Breast cancer

Citations 1-10 of 178 total displayed.

Original articles
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery

D Furniss, S-h Kan, I B Taylor, D Johnson, P S Critchley, H P Giele, A O M Wilkie
J. Med. Genet. 2009 46: 730 -735; published online before print as 10.1136/jmg.2009.066027 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li–Fraumeni syndrome: impact on age at first diagnosis

V Marcel, E I Palmero, P Falagan-Lotsch, G Martel-Planche, P Ashton-Prolla, M Olivier, R R Brentani, P Hainaut, M I Achatz
J. Med. Genet. 2009 46: 766 -772; published online before print as 10.1136/jmg.2009.066704 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
High frequency of de novo mutations in Li–Fraumeni syndrome

K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, S S Sommer
J. Med. Genet. 2009 46: 689 -693; published online before print as 10.1136/jmg.2008.058958 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Evaluation of a surveillance programme for women with a family history of breast cancer

M M Reis, M Tavakoli, J Dewar, D Goudie, A Cook, L McLeish, D Young, J Kenyon, M Steel
J. Med. Genet. 2009 46: 319 -323; published online before print as 10.1136/jmg.2008.064311 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

T Schwarzbraun, A C Obenauf, A Langmann, U Gruber-Sedlmayr, K Wagner, M R Speicher, P M Kroisel
J. Med. Genet. 2009 46: 341 -344; published online before print as 10.1136/jmg.2008.064972 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Germline mutation of microRNA-125a is associated with breast cancer

W Li, R Duan, F Kooy, S L Sherman, W Zhou, P Jin
J. Med. Genet. 2009; 46: 358-360. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Risk reducing mastectomy: outcomes in 10 European centres

D G R Evans, A D Baildam, E Anderson, A Brain, A Shenton, H F A Vasen, D Eccles, A Lucassen, G Pichert, H Hamed, P Moller, L Maehle, P J Morrison, D Stoppat-Lyonnet, H Gregory, E Smyth, D Niederacher, C Nestle-Krämling, J Campbell, P Hopwood, F Lalloo, A Howell
J. Med. Genet. 2009 46: 254 -258; published online before print as 10.1136/jmg.2008.062232 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations

C Cybulski, B Górski, T Huzarski, T Byrski, J Gronwald, T Debniak, D Wokolorczyk, A Jakubowska, P Serrano-Fernández, T Dork, S A Narod, J Lubinski
J. Med. Genet. 2009 46: 132 -135; published online before print as 10.1136/jmg.2008.061697 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women

K Y-K Chan, W Liu, J-R Long, S-P Yip, S-Y Chan, X-O Shu, D T-T Chua, A N-Y Cheung, J C-Y Ching, H Cai, G K-H Au, M Chan, W Foo, H Y-S Ngan, Y-T Gao, E S-W Ngan, M-M Garcia-Barceló, Wei Zheng, U-S Khoo
J. Med. Genet. 2009 46: 32 -39; published online before print as 10.1136/jmg.2007.057174 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Mutation report
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma

A Russell-Swetek, A N West, J E Mintern, J Jenkins, C Rodriguez-Galindo, R Ribeiro, G P Zambetti
J. Med. Genet. 2008; 45: 603-606. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]