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    • Commentary

    Original research:

    Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese.

    • Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
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    • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
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    • Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study.
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    Commentary:

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

    • Clinical application of comprehensive genomic profiling panel to thoracic malignancies: A single-center retrospective study.
    • Kunimasa K, Sugimoto N, Kawamura T, Yamasaki T, Honma K, Nagata S, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Kitasaka M, Wakamatsu T, Yamai T, Yamamoto S, Hayashi T, Inoue T, Tamiya M, Imamura F, Nishimura K, Nishino K.
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    • Altundag K.
    • Breast Cancer Res Treat. 2022 Sep 10. doi: 10.1007/s10549-022-06742-w. Epub ahead of print.

    Original research:

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

    • Prevalence and risk estimation of cancer-predisposing genes for upper urinary tract urothelial carcinoma in Japanese.
    • Sekine Y, Iwasaki Y, Hakozaki N, Endo M, Kamatani Y, Matsuda K, Murakami Y, Sano T, Akamatsu S, Kobayashi T, Nakagawa H, Numakura K, Narita S, Habuchi T, Momozawa Y.
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    • Lung Cancer. 2022 Sep 6;173:67-70. doi: 10.1016/j.lungcan.2022.09.002. Epub ahead of print.
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    • Role of genetic testing in hepatic, pancreatic, and biliary cancers.
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    • Genetics of testicular cancer: a review.
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    • Curr Opin Urol. 2022 Sep 1;32(5):481-487. doi: 10.1097/MOU.0000000000001017. Epub 2022 Jul 18.
    • Review
    • Significance of prostate/pancreatic/skin cancer family history for detecting BRCA2 pathogenic variant careers among patients with breast cancer.
    • Minoura Y, Takahashi M, Maeda H, Kuwahara S, Tachikawa H, Yamamoto M, Tomioka N, Watanabe K, Sakurai A.
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    • A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.
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    • 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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    • 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.
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    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
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    • 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.
    • Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089.
    • 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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    • Oncologists Consider Germline Testing in Lung Cancer Patients Amid New Data Showing High Prevalence.
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    • Conference report
    • Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
    • Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D.
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    • Front Pharmacol. 2022 Aug 12;13:968060. doi: 10.3389/fphar.2022.968060.
    • 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.
    • Crabb SJ, Hussain S, Soulis E, Hinsley S, Dempsey L, Trevethan A, Song Y, Barber J, Frew J, Gale J, Faust G, Brock S, McGovern U, Parikh O, Enting D, Sundar S, Ratnayake G, Lees K, Birtle AJ, Powles T, Jones RJ.
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    • 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.
    • Jin C, He Z, Guo M, Liu S, Wang Y, Qiu J, Li C, Wu D.
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    • Case report
    • Do Female BRCA2 Pathogenic Variant Carriers Have an Increased Risk of Lung Cancer?
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    • J Clin Oncol. 2022 Aug 1;40(22):2508. doi: 10.1200/JCO.22.00488. Epub 2022 May 12.

    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.
    • Nikolov I, Kostev K, Kalder M.
    • Breast Cancer Res Treat. 2022 Aug;195(1):75-82. doi: 10.1007/s10549-022-06666-5. Epub 2022 Jul 12.
    • 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.
    • Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED.
    • 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.
    • Idoudi S, Golmard L, Harou O, Martin-Denavit T, Tantot J, Dalle S.
    • 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.
    • Asa SL, Wilhelm SM, Farrell R.
    • 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.
    • Kar SP, Quiros PM, Gu M, Jiang T, Mitchell J, Langdon R, Iyer V, Barcena C, Vijayabaskar MS, Fabre MA, Carter P, Petrovski S, Burgess S, Vassiliou GS.
    • Nat Genet. 2022 Aug;54(8):1155-1166. doi: 10.1038/s41588-022-01121-z. Epub 2022 Jul 14.

    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.
    • Wu M, Krishnamurthy K.
    • 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.
    • Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
    • Pietzak EJ, Whiting K, Srinivasan P, Bandlamudi C, Khurram A, Joseph V, Walasek A, Bochner E, Clinton T, Almassi N, Truong H, de Jesus Escano MR, Wiseman M, Mandelker D, Kemel Y, Zhang L, Walsh MF, Cadoo KA, Coleman JA, Al-Ahmadie H, Rosenberg JE, Iyer GV, Solit DB, Ostrovnaya I, Offit K, Robson ME, Stadler ZK, Berger MF, Bajorin DF, Carlo M, Bochner BH.
    • Clin Cancer Res. 2022 Jul 14:ccr.22.1006. doi: 10.1158/1078-0432.CCR-22-1006. Epub ahead of print.
    • 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.

    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.
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    • Rare germline deleterious variants increase susceptibility for lung cancer.
    • Sang J, Zhang T, Kim J, Li M, Pesatori AC, Consonni D, Song L, Liu J, Zhao W, Hoang PH, Campbell DS, Feng J, D'Arcy ME, Synnott N, Chen Y, Wu Z, Zhu B, Yang XR, Brown KM, Choi J, Shi J, Landi MT.
    • Hum Mol Genet. 2022 Jun 18:ddac123. doi: 10.1093/hmg/ddac123. Epub ahead of print.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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    • 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.

    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.

    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.
    • Case report
    • Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies.
    • Nie D, Zhang J, Wang F, Li X, Liu L, Zhang W, Cao P, Chen X, Zhang Y, Chen J, Ma X, Zhou X, Wu Q, Liu M, Liu M, Tian W, Liu H.
    • Front Med. 2022 Jun;16(3):459-466. doi: 10.1007/s11684-021-0841-x. Epub 2021 Nov 6.
    • Utility of germline multi-gene panel testing in patients with endometrial cancer.
    • Karpel HC, Chern JY, Smith J M, Smith A J, Pothuri B.
    • Gynecol Oncol. 2022 Jun;165(3):546-551. doi: 10.1016/j.ygyno.2022.04.003. Epub 2022 Apr 26.
    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report
    • Delayed Craniospinal Metastasis of Aggressive Nonfunctioning Pituitary Adenomas as Pituitary Carcinomas.
    • Raghu ALB, Everson MC, Helal A, Kiyofuji S, Clarke MJ, Link MJ.
    • J Neurol Surg B Skull Base. 2021 Mar 1 [eCollection 2022 Jun];83(Suppl 2):e253-e259. doi: 10.1055/s-0041-1725024.
    • Endometrial Cancer and BRCA Mutations: A Systematic Review.
    • Gasparri ML, Bellaminutti S, Farooqi AA, Cuccu I, Di Donato V, Papadia A.
    • J Clin Med. 2022 May 31;11(11):3114. doi: 10.3390/jcm11113114.
    • Genomic features of Chinese small cell lung cancer.
    • Liu J, Zhao Z, Wei S, Li B, Zhao Z.
    • BMC Med Genomics. 2022 May 20;15(1):117. doi: 10.1186/s12920-022-01255-3.
    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    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.
    • Cheng X, Yu H, Li J, Han X, Meng E, Zhou H, Wang D, Niu B, Zhang X.
    • Cancer Biol Ther. 2022 Dec 31 [Published online: 2022 May 16];23(1):393-400. doi: 10.1080/15384047.2022.2072635.
    • The effect of PARP inhibitors in homologous recombination proficient ovarian cancer: meta-analysis.
    • Skelin M, Šarcevic D, Lešin Gacina D, Mucalo I, Dilber I, Javor E.
    • J Chemother. 2022 May 13:1-8. doi: 10.1080/1120009X.2022.2073161. Epub ahead of print.
    • Meta-Analysis
    • Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
    • Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim SW, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC.
    • J Clin Oncol. 2022 May 10;40(14):1529-1541. doi: 10.1200/JCO.21.02112. Epub 2022 Jan 25.

    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.

    • Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.
    • Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh Y, Mutoh M, Ishiguro S, Ishida H.
    • Case Rep Gastroenterol. 2022 Jun 13 [eCollection 2022 May-Aug];16(2):375-381. doi: 10.1159/000524944.
    • Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX.
    • Campoverde LE, Batalini F, Bulushi Y, Bullock A.
    • BMJ Case Rep. 2022 Apr 29;15(4):e249370. doi: 10.1136/bcr-2022-249370.
    • Case report
    • Dermatological and Dermoscopic Baselines in BRCA Mutation Carriers.
    • Paolino G, Pampena R, Di Nicola MR, Longo C, Rognone A, Zambelli S, Bianchini G, Mercuri SR.
    • Front Med (Lausanne). 2022 Apr 29;9:863468. doi: 10.3389/fmed.2022.863468.
    • Minimally invasive secondary cytoreductive surgery for hepato-renal recess isolated recurrence of serous endometrial cancer in BRCA1 mutated patient.
    • Iacobelli V, Taliente F, Scambia G, Fanfani F, Giuliante F, Gallotta V.
    • Int J Gynecol Cancer. 2022 Apr 27:ijgc-2021-003271. doi: 10.1136/ijgc-2021-003271. Epub ahead of print.
    • 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 Apr 14. doi: 10.1001/jamaoncol.2022.0476. Epub ahead of print.
    • Oral Contraceptive Use in BRCA1 and BRCA2 Mutation Carriers: Absolute Cancer Risks and Benefits.
    • Schrijver LH, Mooij TM, Pijpe A, Sonke GS, Mourits MJE, Andrieu N, Antoniou AC, Easton DF, Engel C, Goldgar D, John EM, Kast K, Milne RL, Olsson H, Phillips KA, Terry MB, Hopper JL, van Leeuwen FE, Rookus MA.
    • J Natl Cancer Inst. 2022 Apr 11;114(4):540-552. doi: 10.1093/jnci/djac004.

    Commentary:

    Oral Contraceptives and BRCA Cancer: A Balancing Act.

    • Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.
    • Zlowocka-Perlowska E, Toloczko-Grabarek A, Narod SA, Lubinski J.
    • Hered Cancer Clin Pract. 2022 Apr 8;20(1):13. doi: 10.1186/s13053-022-00220-6.
    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
    • Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C.
    • Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
    • Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
    • Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS.
    • Pediatr Blood Cancer. 2022 Apr 4:e29680. doi: 10.1002/pbc.29680. Epub ahead of print.
    • Case report
    • Core Homologous Recombination Mutations and Improved Survival in Nonpancreatic GI Cancers.
    • Tan E, Whiting J, Knepper T, Xie H, Imanirad I, Carballido E, Felder S, Frakes J, Mo Q, Permuth JB, Somerer K, Kim R, Anaya DA, Fleming JB, Walko C, Sahin IH.
    • Am J Clin Oncol. 2022 Apr 1;45(4):137-141. doi: 10.1097/COC.0000000000000901.
    • A founder CHEK2 pathogenic variant in association with kidney cancer.
    • Brooks K, Holman M, Steding C, Tucker M.
    • Cancer Genet. 2022 Apr;262-263:40-42. doi: 10.1016/j.cancergen.2021.12.007. Epub 2021 Dec 23.
    • Case report
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
    • Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
    • Cancer Med. 2022 Apr;11(8):1745-1752. doi: 10.1002/cam4.4549. Epub 2022 Feb 17.
    • Familial pancreatic cancer: who should be considered for genetic testing?
    • Kartal K, Guan Z, Tang R, Griffin M, Wang Y, Braun D, Klein AP, Hughes KS.
    • Ir J Med Sci. 2022 Apr;191(2):641-650. doi: 10.1007/s11845-021-02572-9. Epub 2021 Mar 17.
    • Cancer Risk Variants Found in Significant Subset of Sarcoma Patient Germlines.
    • [No author given]
    • GenomeWeb. Disease Areas. Cancer. 2022 Mar 25.
    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
    • Godin P, Duhoux FP, Mazzeo F, Rojas M, Bollue E, François A, Galant C, Coulie J, Coyette M, Lentini A, Deswisen Y, Perlepe V, Fellah L, Leconte I, Berlière M.
    • Case Rep Oncol. 2022 Mar 14;15(1):238-244. doi: 10.1159/000521840.
    • Germline Pathogenic Variants in BRCA1 and BRCA2: Malignancies Beyond Female Breast and Ovarian Cancers.
    • Lieberman S, Goldvaser H, Levy-Lahad E.
    • J Clin Oncol. 2022 Mar 14:JCO2200003. doi: 10.1200/JCO.22.00003. Epub ahead of print.
    • Commentary

    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.
    • Catalano F, Borea R, Puglisi S, Boutros A, Gandini A, Cremante M, Martelli V, Sciallero S, Puccini A.
    • Cancers (Basel). 2022 Mar 9;14(6):1388. doi: 10.3390/cancers14061388.
    • Risk of Second Malignant Neoplasm in Familial Non-Medullary Thyroid Cancer Patients.
    • Capezzone M, Sagnella A, Cantara S, Fralassi N, Maino F, Forleo R, Brilli L, Pilli T, Cartocci A, Castagna MG.
    • Front Endocrinol (Lausanne). 2022 Mar 4;13:845954. doi: 10.3389/fendo.2022.845954.
    • 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.
    • A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
    • Rodwin RL, Janardan SK, Hofstatter EW, Kadan-Lottick NS.
    • J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e585-e588. doi: 10.1097/MPH.0000000000002270.
    • Case report
    • Recurrent Acromegaly in a Patient With a CHEK2 Mutation.
    • Perosevic M, Martinez-Lage M, Swearingen B, Tritos NA.
    • AACE Clin Case Rep. 2021 Nov 20 [eCollection Mar-Apr 2022];8(2):85-88. doi: 10.1016/j.aace.2021.10.006.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • 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 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13.
    • Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
    • McGuigan A, Whitworth J, Andreou A, Hearn T; Genomics England Research Consortium, Tischkowitz M, Maher ER.
    • Eur J Hum Genet. 2022 Mar;30(3):265-270. doi: 10.1038/s41431-021-01013-6. Epub 2022 Jan 4.

    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.
    • Lin DI, Fine A, Danziger NA, Huang RSP, Mata DA, Decker B, Killian JK, Ramkissoon SH, Lechpammer M, Janovitz T, Ross JS, Sokol ES, Elvin JA.
    • Gynecol Oncol. 2022 Mar;164(3):558-565. doi: 10.1016/j.ygyno.2021.12.030. Epub 2022 Jan 5.
    • Incidence and Prevalence of Intraductal Papillary Mucinous Neoplasms in Individuals With BRCA1 and BRCA2 Pathogenic Variant.
    • Shah I, Silva-Santisteban A, Germansky KA, Wadhwa V, Tung N, Huang DC, Kandasamy C, Mlabasati J, Bilal M, Sawhney MS.
    • J Clin Gastroenterol. 2022 Feb 28. doi: 10.1097/MCG.0000000000001683. Epub ahead of print.
    • A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient.
    • Rehman O, Sackfield B, Thoguluva Chandrasekar V, Oliver J, Aswath G.
    • Cureus. 2022 Feb 26;14(2):e22631. doi: 10.7759/cureus.22631.
    • Status of the Current Treatment Options and Potential Future Targets in Uterine Leiomyosarcoma: A Review.
    • Asano H, Isoe T, Ito YM, Nishimoto N, Watanabe Y, Yokoshiki S, Watari H.
    • Cancers (Basel). 2022 Feb 24;14(5):1180. doi: 10.3390/cancers14051180.
    • Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.
    • Freire MV, Martin M, Thissen R, Van Marcke C, Segers K, Sépulchre E, Leroi N, Lété C, Fasquelle C, Radermacher J, Gokburun Y, Collignon J, Sacré A, Josse C, Palmeira L, Bours V.
    • Front Oncol. 2022 Feb 24;12:835581. doi: 10.3389/fonc.2022.835581.
    • The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation.
    • Li X, Xue H, Luo N, Han T, Li M, Jia D.
    • Front Genet. 2022 Feb 23;13:718689. doi: 10.3389/fgene.2022.718689.
    • Risk of Second Primary Thyroid Cancer in Women with Breast Cancer.
    • Cieszynska M, Kluzniak W, Wokolorczyk D, Cybulski C, Huzarski T, Gronwald J, Falco M, Debniak T, Jakubowska A, Derkacz R, Marciniak W, Lener M, Woronko K, Mocarz D, Baszuk P, Bryskiewicz M, Narod SA, Lubinski J.
    • Cancers (Basel). 2022 Feb 15;14(4):957. doi: 10.3390/cancers14040957.
    • Phase Ib SEASTAR Study: Combining Rucaparib and Sacituzumab Govitecan in Patients With Cancer With or Without Mutations in Homologous Recombination Repair Genes.
    • Yap TA, Hamilton E, Bauer T, Dumbrava EE, Jeselsohn R, Enke A, Hurley S, Lin KK, Habeck J, Giordano H, Shapiro GI.
    • JCO Precis Oncol. [2022 Feb 9];6:e2100456. doi: 10.1200/PO.21.00456.
    • Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.
    • Uson PLS Jr, Kunze KL, Golafshar MA, Botrus G, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Kahn A, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ.
    • Dig Dis Sci. 2022 Feb 5. doi: 10.1007/s10620-022-07387-x. Epub ahead of print.
    • Studying the association between breast cancer and renal cell carcinoma.
    • Jazieh K, Baidoun F, Torrejon N, Merjaneh Z, Saad A, Gad M, Farouk A, Ornstein M, Abraham J.
    • Breast Cancer Res Treat. 2022 Feb;191(3):643-652. doi: 10.1007/s10549-021-06465-4. Epub 2021 Dec 2.
    • Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
    • Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ.
    • Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18.
    • Pathogenic BRCA2 germline variants in combined hepatocellular-cholangiocarcinoma.
    • Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J.
    • Pathol Int. 2022 Feb;72(2):138-140. doi: 10.1111/pin.13188. Epub 2021 Nov 22.
    • Case report
    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • BRCA Mutations More Strongly Tied to Prostate and Pancreatic Cancer.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Jan 27.

    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.
    • Wei Y, Wei C, Chen L, Liu N, Ou Q, Yin JC, Pang J, Fang Z, Wu X, Wang X, Mu D, Shao Y, Yu J, Yuan S.
    • Cancer Res Treat. 2022 Jan 17. doi: 10.4143/crt.2021.963. Epub ahead of print.
    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
    • Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
    • BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.
    • Complete Response of a Mutated BRCA2 Metastatic Clear Cell Endometrial Adenocarcinoma to the Poly (ADP ribose) Polymerase (PARP) Inhibitor Olaparib.
    • Anzellini D, Arcangeli G, Del Bianco S.
    • Cancer Diagn Progn. 2022 Jan 3;2(1):84-86. doi: 10.21873/cdp.10080.
    • Response to olaparib in metastatic lung adenocarcinoma with germline BRCA2 mutation: a case report.
    • Wu C, Fan M, Hu Y.
    • Anticancer Drugs. 2022 Jan 1;33(1):e734-e737. doi: 10.1097/CAD.0000000000001160.
    • Case report
    • Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
    • Gun-Bilgic D, Aydin-Gumus A, Bilgic A, Cam FS.
    • Clin Lab. 2022 Jan 1;68(1). doi: 10.7754/Clin.Lab.2021.210425.
    • So-Called Serous Carcinoma of the Uterine Cervix with BRCA2 Mutation: Case Report and Review of the Literature.
    • Herrera Gómez RG, Hastir D, Liapi A, Dolcan A, Herrera FG, Mathevet P, Sarivalasis A.
    • Case Rep Oncol. 2021 Dec 20;14(3):1792-1798. doi: 10.1159/000520429.
    • A húgyhólyagrák molekuláris klasszifikációja, 2021 [Molecular classification of bladder cancer in 2021].
    • Lotz G, Kocsmár I, Tímár J.
    • Magy Onkol. 2021 Dec 7;65(4):301-306. Hungarian. Epub 2021 Oct 20.
    • Epidemiology of Ductal Carcinoma In Situ.
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    • Chirurgia (Bucur). 2021 Dec;116(500):S15-S21. doi: 10.21614/chirurgia.116.5.suppl.S15.
    • Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
    • Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI.
    • Eur Urol Oncol. 2021 Dec;4(6):993-1000. doi: 10.1016/j.euo.2021.09.005. Epub 2021 Oct 12.
    • Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
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    • Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Nov 30.

    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.
    • Calvo Chozas A, Mahjani B, Rönnegård L.
    • Hum Hered. 2021 Nov 30. doi: 10.1159/000521215. Epub ahead of print.
    • Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.
    • Jia X, Zhao S, Li X, Lv L, Chen X, Pan E, Ou Q, Song C, Sun S, Zhao J, Xu L, Li M.
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    • J Natl Cancer Inst. 2021 Sep 4;113(9):1203-1211. doi: 10.1093/jnci/djab036.

    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.
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    • J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.

    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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    • 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.

    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
    • 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.

    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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    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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    • Letter
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    Research news: Secondary Tumor Risk in Pediatric Cancer Survivors Linked to Germline Variants, Treatment Type. (GenomeWeb)

    • The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
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    • Review

    Commentary:

    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?

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    • Letter
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    • Review
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    Research news: Pediatric Cancer Patients With Solid Tumors Have Many Druggable Germline Alterations. (GenomeWeb)

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    Original research:

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    Letter, Reply:

    Response to Yang, Shi, Wang, et al.

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    Original research:

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

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    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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    • Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
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    • Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
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    Research News:

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

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    • Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation.
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    • Durable response in a woman with recurrent low-grade endometrioid endometrial cancer and a germline BRCA2 mutation treated with a PARP inhibitor.
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    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
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    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
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    • Complete Remission Following Pembrolizumab in a Woman with Mismatch Repair-Deficient Endometrial Cancer and a Germline BRCA1 Mutation.
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    • Oncologist. 2018 Jun;23(6):650-653. doi: 10.1634/theoncologist.2017-0526. Epub 2018 Feb 22.
    • Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel.
    • Quaas A, Waldschmidt D, Alakus H, Zander T, Heydt C, Goeser T, Daheim M, Kasper P, Plum P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Göbel H, Tharun L, Buettner R, Merkelbach-Bruse S.
    • BMC Gastroenterol. 2018 May 31;18(1):75. doi: 10.1186/s12876-018-0803-1.
    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
    • Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H3, King MC.
    • Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.
    • Clinical criteria revision for hereditary lobular breast cancer associated with E-cadherin germline mutations.
    • Corso G, De Scalzi A, Feroce I, Veronesi P, Bonanni B, Galimberti V.
    • Per Med. 2018 May 1;15(3):153-155. doi: 10.2217/pme-2017-0083. Epub 2018 May 10.
    • Editorial, Review
    • Genomic Characterization of Biliary Tract Cancers Identifies Driver Genes and Predisposing Mutations.
    • Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H.
    • J Hepatol. 2018 May;68(5):959-969. doi: 10.1016/j.jhep.2018.01.009. Epub 2018 Jan 31.
    • Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
    • Pande M, Joon A, Brewster AM, Chen WV, Hopper JL, Eng C, Shete S, Casey G, Schumacher F, Lin Y, Harrison TA, White E, Ahsan H, Andrulis IL, Whittemore AS, John EM, Ko Win A, Makalic E, Schmidt DF, Kapuscinski MK, Ochs-Balcom HM, Gallinger S, Jenkins MA, Newcomb PA, Lindor NM, Peters U, Amos CI, Lynch PM.
    • PLoS One. 2018 Apr 26;13(4):e0196245. doi: 10.1371/journal.pone.0196245. eCollection 2018.
    • 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.
    • Whynott RM, Manahan KJ, Geisler JP.
    • 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.
    • Harao M, Ando J, Kamata H, Hoshi N, Igarashi S, Sekiguchi R, Sugano K.
    • Breast Cancer. 2018 Mar;25(2):243-249. doi: 10.1007/s12282-017-0813-9. Epub 2017 Nov 1.
    • Case report, Review
    • Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers.
    • Grinshpun A, Halpern N, Granit RZ, Hubert A, Hamburger T, Laitman Y, Shacham-Shmueli E, Peerless Y, Friedman E, Peretz T.
    • Eur J Hum Genet. 2018 Mar;26(3):382-386. doi: 10.1038/s41431-017-0067-1. Epub 2018 Jan 10.
    • 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.

    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.
    • Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.
    • 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.
    • Rao R, Pointdujour-Lim R, Ganguly A, Shields CL.
    • 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.
    • Zheng G, Yu H, Hemminki A, Försti A, Sundquist K, Hemminki K.
    • Breast Cancer Res Treat. 2017 Dec;166(3):897-902. doi: 10.1007/s10549-017-4468-1. Epub 2017 Aug 23.
    • Clinical Presentation and Staging of Melanoma.
    • Ward WH, Lambreton F, Goel N, Yu JQ, Farma JM.
    • 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.
    • Chaudhary D, Ahluwalia R, Rai A.
    • Indian J Surg. 2017 Dec;79(6):544-548. doi: 10.1007/s12262-016-1524-8. Epub 2016 Jul 16.
    • Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
    • Nejadtaghi M, Jafari H, Farrokhi E, Samani KG.
    • 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.

    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]
    • My Gene Counsel. 2016 Nov 22.
    • 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.

    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.

    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.

    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.

    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.

    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

    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.

    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.

    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.

    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.

    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

    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

    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.

    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

    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.

    Comment / Editorial

    BRCA2-Branching Out Too?

    News

    BRCA2 variant aerodigestive cancer risk.

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

    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

    Largest set of human genomes from a single population is sequenced.

    • Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
    • 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.

    Press: Prostate Cancer Family History Linked to Breast Cancer Risk. (Medscape Oncology)

    • 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.

    Research news:

    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.

    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.

    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.

    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.

    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.

    Commentary: The Appendix A Culprit for BRCA1 -Associated Intraperitoneal Cancer? Comment on “Risk-Reducing Appendectomy and the Elimination of BRCA1 -Associated Intraperitoneal Cancer” (JAMA Surgery)

    • 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

    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.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 loss of expression in Uetrine Serous carcinoma

    Subject: BRCA mutations and endometrial cancer

    • Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.
    • 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.

    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.