Results 21 to 30 of about 44,727 (269)

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. [PDF]

, 2002
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist.
P D P Pharoah, D F Easton, Peto, J, J Peto, Stratton, MR, Day, NE, McMullan, G, Antoniou, AC, Easton, DF, N E Day, M R Stratton, A C Antoniou, Pharoah, PDP, B J Ponder, Ponder, BJ, G McMullan   +15 more
core   +1 more source

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

PLoS ONE, 2012
IntroductionGermline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low ...
Audrey Rouault, Guillaume Banneau, Gaëtan Macgrogan, Natalie Jones, Nabila Elarouci, Emmanuelle Barouk-Simonet, Laurence Venat, Isabelle Coupier, Eric Letouzé, Aurélien de Reyniès, Françoise Bonnet, Richard Iggo, Nicolas Sévenet, Michel Longy   +13 more
doaj   +1 more source

Identification of the breast cancer susceptibility gene BRCA2 [PDF]

Nature, 1995
In Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease.
Richard Wooster, Graham Bignell, Jonathan Lancaster, Sally Swift, Sheila Seal, Jonathan Mangion, Nadine Collins, Simon Gregory, Curtis Gumbs, Gos Micklem, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Catherine Rices, Patrick Biggs, Yasmin Hashim, Amanda Smith, Frances Connor, Adalgeir Arason, Julius Gudmundsson, David Ficenec, David Kelsell, Deborah Ford, Patricia Tonin, D. Timothy Bishop, Nigel K. Spurr, Bruce A. J. Ponder, Rosalind Eeles, Julian Peto, Peter Devilee, Cees Cornelisse, Henry Lynch, Steven Narod, Gilbert Lenoir, Valdgardur Egilsson, Rosa Bjork Barkadottir, Douglas F. Easton, David R. Bentley, P. Andrew Futreal, Alan Ashworth, Michael R. Stratton   +40 more
openaire   +2 more sources

Role of Single Nucleotide Polymorphisms in BRCA1 and BRCA2 Genes Relative to Previous Studies in Pakistan in the Prognosis of Breast Cancer [PDF]

Journal of Liaquat National Hospital
Breast cancer is a complex disease characterized by a myriad of genetic alterations. Single nucleotide polymorphisms are particularly relevant due to small allelic variations.
Saba Munir, Yasir Nawaz, Fouzia Tanvir, Maria Akram, Muhammad Luqman, Javaria Zafar, Muhammad Zaman   +6 more
doaj   +1 more source

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers [PDF]

, 2012
<p>Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele.
Susan M Domchek, Frost, D., Beesley, Jonathan, Beesley, J., Jonathan Beesley, Couch, Fergus J, Samarajiwa, S., Caligo, Maria A., Ponder, Bruce A. J., Barkardottir, Rosa B., Ponder, Bruce AJ, Caligo, Maria, Adelaide, Sue Healey, Swe-brca, Swe-brca, Easton, Douglas F, Adlard, Julian, Barkardottir, Rosa B, Embrace, Embrace, Peock, Susan, Domchek, Susan, Gauthier-Villars, Marion, Heli Nevanlinna, Godwin, Andrew, null null, Xiaoqing Chen, Caligo, Maria,, Laurence Faivre, Sinilnikova, Olga M, Domchek, Susan M., Domchek, Susan M, Samarajiwa, Shamith, Georgia Chenevix-Trench, O'Reilly, M., Barkardottir, R.B., Mark Dunning, Evans, D,, Evans, D.G., Chen, Xiaoqing, Godwin, Andrew K, Couch, Fergus, Ponder, Bruce, Carlos Caldas, Debra Frost, Evans, D. G.; id_orcid, Curtis, Christina, Kartsonaki, C., Eccles, Diana, Nevanlinna, Heli, Einbeigi, Zakaria,, Nevanlinna, H., Izatt, Louise, Healey, S., Caldas, Carlos, McGuffog, Lesley, Evans, D, Gareth, Peock, S., Martin O'Reilly, Evans, D Gareth, Christiana Kartsonaki, Laurence Venat-Bouvet, Ponder, Bruce A.J., Diana Eccles, Adlard, J., Faivre, L., Mazoyer, Sylvie, Olga M Sinilnikova, Antoniou, A.C., Kartsonaki, Christiana, Venat-Bouvet, Laurence, Susan Peock, Louise Izatt, Rosa B Barkardottir, Easton, Douglas, Delnatte, C., McGuffog, L., Tobias, E.S., Julian Adlard, Chenevix-Trench, Georgia, Frost, Debra, Easton, Douglas F., Curtis, Christina N, Antoniou, Antonis, Suet-Feung Chin, Barkardottir, Rosa, Marion Gauthier-Villars, Venat-Bouvet, L., Godwin, A.K., Lesley McGuffog, Caligo, Maria-Adelaide, Couch, Fergus J., Antoniou, Antonis C, Christina N Curtis, Chin, Suet-Feung, Antoniou, Antonis C., Caligo, M.A., Gemo, Gemo, Couch, F.J., Sylvie Mazoyer, Sinilnikova, Olga, Andrew K Godwin, Stoppa-Lyonnet, D., Caligo, Maria Adelaide, Bruce AJ Ponder, Eeles, R., Chin, Suet Feung, Ponder, Bruce A J, D Gareth Evans, Eccles, D., Chen, X., Chin, S.F., O'Reilly, Martin, Capucine Delnatte, Ana-Teresa Maia, Easton, D.F., Delnatte, Capucine, Douglas F Easton, Dunning, M., Godwin, Andrew K., Maria Adelaide Caligo, Ros Eeles, Chenevix-Trench, G., Caldas, C., Domchek, S.M., Antonis C Antoniou, Curtis, C.N., Sinilnikova, O.M., Curtis, Christina N., Ponder, B.A.J., Sinilnikova, Olga M., Mazoyer, S., Eeles, Ros, Dunning, Mark, Dominique Stoppa-Lyonnet, Maia, A.T., Faivre, Laurence, Gauthier-Villars, M., Healey, Sue, kConFab, kConFab, Maia, Ana-Teresa, Stoppa-Lyonnet, Dominique, Shamith Samarajiwa, Fergus J Couch, Evans, D. Gareth, Izatt, L., Maia, Ana Teresa   +144 more
core   +1 more source

BRCA1/2 Expression Patterns in Different Grades of Oral Squamous Cell Carcinoma [PDF]

Middle East Journal of Cancer, 2020
Background: Oral squamous cell carcinoma (OSCC) is the sixth most common cancer worldwide and has a poor prognosis. The breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are the key tumor suppressor genes responding in the cases of DNA damage ...
Soussan Irani, Mitra Rafizadeh
doaj   +1 more source

BRCA1 and BRCA2 as ovarian cancer susceptibility genes [PDF]

Carcinogenesis, 2005
Individuals carrying germline mutations in one allele of the BRCA1 or BRCA2 genes are at significantly increased risk of developing cancer. Although the increased risk of breast cancer is often highlighted, cancer at several other sites is also considerably more common in these individuals.
Heidi M, Sowter, Alan, Ashworth
openaire   +2 more sources

Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma

Scientific Reports, 2018
Mutations in genes of the breast cancer susceptibility gene (BRCA) pathway, namely, BRCA1, BRCA2, and PALB2, can provide useful information for the efficacy of platinum-based or poly ADP-ribose polymerase inhibitors chemotherapeutic regimens.
Shoko Takeuchi, Manami Doi, Naoki Ikari, Masakazu Yamamoto, Toru Furukawa   +4 more
doaj   +1 more source

Clues to the Function of the Tumour Susceptibility Gene BRCA2 [PDF]

Disease Markers, 1998
The breast cancer susceptibility gene BRCA2 was isolated in 1995. BRCA2 is a large gene comprising 10,254 nucleotides and 26 coding exons. Neither the nucleotide nor the predicted protein sequences (comprising 3,418 amino acids) have provided substantial clues about its function. As a result, researchers have been trying to elucidate the function using
Gayther, Simon A., Ponder, Bruce A. J.
openaire   +2 more sources

Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of double-germline mutant gastric cancer

Journal of International Medical Research, 2020
Breast cancer gene 1 and 2 ( BRCA1 and BRCA2 ) are human tumor suppressor genes. BRCA mutations increase the risk for breast, ovarian, and gastric cancer.
Lu Wen, Xiuxiu Li, Junping Shi, Shuo Zhang, Rui Wang, Ming Yao, Jun Guo   +6 more
doaj   +1 more source