Phenotypes of Cancers Other than Breast or Ovarian Cancer with BRCA1/2 Mutations
~ Genetics of Breast & Ovarian Cancer

For other than Pancreatic Cancer, Prostate Cancer, and Gastric Cancer (and Breast and Ovarian Cancer). For those, see their separate LitLists.

List was last updated on Dec 5, 2019 @ 4:06 am.

    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
    • Carlo MI, Ravichandran V, Srinavasan P, Bandlamudi C, Kemel Y, Ceyhan-Birsoy O, Mukherjee S, Mandelker D, Chaim J, Knezevic A, Rana S, Fnu Z, Breen K, Arnold AG, Khurram A, Tkachuk K, Cipolla CK, Regazzi A, Hakimi AA, Al-Ahmadie H, Dalbagni G, Cadoo KA, Walsh MF, Teo MY, Funt SA, Coleman JA, Bochner BH, Iyer G, Solit DB, Stadler ZK, Zhang L, Rosenberg JE, Taylor BS, Robson ME, Berger MF, Vijai J, Bajorin DF, Offit K.
    • J Clin Oncol. 2019 Dec 3:JCO1901395. doi: 10.1200/JCO.19.01395. [Epub ahead of print]
    • Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.
    • Wang L, Wang H, Wang T, Liu J, Chen W, Wang Y, Chen C, Zhu H, Dai P.
    • Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):1101-1112. doi: 10.1080/21691401.2019.1575846.
    • Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
    • Wilson CL, Wang Z, Liu Q, Ehrhardt MJ, Mostafavi R, Easton J, Mulder H, Hedges DJ, Wang S, Rusch M, Edmonson M, Levy S, Lanctot JQ, Currie K, Lear M, Patel A, Sapkota Y, Brooke RJ, Moon W, Chang TC, Chen W, Kesserwan CA, Wu G, Nichols KE, Hudson MM, Zhang J, Robison LL, Yasui Y.
    • Pediatr Blood Cancer. 2019 Nov 17:e28047. doi: 10.1002/pbc.28047. [Epub ahead of print]
    • Spectrum of Pathogenic Germline Mutations in Chinese Lung Cancer Patients through Next-Generation Sequencing.
    • Tian P, Cheng X, Zhao Z, Zhang Y, Bao C, Wang Y, Cai S, Ma G, Huang Y.
    • Pathol Oncol Res. 2019 Nov 12. doi: 10.1007/s12253-019-00771-5. [Epub ahead of print]
    • Potential genetic modifiers for somatic EGFR mutation in lung cancer: a meta-analysis and literature review.
    • Cheng YI, Gan YC, Liu D, Davies MPA, Li WM, Field JK.
    • BMC Cancer. 2019 Nov 8;19(1):1068. doi: 10.1186/s12885-019-6317-6.
    • Apatinib as Salvage Treatment in BRCA2-Mutated Advanced Lung Adenocarcinoma.
    • Zeng DX, Huang JA, Jiang JH.
    • Am J Ther. 2019 Nov/Dec;26(6):e747-e748. doi: 10.1097/MJT.0000000000000905.
    • Case report
    • Women With Synchronous or Metachronous Lung and Ovarian Cancer: A Multi-Institutional Report.
    • Mariniello A, Ghisoni E, Righi L, Catino A, Chiari R, Del Conte A, Barbieri F, Cecere F, Gelibter A, Giajlevra M, Parra HS, Zichi C, DI Maio M, Valabrega G, Novello S.
    • In Vivo. 2019 Nov-Dec;33(6):2021-2026. doi: 10.21873/invivo.11699.
    • Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.
    • Valiakhmetova A, Gorelyshev S, Konovalov A, Trunin Y, Savateev A, Kram DE, Severson E, Hemmerich A, Edgerly C, Duncan D, Britt N, Huang RSP, Elvin J, Miller V, Ross JS, Gay L, McCorkle J, Rankin A, Erlich RL, Chudnovsky Y, Ramkissoon SH.
    • Oncologist. 2019 Oct 16. pii: theoncologist.2019-0603. doi: 10.1634/theoncologist.2019-0603. [Epub ahead of print]
    • Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
    • Terashima T, Umemoto K, Takahashi H, Hosoi H, Takai E, Kondo S, Sakamoto Y, Mitsunaga S, Ohno I, Hashimoto Y, Sasaki M, Ikeda M, Shimada K, Kaneko S, Yachida S, Sugano K, Okusaka T, Morizane C.
    • Oncotarget. 2019 Oct 15;10(57):5949-5957. doi: 10.18632/oncotarget.27224. eCollection 2019 Oct 15.
    • Melanoma predisposition - A limited role for germline BRCA1 and BRCA2 variants.
    • Adams DJ, Bishop DT, Robles-Espinoza CD.
    • Pigment Cell Melanoma Res. 2019 Oct 14. doi: 10.1111/pcmr.12833. [Epub ahead of print]
    • Review, Commentary
    • Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
    • Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL.
    • Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613.
    • Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
    • Li C, Liu T, Tavtigian SV, Boucher K, Kohlmann W, Cannon-Albright L, Grossman D.
    • Melanoma Res. 2019 Sep 24. doi: 10.1097/CMR.0000000000000645. [Epub ahead of print]
    • Homologous recombination in lung cancer, germline and somatic mutations, clinical and phenotype characterization.
    • Kadouri L, Rottenberg Y, Zick A, Hamburger T, Lipson D, Peretz T, Nechushtan H.
    • Lung Cancer. 2019 Sep 12;137:48-51. doi: 10.1016/j.lungcan.2019.09.008. [Epub ahead of print]
    • Germline BRCA-associated Endometrial Carcinoma is a Distinct Clinicopathologic Entity.
    • de Jonge MM, Ritterhouse LL, de Kroon CD, Vreeswijk MPG, Segal JP, Puranik R, Study H, Hollema H, Rookus MA, van Asperen CJ, Van Leeuwen FE, Smit VTHBM, Howitt BE, Bosse T.
    • Clin Cancer Res. 2019 Sep 6. pii: clincanres.0848.2019. doi: 10.1158/1078-0432.CCR-19-0848. [Epub ahead of print]
    • Precision medicine for metastatic colorectal cancer: an evolving era.
    • Guler I, Askan G, Klostergaard J, Sahin IH.
    • Expert Rev Gastroenterol Hepatol. 2019 Aug 31. doi: 10.1080/17474124.2019.1663174. [Epub ahead of print]
    • Review
    • RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
    • Yang H, Shi L, Wang Y, Duan G, Wang Y.
    • J Natl Cancer Inst. 2019 Aug 19. pii: djz162. doi: 10.1093/jnci/djz162. [Epub ahead of print]
    • Letter, Commentary

    Original research:

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

    Letter, Reply:

    Response to Yang, Shi, Wang, et al.

    • BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
    • Ko JM, Ning L, Zhao XK, Chai AW, Lei LC, Choi SSA, Tao L, Law S, Kwong A, Lee NP, Chan KT, Lo A, Song X, Chen PN, Chang YL, Wang LD, Lung ML.
    • Int J Cancer. 2019 Aug 9. doi: 10.1002/ijc.32619. [Epub ahead of print]
    • Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.
    • Zhunussova G, Afonin G, Abdikerim S, Jumanov A, Perfilyeva A, Kaidarova D, Djansugurova L.
    • Front Oncol. 2019 Aug 2;9:673. doi: 10.3389/fonc.2019.00673. eCollection 2019.
    • Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.
    • Hu X, Yang D, Li Y, Li L, Wang Y, Chen P, Xu S, Pu X, Zhu W, Deng P, Ye J, Zhang H, Lizaso A, Liu H, Mao X, Huang H, Chu Q, Hu C.
    • Cancer Biol Med. 2019 Aug;16(3):556-564. doi: 10.20892/j.issn.2095-3941.2018.0506.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma.
    • Wang Z, Wilson CL, Armstrong GT, Hudson MM, Zhang J, Nichols KE, Robison LL.
    • JAMA Oncol. 2019 Jul 25. doi: 10.1001/jamaoncol.2019.2203. [Epub ahead of print]

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

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

    • Familial lobular breast cancer: Is testing for germline CDH1 mutations necessary?
    • Corso G, Sacchini V, Pravettoni G, Veronesi P, Bonanni B.
    • Eur J Surg Oncol. 2019 Jul 19. pii: S0748-7983(19)30578-5. doi: 10.1016/j.ejso.2019.07.020. [Epub ahead of print]
    • Immunogenomics of Metastatic Clear-Cell Renal Cell Carcinoma: Remarkable Response to Nivolumab in a Patient With a Pathogenic Germ Line BRCA1 Mutation.
    • Beulque Y, Deleu AL, Punie K, De Wever L, Baldewijns M, Caruso S, Couchy G, Zucman-Rossi J, Beuselinck B.
    • Clin Genitourin Cancer. 2019 Jul 11. pii: S1558-7673(19)30202-2. doi: 10.1016/j.clgc.2019.06.013. [Epub ahead of print]
    • Case report
    • Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
    • Hińcza K, Kowalik A, Kowalska A.
    • Genes (Basel). 2019 Jun 26;10(7). pii: E482. doi: 10.3390/genes10070482.
    • Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germline BRCA2 mutation.
    • Snow A, Ricker C, In GK.
    • BMJ Case Rep. 2019 Jun 20;12(6). pii: e227625. doi: 10.1136/bcr-2018-227625.
    • Case report
    • Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.
    • Ow SGW, Tan KT, Yang H, Yap HL, Sapari NSB, Ong , Soong , Lee SC.
    • Clin Colorectal Cancer. 2019 Jun 7. pii: S1533-0028(19)30117-3. doi: 10.1016/j.clcc.2019.05.007. [Epub ahead of print]
    • Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
    • Liyanage UE, Law MH, Han X, An J, Ong JS, Gharahkhani P, Gordon S, Neale RE, Olsen CM, MacGregor S, Whiteman DC.
    • Hum Mol Genet. 2019 Jun 7. pii: ddz121. doi: 10.1093/hmg/ddz121. [Epub ahead of print]
    • Endometrial cancers in BRCA1 or BRCA2 germline mutations carriers.
    • Smith E, Paula ADC, Mandelker D, Weigelt B.
    • Gynecol Oncol. 2019 Jun;153(3):e8-e9. doi: 10.1016/j.ygyno.2019.03.125.
    • Conference abstract
    • Concurrent hysterectomy at the tine of risk-reducing surgery for patients with BRCA mutations.
    • Gordhandas S, Ruiz MP, Talukdar N, Holcomb KM, Freya MK, Chapman-Davis E, Kahn RM.
    • Gynecol Oncol. 2019 Jun;153(3):e12-e13. doi: 10.1016/j.ygyno.2019.03.134.
    • Conference abstract
    • Alterations in DNA damage repair genes in primary liver cancer.
    • Lin J, Shi J, Guo H, Yang X, Jiang Y, Long J, Bai Y, Wang D, Yang X, Wan X, Zhang L, Pan J, Hu K, Guan M, Huo L, Sang X, Wang K, Zhao H.
    • Clin Cancer Res. 2019 May 8. pii: clincanres.0127.2019. doi: 10.1158/1078-0432.CCR-19-0127. [Epub ahead of print]
    • BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
    • Ali M, Delozier CD, Chaudhary U.
    • BMC Med Genet. 2019 May 7;20(1):75. doi: 10.1186/s12881-019-0812-0.
    • Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
    • Tian W, Bi R, Ren Y, He H, Shi S, Shan B, Yang W, Wang Q, Wang H.
    • Int J Cancer. 2019 May 4. doi: 10.1002/ijc.32389. [Epub ahead of print]
    • Mucinous Tubular and Spindle-Cell Carcinoma of the Kidney: Clinical Features, Genomic Profiles, and Treatment Outcomes.
    • Ged Y, Chen YB, Knezevic A, Donoghue MTA, Carlo MI, Lee CH, Feldman DR, Patil S, Hakimi AA, Russo P, Voss MH, Motzer RJ.
    • Clin Genitourin Cancer. 2019 May 2. pii: S1558-7673(19)30132-6. doi: 10.1016/j.clgc.2019.04.006. [Epub ahead of print]
    • Case report
    • Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes.
    • Wong W, Lowery MA, Berger MF, Kemel Y, Taylor B, Zehir A, Srinivasan P, Bandlamudi C, Chou J, Capanu M, Varghese A, Yu KH, Iacobuzio-Donahue CA, Shia J, Klimstra DS, Jarnagin WR, Stadler ZK, O'Reilly EM.
    • Cancer. 2019 May 1;125(9):1441-1448. doi: 10.1002/cncr.31951. Epub 2019 Jan 8.
    • Carcinoid tumor of lung and BRCA mutation: a case report.
    • Shariff MZ, Curras-Martin D, Campbell N, Gupta V, Mikhail JD, Levitt MJ, Hossain MA.
    • J Med Case Rep. 2019 May 1;13(1):132. doi: 10.1186/s13256-019-2052-5.
    • Analysis of DNA Damage Response Gene Alterations and Tumor Mutational Burden Across 17,486 Tubular Gastrointestinal Carcinomas: Implications for Therapy.
    • Parikh AR, He Y, Hong TS, Corcoran RB, Clark JW, Ryan DP, Zou L, Ting DT, Catenacci DV, Chao J, Fakih M, Klempner SJ, Ross JS, Frampton GM, Miller VA, Ali SM, Schrock AB.
    • Oncologist. 2019 Apr 30. pii: theoncologist.2019-0034. doi: 10.1634/theoncologist.2019-0034. [Epub ahead of print]
    • Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
    • Kryklyva V, Haj Mohammad N, Morsink FHM, Ligtenberg MJL, Offerhaus GJA, Nagtegaal ID, de Leng WWJ, Brosens LAA.
    • Cancer Biol Ther. 2019 Apr 19:1-7. doi: 10.1080/15384047.2019.1595274. [Epub ahead of print]
    • Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
    • Yost S, Ruark E, Alexandrov LB, Rahman N.
    • JNCI Cancer Spectr. 2019 Apr 19;3(2):pkz028. doi: 10.1093/jncics/pkz028. eCollection 2019 Jun.
    • Frequency of hematologic and solid malignancies in the family history of 50 patients with acute myeloid leukemia - a single center analysis.
    • Sandner AS, Weggel R, Mehraein Y, Schneider S, Hiddemann W, Spiekermann K.
    • PLoS One. 2019 Apr 18;14(4):e0215453. doi: 10.1371/journal.pone.0215453. eCollection 2019.
    • Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.
    • Yan T, Cui H, Zhou Y, Yang B, Kong P, Zhang Y, Liu Y, Wang B, Cheng Y, Li J, Guo S, Xu E, Liu H, Cheng C, Zhang L, Chen L, Zhuang X, Qian Y, Yang J, Ma Y, Li H, Wang F, Liu J, Liu X, Su D, Wang Y, Sun R, Guo S, Li Y, Cheng X, Liu Z, Zhan Q, Cui Y.
    • Nat Commun. 2019 Apr 11;10(1):1670. doi: 10.1038/s41467-019-09255-1.
    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
    • Bochtler T, Endris V, Leichsenring J, Reiling A, Neumann O, Volckmar AL, Kirchner M, Allgäuer M, Schirmacher P, Krämer A, Stenzinger A.
    • Int J Cancer. 2019 Apr 9. doi: 10.1002/ijc.32316. [Epub ahead of print]
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
    • Gross AM, Turner J, Kirkorian AY, Okoye GA, Luca DC, Bornhorst M, Jacobs SS, Williams KM, Schore RJ.
    • J Pediatr Hematol Oncol. 2019 Apr 8. doi: 10.1097/MPH.0000000000001481. [Epub ahead of print]
    • Case report
    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
    • Seto T, Pujare D, Song MN, Lee J, Huber R, Sam D, Pan M.
    • J Oncol Pract. 2019 Apr 2:JOP1800708. doi: 10.1200/JOP.18.00708. [Epub ahead of print]
    • Case report
    • The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement.
    • Dogan S, Ng CKY, Xu B, Kumar R, Wang L, Edelweiss M, Scott SN, Zehir A, Drilon A, Morris LGT, Lee NY, Antonescu CR, Ho AL, Katabi N, Berger MF, Reis-Filho JS.
    • Hum Pathol. 2019 Apr 1. pii: S0046-8177(19)30049-8. doi: 10.1016/j.humpath.2019.03.004. [Epub ahead of print]
    • [Article in Spanish]
    • Clinicopathologic and Molecular Features of Metastatic Follicular Thyroid Carcinoma in Patients Presenting With a Thyroid Nodule Versus a Distant Metastasis.
    • Cracolici V, Kadri S, Ritterhouse LL, Segal JP, Wanjari P, Cipriani NA.
    • Am J Surg Pathol. 2019 Apr;43(4):514-522. doi: 10.1097/PAS.0000000000001208.
    • Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.
    • You YN, Borras E, Chang K, Price BA, Mork M, Chang GJ, Rodriguez-Bigas MA, Bednarski BK, Meric-Bernstam F, Vilar E.
    • Dis Colon Rectum. 2019 Apr;62(4):429-437. doi: 10.1097/DCR.0000000000001322.
    • Radiogenomics of rectal adenocarcinoma in the era of precision medicine: A pilot study of associations between qualitative and quantitative MRI imaging features and genetic mutations.
    • Horvat N, Veeraraghavan H, Pelossof RA, Fernandes MC, Arora A, Khan M, Marco M, Cheng CT, Gonen M, Golia Pernicka JS, Gollub MJ, Garcia-Aguillar J, Petkovska I.
    • Eur J Radiol. 2019 Apr;113:174-181. doi: 10.1016/j.ejrad.2019.02.022. Epub 2019 Feb 18.
    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.
    • Letter, Case report
    • Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.
    • Hurst Z, Liyanarachchi S, He H, Brock P, Sipos J, Nabhan F, Kebebew E, Green P, Cote GJ, Sherman S, Walker CJ, Chang YS, Xue S, Hollingsworth B, Li W, Genutis L, Menq E, de la Chapelle A, Jhiang SM.
    • Thyroid. 2019 Apr;29(4):530-539. doi: 10.1089/thy.2018.0687. Epub 2019 Feb 13.
    • Lymph node metastasis in oral cancer is strongly associated with chromosomal instability and DNA repair defects.
    • Biswas NK, Das C, Das S, Maitra A, Nair S, Gupta T, D'Cruz AK, Sarin R, Majumder PP.
    • Int J Cancer. 2019 Mar 28. doi: 10.1002/ijc.32305. [Epub ahead of print]
    • Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.
    • Villa R, Azzollini J, Peissel B, Manoukian S.
    • Gynecol Oncol Rep. 2019 Mar 17;28:68-70. doi: 10.1016/j.gore.2019.03.010. eCollection 2019 May.
    • Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.
    • Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, Laurie S, Beltran S, Consortium E, Castells A, Bujanda L, Cubiella J, Balaguer F, Castellví-Bel S.
    • Cancers (Basel). 2019 Mar 13;11(3). pii: E362. doi: 10.3390/cancers11030362.
    • Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.
    • Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer.
    • Cancer. 2019 Mar 1;125(5):698-703. doi: 10.1002/cncr.31842. Epub 2018 Nov 29.
    • Rare, Pathogenic Germline Variants in Fanconi Anemia Genes Increase Risk for Squamous Lung Cancer.
    • Esai Selvan M, Klein RJ, Gümüş ZH.
    • Clin Cancer Res. 2019 Mar 1;25(5):1517-1525. doi: 10.1158/1078-0432.CCR-18-2660. Epub 2018 Nov 13.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • Gallbladder Adenocarcinoma as the First Manifestation of Germline BRCA1 Mutation.
    • Al-Taee A, Gill A, Mahon S, Lai J, Jallad B.
    • J Gastrointest Cancer. 2019 Mar;50(1):147-150. doi: 10.1007/s12029-017-9995-9.
    • Case Report
    • Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors.
    • Puccini A, Lenz HJ, Marshall JL, Arguello D, Raghavan D, Korn WM, Weinberg BA, Poorman K, Heeke AL, Philip PA, Shields AF, Goldberg RM, Salem ME.
    • Oncologist. 2019 Mar;24(3):319-326. doi: 10.1634/theoncologist.2018-0117. Epub 2018 Jul 17.
    • Distinct Histologic, Immunohistochemical and Clinical Features Associated With Serous Endometrial Intraepithelial Carcinoma Involving Polyps.
    • Trinh VQ, Pelletier MP, Echelard P, Warkus T, Sauthier P, Gougeon F, Mès-Masson AM, Provencher DM, Rahimi K.
    • Int J Gynecol Pathol. 2019 Feb 14. doi: 10.1097/PGP.0000000000000591. [Epub ahead of print]
    • Alterations in ERBB2 and BRCA and microsatellite instability as new personalized treatment options in small bowel carcinoma.
    • Quaas A, Heydt C, Waldschmidt D, Alakus H, Zander T, Goeser T, Kasper P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Buettner R, Merkelbach-Bruse S.
    • BMC Gastroenterol. 2019 Feb 4;19(1):21. doi: 10.1186/s12876-019-0942-z.
    • RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
    • Katona BW, Stadler ZK, Robson ME, Domchek SM.
    • J Natl Cancer Inst. 2019 Feb 4. doi: 10.1093/jnci/djz012. [Epub ahead of print]

    Original research:

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

    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • BRCA1 promoter methylation is linked to defective homologous recombination repair and elevated miR-155 to disrupt myeloid differentiation in myeloid malignancies.
    • Poh W, Dilley RL, Moliterno A, Maciejewski JP, Pratz KW, McDevitt MA, Herman JG.
    • Clin Cancer Res. 2019 Jan 28. pii: clincanres.0179.2018. doi: 10.1158/1078-0432.CCR-18-0179. [Epub ahead of print]
    • Shared heritability and functional enrichment across six solid cancers.
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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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    • 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?

    • Clinicopathologic features and BRCA mutations in primary fallopian tube cancer in Japanese women.
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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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    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
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    • Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.
    • Complete Remission Following Pembrolizumab in a Woman with Mismatch Repair-Deficient Endometrial Cancer and a Germline BRCA1 Mutation.
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    • 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.
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    • 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.
    • 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.
    • Stoffel EM, Koeppe E, Everett J, Ulintz P, Kiel M, Osborne J, Williams L, Hanson K, Gruber SB, Rozek LS.
    • 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.
    • 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


    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.)


    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.


    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.


    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


    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.


    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


    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


    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.


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


    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?


    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?


    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.