Other Cancer Types, Phenotypes ~ Family History
~ Genetics of Breast & Ovarian Cancer

Any papers with significant coverage of HBOC family histories with cancers beyond breast and ovarian cancer, or with non-cancer phenotypes/conditions. Also includes unusual subtypes of breast and ovarian cancer, individual personal histories of multiple primary cancers, and case reports of breast or ovarian cancer concurrent with other syndromes—with or without suspected links.

List was last updated on Oct 10, 2019 @ 2:17 pm.


    • 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.
    • Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.
    • Greenberg S, Buys SS, Edwards SL, Espinel W, Fraser A, Gammon A, Hafen B, Herget KA, Kohlmann W, Roundy C, Sweeney C.
    • Cancer Med. 2019 Sep 18. doi: 10.1002/cam4.2534. [Epub ahead of print]
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China.
    • Li W, Li L, Wu M.
    • Hered Cancer Clin Pract. 2019 Sep 10;17:26. doi: 10.1186/s13053-019-0126-4. eCollection 2019.
    • Family history is significantly associated with prostate cancer and its early onset in Chinese population.
    • Xu Y, Huang D, Wu Y, Ye D, Zhang N, Gao Y, Xu D, Na R, Xu J.
    • Prostate. 2019 Sep 9. doi: 10.1002/pros.23900. [Epub ahead of print]
    • Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.
    • Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.
    • Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.
    • Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.
    • Nyberg T, Frost D, Barrowdale D, Evans DG, Bancroft E, Adlard J, Ahmed M, Barwell J, Brady AF, Brewer C, Cook J, Davidson R, Donaldson A, Eason J, Gregory H, Henderson A, Izatt L, Kennedy MJ, Miller C, Morrison PJ, Murray A, Ong KR, Porteous M, Pottinger C, Rogers MT, Side L, Snape K, Walker L, Tischkowitz M, Eeles R, Easton DF, Antoniou AC.
    • Eur Urol. 2019 Sep 5. pii: S0302-2838(19)30675-X. doi: 10.1016/j.eururo.2019.08.025. [Epub ahead of print]
    • Cancer: more genetic BRCA testing for men.
    • Marabelli M, Calvello M, Bonanni B.
    • Nature. 2019 Sep;573(7774):346. doi: 10.1038/d41586-019-02775-2.

    Commentary:

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

    • A germline alteration of ERBB2 increases the risk of breast cancer in Chinese Han women with a familial history of malignant tumors.
    • Ju Y, Wang L, Ta S, Shu R, Yang S, Gao X, Song H, Liu L.
    • Oncol Lett. 2019 Sep;18(3):2885-2890. doi: 10.3892/ol.2019.10646. Epub 2019 Jul 22.
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • 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]
    • Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria.
    • Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X.
    • J Med Genet. 2019 Jul 11. pii: jmedgenet-2019-105991. doi: 10.1136/jmedgenet-2019-105991. [Epub ahead of print]
    • Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men.
    • Chandrasekar T, Gross L, Gomella LG, Hegarty SE, Leong JY, Giri VN.
    • Eur Urol Oncol. 2019 Jul 2. pii: S2588-9311(19)30085-9. doi: 10.1016/j.euo.2019.06.010. [Epub ahead of print]
    • 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
    • Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    • Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.
    • J Natl Cancer Inst. 2019 Jun 19. pii: djz124. doi: 10.1093/jnci/djz124. [Epub ahead of print]
    • Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation.
    • Sarkadi B, Baghy K, Sápi Z, Nyirő G, Likó I, Patócs A.
    • Front Genet. 2019 Jun 11;10:544. doi: 10.3389/fgene.2019.00544. eCollection 2019.
    • 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]
    • A closer look at familial Mediterranean fever cases in a large breast cancer dataset.
    • Altundag K.
    • Rheumatol Int. 2019 Jun 5. doi: 10.1007/s00296-019-04340-6. [Epub ahead of print]

    Original research:

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

    • Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz-Jeghers syndrome.
    • Lipsa A, Kowtal P, Sarin R.
    • Hum Mol Genet. 2019 Jun 1;28(11):1885-1893. doi: 10.1093/hmg/ddz027.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
    • Lo W, Zhu B, Sabesan A, Wu HH, Powers A, Sorber RA, Ravichandran S, Chen I, McDuffie LA, Quadri HS, Beane JD, Calzone K, Miettinen MM, Hewitt SM, Koh C, Heller T, Wacholder S, Rudloff U.
    • J Med Genet. 2019 Jun;56(6):370-379. doi: 10.1136/jmedgenet-2018-105361. Epub 2019 Feb 11.
    • Talking Genes in Breast and Pancreatic Malignancies.
    • Barbara M, Tsen A, Tenner L, Rosenkranz L.
    • Mater Sociomed. 2019 Jun;31(2):146-149. doi: 10.5455/msm.2019.31.146-149.
    • Breast cancer histologic subtypes show excess familial clustering.
    • Henry NL, Cannon-Albright LA.
    • Cancer. 2019 May 23. doi: 10.1002/cncr.32198. [Epub ahead of print]
    • Familial heterozygous hypobetalipoproteinemia and breast cancer risk: A systematic review and suggestions for further research.
    • Lima Pessoa E, Costa Vilella Dos Reis M, Sayuri Yamamoto T, Ribeiro Neto M, Ferraro O, Alves MJ, Guedes Coelho Lopes R.
    • Breast J. 2019 May 20. doi: 10.1111/tbj.13341. [Epub ahead of print]
    • Commentary
    • Genotype-phenotype associations among panel-based TP53+ subjects.
    • Rana HQ, Clifford J, Hoang L, LaDuca H, Helen Black M, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE.
    • Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0541-y. [Epub ahead of print]
    • 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.
    • Primary breast cancer in a patient with Wilson disease: A case report.
    • Li D, Wang J, Gao J.
    • Medicine (Baltimore). 2019 May;98(19):e15266. doi: 10.1097/MD.0000000000015266.
    • Cancer incidence in familial Mediterranean fever patients: a retrospective analysis from central Anatolia.
    • Bilgin E, Dizdar Ö, Güven DC, Ceylan S, Aybi Ö, Fırlatan B, Kardaş RC, Yıldırım T, Hayran MK, Kalyoncu U, Özen S.
    • Rheumatol Int. 2019 Apr 25. doi: 10.1007/s00296-019-04311-x. [Epub ahead of print]

    Letter, Commentary:

    A closer look at familial Mediterranean fever cases in a large breast cancer dataset.

    • 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.
    • Data-adaptive multi-locus association testing in subjects with arbitrary genealogical relationships.
    • Gong G, Wang W, Hsieh CL, Van Den Berg DJ, Haiman C, Oakley-Girvan I, Whittemore AS.
    • Stat Appl Genet Mol Biol. 2019 Apr 8. pii: /j/sagmb.ahead-of-print/sagmb-2018-0030/sagmb-2018-0030.xml. doi: 10.1515/sagmb-2018-0030. [Epub ahead of print]
    • Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.
    • Mirandola S, Pellini F, Granuzzo E, Lorenzi M, Accordini B, Ulgelmo M, Invento A, Lombardi D, Caldana M, Pollini GP.
    • Int J Surg Case Rep. 2019 Apr 5;58:92-95. doi: 10.1016/j.ijscr.2019.03.053. [Epub ahead of print]
    • Family history of cancer, Ashkenazi Jewish ancestry, and pancreatic cancer risk.
    • Hamada T, Yuan C, Yurgelun MB, Perez K, Khalaf N, Morales-Oyarvide V, Babic A, Nowak JA, Rubinson DA, Giannakis M, Ng K, Kraft P, Stampfer MJ, Giovannucci EL, Fuchs CS, Ogino S, Wolpin BM.
    • Br J Cancer. 2019 Apr;120(8):848-854. doi: 10.1038/s41416-019-0426-5. Epub 2019 Mar 14.
    • 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
    • Familial Pancreatic Cancer and Surveillance of High-Risk Individuals.
    • Matsubayashi H, Takaori K, Morizane C, Kiyozumi Y.
    • Gut Liver. 2019 Mar 26. doi: 10.5009/gnl18449. [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.
    • BRCA2 and Other DDR Genes in Prostate Cancer.
    • Nombela P, Lozano R, Aytes A, Mateo J, Olmos D, Castro E.
    • Cancers (Basel). 2019 Mar 12;11(3). pii: E352. doi: 10.3390/cancers11030352.
    • Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.
    • Berger G, van den Berg E, Smetsers S, Leegte BK, Sijmons RH, Abbott KM, Mulder AB, Vellenga E.
    • Br J Haematol. 2019 Mar;184(6):1071-1073. doi: 10.1111/bjh.15265. Epub 2018 May 16.
    • 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.
    • Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.
    • Fulton AJ, Lamarca A, Nuttall C, McCallum L, Pihlak R, O'Reilly D, Lalloo F, McNamara MG, Hubner RA, Clancy T, Valle JW.
    • World J Gastrointest Oncol. 2019 Feb 15;11(2):102-116. doi: 10.4251/wjgo.v11.i2.102.
    • 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]
    • Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
    • Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.
    • Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.
    • Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
    • Toss A, Venturelli M, Molinaro E, Pipitone S, Barbieri E, Marchi I, Tenedini E, Artuso L, Castellano S, Marino M, Tagliafico E, Razzaboni E, De Matteis E, Cascinu S, Cortesi L.
    • Cancers (Basel). 2019 Feb 7;11(2). pii: E193. doi: 10.3390/cancers11020193.
    • Familial Cancer Clustering in Patients with Prolactinoma.
    • Pekic S, Soldatovic I, Miljic D, Stojanovic M, Doknic M, Petakov M, Popovic V.
    • Horm Cancer. 2019 Feb;10(1):45-50. doi: 10.1007/s12672-018-0348-3. Epub 2018 Sep 8.
    • 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.
    • Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
    • Ohmoto A, Yachida S, Morizane C.
    • Int J Mol Sci. 2019 Jan 29;20(3). pii: E561. doi: 10.3390/ijms20030561.
    • Shared heritability and functional enrichment across six solid cancers.
    • Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubiński J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S.
    • Nat Commun. 2019 Jan 25;10(1):431. doi: 10.1038/s41467-018-08054-4.
    • Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report.
    • Llinás-Quintero N, Cabrera-Florez E, Mendoza-Fandiño G, Matute-Turizo G, Vasquez-Trespalacios EM, Gallón-Villegas LJ.
    • Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
    • Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
    • Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
    • Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
    • Bush L, Aronson M, Tabori U, Campbell BB, Bedgood RB, Jasperson K.
    • Fam Cancer. 2019 Jan;18(1):105-108. doi: 10.1007/s10689-018-0088-0.
    • Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
    • Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.
    • Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.
    • Ovarian Clear Cell Carcinoma in Cowden Syndrome.
    • Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C.
    • J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065.
    • Case report
    • Squamous cell carcinoma-A rare pancreatic exocrine malignancy.
    • Wahab A, Gonzalez JJ, Devarkonda V, Saint-Phard T, Singh T, Adekolujo OS.
    • Cancer Biol Ther. 2019;20(5):593-596. doi: 10.1080/15384047.2018.1539291. Epub 2018 Nov 2.
    • Case report
    • Family History of Breast Cancer Associated with Breast Cancer in Survivors of Hodgkin Lymphoma.
    • Colonna S, Curtin K, Johnson E, Kohlmann W, Wright J, Kirchhoff A, Tavtigian S, Schiffman J.
    • Int J Cancer Clin Res. 2019;6(1). pii: 107. doi: 10.23937/2378-3419/1410107. Epub 2019 Feb 25.
    • 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.
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    • Review
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    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
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    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Commentary:

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

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
    • Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV.
    • BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5.
    • Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
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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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    • Letter, Case report
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    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
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    • Family history of breast cancer increases the risk of prostate cancer: results from the EPICAP study.
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    • Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
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    • Hereditary association between testicular cancer and familial ovarian cancer: A Familial Ovarian Cancer Registry study.
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    • Does Endometriosis Hinder Successful Ovarian Debulking Surgery?
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    • Inherited factors contribute to an inverse association between preeclampsia and breast cancer.
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    • Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
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    • Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.
    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
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    • Familial associations of male breast cancer with other cancers.
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    • Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.
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    • 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.
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    • Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
    • Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.
    • J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

    Commentary:

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

    Commentary:

    Your Genes: Getting the Best Fit.

    • Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report.
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    • GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
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    • Ann Hematol. 2017 Oct;96(10):1635-1639. doi: 10.1007/s00277-017-3076-9. Epub 2017 Jul 27.
    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
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    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.
    • Vengoechea J, Tallo C.
    • J Med Genet. 2017 Oct;54(10):682-684. doi: 10.1136/jmedgenet-2017-104690. Epub 2017 Jul 28.
    • Letter, Case report
    • Male Breast Cancer: Epidemiology and Risk Factors.
    • Abdelwahab Yousef AJ.
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    • Review
    • 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.
    • Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation.
    • Giri VN, Obeid E, Gross L, Bealin L, Hyatt C, Hegarty SE, Montgomery S, Forman A, Bingler R, Kelly WK, Dicker AP, Winheld S, Trabulsi EJ, Chen DYT, Lallas CD, Allen BA, Daly MB, Gomella LG.
    • JCO Precis Oncol. doi: 10.1200/PO.16.00039. Epub 2017 May 4.

    Editorial: Genetic Testing for Prostate Cancer in Clinical Practice. (JCO Precision Oncology)

    • Granular cell tumor in breast: a case report.
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    • Familial Associations Between Prostate Cancer and Other Cancers.
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    • Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations.
    • [No author given]
    • My Gene Counsel. 2016 Nov 22.
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    • Oncotarget. 2016 Nov 8;7(45):74227-74235. doi: 10.18632/oncotarget.12490.
    • 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.
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    • Family History of Cancer in Relation to Breast Cancer Subtypes in African American Women.
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    • Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
    • Hu C, Hart SN, Bamlet WR, Moore RM, Nandakumar K, Eckloff BW, Lee YK, Petersen GM, McWilliams RR, Couch FJ.
    • Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):207-11. doi: 10.1158/1055-9965.EPI-15-0455. Epub 2015 Oct 19.
    • Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer?
    • Chikman B, Davidson T, Kais H, Jeroukhimov I, Leshno A, Sandbank J, Halevy A, Lavy R.
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    • Case report
    • Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
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    • Oncology. [2015 Oct;]89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.
    • PanGen-Fam: Spanish registry of hereditary pancreatic cancer.
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    • Eur J Cancer. 2015 Sep;51(14):1911-7. doi: 10.1016/j.ejca.2015.07.004. Epub 2015 Jul 23.
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
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    Editorial:

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

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    • Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
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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.
    • Campacci N, de Lima JO, Ramadan L, Palmero EI.
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    • Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.
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    • Familial risk of melanoma and links with other cancers.
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    • Survival outcome in endometrial cancer patients according to hereditary predisposition.
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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.
    • Vaughan MH, Modesitt SC, Mo Y, Trowbridge ER.
    • Case Rep Obstet Gynecol. 2015;2015:760429. doi: 10.1155/2015/760429. Epub 2015 Feb 23.
    • Genetic counseling for fanconi anemia: crosslinking disciplines.
    • Zierhut HA, Tryon R, Sanborn EM.
    • J Genet Couns. 2014 Dec;23(6):910-21. doi: 10.1007/s10897-014-9754-z. Epub 2014 Sep 20.
    • Review

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

    Source

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    • 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.
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