• Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.
    • Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.
    • Alghanim HM, Eltawel M, Alhaidari AI, Alobaid MM, Moghairi AM, Sufiani F, Ahmad N.
    • Pediatr Hematol Oncol. 2023 Feb 2:1-8. doi: 10.1080/08880018.2022.2154417. Epub ahead of print.
    • Case report
    • Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.
    • Lehman B, Matthäi E, Gercke N, Denzer UW, Figiel J, Hess T, Slater EP, Bartsch DK.
    • Fam Cancer. 2023 Jan 31. doi: 10.1007/s10689-023-00328-1. Epub ahead of print.
    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
    • Das hereditäre diffuse Magenkarzinom [Hereditary diffuse gastric cancer].
    • Knipper K, Fuchs HF, Alakus H, Bruns CJ, Schmidt T.
    • Chirurgie (Heidelb). 2023 Jan 26. German. doi: 10.1007/s00104-023-01806-z. Epub ahead of print.
    • Review. [Article in German]
    • Importance of timely genetics services and critical evaluation of diagnosis and reported family history when assessing for hereditary cancer syndromes. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Malca S.
    • Fam Cancer. [P-08: Case Reports» Case Series on any topic.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract, Case report
    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.
    • Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].
    • Kratz CP, Evans DG.
    • Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
    • Letter. Commentary

    Related:

    •• Reply:

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

    •• Original research:

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

    • Molecular characteristics of Asian male BRCA-related cancers.
    • Kwong A, Ho CYS, Shin VY, Ng ATL, Chan TL, Ma ESK.
    • Breast Cancer Res Treat. 2023 Jan 13. doi: 10.1007/s10549-022-06651-y. Epub ahead of print.
    • A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
    • Soleimani T, Bourdon C, Davis J, Fortes T.
    • Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.
    • A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome.
    • Oki R, Urasaki T, Ueki A, Inamura K, Komai Y, Takahashi S, Yonese J, Yuasa T.
    • IJU Case Rep. 2022 Oct 28 [eCollection 2023 Jan];6(1):33-36. doi: 10.1002/iju5.12542.
    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
    • Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
    • Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C.
    • JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415.
    • Pathologic complete response following FOLFIRINOX and olaparib treatment for hepatic metastasized pancreatic ductal adenocarcinoma with a germline BRCA mutation.
    • Okada K, Uemura K, Okamoto W, Sumiyoshi T, Shintakuya R, Otsuka H, Serikawa M, Ishii Y, Arihiro K, Takahashi S.
    • Clin J Gastroenterol. 2022 Dec 27. doi: 10.1007/s12328-022-01741-2. Epub ahead of print.
    • Case report
    • The therapeutic relevance of a BRCA2 mutation in a patient with recurrent thymoma: a case report.
    • Sigurdson S, Marom EM, Rimner A, Shepherd A, Szolkowska M, Roden AC, Marino M, Tomiyama N, Ball D, Falkson C, Rajan A.
    • Mediastinum. 2022 Dec 25;6:40. doi: 10.21037/med-22-9.
    • Family History of Prostate Cancer and Survival Outcomes in the UK Genetic Prostate Cancer Study.
    • Brook MN, Ní Raghallaigh H, Govindasami K, Dadaev T, Rageevakumar R, Keating D, Hussain N, Osborne A, Lophatananon A; UKGPCS Collaborators; Muir KR, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2022 Dec 15:S0302-2838(22)02838-X. doi: 10.1016/j.eururo.2022.11.019. Epub ahead of print.
    • Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
    • Caliskan S, Akar OS, Gun S, Kefeli M.
    • Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.
    • The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
    • Wagener R, Walter C, Auer F, Alzoubi D, Hauer J, Fischer U, Varghese J, Dugas M, Borkhardt A, Brozou T.
    • Int J Cancer. 2022 Dec 5. doi: 10.1002/ijc.34390. Epub ahead of print.

    Related:

    •• Letter, Commentary:

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

    •• Reply:

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

    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    •• Research news: Genetic Variants Could Predict Prostate Cancer Risk in Black Men. (Inside Precision Medicine)

    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.
    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
    • Ben Aissa-Haj J, Pinheiron H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
    • Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.
    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.
    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review
    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.
    • Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.
    • Badheeb M, Abdelrahim A, Esmail A, Umoru G, Abboud K, Al-Najjar E, Rasheed G, Alkhulaifawin M, Abudayyeh A, Abdelrahim M.
    • Curr Oncol. 2022 Nov 15;29(11):8693-8719. doi: 10.3390/curroncol29110686.
    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.
    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.
    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.
    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.
    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.
    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1;268-269:128-136. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report
    • [Breast and Advanced Ovarian Double Cancer with a BRCA2 Pathogenic Variant-A Case Report].
    • Tanaka Y, Oota R, Takagi Y, Kodama W, Nishimura K, Hamasaki T, Fukino S, Suo K.
    • Gan To Kagaku Ryoho. 2022 Nov;49(11):1271-1273. Japanese.
    • Case report. [Article in Japanese]
    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.
    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report
    • Links between Breast and Thyroid Cancer: Hormones, Genetic Susceptibility and Medical Interventions.
    • Lu M, Liu H, Zheng B, Sun S, Chen C.
    • Cancers (Basel). 2022 Oct 19;14(20):5117. doi: 10.3390/cancers14205117.
    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Related:

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
    • Terashima T, Morizane C, Ushiama M, Shiba S, Takahashi H, Ikeda M, Mizuno N, Tsuji K, Yasui K, Azemoto N, Satake H, Nomura S, Yachida S, Sugano K, Furuse J.
    • Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
    • Six Case Reports of NTHL1-Associated Tumor Syndrome Further Support it as a Multi-Tumor Predisposition Syndrome.
    • Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
    • Clin Genet. 2022 Oct 4. doi: 10.1111/cge.14242. Epub ahead of print.
    • Case report
    • Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
    • Carley H, Kulkarni A.
    • Curr Genet Med Rep. 2022 [2022 Oct 4];10(1):1-13. doi: 10.1007/s40142-022-00203-y. Epub 2022 Oct 4.
    • Pancreatic mixed acinar-neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report.
    • Ikeda M, Miura S, Kume K, Kikuta K, Hamada S, Takikawa T, Nakagawa K, Unno M, Furukawa T, Masamune A.
    • Clin J Gastroenterol. 2022 Oct;15(5):999-1005. doi: 10.1007/s12328-022-01668-8. Epub 2022 Jul 12.
    • Case report
    • Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
    • Infante M, Arranz-Ledo M, Lastra E, Abella LE, Ferreira R, Orozco M, Hernández L, Martínez N, Durán M.
    • Int J Mol Sci. 2022 Sep 29;23(19):11499. doi: 10.3390/ijms231911499.
    • Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.
    • Green BL, Fasaye GA, Samaranayake SG, Duemler A, Gamble LA, Davis JL.
    • Front Genet. 2022 Sep 28;13:1012025. doi: 10.3389/fgene.2022.1012025.
    • Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
    • Shen K, Zhang M, Wang J, Mu W, Wang J, Wang C, Xing S, Hong Z, Xiao M.
    • Front Oncol. 2022 Sep 28;12:1036511. doi: 10.3389/fonc.2022.1036511.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
    • D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
    • Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
    • Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Br J Cancer. 2022 Sep 17. doi: 10.1038/s41416-022-01940-1. Epub ahead of print.
    • Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study.
    • Chen F, Park SL, Wilkens LR, Wan P, Hart SN, Hu C, Yadav S, Couch FJ, Conti DV, de Smith AJ, Haiman CA.
    • Cancer Res. 2022 Sep 16;82(18):3201-3208. doi: 10.1158/0008-5472.CAN-21-4461.
    • Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
    • Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU.
    • HPB (Oxford). 2022 Sep 15:S1365-182X(22)01593-3. doi: 10.1016/j.hpb.2022.09.003. Epub ahead of print.
    • Family history of prostate and breast cancer integrated with a polygenic risk score identifies men at highest risk of dying from prostate cancer before age 75 years.
    • Plym A, Zhang Y, Stopsack KH, Jee YH, Wiklund F, Kibel AS, Kraft P, Giovannucci E, Penney KL, Mucci LA.
    • Clin Cancer Res. 2022 Sep 14:CCR-22-1723. doi: 10.1158/1078-0432.CCR-22-1723. Epub ahead of print.
    • Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients.
    • Puccini A, Ponzano M, Dalmasso B, Vanni I, Gandini A, Puglisi S, Borea R, Cremante M, Bruno W, Andreotti V, Allavena E, Martelli V, Catalano F, Grassi M, Iaia ML, Pirrone C, Pastorino A, Fornarini G, Sciallero S, Ghiorzo P, Pastorino L.
    • Cancers (Basel). 2022 Sep 13;14(18):4447. doi: 10.3390/cancers14184447.
    • Clinical application of comprehensive genomic profiling panel to thoracic malignancies: A single-center retrospective study.
    • Kunimasa K, Sugimoto N, Kawamura T, Yamasaki T, Honma K, Nagata S, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Kitasaka M, Wakamatsu T, Yamai T, Yamamoto S, Hayashi T, Inoue T, Tamiya M, Imamura F, Nishimura K, Nishino K.
    • Thorac Cancer. 2022 Sep 13. doi: 10.1111/1759-7714.14643. Epub ahead of print.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
    • Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL.
    • Clin Genet. 2022 Sep 12. doi: 10.1111/cge.14231. Epub ahead of print.
    • Case report
    • Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
    • Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, Sugano K, Yoshida T, Matsuda K, Murakami Y, Maeda Y, Nakagawa H, Momozawa Y.
    • Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
    • A progressive and refractory case of breast cancer with Cowden syndrome.
    • Sueta A, Takeno M, Goto-Yamaguchi L, Tomiguchi M, Inao T, Yamamoto-Ibusuki M, Yamamoto Y.
    • World J Surg Oncol. 2022 Sep 3;20(1):279. doi: 10.1186/s12957-022-02745-5.
    • Significance of prostate/pancreatic/skin cancer family history for detecting BRCA2 pathogenic variant careers among patients with breast cancer.
    • Minoura Y, Takahashi M, Maeda H, Kuwahara S, Tachikawa H, Yamamoto M, Tomioka N, Watanabe K, Sakurai A.
    • Breast Cancer. 2022 Sep;29(5):808-813. doi: 10.1007/s12282-022-01360-2. Epub 2022 May 31.
    • HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report.
    • Mabuchi Y, Hamano Y, Minami S, Ota N, Ino K.
    • Oncol Lett. 2022 Jul 27 [eCollection 2022 Sep];24(3):325. doi: 10.3892/ol.2022.13445.
    • DNA damage repair gene germline profiling for metastatic prostate cancer patients of different ancestries.
    • Abdi B, Basset N, Perrot E, Benderra MA, Khalil A, Oudard S, Blanchet P, Brureau L, Coulet F, Cussenot O, Cancel-Tassin G.
    • Prostate. 2022 Sep;82(12):1196-1201. doi: 10.1002/pros.24374. Epub 2022 Jun 2.
    • Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
    • Wang X, Kaneko K, Arakawa H, Habano E, Omi M, Nakashima E, Kawachi H, Tonooka A, Omatsu K, Nomura H, Yunokawa M, Kanao H, Takahashi S, Nakajima T, Ueki A.
    • Case Rep Oncol. 2022 Aug 31;15(2):792-797. doi: 10.1159/000525941.
    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
    • Mossanen M, Nassar AH, Stokes SM, Martinez-Chanza N, Kumar V, Nuzzo PV, Kwiatkowski DJ, Garber JE, Curran C, Freeman D, Preston M, Mouw KW, Kibel A, Choueiri TK, Sonpavde G, Rana HQ.
    • Clin Genitourin Cancer. 2022 Aug 29:S1558-7673(22)00177-X. doi: 10.1016/j.clgc.2022.08.009. Epub ahead of print.
    • Reaching beyond family history as inclusion criteria for pancreatic cancer surveillance in high-risk populations.
    • Wang L, Domchek SM, Kochman ML, Katona BW.
    • Genes Cancer. 2022 Aug 29;13:49-51. doi: 10.18632/genesandcancer.223.
    • Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
    • Yu H, Xu Y, Gao W, Li M, He J, Deng X, Xing W.
    • Front Oncol. 2022 Aug 22;12:930611. doi: 10.3389/fonc.2022.930611.
    • Nijmegen Breakage Syndrome.
    • Varon R, Demuth I, Chrzanowska KH.
    • 1999 May 17 [updated 2022 Aug 18]. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.
    • Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
    • Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D.
    • Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2.
    • Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
    • Nunziato M, Di Maggio F, Pensabene M, Esposito MV, Starnone F, De Angelis C, Calabrese A, D'Aiuto M, Botti G, De Placido S, D'Argenio V, Salvatore F.
    • Front Med (Lausanne). 2022 Aug 11;9:894358. doi: 10.3389/fmed.2022.894358.
    • Association Between Family History and Risk of Pancreatic Cancer in Patients With BRCA1 and BRCA2 Pathogenic Variants.
    • Shah I, Silva-Santisteban A, Germansky KA, Kandasamy C, Mlabasati J, Huang DC, Wadhwa V, Bilal M, Sawhney MS.
    • Pancreas. 2022 Aug 1;51(7):733-738. doi: 10.1097/MPA.0000000000002104.
    • Significance of the Multi-gene Panel myRisk in Japan.
    • Hayashi S, Kubo M, Matsuzaki S, Kai M, Morisaki T, Yamada M, Kaneshiro K, Takao Y, Shimazaki A, Nagayoshi K, Mizuuchi Y, Nakamura M.
    • Anticancer Res. 2022 Aug;42(8):4097-4102. doi: 10.21873/anticanres.15907.
    • Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
    • Stubbins RJ, Korotev S, Godley LA.
    • Curr Hematol Malig Rep. 2022 Aug;17(4):94-104. doi: 10.1007/s11899-022-00663-7. Epub 2022 Jun 8.
    • Review
    • Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
    • Mondschein R, Bolton D, Clouston D, Dowty J, Kavanagh L, Murphy D, Scott P, Taylor RA, Thorne H.
    • Cancers (Basel). 2022 Jul 26;14(15):3623. doi: 10.3390/cancers14153623.
    • Case Report: Sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate.
    • Zhou T, Mahn R, Möhring C, Sadeghlar F, Meyer C, Toma M, Kreppel B, Essler M, Glowka T, Matthaei H, Kalff JC, Strassburg CP, Gonzalez-Carmona MA.
    • Front Oncol. 2022 Jul 25;12:933943. doi: 10.3389/fonc.2022.933943.
    • A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated with Familial Peripheral Neuroblastic Tumors in Two Siblings.
    • Yang Y, Chen J, Qin H, Jin Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Guo Y.
    • Front Genet. 2021 Jul 23;12:652718. doi: 10.3389/fgene.2021.652718.
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 19.
    • Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
    • Wu T, Wan J, Xia K, Yang M, Feng L, Yin L, Chen C.
    • Front Oncol. 2022 Jul 15;12:910264. doi: 10.3389/fonc.2022.910264.
    • Incidence of other cancer diagnoses in women with breast cancer: a retrospective cohort study with 42,248 women.
    • Nikolov I, Kostev K, Kalder M.
    • Breast Cancer Res Treat. 2022 Jul 12. doi: 10.1007/s10549-022-06666-5. Epub ahead of print.
    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Related:

    Original research:

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

    • Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
    • Kim SR, Tone A, Kim R, Cesari M, Clarke B, Hart T, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE, Eiriksson L.
    • Int J Gynecol Cancer. 2022 Jul 4;32(7):891-898. doi: 10.1136/ijgc-2021-003082.
    • Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
    • Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gümüs ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.
    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 Jul;10(7):e1940. doi: 10.1002/mgg3.1940. Epub 2022 May 24.
    • A patient with relapsed high-grade serous ovarian carcinoma with somatic RAD51C mutations treated with PARPi monotherapy: a case report.
    • Ngu SF, Ngan HYS, Chan KKL.
    • Cancer Drug Resist. 2022 Jun 22;5(3):662-666. doi: 10.20517/cdr.2022.12.
    • Association between Breast Cancer and Second Primary Lung Cancer among the Female Population in Taiwan: A Nationwide Population-Based Cohort Study.
    • Lin FW, Yeh MH, Lin CL, Wei JC.
    • Cancers (Basel). 2022 Jun 16;14(12):2977. doi: 10.3390/cancers14122977.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • ASGE Expands BRCA Screening for Pancreatic Cancer.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Jun 9.

    Related:

    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.
    • Ge S, Wang B, Wang Z, He J, Ma X.
    • Front Oncol. 2022 Jun 8;12:840431. doi: 10.3389/fonc.2022.840431.
    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Related:

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

    • Hereditary Cancer Gene Variants in Hispanic Men With a Personal or Family History of Prostate Cancer.
    • Ramamurthy C, Stutz EW, Goros M, Gelfond J, Johnson-Pais TL, Thompson IM Jr, Leach RJ, Liss MA.
    • Clin Genitourin Cancer. 2022 Jun;20(3):237-243. doi: 10.1016/j.clgc.2022.01.008. Epub 2022 Jan 14.
    • Should We Test Cancer Susceptibility Genes in Routinely Used Multigene Panels? A Case of Synchronous Lung Adenocarcinoma and Breast Cancer Associated With Germline CHEK2 Mutation.
    • Federico AD, Gelsomino F, De Biase D, Ardizzoni A.
    • Clin Lung Cancer. 2022 Jun;23(4):e283-e284. doi: 10.1016/j.cllc.2021.09.011. Epub 2021 Oct 10.
    • Letter, Case report

    Related:

    Case report:

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

    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report
    • Homologous Recombination Deficiency in Pancreatic Cancer: Poly (ADP-ribose) Polymerase Inhibition, Checkpoint Inhibition, or a Combination of Both?
    • Keane F, Park W, O'Reilly EM.
    • JCO Precis Oncol. 2022 Jun;6:e2200141. doi: 10.1200/PO.22.00141.

    Related:

    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.

    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    • Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K.
    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2022 May 1;31(3):274-278. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report.
    • Bogomilova Kamburova Z, Lubenova Popovska S, Stefanova Kovacheva K, Todorov Petrov K, Enkova Nikolova S.
    • Biomed Rep. 2022 May;16(5):39. doi: 10.3892/br.2022.1522. Epub 2022 Mar 14.
    • Pancreatic cancer risk to siblings of probands in bilineal cancer settings.
    • Rabe KG, Stevens MA, Hernández AT, Chandra S, Hubbard JM, Kemppainen JL, Majumder S, Petersen GM.
    • Genet Med. 2022 May;24(5):1008-1016. doi: 10.1016/j.gim.2022.01.016. Epub 2022 Feb 25.
    • Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX.
    • Campoverde LE, Batalini F, Bulushi Y, Bullock A.
    • BMJ Case Rep. 2022 Apr 29;15(4):e249370. doi: 10.1136/bcr-2022-249370.
    • Case report
    • Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.
    • Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S.
    • Biomedicines. 2022 Apr 26;10(5):1004. doi: 10.3390/biomedicines10051004.
    • Choroidal Metastasis With Secondary Retinal Detachment in a Man With BCRA2-Associated Breast Adenocarcinoma.
    • Sanayei N, Davoudi S, Port A, Chen X.
    • Cureus. 2022 Apr 18;14(4):e24243. doi: 10.7759/cureus.24243.
    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
    • Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C.
    • Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
    • A founder CHEK2 pathogenic variant in association with kidney cancer.
    • Brooks K, Holman M, Steding C, Tucker M.
    • Cancer Genet. 2022 Apr;262-263:40-42. doi: 10.1016/j.cancergen.2021.12.007. Epub 2021 Dec 23.
    • Case report
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
    • Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
    • Cancer Med. 2022 Apr;11(8):1745-1752. doi: 10.1002/cam4.4549. Epub 2022 Feb 17.
    • Familial pancreatic cancer: who should be considered for genetic testing?
    • Kartal K, Guan Z, Tang R, Griffin M, Wang Y, Braun D, Klein AP, Hughes KS.
    • Ir J Med Sci. 2022 Apr;191(2):641-650. doi: 10.1007/s11845-021-02572-9. Epub 2021 Mar 17.
    • Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report.
    • Hemenway G, Tierno MB, Nejati R, Sosa R, Zibelman M.
    • Case Rep Oncol. 2022 Feb 7 [eCollection Jan-Apr 2022];15(1):78-85. doi: 10.1159/000521841.
    • Genetic Analysis of a Family with Multiple Incidences of Prostate Cancer.
    • Feng N, Liu F, Xu X, Wang Y, Sheng Q, Zhu K.
    • Case Rep Oncol. 2022 Feb 7 [eCollection Jan-Apr 2022];15(1):86-90. doi: 10.1159/000521122.
    • Hereditary Diffuse Gastric Cancer-Update Based on the Current Consort Recommendations.
    • Treese C, Siegmund B, Daum S.
    • Curr Oncol. 2022 Mar 30;29(4):2454-2460. doi: 10.3390/curroncol29040199.
    • You Don’t Have a BRCA Mutation, But Could You Have Lynch Syndrome?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Mar 22.

    Related:

    Original research:

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

    • Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
    • Beck SH, Jelsig AM, Yassin HM, Lindberg LJ, Wadt KAW, Karstensen JG.
    • Fam Cancer. 2022 Mar 16. doi: 10.1007/s10689-022-00291-3. Epub ahead of print.
    • Review
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
    • Emelyanova M, Pudova E, Khomich D, Krasnov G, Popova A, Abramov I, Mikhailovich V, Filipenko M, Menshikova S, Tjulandin S, Pokataev I.
    • Ther Adv Med Oncol. 2022 Mar 15;14:17588359221083050. doi: 10.1177/17588359221083050.
    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
    • Godin P, Duhoux FP, Mazzeo F, Rojas M, Bollue E, François A, Galant C, Coulie J, Coyette M, Lentini A, Deswisen Y, Perlepe V, Fellah L, Leconte I, Berlière M.
    • Case Rep Oncol. 2022 Mar 14;15(1):238-244. doi: 10.1159/000521840.
    • Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
    • Sassi H, Meddeb R, Cherif MA, Nasr C, Riahi A, Hannachi S, Belguith N, M'rad R.
    • BMC Med Genomics. 2022 Mar 4;15(1):44. doi: 10.1186/s12920-022-01189-w.
    • Risk of Second Malignant Neoplasm in Familial Non-Medullary Thyroid Cancer Patients.
    • Capezzone M, Sagnella A, Cantara S, Fralassi N, Maino F, Forleo R, Brilli L, Pilli T, Cartocci A, Castagna MG.
    • Front Endocrinol (Lausanne). 2022 Mar 4;13:845954. doi: 10.3389/fendo.2022.845954.
    • A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
    • Rodwin RL, Janardan SK, Hofstatter EW, Kadan-Lottick NS.
    • J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e585-e588. doi: 10.1097/MPH.0000000000002270.
    • Case report
    • Recurrent Acromegaly in a Patient With a CHEK2 Mutation.
    • Perosevic M, Martinez-Lage M, Swearingen B, Tritos NA.
    • AACE Clin Case Rep. 2021 Nov 20 [eCollection Mar-Apr 2022];8(2):85-88. doi: 10.1016/j.aace.2021.10.006.
    • Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
    • Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D.
    • Am J Med Genet A. 2022 Mar;188(3):911-918. doi: 10.1002/ajmg.a.62575. Epub 2021 Nov 19.
    • Case report
    • Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
    • McGuigan A, Whitworth J, Andreou A, Hearn T; Genomics England Research Consortium, Tischkowitz M, Maher ER.
    • Eur J Hum Genet. 2022 Mar;30(3):265-270. doi: 10.1038/s41431-021-01013-6. Epub 2022 Jan 4.

    Related:

    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.
    • Švajdler P, Vasovcák P, Švajdler M, Šedivcová M, Urbán V, Michal M, Mezencev R.
    • Cancers (Basel). 2022 Feb 25;14(5):1208. doi: 10.3390/cancers14051208.
    • The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation.
    • Li X, Xue H, Luo N, Han T, Li M, Jia D.
    • Front Genet. 2022 Feb 23;13:718689. doi: 10.3389/fgene.2022.718689.
    • Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
    • Boonen RACM, Wiegant WW, Celosse N, Vroling B, Heijl S, Kote-Jarai Z, Mijuskovic M, Cristea S, Solleveld-Westerink N, van Wezel T, Beerenwinkel N, Eeles R, Devilee P, Vreeswijk MPG, Marra G, van Attikum H.
    • Cancer Res. 2022 Feb 15;82(4):615-631. doi: 10.1158/0008-5472.CAN-21-1845.
    • Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
    • Vietri MT, D'Elia G, Caliendo G, Albanese L, Signoriello G, Napoli C, Molinari AM.
    • Genes (Basel). 2022 Feb 9;13(2):321. doi: 10.3390/genes13020321.
    • Studying the association between breast cancer and renal cell carcinoma.
    • Jazieh K, Baidoun F, Torrejon N, Merjaneh Z, Saad A, Gad M, Farouk A, Ornstein M, Abraham J.
    • Breast Cancer Res Treat. 2022 Feb;191(3):643-652. doi: 10.1007/s10549-021-06465-4. Epub 2021 Dec 2.
    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • Exceptional Response to Olaparib and Pembrolizumab for Pancreatic Adenocarcinoma With Germline BRCA1 Mutation and High Tumor Mutation Burden: Case Report and Literature Review.
    • Lundy J, McKay O, Croagh D, Ganju V.
    • JCO Precis Oncol. 2022 Jan [27];6:e2100437. doi: 10.1200/PO.21.00437.

    Related:

    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.
    • Kasuga A, Okamoto T, Udagawa S, Mori C, Mie T, Furukawa T, Yamada Y, Takeda T, Matsuyama M, Sasaki T, Ozaka M, Ueki A, Sasahira N.
    • Int J Mol Sci. 2022 Jan 21;23(3):1205. doi: 10.3390/ijms23031205.
    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
    • Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100078. doi: 10.1016/j.xhgg.2021.100078.
    • Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
    • Bouras A, Lafaye C, Leone M, Kherraf ZE, Martin-Denavit T, Fert-Ferrer S, Calender A, Boutry-Kryza N.
    • Int J Mol Sci. 2022 Jan 8;23(2):667. doi: 10.3390/ijms23020667.
    • Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
    • Garcia-Pelaez J, Barbosa-Matos R, São José C, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C.
    • Eur J Med Genet. 2022 Jan;65(1):104401. doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 3.
    • Review
    • Genetic predisposition to prostate cancer: an update.
    • Ni Raghallaigh H, Eeles R.
    • Fam Cancer. 2022 Jan;21(1):101-114. doi: 10.1007/s10689-021-00227-3. Epub 2021 Jan 24.
    • Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer.
    • Rustgi SD, Hilfrank KJ, Kastrinos F.
    • Gastrointest Endosc Clin N Am. 2022 Jan;32(1):1-12. doi: 10.1016/j.giec.2021.09.001.
    • Review
    • Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
    • McReynolds LJ, Giri N, Leathwood L, Risch MO, Carr AG, Alter BP.
    • 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.
    • Sahin I, Saat H.
    • Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108.
    • Genetic Testing Challenges in Oncology: Prior Retinoblastoma Not Considered in Test Ordering.
    • Ray T.
    • Precision Oncology News. Disease Areas. 2021 Dec 22.
    • Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients.
    • Siraj AK, Masoodi T, Bu R, Parvathareddy SK, Iqbal K, Azam S, Al-Rasheed M, Ajarim D, Tulbah A, Al-Dayel F, Al-Kuraya KS.
    • Hered Cancer Clin Pract. 2021 Dec 14;19(1):49. doi: 10.1186/s13053-021-00206-w.
    • Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
    • Shen L, Zhang S, Wang K, Wang X.
    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Related:

    Commentary:

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

    • A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO.
    • Blackford AL, Childs EJ, Porter N, Petersen GM, Rabe KG, Gallinger S, Borgida A, Syngal S, Cote ML, Schwartz AG, Goggins MG, Hruban RH, Parmigiani G, Klein AP.
    • Br J Cancer. 2021 Dec;125(12):1712-1717. doi: 10.1038/s41416-021-01580-x. Epub 2021 Oct 26.
    • Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.
    • Rana HQ, Koeller DR, Schwartz A, Manning DK, Schneider KA, Krajewski KM, Choueiri TK, Lindeman NI, Garber JE, Ghazani AA.
    • Eur J Med Genet. 2021 Dec;64(12):104359. doi: 10.1016/j.ejmg.2021.104359. Epub 2021 Oct 8.
    • Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.
    • Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, Nakagawara A, Tsunematsu Y.
    • Int J Clin Oncol. 2021 Dec;26(12):2161-2178. doi: 10.1007/s10147-021-02011-w. Epub 2021 Oct 11. Erratum in: Int J Clin Oncol. 2021 Dec 3;:
    • Family history of breast cancer is associated with elevated risk of prostate cancer: evidence for shared genetic risks.
    • Calvo Chozas A, Mahjani B, Rönnegård L.
    • Hum Hered. 2021 Nov 30. doi: 10.1159/000521215. Epub ahead of print.
    • Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.
    • Futagawa M, Yamamoto H, Kochi M, Urakawa Y, Sogawa R, Kato F, Okazawa-Sakai M, Ennishi D, Shinozaki K, Inoue H, Yanai H, Hirasawa A.
    • Hered Cancer Clin Pract. 2021 Nov 27;19(1):48. doi: 10.1186/s13053-021-00205-x.
    • Family history of breast cancer as a second primary malignancy in relatives: a nationwide cohort study.
    • Zheng G, Sundquist J, Sundquist K, Ji J.
    • BMC Cancer. 2021 Nov 12;21(1):1210. doi: 10.1186/s12885-021-08925-y.
    • Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
    • Hata T, Mizuma M, Motoi F, Ishida M, Ohtsuka H, Nakagawa K, Morikawa T, Furukawa T, Unno M.
    • Ann Gastroenterol Surg. 2021 Jun 28;5(6):853-864. doi: 10.1002/ags3.12482. eCollection 2021 Nov.
    • Assessment of mismatch repair deficiency in ovarian cancer.
    • Crosbie EJ, Ryan NAJ, McVey RJ, Lalloo F, Bowers N, Green K, Woodward ER, Clancy T, Bolton J, Wallace AJ, McMahon RF, Evans DG.
    • J Med Genet. 2021 Oct;58(10):687-691. doi: 10.1136/jmedgenet-2020-107270. Epub 2020 Sep 11.
    • Concomitant diagnosis of endometrial and breast cancer - does the sequence matters?
    • Stern T, Peleg Hasson S, Saad A, Levanon K, Michaan N, Laskov I, Wolf I, Safra T.
    • Gynecol Oncol Rep. 2021 Sep 20;38:100863. doi: 10.1016/j.gore.2021.100863. eCollection 2021 Nov.
    • Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
    • Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, On Behalf Of The Polish Hereditary Prostate Cancer Consortium.
    • Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
    • Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
    • Karin W, Håkan T, Daniel N, Emma T.
    • Hered Cancer Clin Pract. 2021 Oct 28;19(1):46. doi: 10.1186/s13053-021-00203-z.
    • Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Oct 28.
    • Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
    • Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL.
    • JAMA Surg. 2021 Oct 13. doi: 10.1001/jamasurg.2021.5118. Epub ahead of print.
    • Excess risk of subsequent malignant neoplasms in adolescent and young adult cancer survivors: Results from the first Italian population-based cohort.
    • Trama A, Tittarelli A, Barigelletti G, Botta L, Gatta G, Tagliabue G, Contiero P, Guzzinati S, Andreano A, Manneschi G, Falcini F, Castaing M, Filiberti RA, Gasparotti C, Cirilli C, Mazzucco W, Mangone L, Iacovacci S, Vitale MF, Stracci F, Piffer S, Tumino R, Carone S, Sampietro G, Melcarne A, Ballotari P, Boschetti L, Pisani S, Cavalieri D'Oro L, Cuccaro F, D'Argenzio A, D'Orsi G, Fanetti AC, Ardizzone A, Candela G, Savoia F, Pascucci C, Castelli M, Storchi C, Bernasconi A.
    • Cancer. 2021 Sep 28. doi: 10.1002/cncr.33931. Epub ahead of print.
    • Fanconi Anaemia, Childhood Cancer and the BRCA Genes.
    • Woodward ER, Meyer S.
    • Genes (Basel). 2021 Sep 27;12(10):1520. doi: 10.3390/genes12101520.
    • Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations.
    • Reichl F, Muhr D, Rebhan K, Kramer G, Shariat SF, Singer CF, Tan YY.
    • J Pers Med. 2021 Sep 15;11(9):917. doi: 10.3390/jpm11090917.
    • Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
    • Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
    • Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.
    • Homozygous Germline APC p.I1307K Variants: A Case Series.
    • Rosenblum A, Springer M, Eppolito A, Axell L, Mohler L.
    • Case Rep Oncol. 2021 Sep 14;14(3):1295-1303. doi: 10.1159/000518683.
    • Synchronous Breast Carcinoma, Uterine Myoma, and Ovarian Teratoma in a Single Woman.
    • Das S, Bramhachari S, Halder A, Tandon A, Lalchandani A.
    • Cureus. 2021 Sep 14;13(9):e17977. doi: 10.7759/cureus.17977.
    • After Three Cancer Diagnoses and a Positive BRCA Test, Endometrial Cancer.
    • Walter P.
    • FORCE. Blog. 2021 Sep 9.
    • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
    • Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
    • Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.
    • Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.
    • Cheung M, Kadariya Y, Sementino E, Hall MJ, Cozzi I, Ascoli V, Ohar JA, Testa JR.
    • Hum Mol Genet. 2021 Aug 28;30(18):1750-1761. doi: 10.1093/hmg/ddab138.
    • Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
    • Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P.
    • NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8.
    • Cancer predisposition and germline CTNNA1 variants.
    • Lobo S, Benusiglio PR, Coulet F, Boussemart L, Golmard L, Spier I, Hüneburg R, Aretz S, Colas C, Oliveira C.
    • Eur J Med Genet. 2021 Aug 20:104316. doi: 10.1016/j.ejmg.2021.104316. Epub ahead of print.
    • Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.
    • Aaquist T, Dembic M, Thomassen M, de Stricker K, Bertelsen M, Christensen LG, Mortensen MB, Detlefsen S.
    • Pathol Res Pract. 2021 Aug 17;226:153590. doi: 10.1016/j.prp.2021.153590. Epub ahead of print.
    • POLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
    • Magrin L, Fanale D, Brando C, Fiorino A, Corsini LR, Sciacchitano R, Filorizzo C, Dimino A, Russo A, Bazan V.
    • Oncogene. 2021 Aug 6. doi: 10.1038/s41388-021-01984-2. Epub ahead of print.
    • Review
    • Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.
    • Duzkale Teker N, Eyerci N.
    • Breast Care (Basel). 2021 Aug;16(4):412-417. doi: 10.1159/000511430. Epub 2020 Oct 29.
    • Case report
    • Overview of Prostate Cancer Genetic Testing.
    • Chandrasekar T, Kelly WK, Gomella LG.
    • Urol Clin North Am. 2021 Aug;48(3):279-282. doi: 10.1016/j.ucl.2021.04.002. Epub 2021 Jun 10.
    • Review
    • Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
    • Oliveira LJC, Gongora ABL, Lima FAS, Canedo FSNA, Quirino CV, Pisani JP, Achatz MI, Rossi BM.
    • Hered Cancer Clin Pract. 2021 Jul 21;19(1):32. doi: 10.1186/s13053-021-00189-8.
    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
    • Ovarian metastasis from breast cancer mimicking a primary ovarian neoplasm: A case report.
    • Akizawa Y, Kanno T, Horibe Y, Shimizu Y, Noguchi E, Yamamoto T, Okamoto T, Nagashima Y, Tabata T.
    • Mol Clin Oncol. 2021 Jul;15(1):135. doi: 10.3892/mco.2021.2297. Epub 2021 May 17. PMID: 34055350; PMCID: PMC8145603.
    • Malignant salivary gland tumours in families with breast cancer susceptibility.
    • Ripamonti CB, Bossi P, Manoukian S, Locati L, Colombo M, Carcangiu ML, Vingiani A, Licitra L, Radice P.
    • Virchows Arch. 2021 Jul;479(1):221-226. doi: 10.1007/s00428-021-03105-6. Epub 2021 Jun 8.
    • Case report
    • Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type.
    • Maccaroni E, Lenci E, Agostinelli V, Cognigni V, Giampieri R, Mazzanti P, Di Pietro Paolo M, Bianchi F, Brugiati C, Belvederesi L, Pagliaretta S, Mandolesi A, Scarpelli M, Murrone A, Morgese F, Ballatore Z, Berardi R.
    • Explor Target Antitumor Ther. 2021 [Jun 28];2(3):240-248. doi: 10.37349/etat.2021.00044. Epub 2021 Jun 28.
    • A Retrospective 5-Year Single Center Study Highlighting the Risk of Cancer Predisposition in Adolescents and Young Adults.
    • Jordan F, Huber S, Sommer S, Schenkirsch G, Frühwald MC, Trepel M, Claus R, Kuhlen M.
    • Cancers (Basel). 2021 Jun 17;13(12):3033. doi: 10.3390/cancers13123033.
    • Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
    • Bakos B, Kiss A, Árvai K, Szili B, Deák-Kocsis B, Tobiás B, Putz Z, Ármós R, Balla B, Kósa J, Dank M, Valkusz Z, Takács I, Tabák Á, Lakatos P.
    • BMC Cancer. 2021 Jun 15;21(1):706. doi: 10.1186/s12885-021-08377-4.
    • Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study.
    • Mukama T, Kharazmi E, Sundquist K, Sundquist J, Fallah M.
    • Cancer. 2021 Jun 15;127(12):2091-2098. doi: 10.1002/cncr.33456. Epub 2021 Feb 23.
    • Mutational analysis of apoptotic genes in familial aggregation of hematological malignancies.
    • Hamadou WS, Mani R, Bouali N, Besbes S, Bourdon V, El Abed R, Ben Youssef Y, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.
    • Bull Cancer. 2021 Jun 14:S0007-4551(21)00207-1. doi: 10.1016/j.bulcan.2021.04.009. Epub ahead of print.
    • Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer.
    • Wang A, Everett JN, Chun J, Cen C, Simeone DM, Schnabel F.
    • Sci Rep. 2021 Jun 14;11(1):12491. doi: 10.1038/s41598-021-91971-0.
    • Recent Insights on Genetic Testing in Primary Prostate Cancer.
    • Kafka M, Surcel C, Heidegger I.
    • Mol Diagn Ther. 2021 Jun 12. doi: 10.1007/s40291-021-00529-3. Epub ahead of print.
    • Family history of early onset acute lymphoblastic leukemia is suggesting genetic associations.
    • Li X, Sundquist K, Sundquist J, Försti A, Hemminki K.
    • Sci Rep. 2021 Jun 11;11(1):12370. doi: 10.1038/s41598-021-90542-7.
    • Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
    • Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
    • Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
    • Fanconi Anemia.
    • Mehta PA, Ebens C.
    • 2002 Feb 14 [updated 2021 Jun 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
    • [A Case of Diagnosed Lynch Syndrome in a Patient with Ureteral Cancer].
    • Kobayashi G, Takayanagi A, Shindo T, Hashimoto K, Kobayashi K, Fukuta F, Tanaka T, Masumori N.
    • Hinyokika Kiyo. 2021 Jun;67(6):229-232. Japanese. doi: 10.14989/ActaUrolJap_67_6_229.
    • Case report. [Article in Japanese]
    • Combined modality therapy including cytoreductive surgery and heated intraperitoneal chemotherapy for synchronous low volume peritoneal carcinomatosis from adenocarcinoma of the tail of pancreas in a BRCA-2 carrier resulting in long-term disease-free survival: A case report.
    • Hoefer RA, Obiora C, Azab B, Harden EA, Kessler JF.
    • Int J Surg Case Rep. 2021 Jun;83:106047. doi: 10.1016/j.ijscr.2021.106047. Epub 2021 May 29.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
    • Rapposelli IG, Zampiga V, Cangini I, Arcangeli V, Ravegnani M, Valgiusti M, Pini S, Tamberi S, Bartolini G, Passardi A, Martinelli G, Calistri D, Frassineti GL, Falcini F, Danesi R.
    • BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.
    • Epidemiology and clinicopathological features of lung cancer in patients with prior history of breast cancer.
    • Wang KY, Newman J, Lee CS, Seetharamu N.
    • SAGE Open Med. 2021 May 25;9:20503121211017757. doi: 10.1177/20503121211017757.
    • A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer.
    • King B, McHugh J, Snape K.
    • Appl Clin Genet. 2021 May 20;14:255-266. doi: 10.2147/TACG.S261737.
    • Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
    • Massari G, Magnoni F, Favia G, Peradze N, Veronesi P, La Vecchia C, Corso G.
    • Cancers (Basel). 2021 May 12;13(10):2321. doi: 10.3390/cancers13102321.
    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
    • Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
    • Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
    • Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12.
    • Case report
    • Secondary malignancies in long-term ovarian cancer survivors: results of the 'Carolin meets HANNA' study.
    • Woopen H, Rolf C, Braicu EI, Buttmann-Schweiger N, Barnes B, Baum J, Pietzner K, Kraywinkel K, Sehouli J.
    • Int J Gynecol Cancer. 2021 May;31(5):709-712. doi: 10.1136/ijgc-2020-002155. Epub 2021 Mar 1.
    • The results of multigene panel sequencing in Slovak HBOC families.
    • Konecny M, Kosova K, Tilandyova P, Wachsmannova L, Baldovic M, Krajcovic J, Patlevicova A, Markus J, Ciernikova S.
    • Neoplasma. 2021 May;68(3):652-664. doi: 10.4149/neo_2021_201204N1307. Epub 2021 Mar 17.
    • Bayesian predictive model to assess BRCA2 mutational status according to clinical history: Early onset, metastatic phenotype or family history of breast/ovary cancer.
    • Leon P, Cancel-Tassin G, Bourdon V, Buecher B, Oudard S, Brureau L, Jouffe L, Blanchet P, Stoppa-Lyonnet D, Coulet F, Sobol H, Cussenot O.
    • Prostate. 2021 May;81(6):318-325. doi: 10.1002/pros.24109. Epub 2021 Feb 18.
    • Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.
    • Sabol RA, Ledet EM, Jaeger E, Hatton W, Moses M, Lankford A, Zaheria A, Barata P, Layton JL, Lewis BE, Sartor O.
    • Prostate. 2021 May;81(7):427-432. doi: 10.1002/pros.24120. Epub 2021 Mar 24.
    • Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.
    • Ledet EM, Burgess EF, Sokolova AO, Jaeger EB, Hatton W, Moses M, Miller P, Cotogno P, Layton J, Barata P, Lewis BE, Nakazawa M, Zhu J, Dellinger B, Elrefai S, Nafissi NN, Egan JB, Shore N, McKay RR, Bryce AH, Cheng HH, Antonarakis ES, Sartor O.
    • Prostate. 2021 May;81(7):433-439. doi: 10.1002/pros.24123. Epub 2021 Apr 1.
    • Complete pathological response to olaparib and bevacizumab in advanced cervical cancer following chemoradiation in a BRCA1 mutation carrier: a case report.
    • Montero-Macias R, Koual M, Crespel C, Le Frére-Belda MA, Hélène HB, Nguyen-Xuan HT, Garinet S, Perkins G, Balay V, Durdux C, Florin M, Péré H, Bats AS.
    • J Med Case Rep. 2021 Apr 23;15(1):210. doi: 10.1186/s13256-021-02767-9.
    • Olaparib Treatment in a Patient with Advanced Gallbladder Cancer Harboring BRCA1 Mutation.
    • Li X, Gao L, Qiu M, Cao D.
    • Onco Targets Ther. 2021 Apr 22;14:2815-2819. doi: 10.2147/OTT.S303594.
    • Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
    • Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P; NIHR BioResource, Maher ER.
    • Eur J Hum Genet. 2021 Apr 15. doi: 10.1038/s41431-021-00862-5. Epub ahead of print.
    • Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
    • Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK.
    • Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.
    • Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
    • Kondrashova O, Shamsani J, O'Mara TA, Newell F, McCart Reed AE, Lakhani SR, Kirk J, Pearson JV, Waddell N, Spurdle AB.
    • Cancers (Basel). 2021 Apr 7;13(8):1762. doi: 10.3390/cancers13081762.
    • Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.
    • Cohen PR.
    • Cureus. 2021 Apr 2;13(4):e14258. doi: 10.7759/cureus.14258.
    • Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
    • Cheah SK, Bisambar CR, Pitfield D, Giger O, Hoopen RT, Martin JE, Clark GR, Park SM, Parkinson C, Challis BG, Casey RT.
    • Endocrinol Diabetes Metab Case Rep. 2021 Apr 1;2021:EDM200196. doi: 10.1530/EDM-20-0196. Epub ahead of print.
    • Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.
    • Zhu H, Welinsky S, Soper ER, Brown KL, Abul-Husn NS, Lucas AL.
    • Pancreas. 2021 Apr 1;50(4):602-606. doi: 10.1097/MPA.0000000000001804.
    • Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
    • Power R, Leavy C, Nolan C, White N, Clarke R, Cadoo KA, Gallagher DJ, Lowery MA.
    • Fam Cancer. 2021 Apr;20(2):97-101. doi: 10.1007/s10689-020-00205-1. Epub 2020 Sep 12.
    • Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
    • Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L.
    • JNCI Cancer Spectr. 2021 Jan 23 [eCollection 2021 Apr];5(2):pkab007. doi: 10.1093/jncics/pkab007.
    • What’s Autism Got To Do With It?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Mar 27.
    • Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer.
    • Huang W, Bian J, Qian X, Shao L, Li H, Zhang L, Wang L.
    • Front Oncol. 2021 Mar 25;11:658389. doi: 10.3389/fonc.2021.658389.
    • Clinical Germline Testing Results of Men With Prostate Cancer: Patient-Level Factors and Implications of NCCN Guideline Expansion.
    • Greenberg SE, Hunt TC, Ambrose JP, Lowrance WT, Dechet CB, O'Neil BB, Tward JD.
    • JCO Precis Oncol. 2021 Mar 23;5:PO.20.00432. doi: 10.1200/PO.20.00432.
    • BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.
    • Cortesi L, Domati F, Guida A, Marchi I, Toss A, Barbieri E, Marcheselli L, Venturelli M, Piana S, Cirilli C, Federico M.
    • Cancer Biol Med. 2021 Mar 12;18(2):470–6. doi: 10.20892/j.issn.2095-3941.2020.0481. Epub ahead of print.
    • The German National Case Collection for Familial Pancreatic Carcinoma (FaPaCa) / Knowledge Gained in 20 Years.
    • Bartsch DK, Matthäi E, Mintziras I, Bauer C, Figiel J, Sina-Boemers M, Gress TM, Langer P, Slater EP.
    • Dtsch Arztebl Int. 2021 Mar 5;118(Forthcoming):arztebl.m2021.0004. doi: 10.3238/arztebl.m2021.0004. Epub ahead of print.
    • The Importance of Learning Your Pancreatic Cancer Risk When Cancer Runs in Your Family.
    • Coffin T.
    • FORCE. Blog. 2021 Mar 2.
    • Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
    • Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL.
    • Cancer Commun (Lond). 2021 Feb 25. doi: 10.1002/cac2.12134. Epub ahead of print.
    • Synchronous breast carcinoma and peritoneal mesothelioma.
    • Prathibha S, Beckwith H, Kratzke RA, Klein M, Kne A, Tuttle TM.
    • Breast J. 2021 Feb 23. doi: 10.1111/tbj.14202. Epub ahead of print.
    • Case report
    • Identification of Germline Genetic Variants that Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
    • Saunders EJ, Kote-Jarai Z, Eeles RA.
    • Cancers (Basel). 2021 Feb 12;13(4):E760. doi: 10.3390/cancers13040760.
    • The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature.
    • Asaad A, Barron M, Rasheed N, Idaewor P, Saad Abdalla Al-Zawi A.
    • Cureus. 2021 Feb 12;13(2):e13314. doi: 10.7759/cureus.13314.
    • Therapeutic Potential of Olaparib in Combination With Pembrolizumab in a Young Patient With a Maternally Inherited BRCA2 Germline Variant: A Research Report.
    • Waddington T, Mambetsariev I, Pharaon R, Fricke J, Baroz AR, Romo H, Ghanem B, Gray S, Salgia R.
    • Clin Lung Cancer. 2021 Jan 27:S1525-7304(21)00012-7. doi: 10.1016/j.cllc.2021.01.009. Epub ahead of print.
    • Case report
    • Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
    • 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.

    Related:

    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.

    Related:

    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.

    Related:

    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.
    • Int J Clin Oncol. 2020 Jun 13. doi: 10.1007/s10147-020-01721-x. Epub ahead of print.
    • Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
    • Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O'Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG.
    • J Clin Oncol. 2020 Jun 9:JCO2000046. doi: 10.1200/JCO.20.00046. Epub ahead of print.

    Related:

    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)

    • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
    • Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW.
    • Ann Surg Oncol. 2020 Jun 5. doi: 10.1245/s10434-020-08480-z. Epub ahead of print.
    • Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients.
    • Samola Winnberg J, Rudd E, Keränen A, Lagerstedt-Robinson K, Lindblom A, Nilsson M, Lindblad M, Sjödahl K.
    • Hered Cancer Clin Pract. 2020 Jun 5;18:12. doi: 10.1186/s13053-020-00145-y.
    • 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.
    • Qin N, Wang Z, Liu Q, Song N, Wilson CL, Ehrhardt MJ, Shelton K, Easton J, Mulder H, Kennetz D, Edmonson MN, Rusch MC, Downing JR, Hudson MM, Nichols KE, Zhang J, Robison LL, Yasui Y.
    • J Clin Oncol. 2020 Jun 4:JCO1902760. doi: 10.1200/JCO.19.02760. Epub ahead of print.

    Related:

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

    • The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.
    • Liu M, Liu X, Suo P, Gong Y, Qu B, Peng X, Xiao W, Li Y, Chen Y, Zeng Z, Lu Y, Huang T, Zhao Y, Liu M, Li L, Chen Y, Zhou Y, Liu G, Yao J, Chen S, Song L.
    • Transl Lung Cancer Res. 2020 Jun;9(3):646-658. doi: 10.21037/tlcr-19-403.
    • The Melanoma and Breast Cancer Association: An Overview of their 'Second Primary Cancers' and the Epidemiological, Genetic and Biological correlations.
    • Jeyakumar A, Chua T, Lam AK, Gopalan V.
    • Crit Rev Oncol Hematol. 2020 May 22;152:102989. doi: 10.1016/j.critrevonc.2020.102989. Epub ahead of print.
    • Review
    • Diagnosing hereditary cancer predisposition in men with prostate cancer.
    • Pritzlaff M, Tian Y, Reineke P, Stuenkel AJ, Allen K, Gutierrez S, Jackson M, Dolinsky JS, LaDuca H, Xu J, Black MH, Helfand BT.
    • Genet Med. 2020 May 22. doi: 10.1038/s41436-020-0830-5. Epub ahead of print.
    • Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.
    • Hur JY, Kim JY, Ahn JS, Im YH, Lee J, Kwon M, Park YH.
    • Cancers (Basel). 2020 May 21;12(5):E1306. doi: 10.3390/cancers12051306.
    • Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
    • Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR.
    • Cancers (Basel). 2020 May 20;12(5):E1289. doi: 10.3390/cancers12051289.
    • Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
    • Tennen RI, Laskey SB, Koelsch BL, McIntyre MH, Tung JY.
    • Sci Rep. 2020 May 6;10(1):7669. doi: 10.1038/s41598-020-63466-x.
    • Detection of germline variants using expanded multigene panels in patients with localized pancreatic cancer.
    • Krepline AN, Geurts JL, Akinola I, Christians KK, Clarke CN, George B, Ritch PS, Khan AH, Hall WA, Erickson BA, Griffin MO, Evans DB, Tsai S.
    • HPB (Oxford). 2020 Apr 27. pii: S1365-182X(20)30109-X. doi: 10.1016/j.hpb.2020.03.022. [Epub ahead of print]
    • Psammoma bodies in Papanicolaou tests and associated factors to predict an underlying malignancy: a clinicopathological analysis of 10 cases.
    • Ersoy E, Kashikar RM.
    • J Am Soc Cytopathol. 2020 Apr 11. pii: S2213-2945(20)30059-4. doi: 10.1016/j.jasc.2020.04.002. [Epub ahead of print]
    • Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
    • Aronson M, Swallow C, Govindarajan A, Semotiuk K, Cohen Z, Kaurah P, Velsher L, Ambus I, Buckley K, Forster-Gibson C, Meschino WS, Blumenthal A, Kim RH, Brar S.
    • Curr Oncol. 2020 Apr;27(2):e182-e190. doi: 10.3747/co.27.5663. Epub 2020 May 1.
    • Characteristics of early-onset pancreatic cancer and its association with familial pancreatic cancer and hereditary pancreatic cancer syndromes.
    • Eguchi H, Kobayashi S, Gotoh K, Noda T, Doki Y.
    • Ann Gastroenterol Surg. 2020 Mar 27;4(3):229-233. doi: 10.1002/ags3.12326.
    • BRCA1 and VDR gene polymorphisms are associated with prostate cancer risk in Mexican men.
    • Martínez-Nava GA, Gómez R, Burguete-García AI, Vázquez-Salas RA, Ventura-Bahena A, Torres-Sánchez L.
    • Mol Carcinog. 2020 Mar 26. doi: 10.1002/mc.23187. [Epub ahead of print]
    • Risk of Prostate Cancer Associated With Familial and Hereditary Cancer Syndromes.
    • Beebe-Dimmer JL, Kapron AL, Fraser AM, Smith KR, Cooney KA.
    • J Clin Oncol. 2020 Mar 24:JCO1902808. doi: 10.1200/JCO.19.02808. [Epub ahead of print]
    • Evaluating Family History Links between Breast Cancer and Prostate Cancer Among PLCO Trial Participants.
    • Abdel-Rahman O.
    • Clin Breast Cancer. 2020 Mar 20. pii: S1526-8209(20)30061-6. doi: 10.1016/j.clbc.2020.03.005. [Epub ahead of print]
    • Complete Response to Chemotherapy in Metastatic Pancreatic Carcinoma Associated with Double Heterozygous Germline Mutation in BRCA2 and CHEK2 Genes - a Case Report.
    • Pazderová N, Urbán V, Makovník M, Macák D, Janega P, Chovanec M, Rejleková K, Mardiak J, Mego M.
    • Klin Onkol. 2020 Spring;33(3):220-225. English. doi: 10.14735/amko2020220.
    • A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
    • Earl J, Galindo-Pumariño C, Encinas J, Barreto E, Castillo ME, Pachón V, Ferreiro R, Rodríguez-Garrote M, González-Martínez S, Ramon Y Cajal T, Diaz LR, Chirivella-Gonzalez I, Rodriguez M, de Castro EM, García-Seisdedos D, Muñoz G, Rosa JMR, Marquez M, Malats N, Carrato A.
    • EBioMedicine. 2020 Mar;53:102675. doi: 10.1016/j.ebiom.2020.102675. Epub 2020 Feb 27.

    Related:

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

    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]
    • Breast cancer suspected to originate from familial hereditary tumors: A case report.
    • Yamamoto S, Chishima T, Sugae S, Shibata Y, Yamada A.
    • Clin Case Rep. 2020 Feb 8;8(4):648-652. doi: 10.1002/ccr3.2698. eCollection 2020 Apr.
    • Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.
    • Reijnen C, Küsters-Vandevelde HVN, Ligtenberg MJL, Bulten J, Oosterwegel M, Snijders MPLM, Sweegers S, de Hullu JA, Vos MC, van der Wurff AAM, van Altena AM, Eijkelenboom A, Pijnenborg JMA.
    • Int J Cancer. 2020 Feb 5. doi: 10.1002/ijc.32907. [Epub ahead of print]
    • Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy.
    • Pellini F, Granuzzo E, Urbani S, Mirandola S, Caldana M, Lombardi D, Fiorio E, Mandarà M, Pollini GP.
    • Breast Care (Basel). 2020 Feb;15(1):14-20. doi: 10.1159/000501711. Epub 2019 Sep 13.
    • Sessile Serrated Polyposis: Not an Inherited Syndrome?
    • Cauley CE, Hassab TH, Feinberg A, Church J.
    • Dis Colon Rectum. 2020 Feb;63(2):183-189. doi: 10.1097/DCR.0000000000001537.
    • Risk of specific types of ovarian cancer after borderline ovarian tumors in Denmark: a nationwide-based study.
    • Hannibal CG, Frederiksen K, Vang R, Kurman RJ, Kjaer SK.
    • Int J Cancer. 2020 Jan 12. doi: 10.1002/ijc.32864. [Epub ahead of print]
    • 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. 2020 Jan;77(1):24-35. doi: 10.1016/j.eururo.2019.08.025. Epub 2019 Sep 6.

    Related:

    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?

    • Brief Report: Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.
    • Guo R, DuBoff M, Jayakumaran G, Kris MG, Ladanyi M, Robson ME, Mandelker D, Zauderer MG.
    • J Thorac Oncol. 2019 Dec 27. pii: S1556-0864(19)33852-3. doi: 10.1016/j.jtho.2019.12.111. [Epub ahead of print]
    • Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Pancreatic Cancer Patients.
    • Goldstein JB, Zhao L, Wang X, Ghelman Y, Overman MJ, Javle M, Shroff RT, Varadhachary GR, Wolf RA, McAllister F, Futreal PA, Fogelman DR.
    • Clin Cancer Res. 2019 Dec 23. pii: clincanres.0224.2019. doi: 10.1158/1078-0432.CCR-19-0224. [Epub ahead of print]
    • Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
    • Dhir A, Li R, Li G, Dean J, Robin NH, Alva E.
    • Pediatr Blood Cancer. 2019 Dec 18:e28116. doi: 10.1002/pbc.28116. [Epub ahead of print]
    • Case report
    • 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.
    • Common Germline Mutations in a Patient With Multiple Primary Lung Cancers.
    • Cytryn S, Moreira A, Chachoua A, Sabari J.
    • Clin Lung Cancer. 2019 Nov 21. pii: S1525-7304(19)30322-5. doi: 10.1016/j.cllc.2019.11.005. [Epub ahead of print]
    • Case report
    • Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
    • Abdel-Rahman MH, Sample KM, Pilarski R, Walsh T, Grosel T, Kinnamon D, Boru G, Massengill JB, Schoenfield L, Kelly B, Gordon D, Johansson P, DeBenedictis MJ, Singh A, Casadei S, Davidorf FH, White P, Stacey AW, Scarth J, Fewings E, Tischkowitz M, King MC, Hayward NK, Cebulla CM.
    • Ophthalmology. 2019 Nov 18. pii: S0161-6420(19)32274-2. doi: 10.1016/j.ophtha.2019.11.009. [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.
    • 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.
    • Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers.
    • Matsubayashi H, Kiyozumi Y, Ishiwatari H, Uesaka K, Kikuyama M, Ono H.
    • Diagnostics (Basel). 2019 Oct 31;9(4). pii: E169. doi: 10.3390/diagnostics9040169.
    • Invasive bilateral breast cancer and high grade serous ovarian cancer with BRCA1-germline mutation and brainstem metastasis under PARP inhibitors.
    • Zahari MM, Chiorean AR, Duma MM, Ungureanu A, Kacso G.
    • Arch Clin Cases. 2021 [2019?] Oct 27;6(3):69-75. doi: 10.22551/2019.24.0603.10156.
    • Dramatic response of FOLFIRINOX regimen in a collision pancreatic adenocarcinoma patient with a germline BRCA2 mutation: a case report.
    • Shimmura H, Kuramochi H, Jibiki N, Katagiri S, Nishino T, Araida T.
    • Jpn J Clin Oncol. 2019 Oct 15. pii: hyz141. doi: 10.1093/jjco/hyz141. [Epub ahead of print]
    • Case report
    • 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
    • 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.
    • 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.

    Related:

    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]
    • Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
    • Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Gebre-Medhin S, Nordling M, Peltomäki P.
    • Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21.
    • 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.
    • 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]

    Related:

    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]

    Related:

    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.
    • Germline and Somatic DNA Damage Repair Gene Mutations and Overall Survival in Metastatic Pancreatic Adenocarcinoma Patients Treated with FOLFIRINOX.
    • Sehdev A, Gbolahan O, Hancock BA, Stanley M, Shahda S, Wan J, Wu HH, Radovich M, O'Neil BH.
    • Clin Cancer Res. 2018 Dec 15;24(24):6204-6211. doi: 10.1158/1078-0432.CCR-18-1472. Epub 2018 Aug 21.
    • A Linkage Between Thyroid and Breast Cancer: A Common Etiology?
    • Bolf EL, Sprague BL, Carr FE.
    • Cancer Epidemiol Biomarkers Prev. 2018 Dec 12. doi: 10.1158/1055-9965.EPI-18-0877. [Epub ahead of print]
    • CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.
    • Luo W, Fedda F, Lynch P, Tan D.
    • Front Pharmacol. 2018 Dec 5;9:1421. doi: 10.3389/fphar.2018.01421. eCollection 2018.
    • Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.
    • Rizzolo P, Silvestri V, Bucalo A, Zelli V, Valentini V, Catucci I, Zanna I, Masala G, Bianchi S, Spinelli AM, Tommasi S, Tibiletti MG, Russo A, Varesco L, Coppa A, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Radice P, Palli D, Peterlongo P, Ottini L.
    • Front Oncol. 2018 Dec 4;8:583. doi: 10.3389/fonc.2018.00583. eCollection 2018.
    • Borderline Ovarian Tumors Share Familial Risks with Themselves and Invasive Cancers.
    • Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K.
    • Cancer Epidemiol Biomarkers Prev. 2018 Nov;27(11):1358-1363. doi: 10.1158/1055-9965.EPI-18-0503. Epub 2018 Jul 17.
    • Familial risks of second primary cancers and mortality in ovarian cancer patients.
    • Zheng G, Chattopadhyay S, Försti A, Sundquist K, Hemminki K.
    • Clin Epidemiol. 2018 Oct 11;10:1457-1466. doi: 10.2147/CLEP.S174173. eCollection 2018.
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
    • PLoS One. 2018 Oct 4;13(10):e0204768. doi: 10.1371/journal.pone.0204768. eCollection 2018.
    • Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer.
    • Macklin SK, Kasi PM, Jackson JL, Hines SL.
    • Front Oncol. 2018 Aug 21;8:330. doi: 10.3389/fonc.2018.00330. eCollection 2018.
    • Second primary cancer after primary peritoneal, epithelial ovarian, and fallopian tubal cancer: a retrospective study.
    • Lim MC, Won YJ, Lim J, Salehi T, Yoo CW, Bristow RE.
    • BMC Cancer. 2018 Aug 8;18(1):800. doi: 10.1186/s12885-018-4700-3.
    • Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
    • Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.
    • Family history of breast or prostate cancer and prostate cancer risk.
    • Barber LE, Gerke T, Markt SC, Peisch SF, Wilson KM, Ahearn TU, Giovannucci EL, Parmigiani G, Mucci LA.
    • Clin Cancer Res. 2018 Aug 6. pii: clincanres.0370.2018. doi: 10.1158/1078-0432.CCR-18-0370. [Epub ahead of print]
    • Familial Ovarian Cancer Clusters with Other Cancers.
    • Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K.
    • Sci Rep. 2018 Aug 1;8(1):11561. doi: 10.1038/s41598-018-29888-4.
    • The resounding effect of DNA repair deficiency in prostate cancer.
    • Cheng HH.
    • Urol Oncol. 2018 Aug;36(8):385-388. doi: 10.1016/j.urolonc.2018.02.014. Epub 2018 Mar 17.
    • Review
    • Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
    • Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.
    • Ichikawa H, Wakai T, Nagahashi M, Shimada Y, Hanyu T, Kano Y, Muneoka Y, Ishikawa T, Takizawa K, Tajima Y, Sakata J, Kobayashi T, Kemeyama H, Yabusaki H, Nakagawa S, Sato N, Kawasaki T, Homma K, Okuda S, Lyle S, Takabe K.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00097. Epub 2018 Jul 5.
    • Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status.
    • Antwi SO, Fagan SE, Chaffee KG, Bamlet WR, Hu C, Polley EC, Hart SN, Shimelis H, Lilyquist J, Gnanaolivu RD, McWilliams RR, Oberg AL, Couch FJ, Petersen GM.
    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
    • Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
    • Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.
    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Related:

    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.
    • Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.
    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Related:

    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)

    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • 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.
    • Family history of breast cancer increases the risk of prostate cancer: results from the EPICAP study.
    • Lamy PJ, Trétarre B, Rebillard X, Sanchez M, Cénée S, Ménégaux F.
    • Oncotarget. 2018 May 4;9(34):23661-23669. doi: 10.18632/oncotarget.25320. eCollection 2018 May 4.
    • Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
    • Augustinsson A, Ellberg C, Kristoffersson U, Borg Å, Olsson H.
    • Acta Oncol. 2018 May;57(5):595-603. doi: 10.1080/0284186X.2017.1404635. Epub 2017 Nov 22.
    • 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.
    • 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.
    • 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.
    • Does Endometriosis Hinder Successful Ovarian Debulking Surgery?
    • Sananpanichkul P, Muangtan S, Suknikhom W, Bhamarapravatana K, Suwannarurk K.
    • Asian Pac J Cancer Prev. 2018 Feb 26;19(2):509-512.
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
    • PLoS Genet. 2018 Feb 15;14(2):e1007194. doi: 10.1371/journal.pgen.1007194. eCollection 2018 Feb.
    • Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing.
    • Lee K, Yoo C, Kim , Park KJ, Chang HM, Kim TW, Lee JL, Lee W, Lee SS, Park DH, Song TJ, Seo DW, Lee SK, Kim MH, Shin SH, Hwang DW, Song KB, Lee JH, Kim SC, Ryoo BY.
    • Invest New Drugs. 2018 Feb;36(1):163-169. doi: 10.1007/s10637-017-0497-1. Epub 2017 Aug 7.
    • Inherited factors contribute to an inverse association between preeclampsia and breast cancer.
    • Yang H, He W, Eriksson M, Li J, Holowko N, Chiesa F, Hall P, Czene K.
    • Breast Cancer Res. 2018 Jan 23;20(1):6. doi: 10.1186/s13058-017-0930-6.
    • 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.
    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    • Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.
    • Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.
    • Familial associations of female breast cancer with other cancers.
    • Zheng G, Yu H, Hemminki A, Försti A, Sundquist K, Hemminki K.
    • Int J Cancer. 2017 Dec 1;141(11):2253-2259. doi: 10.1002/ijc.30927. Epub 2017 Aug 26.
    • 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.
    • 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.
    • Dermatomyositis - key to diagnosing ovarian cancer, monitoring treatment and detecting recurrent disease: Case report.
    • Field C, Goff BA.
    • Gynecol Oncol Rep. 2017 Nov 28;23:1-3. doi: 10.1016/j.gore.2017.11.009. eCollection 2018 Feb.
    • Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.
    • Crobach S, Jansen AML, Ligtenberg MJL, Koopmans M, Nielsen M, Hes FJ, Wijnen JT, Dinjens WNM, van Wezel T, Morreau H.
    • Fam Cancer. 2017 Nov 9. doi: 10.1007/s10689-017-0055-1. [Epub ahead of print]
    • 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.
    • 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.

    Related:

    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.
    • Dursun D, Aktaş S, Altun Z, Olgun N.
    • Eur J Breast Health. 2017 Oct 1;13(4):213-215. doi: 10.5152/ejbh.2017.3105. eCollection 2017 Oct.
    • GATA2 gene analysis in several forms of hematological malignancies including familial aggregations.
    • Hamadou WS, Mani R, Besbes S, Bourdon V, Youssef YB, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z.
    • 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.
    • 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.
    • 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.
    • Semin Oncol. 2017 Aug;44(4):267-272. doi: 10.1053/j.seminoncol.2017.11.002. Epub 2017 Nov 9.
    • 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. 2017 May 4;1:PO.16.00039. doi: 10.1200/PO.16.00039.

    Related:

    Commentary:

    Genetic Testing for Prostate Cancer in Clinical Practice.

    • 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.
    • 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.
    • Familial Associations Between Prostate Cancer and Other Cancers.
    • Frank C, Sundquist J, Hemminki A, Hemminki K.
    • Eur Urol. 2017 Feb;71(2):162-165. doi: 10.1016/j.eururo.2016.07.031. Epub 2016 Aug 4.
    • Beyond BRCA: Hereditary Diffuse Gastric Cancer Syndrome and CDH1 Mutations.
    • [No author given]
    • My Gene Counsel. 2016 Nov 22.
    • Germline mutations in Japanese familial pancreatic cancer patients.
    • Takai E, Yachida S, Shimizu K, Furuse J, Kubo E, Ohmoto A, Suzuki M, Hruban RH, Okusaka T, Morizane C, Furukawa T.
    • 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.
    • Medicine (Baltimore). 2016 Sep;95(36):e4756. doi: 10.1097/MD.0000000000004756.
    • 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.
    • Importance of hereditary and selected environmental risk factors in the etiology of inflammatory breast cancer: a case-comparison study.
    • Moslehi R, Freedman E, Zeinomar N, Veneroso C, Levine PH.
    • BMC Cancer. 2016 May 26;16(1):334. doi: 10.1186/s12885-016-2369-z.
    • Family History of Cancer in Relation to Breast Cancer Subtypes in African American Women.
    • Bethea TN, Rosenberg L, Castro-Webb N, Lunetta KL, Sucheston-Campbell LE, Ruiz-Narváez EA, Charlot M, Park SY, Bandera EV, Troester MA, Ambrosone CB, Palmer JR.
    • Cancer Epidemiol Biomarkers Prev. 2016 Feb;25(2):366-73. doi: 10.1158/1055-9965.EPI-15-1068. Epub 2015 Dec 31.
    • 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.
    • Fam Cancer. 2016 Jan;15(1):41-7. doi: 10.1007/s10689-015-9833-9.
    • 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
    • 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.
    • PanGen-Fam: Spanish registry of hereditary pancreatic cancer.
    • Mocci E, Guillen-Ponce C, Earl J, Marquez M, Solera J, Salazar-López MT, Calcedo-Arnáiz C, Vázquez-Sequeiros E, Montans J, Muñoz-Beltrán M, Vicente-Bártulos A, González-Gordaliza C, Sanjuanbenito A, Guerrero C, Mendía E, Lisa E, Lobo E, Martínez JC, Real FX, Malats N, Carrato A.
    • 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.
    • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.
    • Gastroenterology. 2015 Sep;149(3):604-613.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

    Related:

    Editorial:

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

    • Fibroadenoma with an unexpected lobular carcinoma in situ: A case report and review of the literature.
    • Hua B, Xu JY, Jiang L, Wang Z.
    • Oncol Lett. 2015 Sep;10(3):1397-1401. Epub 2015 Jul 14.
    • BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
    • Zhen DB, Rabe KG, Gallinger S, Syngal S, Schwartz AG, Goggins MG, Hruban RH, Cote ML, McWilliams RR, Roberts NJ, Cannon-Albright LA, Li D, Moyes K, Wenstrup RJ, Hartman AR, Seminara D, Klein AP, Petersen GM.
    • Genet Med. 2015 Jul 2;17(7):569-577. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.
    • 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.

    Related:

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

    • Close-familial prostate cancer might increase risk of breast cancer.
    • [No author given]
    • Nurs Stand. 2015 Mar 18;29(29):14. doi: 10.7748/ns.29.29.14.s15.
    • News
    • Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.
    • Grant RC, Selander I, Connor AA, Selvarajah S, Borgida A, Briollais L, Petersen GM, Lerner-Ellis J, Holter S, Gallinger S.
    • Gastroenterology. 2015 Mar;148(3):556-64. doi: 10.1053/j.gastro.2014.11.042. Epub 2014 Dec 2.

    Related:

    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.
    • J Cancer Educ. 2015 Mar;30(1):167-72. doi: 10.1007/s13187-014-0663-5.
    • Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.
    • Ławniczak M, Jakubowska A, Białek A, Karpińska-Kaczmarczyk K, Lubiński J, Starzyńska T.
    • Pol Arch Med Wewn. 2015 Feb 27;125(1-2):39-45. Epub 2015 Dec 23.
    • 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.
    • 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

    Related:

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

    Source

    • Risk of breast cancer and family history of other cancers in first-degree relatives in Chinese women: a case control study.
    • Zhou W, Ding Q, Pan H, Wu N, Liang M, Huang Y, Chen L, Zha X, Liu X, Wang S.
    • BMC Cancer. 2014 Sep 11;14:662. doi: 10.1186/1471-2407-14-662.
    • Is there a link between ovarian cancer and tooth agenesis?
    • Bonds J, Pollan-White S, Xiang L, Mues G, D'Souza R.
    • Eur J Med Genet. 2014 Apr;57(5):235-9. doi: 10.1016/j.ejmg.2014.02.013. Epub 2014 Mar 12.
    • Risk of nonsyndromic cleft lip and palate in relatives of women with breast cancer.
    • Martelli DR, Vieira AR, Fonseca AT, Coletta RD, Soares PB, Martelli-Júnior H.
    • Am J Med Genet A. 2014 Jan;164(1):270-1. doi: 10.1002/ajmg.a.36186. Epub 2013 Nov 20.
    • Risk of malignancy associated with a maternal family history of cancer.
    • Liu J, Shu T, Chang S, Sun P, Zhu H, Li H.
    • Asian Pac J Cancer Prev. 2014;15(5):2039-44.
    • Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.
    • Mocci E, Milne RL, Méndez-Villamil EY, Hopper JL, John EM, Andrulis IL, Chung WK, Daly M, Buys SS, Malats N, Goldgar DE.
    • Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):803-11. doi: 10.1158/1055-9965.EPI-12-0195. Epub 2013 Mar 1.
    • 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.
    • Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.
    • Stadler ZK, Salo-Mullen E, Patil SM, Pietanza MC, Vijai J, Saloustros E, Hansen NA, Kauff ND, Kurtz RC, Kelsen DP, Offit K, Robson ME.
    • Cancer. 2012 Jan 15;118(2):493-9. doi: 10.1002/cncr.26191. Epub 2011 May 19.