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    •• Reply:

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

    •• Original research:

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

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

    •• Reply:

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

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    Original research:

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

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    • ASGE Expands BRCA Screening for Pancreatic Cancer.
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    • Inside Precision Medicine. Topics. Oncology. 2022 Jun 9.

    Guideline summary:

    ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations.

    Guideline:

    American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence.

    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
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    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

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    • Letter, Case report

    Case report:

    The Common Thread: A Case of Synchronous Lung Cancers and a Germline CHEK2 Mutation.

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    Letter, Reply:

    Reply to F. Keane et al.

    Original research:

    Exceptional Response to Olaparib and Pembrolizumab for Pancreatic Adenocarcinoma With Germline BRCA1 Mutation and High Tumor Mutation Burden: Case Report and Literature Review.

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    • [No author given]
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    Original research:

    Errors in delivery of cancer genetics services: implications for practice.

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    Commentary:

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

    • CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors.
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    Letter, Commentary:

    Homologous Recombination Deficiency in Pancreatic Cancer: Poly (ADP-ribose) Polymerase Inhibition, Checkpoint Inhibition, or a Combination of Both?

    Letter, Reply:

    Reply to F. Keane et al.

    • Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
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    • Review
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    • Genet Med. 2022 Jan;24(1):245-250. doi: 10.1016/j.gim.2021.08.013. Epub 2021 Nov 30.
    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
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    • Ray T.
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    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

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    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Federico A, Passariello L, Cioffi M, Molinari AM.
    • Med Oncol. 2021 Jan 23;38(2):13. doi: 10.1007/s12032-021-01454-5.
    • Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
    • Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
    • Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.
    • Case report
    • Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant.
    • Grosel TW, Karl M, Pilarski RT, Davidorf FH, Abdel-Rahman MH, Cebulla CM.
    • Fam Cancer. 2021 Jan 6. doi: 10.1007/s10689-020-00220-2. Epub ahead of print.
    • Case report
    • Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort.
    • Peretti U, Cavaliere A, Niger M, Tortora G, Di Marco MC, Rodriquenz MG, Centonze F, Rapposelli IG, Giordano G, De Vita F, Stuppia L, Avallone A, Ratti M, Paratore C, Forti LG, Orsi G, Valente MM, Gaule M, Macchini M, Carrera P, Calzavara S, Simbolo M, Melisi D, De Braud F, Salvatore L, De Lorenzo S, Chiarazzo C, Falconi M, Cascinu S, Milella M, Reni M.
    • ESMO Open. 2021 Jan 4;6(1):100032. doi: 10.1016/j.esmoop.2020.100032. Epub ahead of print.
    • Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers.
    • Glubb DM, Thompson DJ, Aben KKH, Alsulimani A, Amant F, Annibali D, Attia J, Barricarte A, Beckmann MW, Berchuck A, Bermisheva M, Bernardini MQ, Bischof K, Bjorge L, Bodelon C, Brand AH, Brenton JD, Brinton LA, Bruinsma F, Buchanan DD, Burghaus S, Butzow R, Cai H, Carney ME, Chanock SJ, Chen C, Chen XQ, Chen Z, Cook LS, Cunningham JM, De Vivo I, deFazio A, Doherty JA, Dörk T, du Bois A, Dunning AM, Dürst M, Edwards T, Edwards RP, Ekici AB, Ewing A, Fasching PA, Ferguson S, Flanagan JM, Fostira F, Fountzilas G, Friedenreich CM, Gao B, Gaudet MM, Gawelko J, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harris HR, Harter P, Hein A, Heitz F, Hildebrandt MAT, Hillemanns P, Høgdall E, Høgdall CK, Holliday EG, Huntsman DG, Huzarski T, Jakubowska A, Jensen A, Jones ME, Karlan BY, Karnezis A, Kelley JL, Khusnutdinova E, Killeen JL, Kjaer SK, Klapdor R, Köbel M, Konopka B, Konstantopoulou I, Kopperud RK, Koti M, Kraft P, Kupryjanczyk J, Lambrechts D, Larson MC, Le Marchand L, Lele S, Lester J, Li AJ, Liang D, Liebrich C, Lipworth L, Lissowska J, Lu L, Lu KH, Macciotta A, Mattiello A, May T, McAlpine JN, McGuire V, McNeish IA, Menon U, Modugno F, Moysich KB, Nevanlinna H, Odunsi K, Olsson H, Orsulic S, Osorio A, Palli D, Park-Simon TW, Pearce CL, Pejovic T, Permuth JB, Podgorska A, Ramus SJ, Rebbeck TR, Riggan MJ, Risch HA, Rothstein JH, Runnebaum IB, Scott RJ, Sellers TA, Senz J, Setiawan VW, Siddiqui N, Sieh W, Spiewankiewicz B, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Thompson PJ, Thomsen LCV, Titus L, Tone A, Tumino R, Turman C, Vanderstichele A, Edwards DV, Vergote I, Vierkant RA, Wang Z, Wang-Gohrke S, Webb PM; OPAL Study Group; AOCS Group, White E, Whittemore AS, Winham SJ, Wu X, Wu AH, Yannoukakos D, Spurdle AB, O'Mara TA.
    • Cancer Epidemiol Biomarkers Prev. 2021 Jan;30(1):217-228. doi: 10.1158/1055-9965.EPI-20-0739. Epub 2020 Nov 3.
    • A pathogenic germline BRCA2 variant in a patient with hypopharyngeal squamous cell carcinoma.
    • Correa T, Laux DE, Hoffman HT.
    • Clin Case Rep. 2020 Nov 25;9(1):429-432. doi: 10.1002/ccr3.3548. eCollection 2021 Jan.
    • Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
    • Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D.
    • Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.
    • Correlazioni tra carcinoma pancreatico e pregresse neoplasie [Correlations between pancreatic carcinoma and previous neoplasms.].
    • Gavazzi F, Giordano L, Nebbia M, Luberto A, Izzo A, Zerbi A.
    • Recenti Prog Med. 2021 Jan;112(1):81-88. Italian. doi: 10.1701/3525.35128.
    • [Article in Italian]
    • Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
    • Ishiyama Y, Shimbo M, Iizuka J, Deshpande G, Tanabe K, Hattori K.
    • PLoS One. 2020 Dec 22;15(12):e0244149. doi: 10.1371/journal.pone.0244149.
    • Novel BRCA2 c.8434_8435insTT (p. Gly2812Valfs*10) mutation in a family with multiple hematologic malignancies and solid tumors.
    • Yin F, Kosewski B, Baer MR.
    • Leuk Lymphoma. 2020 Dec 21:1-5. doi: 10.1080/10428194.2020.1861269. Epub ahead of print.
    • Case report
    • Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.
    • Marwitz T, Hüneburg R, Spier I, Lau JF, Kristiansen G, Lingohr P, Kalff JC, Aretz S, Nattermann J, Strassburg CP.
    • Cancers (Basel). 2020 Dec 11;12(12):E3726. doi: 10.3390/cancers12123726.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • [A Case of Lynch Syndrome with Seven Cancers in Five Organs].
    • Nakagawa T, Oda G, Kumaki Y, Wakana K, Oshima N, Nakamura R, Takahashi K, Yoshida M, Koubata H, Uetake H, Onishi I.
    • Gan To Kagaku Ryoho. 2020 Dec;47(13):1966-1968.
    • Case report, [Article in Japanese]
    • Outcomes of endoscopic ultrasound as a one-off pancreatic cancer screening tool for 122 high- and moderate-risk patients.
    • Efthymiou M, Chandran S, Zorron Cheng Tao Pu L, Collins A, Rajadurai A, Nikfarjam M, Vaughan R.
    • JGH Open. 2020 Oct 17 [eCollection 2020 Dec];4(6):1217-1223. doi: 10.1002/jgh3.12432.
    • FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
    • Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV.
    • Mol Genet Genomic Med. 2020 Dec;8(12):e1532. doi: 10.1002/mgg3.1532. Epub 2020 Oct 29.
    • A PALB2 Gene has Taken a Terrible Toll on my Family.
    • Apke M.
    • FORCE. Blog. 2020 Nov 20.
    • Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review.
    • Halpern N, Grinshpun A, Boursi B, Golan T, Margalit O, Aderka D, Friedman E, Laitman Y, Hubert A, Kadouri L, Hamburger T, Barnes-Kedar I, Levi Z, Ben-Aharon I, Brenner B, Goldberg Y, Peretz T, Shacham-Shmueli E.
    • Onco Targets Ther. 2020 Nov 13;13:11637-11644. doi: 10.2147/OTT.S276814.
    • Germline BRCA1 mutated esophageal squamous cell carcinoma.
    • Starr J, Ramnaraign B.
    • Rare Tumors. 2020 Nov 5;12:2036361320972218. doi: 10.1177/2036361320972218.
    • Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients.
    • Kwong A, Shin VY, Ho CYS, Au CH, Slavin TP, Weitzel JN, Chan TL, Ma ESK.
    • BMC Cancer. 2020 Nov 2;20(1):1053. doi: 10.1186/s12885-020-07476-y.
    • What 20 years of research has taught us about the TP53 p.R337H mutation.
    • Pinto EM, Zambetti GP.
    • Cancer. 2020 Nov 1;126(21):4678-4686. doi: 10.1002/cncr.33143. Epub 2020 Aug 17.
    • Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition.
    • Kumpula T, Tervasmäki A, Mantere T, Koivuluoma S, Huilaja L, Tasanen K, Winqvist R, de Voer RM, Pylkäs K.
    • Mol Genet Genomic Med. 2020 Nov;8(11):e1493. doi: 10.1002/mgg3.1493. Epub 2020 Sep 19.
    • Study: Inherited gene mutations found in pancreatic cancer families in Spain.
    • [No author given]
    • FORCE. XRAY. 2020 Oct 29.

    Original research:

    A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.

    • Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.
    • Yao K KA, Clifford J, Li S, LaDuca H, Hulick P, Gutierrez S, Black MH.
    • JNCI Cancer Spectr. 2020 Oct 26;4(6):pkaa094. doi: 10.1093/jncics/pkaa094.
    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

    Press: Many supposed breast cancer risk genes don’t raise risk, studies find. (The Philadelphia Inquirer)

    Blog post: My Gene Counsel Quoted in The Philadelphia Inquirer. (My Gene Counsel)

    Original research:

    Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

    • Tumor site discordance in mismatch repair deficiency in synchronous endometrial and ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Eiriksson L, 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.
    • Int J Gynecol Cancer. 2020 Oct 20:ijgc-2020-001927. doi: 10.1136/ijgc-2020-001927. Epub ahead of print.
    • Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
    • Stolarova L, Jelinkova S, Storchova R, Machackova E, Zemankova P, Vocka M, Kodet O, Kral J, Cerna M, Volkova Z, Janatova M, Soukupova J, Stranecky V, Dundr P, Foretova L, Macurek L, Kleiblova P, Kleibl Z.
    • Biomedicines. 2020 Oct 9;8(10):E404. doi: 10.3390/biomedicines8100404.
    • The established risk of prostate cancer comorbidity in BRCA1/2 mutation carriers: where is the clinically relevant hotspot for prostate cancer?
    • Matsumoto T, Shiota M.
    • Transl Androl Urol. 2020 Oct;9(5):2289-2291. doi: 10.21037/tau-20-866.

    Original research:

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.

    • Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
    • Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M.
    • J Clin Med. 2020 Sep 17;9(9):E3003. doi: 10.3390/jcm9093003.
    • Significance of E-cadherin Gene Mutations in Patients With Hereditary Diffuse Gastric Cancer Syndrome: A Systematic Review.
    • Goud HK, Mehkari Z, Mohammed L, Javed M, Althwanay A, Ahsan F, Oliveri F, Rutkofsky IH.
    • Cureus. 2020 Sep 12;12(9):e10406. doi: 10.7759/cureus.10406.
    • NCCN Updates Guidelines Advising Against Using Polygenic Risk Scores Outside of Clinical Trials.
    • [No author given]
    • GenomeWeb. Diagnostics. 2020 Sep 10.
    • Is CHEK2 a moderate-risk breast cancer gene or the younger sister of Li-Fraumeni?
    • De Silva DL, Winship I.
    • BMJ Case Rep. 2020 Sep 7;13(9):e236435. doi: 10.1136/bcr-2020-236435.
    • First report of a Mexican family with mutation in the CDH1 gene.
    • Martínez Valenzuela C, Castelán-Maldonado EE, Carvajal-Zarrabal O, Calderón-Garcidueñas AL.
    • Mol Genet Genomic Med. 2020 Sep 4:e1208. doi: 10.1002/mgg3.1208. Epub ahead of print.
    • Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
    • Xu Y, Li C, Zhang Y, Guo T, Zhu C, Xu Y, Liu F.
    • Front Oncol. 2020 Sep 2;10:1603. doi: 10.3389/fonc.2020.01603.
    • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
    • Chirita-Emandi A, Andreescu N, Popa C, Mihailescu A, Riza AL, Plesea R, Ioana M, Arghirescu S, Puiu M.
    • J Med Genet. 2020 Aug 25:jmedgenet-2020-107198. doi: 10.1136/jmedgenet-2020-107198. Epub ahead of print.
    • Case report
    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
    • Llach J, Moreno L, Sánchez A, Herrera-Pariente C, Ocaña T, Cuatrecasas M, Rivero-Sánchez L, Moreira R, Díaz M, Jung G, Pellisé M, Castells A, Balaguer F, Carballal S, Moreira L.
    • Cancers (Basel). 2020 Aug 23;12(9):2386. doi: 10.3390/cancers12092386.
    • Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity.
    • Smith PS, West H, Whitworth J, Castle B, Sansbury FH, Warren AY, Woodward ER, Tischkowitz M, Maher ER.
    • Genes Chromosomes Cancer. 2020 Aug 23. doi: 10.1002/gcc.22893. Epub ahead of print.
    • Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report.
    • Silva PGB, de Sant'ana RO, Picanço-Albuquerque CG, Silva-Fernandes IJL, Bezerra MJB, Luciano MCDS, Lima MVA.
    • Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Aug 21:S2212-4403(20)31166-4. doi: 10.1016/j.oooo.2020.08.017. Epub ahead of print.
    • Case report
    • Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
    • Xu Y, Huang Z, Li C, Zhu C, Zhang Y, Guo T, Liu F, Xu Y.
    • Front Genet. 2020 Aug 19;11:991. doi: 10.3389/fgene.2020.00991.
    • Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.
    • Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, 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.
    • Cancer. 2020 Aug 18. doi: 10.1002/cncr.33144. Epub ahead of print.
    • A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
    • Gao F, Pan X, Dodd-Eaton EB, Recio CV, Montierth MD, Bojadzieva J, Mai PL, Zelley K, Johnson VE, Braun D, Nichols KE, Garber JE, Savage SA, Strong LC, Wang W.
    • Genome Res. 2020 Aug 18. doi: 10.1101/gr.249599.119. Epub ahead of print.
    • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
    • Schaid DJ, McDonnell SK, FitzGerald LM, DeRycke L, Fogarty Z, Giles GG, MacInnis RJ, Southey MC, Nguyen-Dumont T, Cancel-Tassin G, Cussenot O, Whittemore AS, Sieh W, Ioannidis NM, Hsieh CL, Stanford JL, Schleutker J, Cropp CD, Carpten J, Hoegel J, Eeles R, Kote-Jarai Z, Ackerman MJ, Klein CJ, Mandal D, Cooney KA, Bailey-Wilson JE, Helfand B, Catalona WJ, Wiklund F, Riska S, Bahetti S, Larson MC, Cannon Albright L, Teerlink C, Xu J, Isaacs W, Ostrander EA, Thibodeau SN.
    • Eur Urol. 2020 Aug 13:S0302-2838(20)30614-X. doi: 10.1016/j.eururo.2020.07.038. Epub ahead of print.
    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
    • Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
    • Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.
    • Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
    • Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman A, Kessler L, Speare V, Golemis EA, Hall MJ, Daly MB, Arora S.
    • Sci Rep. 2020 Aug 11;10(1):13518. doi: 10.1038/s41598-020-70449-5.
    • Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.
    • Macklin-Mantia SK, Hines SL, Kasi PM.
    • Hered Cancer Clin Pract. 2020 Aug 10;18:17. doi: 10.1186/s13053-020-00148-9.
    • Patterns of cancer family history and genetic counseling eligibility among African Americans with breast, prostate, lung, and colorectal cancers: A Detroit Research on Cancer Survivors cohort study.
    • Purrington KS, Schwartz AG, Ruterbusch JJ, Manning MA, Nair M, Wenzlaff AS, Pandolfi SS, Simon MS, Beebe-Dimmer J.
    • Cancer. 2020 Aug 4. doi: 10.1002/cncr.33126. Epub ahead of print.
    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
    • Velázquez C, De Leeneer K, Esteban-Cardeñosa EM, Avila Cobos F, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Claes KB, Durán M, Infante M.
    • Cancers (Basel). 2020 Aug 3;12(8):E2151. doi: 10.3390/cancers12082151.
    • BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study.
    • Kitson SJ, Bafligil C, Ryan NAJ, Lalloo F, Woodward ER, Clayton RD, Edmondson RJ, Bolton J, Crosbie EJ, Evans GD.
    • Eur J Cancer. 2020 Jul 19;136:169-175. doi: 10.1016/j.ejca.2020.05.030. Epub ahead of print.
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
    • Silvestri V, Leslie G, Barnes DR; and the CIMBA Group, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldés T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalò L, Foretova L, Fostira F, Géczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow Yuen Ye J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamariña M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L.
    • JAMA Oncol. 2020 Jul 2. doi: 10.1001/jamaoncol.2020.2134. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Lynch Syndrome Patient Has Ovaries, Uterus Removed at Age 22.
    • Ray T.
    • Precision Oncology News. 2020 Jul 1.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • Small Steps in Pancreatic Cancer – Episode 2: Relatives at Risk.
    • McAllister F, Maitra A, Burton M, McGuire M..
    • Medscape. 2020 Jun 25.
    • Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.
    • Liang Z, Hu W, Li S, Wei Z, Zhu Z.
    • Med Sci Monit. 2020 Jun 24;26:e923926. doi: 10.12659/MSM.923926.
    • Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
    • Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D.
    • J Med Genet. 2020 Jun 23:jmedgenet-2020-106972. doi: 10.1136/jmedgenet-2020-106972. Epub ahead of print.
    • Case report
    • Multiple primary tumors: a case report and review of the literature.
    • Zhao Z, Sun K, Yan T, Wei R, Guo W.
    • BMC Musculoskelet Disord. 2020 Jun 22;21(1):394. doi: 10.1186/s12891-020-03426-8.
    • CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
    • Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B.
    • Int J Environ Res Public Health. 2020 Jun 18;17(12):E4397. doi: 10.3390/ijerph17124397.
    • Secondary Angiosarcoma With C-MYC Amplification Following Prophylactic Bilateral Mastectomy and Autologous Breast Reconstruction: Report of a Case and Review of the Literature.
    • Webb C, Partain N, Koduru P, Hwang H, Sarode VR.
    • Int J Surg Pathol. 2020 Jun 18:1066896920930100. doi: 10.1177/1066896920930100. Epub ahead of print.
    • Case report
    • Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
    • Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B.
    • Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
    • Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.
    • Xu Y, Li C, Wang Z, Liu F, Xu Y.
    • Mol Genet Genomic Med. 2020 Jun 16:e1359. doi: 10.1002/mgg3.1359. Epub ahead of print.
    • Phase II clinical trial of gemcitabine plus oxaliplatin in patients with metastatic pancreatic adenocarcinoma with a family history of pancreatic/breast/ovarian/prostate cancer or personal history of breast/ovarian/prostate cancer (FABRIC study).
    • Okano N, Morizane C, Nomura S, Takahashi H, Tsumura H, Satake H, Mizuno N, Tsuji K, Shioji K, Asagi A, Yasui K, Kitagawa S, Kashiwada T, Ishiguro A, Kanai M, Ueno M, Ogura T, Shimizu S, Tobimatsu K, Motoya M, Nakashima K, Ikeda M, Okusaka T, Furuse J.
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    Press: Cancer Experts Develop Precision Medicine-Based Genetic Testing Framework for Prostate Cancer. (GenomeWeb)

    Press: Consider Genetic Testing in All Metastatic Prostate Cancers. (MedPage Today)

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    • Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
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    • J Clin Oncol. 2020 Jun 4:JCO1902760. doi: 10.1200/JCO.19.02760. Epub ahead of print.

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

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    • Review
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    Research news: Study: Inherited gene mutations found in pancreatic cancer families in Spain. (FORCE. XRAY)

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    Editorial:

    How Do We Respond to Men with BRCA Mutations when They Ask About Prostate Cancer?

    Comment:

    Re: Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.

    Editorial:

    The established risk of prostate cancer comorbidity in BRCA1/2 mutation carriers: where is the clinically relevant hotspot for prostate cancer?

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    Commentary:

    New name for breast-cancer syndrome could help to save lives.

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    Original research:

    Cancer incidence in familial Mediterranean fever patients: a retrospective analysis from central Anatolia.

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    • Commentary
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    Commentary:

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

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
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    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Editorial:

    Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.

    Press: Genetic Testing in Relatives of Pancreatic Cancer Patients? (Medscape Oncology)

    Press: Six Germline Mutations Uncovered of Increased Pancreatic Cancer Risk. (Clinical Omics)

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    Commentary:

    Germline Testing for Individuals With Pancreatic Cancer: The Benefits and Challenges to Casting a Wider Net.

    Commentary:

    Your Genes: Getting the Best Fit.

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    Commentary:

    Genetic Testing for Prostate Cancer in Clinical Practice.

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    Editorial:

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

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

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    • News
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    Comment:

    Inherited susceptibility to pancreatic cancer in the era of next-generation sequencing.

    Introductory Journal Article

    Covering the Cover

    CME Activities: Exam 2: Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer (Gastroenterology)

    • Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer.
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    • Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.
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    • Taiwan J Obstet Gynecol. 2015 Feb;54(1):24-8. doi: 10.1016/j.tjog.2014.11.003.
    • Serous tubal intraepithelial carcinoma: an incidental finding at the time of prophylactic bilateral salpingo-oophorectomy.
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    • Review

    Research news: Fanconi Anemia: Genetic Counseling Research (Perspectives in Genetic Counseling)

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