations. (NSGC. Cancer SIG Journal Club.)

    Editorial:

    Drawing the Line in Risk-Reducing Gynecologic Surgery in Women With a BRCA Mutation.

    Letter, Comment:

    Reservations About Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.

    Letter, Reply:

    Reservations About Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations-Reply.

    News:

    BRCA mutations and risk of uterine cancer.

    Press: Uterine cancer risk higher for women with ‘breast cancer gene’ mutation (Washington Post)

    Press: BRCA1 Mutation Increases Uterine Cancer Risk (Medscape/Reuters Health)

    • Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
    • Ring KL, Bruegl AS, Allen BA, Elkin EP, Singh N, Hartman AR, Daniels MS, Broaddus RR.
    • Mod Pathol. 2016 Nov;29(11):1381-1389. doi: 10.1038/modpathol.2016.135. Epub 2016 Jul 22.
    • The impact of in situ breast cancer and family history on risk of subsequent breast cancer events and mortality - a population-based study from Sweden.
    • Sackey H, Hui M, Czene K, Verkooijen H, Edgren G, Frisell J, Hartman M.
    • Breast Cancer Res. 2016 Oct 18;18(1):105. doi: 10.1186/s13058-016-0764-7.
    • Association of the germline BRCA2 missense variation Glu2663Lys with high sensitivity to trabectedin-based treatment in soft tissue sarcoma.
    • Miolo G, Viel A, Canzonieri V, Baresic T, Buonadonna A, Santeufemia DA, Lara DP, Corona G.
    • Cancer Biol Ther. 2016 Oct 2;17(10):1017-1021.
    • Case report
    • Unfurling the Genetic Map of Sarcomas.
    • [No authors listed]
    • Cancer Discov. 2016 Oct;6(10):1073-1074. Epub 2016 Aug 23.
    • News
    • The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
    • Esteban-Jurado C, Franch-Expósito S, Muñoz J, Ocaña T, Carballal S, López-Cerón M, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Serra E, Beltran S, Brea-Fernández A, Ruiz-Ponte C, Castells A, Bujanda L, Garre P, Caldés T, Cubiella J, Balaguer F, Castellví-Bel S.
    • Eur J Hum Genet. 2016 Oct;24(10):1501-5. doi: 10.1038/ejhg.2016.44. Epub 2016 May 11.
    • Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.
    • Ge Y, Wang Y, Shao W, Jin J, Du M, Ma G, Chu H, Wang M, Zhang Z.
    • Sci Rep. 2016 Sep 16;6:33542. doi: 10.1038/srep33542.
    • Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.
    • Prodosmo A, Buffone A, Mattioni M, Barnabei A, Persichetti A, De Leo A, Appetecchia M, Nicolussi A, Coppa A, Sciacchitano S, Giordano C, Pinnarò P, Sanguineti G, Strigari L, Alessandrini G, Facciolo F, Cosimelli M, Grazi GL, Corrado G, Vizza E, Giannini G, Soddu S.
    • J Exp Clin Cancer Res. 2016 Sep 6;35(1):135. doi: 10.1186/s13046-016-0410-3.
    • Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
    • Fehringer G, Kraft P, Pharoah PD, Eeles RA, Chatterjee N, Schumacher FR, Schildkraut JM, Lindström S, Brennan P, Bickeböller H, Houlston RS, Landi MT, Caporaso N, Risch A, Amin Al Olama A, Berndt SI, Giovannucci EL, Grönberg H, Kote-Jarai Z, Ma J, Muir K, Stampfer MJ, Stevens VL, Wiklund F, Willett WC, Goode EL, Permuth JB, Risch HA, Reid BM, Bezieau S, Brenner H, Chan AT, Chang-Claude J, Hudson TJ, Kocarnik JK, Newcomb PA, Schoen RE, Slattery ML, White E, Adank MA, Ahsan H, Aittomäki K, Baglietto L, Blomquist C, Canzian F, Czene K, Dos-Santos-Silva I, Eliassen AH, Figueroa JD, Flesch-Janys D, Fletcher O, Garcia-Closas M, Gaudet MM, Johnson N, Hall P, Hazra A, Hein R, Hofman A, Hopper JL, Irwanto A, Johansson M, Kaaks R, Kibriya MG, Lichtner P, Liu J, Lund E, Makalic E, Meindl A, Müller-Myhsok B, Muranen TA, Nevanlinna H, Peeters PH, Peto J, Prentice RL, Rahman N, Sanchez MJ, Schmidt DF, Schmutzler RK, Southey MC, Tamimi R, Travis RC, Turnbull C, Uitterlinden AG, Wang Z, Whittemore AS, Yang XR, Zheng W, Buchanan DD, Casey G, Conti DV, Edlund CK, Gallinger S, Haile RW, Jenkins M, Le Marchand L, Li L, Lindor NM, Schmit SL, Thibodeau SN, Woods MO, Rafnar T, Gudmundsson J, Stacey SN, Stefansson K, Sulem P, Chen YA, Tyrer JP, Christiani DC, Wei Y, Shen H, Hu Z, Shu XO, Shiraishi K, Takahashi A, Bossé Y, Obeidat M, Nickle D, Timens W, Freedman ML, Li Q, Seminara D, Chanock SJ, Gong J, Peters U, Gruber SB, Amos CI, Sellers TA, Easton DF, Hunter DJ, Haiman CA, Henderson BE, Hung RJ; Ovarian Cancer Association Consortium (OCAC); PRACTICAL Consortium; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Colorectal Transdisciplinary (CORECT) Study; African American Breast Cancer Consortium (AABC) and African Ancestry Prostate Cancer Consortium (AAPC).
    • Cancer Res. 2016 Sep 1;76(17):5103-14. doi: 10.1158/0008-5472.CAN-15-2980. Epub 2016 Apr 20.
    • Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
    • Ballinger ML, Goode DL, Ray-Coquard I, James PA, Mitchell G, Niedermayr E, Puri A, Schiffman JD, Dite GS, Cipponi A, Maki RG, Brohl AS, Myklebost O, Stratford EW, Lorenz S, Ahn SM, Ahn JH, Kim JE, Shanley S, Beshay V, Randall RL, Judson I, Seddon B, Campbell IG, Young MA, Sarin R, Blay JY, O'Donoghue SI, Thomas DM; International Sarcoma Kindred Study.
    • Lancet Oncol. 2016 Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.

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    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Concerned family of deceased patient

    Subject: leiomyosarcoma

    • First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.
    • El Ghorayeb N, Grunenwald S, Nolet S, Primeau V, Côté S, Maugard CM, Lacroix A, Gaboury L, Bourdeau I.
    • Medicine (Baltimore). 2016 Sep;95(36):e4756. doi: 10.1097/MD.0000000000004756.
    • Cancer SIG Aug Journal Club: Uterine Cancer After RRSO w/o Hysterectomy in Women with BRCA mutations.
    • Melanie Baxter
    • NSGC. Cancer SIG Journal Club. 2016 Aug 25.

    Related:

    Uterine Cancer After Risk-Reducing Salpingo-oophorectomy Without Hysterectomy in Women With BRCA Mutations.

    • Comment on 'The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study'.
    • Friedenson B.
    • Br J Cancer. 2016 Aug 23;115(5):e2. doi: 10.1038/bjc.2016.192. Epub 2016 Jul 26.

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    Comment, Letter

    The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer.

    Comment, Letter

    Response to 'Comments on 'The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study''.

    • Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.
    • Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Leça L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.
    • PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438.
    • Risk and Protective Factors for Small Intestine Neuroendocrine Tumours: A Prospectivecase-Control Study.
    • Rinzivillo M, Capurso G, Campana D, Fazio N, Panzuto F, Spada F, Cicchese N, Partelli S, Tomassetti P, Falconi M, Delle Fave G.
    • Neuroendocrinology. [2016 Aug;]103(5):531-7. doi: 10.1159/000440884. Epub 2015 Sep 10.
    • The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.
    • Tuominen R, Engström PG, Helgadottir H, Eriksson H, Unneberg P, Kjellqvist S, Yang M, Lindén D, Edsgärd D, Hansson J, Höiom V.
    • Genes Chromosomes Cancer. 2016 Jul;55(7):601-11. doi: 10.1002/gcc.22363. Epub 2016 May 2.
    • Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
    • Streff H, Profato J, Ye Y, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK.
    • Oncologist. 2016 Jul;21(7):869-74. doi: 10.1634/theoncologist.2015-0354. Epub 2016 Jun 15.
    • Primary peritoneal cancer in BRCA carriers after prophylactic bilateral salpingo-oophorectomy.
    • Iavazzo C, Gkegkes ID, Vrachnis N.
    • J Turk Ger Gynecol Assoc. 2016 Jan 12;17(2):73-6. doi: 10.5152/jtgga.2016.15223. eCollection [2016 Jun;].
    • Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.
    • Sanchez A, Schoenfeld JD, Nguyen PL, Fiorentino M, Chowdhury D, Stampfer MJ, Sesso HD, Giovannucci E, Mucci LA, Shui IM.
    • Prostate Cancer Prostatic Dis. 2016 Jun;19(2):197-201. doi: 10.1038/pcan.2016.4. Epub 2016 Mar 1.
    • The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study.
    • Iqbal J, Nussenzweig A, Lubinski J, Byrski T, Eisen A, Bordeleau L, Tung NM, Manoukian S, Phelan CM, Sun P, Narod SA; Hereditary Breast Cancer Research Group.
    • Br J Cancer. 2016 May 10;114(10):1160-4. doi: 10.1038/bjc.2016.58. Epub 2016 Mar 17.
    • Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
    • Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE.
    • JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

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    Editorial

    Precision Therapy for Pediatric Cancers.

    Press: Lessons From Genetic Testing in Pediatric Cancers. (Medscape Oncology)

    • Polymorphism rs144848 in BRCA2 may reduce lung cancer risk in women: a case-control study in southeast China.
    • Lin Y, He F, Zhang X, Yu T, Liu Z, Cai L.
    • Tumori. 2016 Apr 18;102(2):150-5. doi: 10.5301/tj.5000473. Epub 2016 Feb 15.
    • Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?
    • Evans DG, Clancy T, Hill J, Tischkowitz M.
    • Clin Genet. 2016 Mar;89(3):399. doi: 10.1111/cge.12687. Epub 2015 Nov 14.
    • Comment, Letter

    Related:

    Review

    BRCA1 and BRCA2 mutations and the risk for colorectal cancer.

    Response / Letter

    Response to Evans et al.

    • The Breast-Thyroid Cancer Link: A Systematic Review and Meta-analysis.
    • Nielsen SM, White MG, Hong S, Aschebrook-Kilfoy B, Kaplan EL, Angelos P, Kulkarni SA, Olopade OI, Grogan RH.
    • Cancer Epidemiol Biomarkers Prev. 2016 Feb;25(2):231-8. doi: 10.1158/1055-9965.EPI-15-0833.
    • Meta-Analysis, Review
    • Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.
    • Vasanthakumar A, Arnovitz S, Marquez R, Lepore J, Rafidi G, Asom A, Weatherly M, Davis EM, Neistadt B, Duszynski R, Vardiman JW, Le Beau MM, Godley LA, Churpek JE.
    • Blood. 2016 Jan 21;127(3):310-3. doi: 10.1182/blood-2015-03-635599. Epub 2015 Dec 7.
    • Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
    • Churpek JE, Marquez R, Neistadt B, Claussen K, Lee MK, Churpek MM, Huo D, Weiner H, Bannerjee M, Godley LA, Le Beau MM, Pritchard CC, Walsh T, King MC, Olopade OI, Larson RA.
    • Cancer. 2016 Jan 15;122(2):304-311. doi: 10.1002/cncr.29615. Epub 2015 Dec 7.

    Related:

    Editorial / Commentary

    Cancer susceptibility genes and their potential implication regarding systemic therapy for early-stage breast cancer.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: ATM heterozygotes and radiation

    • BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.
    • Ławniczak M, Jakubowska A, Białek A, Lubiński J, Jaworska-Bieniek K, Kaczmarek K, Starzyńska T.
    • Hered Cancer Clin Pract. 2016 Jan 15;14:3. doi: 10.1186/s13053-015-0043-0. eCollection 2016.
    • Biallelic FANCD1/BRCA2 mutations predisposing to glioblastoma multiforme with multiple oncogenic amplifications.
    • Dodgshun AJ, Sexton-Oates A, Saffery R, Sullivan MJ.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):53-6. doi: 10.1016/j.cancergen.2015.11.005. Epub 2015 Dec 9.
    • Genomic Characterization of Poorly Differentiated Neuroendocrine Carcinoma in a Pediatric Patient.
    • Bhatla T, Dandekar S, Lu BY, Wang J, Han E, Bitterman D, Jones CL, Evensen NA, Magid M, Meyer JA, Carroll WL.
    • J Pediatr Hematol Oncol. 2016 Jan;38(1):e21-5. doi: 10.1097/MPH.0000000000000463.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

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    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

    • Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.
    • Zhang X, Wang T, Wang W, Ding Y, Zhou L, Chen Q, Gao X, Wu Y, Mei Y, Jin Y, Gao Q, Yi L.
    • Gene. 2015 Dec 1;573(2):333-7. doi: 10.1016/j.gene.2015.08.069. Epub 2015 Sep 4.
    • Case report
    • Early Occurrence of Angiosarcoma in a Woman With a BRCA2 Gene Variation of Unknown Significance Treated With Breast-Conserving Therapy for Bilateral Ductal Carcinoma: A Case Report.
    • Parvez E, Popovic S, Elavathil L, Okawara G, Hodgson N.
    • Clin Breast Cancer. 2015 Dec;15(6):536-8. doi: 10.1016/j.clbc.2015.06.011. Epub 2015 Jun 22.
    • Case report
    • Loss of heterozygosity in non-traditional cancers occurring in BRCA1 and BRCA2 mutation carriers.
    • McIlwain C, Norquist B, Bernards S, Agnew K, Swisher E.
    • Gynecologic Oncology. 2015 Oct;139(1):200. 2015 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2015.07.075.
    • Conference abstract
    • Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
    • Saam J, Arnell C, Theisen A, Moyes K, Marino I, Roundy KM, Wenstrup RJ.
    • Oncology. [2015 Oct;]89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.
    • Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study.
    • Segev Y, Rosen B, Lubinski J, Gronwald J, Lynch HT, Moller P, Kim-Sing C, Ghadirian P, Karlan B, Eng C, Gilchrist D, Neuhausen SL, Eisen A, Friedman E, Euhus D, Ping S, Narod SA; Hereditary Breast Cancer Study Group.
    • Fam Cancer. 2015 Sep;14(3):383-91. doi: 10.1007/s10689-015-9798-8.
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
    • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.
    • Gastroenterology. 2015 Sep;149(3):604-613.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

    Related:

    Editorial

    Next Generation Multigene Panel Testing: The Next Step for Identification of Hereditary Colorectal Cancer Syndromes?

    • Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia.
    • Xu J, Margol AS, Shukla A, Ren X, Finlay JL, Krieger MD, Gilles FH, Couch FJ, Aziz M, Fung ET, Asgharzadeh S, Barrett MT, Erdreich-Epstein A.
    • Front Oncol. 2015 Aug 27;5:191. doi: 10.3389/fonc.2015.00191. eCollection 2015.
    • BRCA 1/2 gene mutation and gastrointestinal stromal tumours: a potential association.
    • Waisbren J, Uthe R, Siziopikou K, Kaklamani V.
    • BMJ Case Rep. 2015 Jul 6;2015. pii: bcr2014208830. doi: 10.1136/bcr-2014-208830.
    • Case report
    • The association between breast cancer and thyroid cancer: a meta-analysis.
    • Joseph KR, Edirimanne S, Eslick GD.
    • Breast Cancer Res Treat. 2015 Jul;152(1):173-81. doi: 10.1007/s10549-015-3456-6. Epub 2015 Jun 10.
    • Meta-Analysis, Review
    • Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.
    • Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH.
    • Cancer Res Treat. 2015 Jul;47(3):534-8. doi: 10.4143/crt.2013.151. Epub 2014 Oct 17.
    • Comment on: Endometrial cancer occurrence five years after breast cancer in BRCA2 mutation patient.
    • Choi MC, Kim MS, Lee GH, Lee JM.
    • Obstet Gynecol Sci. 2015 Jul;58(4):331-2. doi: 10.5468/ogs.2015.58.4.331. Epub 2015 Jul 16.
    • Characteristics of ovarian tumors of low malignant potential in BRCA mutation carriers: A case series.
    • Matsuo K, Tierney KE, Schneider DM, Mhawech-Fauceglia P, Roman LD, Gershenson DM.
    • Gynecol Oncol Rep. 2015 Jun 11;13:36-9. doi: 10.1016/j.gore.2015.06.003. eCollection 2015.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Ovarian Tumor of LMP

    • Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
    • Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E.
    • Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015.
    • Do mutations in BRCA1/BRCA2 confer a higher risk of skin cancer?
    • Wu S.
    • Br J Dermatol. 2015 Jun;172(6):1473. doi: 10.1111/bjd.13767.
    • Comment

    Related:

    Review

    Skin cancer risk in BRCA1/2 mutation carriers.

    • Skin cancer risk in BRCA1/2 mutation carriers.
    • Gumaste PV, Penn LA, Cymerman RM, Kirchhoff , Polsky D, McLellan B.
    • Br J Dermatol. 2015 Jun;172(6):1498-506. doi: 10.1111/bjd.13626. Epub 2015 Apr 29.
    • Review

    Related:

    Comment

    Do mutations in BRCA1/BRCA2 confer a higher risk of skin cancer?

    • BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X.
    • Garre P, Martín L, Sanz J, Romero A, Tosar A, Bando I, Llovet P, Diaque P, García-Paredes B, Díaz-Rubio E, de la Hoya M, Caldés T.
    • Clin Genet. 2015 Jun;87(6):582-7. doi: 10.1111/cge.12427. Epub 2014 Jun 18.
    • Genitourinary Cancers Other than Prostate Cancer in a BRCA-tested Cohort from a Single Institution.
    • Alanee S, Schrader K, Offit K.
    • Eur Urol. 2015 Jun;67(6):1196-7. doi: 10.1016/j.eururo.2015.01.001. Epub 2015 Jan 14.
    • Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis.
    • Lee SH, Koh YW, Roh HJ, Cha HJ, Kwon YS.
    • Genes Chromosomes Cancer. 2015 Jun;54(6):353-60. doi: 10.1002/gcc.22233. Epub 2015 Mar 28.
    • Case report
    • Integrative clinical genomics of advanced prostate cancer.
    • Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, Brennan C, Siddiqui J, Mehra R, Chen Y, Rathkopf DE, Morris MJ, Solomon SB, Durack JC, Reuter VE, Gopalan A, Gao J, Loda M, Lis RT, Bowden M, Balk SP, Gaviola G, Sougnez C, Gupta M, Yu EY, Mostaghel EA, Cheng HH, Mulcahy H, True LD, Plymate SR, Dvinge H, Ferraldeschi R, Flohr P, Miranda S, Zafeiriou Z, Tunariu N, Mateo J, Perez-Lopez R, Demichelis F, Robinson BD, Schiffman M, Nanus DM, Tagawa ST, Sigaras A, Eng KW, Elemento O, Sboner A, Heath EI, Scher HI, Pienta KJ, Kantoff P, de Bono JS, Rubin MA, Nelson PS, Garraway LA, Sawyers CL, Chinnaiyan AM.
    • Cell. 2015 May 21;161(5):1215-28. doi: 10.1016/j.cell.2015.05.001.

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    Comment:

    Building a hit list for the fight against metastatic castration resistant prostate cancer.

    Commentary:

    Commentary on "Integrative clinical genomics of advanced prostate cancer". Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, Brennan C, Siddiqui J, Mehra R, Chen Y, Rathkopf DE, Morris MJ, Solomon SB, Durack JC, Reuter VE, Gopalan A, Gao J, Loda M, Lis RT, Bowden M, Balk SP, Gaviola G, Sougnez C, Gupta M, Yu EY, Mostaghel EA, Cheng HH, Mulcahy H, True LD, Plymate SR, Dvinge H, Ferraldeschi R, Flohr P, Miranda S, Zafeiriou Z, Tunariu N, Mateo J, Perez-Lopez R, Demichelis F, Robinson BD, Schiffman M, Nanus DM, Tagawa ST, Sigaras A, Eng KW, Elemento O, Sboner A, Heath EI, Scher HI, Pienta KJ, Kantoff P, de Bono JS, Rubin MA, Nelson PS, Garraway LA, Sawyers CL, Chinnaiyan AM.Cell. 21 May 2015;161(5):1215-1228.

    • Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy.
    • Pina C, Khattab A, Katzman P, Bruckner L, Andolina J, New M, Yau M.
    • J Pediatr Endocrinol Metab. 2015 May 1;28(5-6):663-7. doi: 10.1515/jpem-2014-0299.
    • Case report
    • BRCA1 and BRCA2 mutations and the risk for colorectal cancer.
    • Sopik V, Phelan C, Cybulski C, Narod SA.
    • Clin Genet. 2015 May;87(5):411-8. doi: 10.1111/cge.12497. Epub 2014 Oct 21.
    • Review

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    Comment / Letter

    Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?

    Reply / Letter

    Response to Evans et al.

    • Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the Creighton University Hereditary Cancer Registry with review of the implications.
    • Casey MJ, Bewtra C, Lynch HT, Snyder CL, Stacey M.
    • Int J Gynecol Cancer. 2015 May;25(4):650-6. doi: 10.1097/IGC.0000000000000402.
    • A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer.
    • Delahaye-Sourdeix M, Anantharaman D, Timofeeva MN, Gaborieau V, Chabrier A, Vallée MP, Lagiou P, Holcátová I, Richiardi L, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Thakker NS, Conway DI, Znaor A, Healy CM, Ahrens W, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Fabianova E, Mates IN, Bencko V, Foretova L, Janout V, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Eluf-Neto J, Boffetta P, Fernández Garrote L, Polesel J, Lener M, Jaworowska E, Lubiński J, Boccia S, Rajkumar T, Samant TA, Mahimkar MB, Matsuo K, Franceschi S, Byrnes G, Brennan P, McKay JD.
    • J Natl Cancer Inst. 2015 Apr 2;107(5). pii: djv037. doi: 10.1093/jnci/djv037. Print 2015 May.

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    BRCA2-Branching Out Too?

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    BRCA2 variant aerodigestive cancer risk.

    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

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    • Beebe-Dimmer JL, Yee C, Cote ML, Petrucelli N, Palmer N, Bock C, Lane D, Agalliu I, Stefanick ML, Simon MS.
    • Cancer. 2015 Apr 15;121(8):1265-72. doi: 10.1002/cncr.29075. Epub 2015 Mar 9.

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    • BRCA1 germline mutation and glioblastoma development: report of cases.
    • Boukerroucha M, Josse C, Segers K, El-Guendi S, Frères P, Jerusalem G, Bours V.
    • BMC Cancer. 2015 Mar 26;15:181. doi: 10.1186/s12885-015-1205-1.
    • Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient.
    • Oh SE, Kim SH, Kim MS, Kim MK.
    • Obstet Gynecol Sci. 2015 Mar;58(2):175-8. doi: 10.5468/ogs.2015.58.2.175. Epub 2015 Mar 16.
    • Endometrial adenocarcinoma after risk reducing bilateral salpingo-oophorectomy
    • Catherine Naber, Elise Everett, Cheung Wong
    • Gynecologic Oncology, 2015 Feb;136(2):395. 2014 NEAGO Abstracts. doi: 10.1016/j.ygyno.2014.11.024.
    • Conference abstract
    • Familial risk of melanoma and links with other cancers.
    • Lee KC, Higgins HW 2nd, Qureshi AA.
    • Melanoma Manag. 2015 Feb;2(1):83-89. doi: 10.2217/mmt.14.34. Epub 2015 Feb 25.
    • Survival outcome in endometrial cancer patients according to hereditary predisposition.
    • Yoo HJ, Lim MC, Son Y, Seo SS, Kang S, Kim SH, Yoo CW, Park SY.
    • Taiwan J Obstet Gynecol. 2015 Feb;54(1):24-8. doi: 10.1016/j.tjog.2014.11.003.
    • Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian.
    • Mersch J, Jackson MA, Park M, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK.
    • Cancer. 2015 Jan 15;121(2):269-75. doi: 10.1002/cncr.29041. Epub 2014 Sep 15.
    • Association of genetic polymorphisms in AURKA, BRCA1, CCNE1 and CDK2 with the risk of endometrial carcinoma and clinicopathological parameters among Chinese Han women.
    • Zheng LY, Song AP, Chen L, Liu DG, Li XH, Guo HY, Tian XX, Fang WG.
    • Eur J Obstet Gynecol Reprod Biol. 2015 Jan;184:65-72. doi: 10.1016/j.ejogrb.2014.11.001. Epub 2014 Nov 20.
    • BRCA2-associated therapy-related acute myeloid leukemia.
    • Rashidi A, Amarillo I, Fisher SI.
    • Med Oncol. 2015 Jan;32(1):371. doi: 10.1007/s12032-014-0371-3. Epub 2014 Nov 27.
    • Letter, Case Report
    • The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population.
    • Wang K, Xu L, Pan L, Xu K, Li G.
    • Tumour Biol. 2015 Jan;36(1):393-7. doi: 10.1007/s13277-014-2655-9. Epub 2014 Sep 30.
    • Higher than expected frequencies of non-ovarian cancers within a large familial ovarian cancer registry.
    • Brightwell RM, Grzankowski KS, Kaur J, Poblete S, Miller A, Lele SB, Sucheston-Campbell L, Moysich K, Odunsi KO.
    • Am J Clin Exp Obstet Gynecol. 2015;2(1):39-44. Epub 2015 Feb 15.
    • Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
    • Wong A, Ngeow J.
    • Biomed Res Int. 2015;2015:219012. doi: 10.1155/2015/219012. Epub 2015 Jun 16.
    • Salivary gland cancer in BRCA-positive families: a retrospective review.
    • Shen TK, Teknos TN, Toland AE, Senter L, Nagy R.
    • JAMA Otolaryngol Head Neck Surg. 2014 Dec;140(12):1213-7. doi: 10.1001/jamaoto.2014.1998.

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    Salivary gland cancer risk and BRCA gene mutations may be linked, study finds.

    Press: BRCA Mutations Linked to Salivary Gland Cancer. (Medscape)

    • Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic.
    • Walker R, Louis A, Berlin A, Horsburgh S, Bristow RG, Trachtenberg J.
    • Can Urol Assoc J. 2014 Nov;8(11-12):E783-8. doi: 10.5489/cuaj.1970.
    • [Gliomas and BRCA genes mutations: fortuitous association or imputability?].
    • Girardstein-Boccara L, Mari V, Met-Domestici M, Burel-Vandenbos F, Berthet P, Paquis P, Frenay MP, Lebrun-Frenay C.
    • Bull Cancer. 2014 Sep;101(9):795-802. doi: 10.1684/bdc.2014.1952.
    • Case report, [Article in French]
    • 5Risk of developing uterine corpus cancer (Ut Ca) following risk-reducing salpingo-oophorectomy (RRSO) in women with BRCA mutations.
    • Shu CA, Pike M, Jotwani AR, Soslow RA, Levine DA, Konner J, Aghajanian C, Offit K, Barakat RR, Kauff ND.
    • Gynecologic Oncology 2014 Aug;134(2):440. Late Breaking Abstracts from the Society of Gynecologic Oncology's 2014 Annual Meeting on Women's Cancer. doi:10.1016/j.ygyno.2014.07.082.
    • Conference abstract
    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    • Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallée M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Lener M, Lubiński J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjønneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI.
    • Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 increased risk for lung cancer?

    Subject: BRCA2 testing for lung cancer?

    News

    BRCA2 Mutation Linked to Lung Cancer Risk.

    Research News

    Smokers with gene defect have higher risk of developing lung cancer.

    Press: BRCA2 gene mutations linked to lung cancer risk in smokers (PHG Foundation)

    Press: BRCA2 Variant Linked to Lung Cancer Risk. (Medscape Oncology)

    • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
    • Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
    • Wójcicka A, Czetwertyńska M, Świerniak M, Długosińska J, Maciąg M, Czajka A, Dymecka K, Kubiak A, Kot A, Płoski R, de la Chapelle A, Jażdżewski K.
    • Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. doi: 10.1002/gcc.22162. Epub 2014 Mar 6.
    • Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.
    • Kim HN, Kim NY, Yu L, Kim YK, Lee IK, Yang DH, Lee JJ, Shin MH, Park KS, Choi JS, Kim HJ.
    • Int J Mol Sci. 2014 Apr 21;15(4):6703-16. doi: 10.3390/ijms15046703.
    • BRCA1 Linked to Higher Risk for Aggressive Uterine Cancer.
    • Roxanne Nelson.
    • Medscape Medical News from the Society of Gynecologic Oncology (SGO) 45th Annual Meeting on Women's Cancer, 2014 Mar 25.
    • Ampulla of vater adenocarcinoma in a BRCA2 germline mutation carrier.
    • Aburjania N, Truskinovsky AM, Overman MJ, Lou E.
    • J Gastrointest Cancer. 2014 Mar;45(1):87-90. doi: 10.1007/s12029-013-9479-5.
    • Case report
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study.
    • Phelan CM, Iqbal J, Lynch HT, Lubinski J, Gronwald J, Moller P, Ghadirian P, Foulkes WD, Armel S, Eisen A, Neuhausen SL, Senter L, Singer CF, Ainsworth P, Kim-Sing C, Tung N, Llacuachaqui M, Chornokur G, Ping S, Narod SA; Hereditary Breast Cancer Study Group.
    • Br J Cancer. 2014 Jan 21;110(2):530-4. doi: 10.1038/bjc.2013.741. Epub 2013 Nov 28.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    Subject: BRCA & Colon

    • No Link between Breast Cancer and Meningioma: Results from a Large Monoinstitutional Retrospective Analysis.
    • Criscitiello C, Disalvatore D, Santangelo M, Rotmensz N, Bazolli B, Maisonneuve P, Goldhirsch A, Curigliano G.
    • Cancer Epidemiol Biomarkers Prev. 2014 Jan;23(1):215-7. doi: 10.1158/1055-9965.EPI-13-1041. Epub 2013 Oct 28.
    • BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective.
    • Foulkes W.
    • Clin Genet. 2014 Jan;85(1):1-4. doi: 10.1111/cge.12291. Epub 2013 Oct 25.
    • Editorial / Commentary
    • Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
    • Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P.
    • Fam Cancer. 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x.
    • A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma.
    • Zhang X, Wei J, Zhou L, Zhou C, Shi J, Yuan Q, Yang M, Lin D.
    • Carcinogenesis. 2013 Oct;34(10):2309-13. doi: 10.1093/carcin/bgt213. Epub 2013 Jun 8.
    • Pelvic Kidney in a BRCA-1-Positive Patient Undergoing Prophylactic Bilateral Salpingo-oophorectomy.
    • Brotherton J, Pedroso J.
    • J Minim Invasive Gynecol. 2013 Sep-Oct;20(5):547-8. doi: 10.1016/j.jmig.2013.01.017. Epub 2013 Apr 2.
    • Case report
    • BRCA1 gene mutation in thymic malignant melanoma.
    • Yi EJ, Park JH, Lee HW, Cho SY, Na II, Kang MC.
    • Ann Thorac Surg. 2013 Aug;96(2):677-80. doi: 10.1016/j.athoracsur.2012.12.017.
    • Occult cancer: suspected breast and BRCA gene mutations.
    • Mollie L. Hutton, Nicoleta C. Voian, Carolyn D. Farrell.
    • Community Oncology. 10(7):202-8. 2013 Jul.
    • The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: An international prospective cohort study.
    • Segev Y, Iqbal J, Lubinski J, Gronwald J, Lynch HT, Moller P, Ghadirian P, Rosen B, Tung N, Kim-Sing C, Foulkes WD, Neuhausen SL, Senter L, Singer CF, Karlan B, Ping S, Narod SA; Hereditary Breast Cancer Study Group.
    • Gynecol Oncol. 2013 Jul;130(1):127-31. doi: 10.1016/j.ygyno.2013.03.027. Epub 2013 Apr 3.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA mutations and endometrial cancer

    Subject: Article request

    • Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
    • Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN.
    • Med Oncol. 2013 Jun;30(2):545. doi: 10.1007/s12032-013-0545-4. Epub 2013 Mar 27.
    • Association of primary breast cancer of the vulva with hereditary breast and ovarian cancer.
    • Lamb A, Darus CJ, Skripenova S, Weisberg T, Miesfeldt S.
    • J Clin Oncol. 2013 May 1;31(13):e231-2. doi: 10.1200/JCO.2012.45.5972. Epub 2013 Mar 25.
    • Case report
    • Perivascular epithelioid cell tumor: the first malignant case report in the pancreas.
    • Mourra N, Lazure T, Colas C, Arrive L, de Gramont A.
    • Appl Immunohistochem Mol Morphol. 2013 May;21(3):e1-4. doi: 10.1097/PAI.0b013e3182392bb6.
    • Case report
    • Endometrium is not the primary site of origin of pelvic high-grade serous carcinoma in BRCA1 or BRCA2 mutation carriers.
    • Reitsma W, Mourits MJ, de Bock GH, Hollema H.
    • Mod Pathol. 2013 Apr;26(4):572-8. doi: 10.1038/modpathol.2012.169. Epub 2012 Oct 19.
    • Risk-Reducing Appendectomy and the Elimination of BRCA1 -Associated Intraperitoneal Cancer.
    • Sitzmann JV, Wiebke EA.
    • JAMA Surg. 2013 Mar 1;148(3):285-91. doi: 10.1001/jamasurg.2013.1006.

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    • Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.
    • Alanee S, Shah S, Murali R, Rau-Murthy R, Schrader KA, Offit K.
    • Fam Cancer. 2013 Mar;12(1):125-7. doi: 10.1007/s10689-012-9572-0.
    • Case report, Letter

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Should I test for Cowden?

    • First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
    • Ripamonti CB, Colombo M, Mondini P, Siranoush M, Peissel B, Bernard L, Radice P, Carcangiu ML.
    • BMC Cancer. 2013 Feb 1;13:46. doi: 10.1186/1471-2407-13-46.
    • BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
    • Pennington KP, Walsh T, Lee M, Pennil C, Novetsky AP, Agnew KJ, Thornton A, Garcia R, Mutch D, King MC, Goodfellow P, Swisher EM.
    • Cancer. 2013 Jan 15;119(2):332-8. doi: 10.1002/cncr.27720. Epub 2012 Jul 18.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 loss of expression in Uetrine Serous carcinoma

    Subject: BRCA mutations and endometrial cancer

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    • Peng M, Bakker JL, Dicioccio RA, Gille JJ, Zhao H, Odunsi K, Sucheston L, Jaafar L, Mivechi NF, Waisfisz Q, Ko L.
    • Genes Cancer. 2013 Jan;4(1-2):15-25. doi: 10.1177/1947601913486344.
    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
    • Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, Peixoto A, Teixeira MR, Vargas FR.
    • Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
    • Malignant peripheral nerve sheath tumours in inherited disease.
    • Evans DG, Huson SM, Birch JM.
    • Clin Sarcoma Res. 2012 Oct 4;2(1):17. doi: 10.1186/2045-3329-2-17.
    • 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.
    • Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
    • Schulz E, Valentin A, Ulz P, Beham-Schmid C, Lind K, Rupp V, Lackner H, Wölfler A, Zebisch A, Olipitz W, Geigl J, Berghold A, Speicher MR, Sill H.
    • J Med Genet. 2012 Jul;49(7):422-8. doi: 10.1136/jmedgenet-2011-100674. Epub 2012 May 31.
    • 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.
    • Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population.
    • Salagovič J, Klimčáková L, Ilenčíková D, Kafková A.
    • Med Oncol. 2012 Jun;29(2):1173-8. doi: 10.1007/s12032-011-9925-9. Epub 2011 Apr 8.
    • A seldom case of primary urethral malignant melanoma and breast cancer detected by (18)F-FDG PET/CT.
    • Agrawal KL, Mittal BR, Manohar K, Bhattacharya A, Kumar S, Singh SK.
    • Hell J Nucl Med. 2012 May-Aug;15(2):157-8. doi: 10.1967/s002449910036. Epub 2012 Jun 27.
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.
    • Gong P, Charles S, Rosenblum N, Wang Z, Witkiewicz AK.
    • Gynecol Oncol Case Rep. 2012 Mar 15;2(3):69-72. doi: 10.1016/j.gynor.2012.03.001. eCollection 2012.

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    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Comments?

    • 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.
    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.