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Items: 1 to 20 of 86

1.

Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma.

Heitzer E, Lax S, Lafer I, Müller SM, Pristauz G, Ulz P, Jahn S, Högenauer C, Petru E, Speicher MR, Geigl JB.

BMC Med Genet. 2013 Dec 29;14:129. doi: 10.1186/1471-2350-14-129.

2.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG.

JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. Erratum in: JAMA Oncol. 2015 Apr;1(1):110.

PMID:
26182300
3.

Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

Yang X, Wu J, Lu J, Liu G, Di G, Chen C, Hou Y, Sun M, Yang W, Xu X, Zhao Y, Hu X, Li D, Cao Z, Zhou X, Huang X, Liu Z, Chen H, Gu Y, Chi Y, Yan X, Han Q, Shen Z, Shao Z, Hu Z.

PLoS One. 2015 Apr 30;10(4):e0125571. doi: 10.1371/journal.pone.0125571. eCollection 2015.

4.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

5.

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

van der Post RS, Vogelaar IP, Manders P, van der Kolk LE, Cats A, van Hest LP, Sijmons R, Aalfs CM, Ausems MG, Gómez García EB, Wagner A, Hes FJ, Arts N, Mensenkamp AR, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ.

Gastroenterology. 2015 Oct;149(4):897-906.e19. doi: 10.1053/j.gastro.2015.06.003. Epub 2015 Jun 11.

PMID:
26072394
6.

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.

Yang L, Wang G, Zhao X, Ye S, Shen P, Wang W, Zheng S.

PLoS One. 2015 Aug 4;10(8):e0133020. doi: 10.1371/journal.pone.0133020. eCollection 2015.

7.

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Arcand SL, Akbari MR, Mes-Masson AM, Provencher D, Foulkes WD, Narod SA, Tonin PN.

BMC Med Genet. 2015 Apr 12;16:24. doi: 10.1186/s12881-015-0169-y.

8.

Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry.

Yurgelun MB, Masciari S, Joshi VA, Mercado RC, Lindor NM, Gallinger S, Hopper JL, Jenkins MA, Buchanan DD, Newcomb PA, Potter JD, Haile RW, Kucherlapati R, Syngal S; Colon Cancer Family Registry.

JAMA Oncol. 2015 May;1(2):214-21.

9.

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.

Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, Caldas C.

Hum Mutat. 2002 May;19(5):510-7.

PMID:
11968083
10.

CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer.

Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM.

Ann Surg. 2007 Jun;245(6):873-9.

11.

Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.

Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.

PMID:
26681682
12.

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.

BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.

13.

Discriminating functional and non-functional p53 in human tumours by p53 and MDM2 immunohistochemistry.

Nenutil R, Smardova J, Pavlova S, Hanzelkova Z, Muller P, Fabian P, Hrstka R, Janotova P, Radina M, Lane DP, Coates PJ, Vojtesek B.

J Pathol. 2005 Nov;207(3):251-9.

PMID:
16161005
14.

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.

15.

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.

J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.

PMID:
26786923
16.

Disparate genomic characteristics of concurrent endometrial adenocarcinoma and ovarian granulosa cell tumor, revealed by targeted next-generation sequencing.

Choi YJ, Ho J, Lee A, Hur SY, Park HC, Park JS, Chung YJ, Lee SH.

Pathol Res Pract. 2018 Aug;214(8):1231-1233. doi: 10.1016/j.prp.2018.06.009. Epub 2018 Jun 19.

PMID:
29937308
17.

Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

Catts ZA, Baig MK, Milewski B, Keywan C, Guarino M, Petrelli N.

Ann Surg Oncol. 2016 May;23(5):1729-35. doi: 10.1245/s10434-015-5026-x. Epub 2016 Jan 4.

PMID:
26727920
18.

[Germline mutations of TP53 gene among Chinese families with high risk for breast cancer].

Yang X, Hu Z, Wu J, Liu G, Di G, Chen C, Hou Y, Huang X, Liu Z, Shen Z, Shao Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):761-5. doi: 10.3760/cma.j.issn.1003-9406.2015.06.001. Chinese.

PMID:
26663043
19.

Germline E-cadherin mutations in familial lobular breast cancer.

Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, Harris LN, Pinheiro HC, Troussard A, Miron P, Tung N, Oliveira C, Collins L, Schnitt S, Garber JE, Huntsman D.

J Med Genet. 2007 Nov;44(11):726-31. Epub 2007 Jul 27.

20.

Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.

Molinaro V, Pensotti V, Marabelli M, Feroce I, Barile M, Pozzi S, Laghi L, Serrano D, Bernard L, Bonanni B, Ranzani GN.

Genes Chromosomes Cancer. 2014 May;53(5):432-45. doi: 10.1002/gcc.22155. Epub 2014 Feb 3.

PMID:
24493355

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