Familial Breast Cancer

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2016
Mark Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Rebbeck, Timothy R. ; Friebel, Tara M. ; Mitra, Nandita ; Wan, Fei ; Chen, Stephanie ; Andrulis, Irene L. ; Apostolou, Paraskevi ; Arnold, Norbert ; Arun, Banu K. and Barrowdale, Daniel , et al. (2016) In Breast Cancer Research 18(1).
- Contribution to journal › Article
2015
Mark FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo, Paolo ; Catucci, Irene ; Colombo, Mara ; Caleca, Laura ; Mucaki, Eliseos ; Bogliolo, Massimo ; Marin, Maria ; Damiola, Francesca ; Bernard, Loris and Pensotti, Valeria , et al. (2015) In Human Molecular Genetics 24(18). p.5345-5355
- Contribution to journal › Article
2014
Mark CDKN2A-mutation hos en familie med arveligt malignt melanom
Djursby, Malene ; Wadt, Karin A W ; Lorentzen, Henrik ; Borg, Ake ^LU ; Gerdes, Anne-Marie and Krogh, Lotte (2014) In Ugeskrift for Laeger 176(40).
- Contribution to journal › Article
Mark Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Kuchenbaecker, Karoline B ; Loman, Niklas ^LU ; Borg, Åke ^LU ; Ehrencrona, Hans ^LU and Antoniou, Antonis C. (2014) In Breast Cancer Research 16(6). p.1-27
- Contribution to journal › Article
2012
Mark The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.
Jönsson, Göran B ^LU ; Staaf, Johan ^LU ; Vallon-Christersson, Johan ^LU ; Ringnér, Markus ^LU ; Gruvberger, Sofia ^LU ; Saal, Lao ^LU ; Holm, Karolina ^LU ; Hegardt, Cecilia ^LU ; Arason, Adalgeir and Fagerholm, Rainer , et al. (2012) In Cancer Research 72(16). p.4028-4036
- Contribution to journal › Article
2011
Mark Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Antoniou, Antonis C. ; Kartsonaki, Christiana ; Sinilnikova, Olga M. ; Soucy, Penny ; McGuffog, Lesley ; Healey, Sue ; Lee, Andrew ; Peterlongo, Paolo ; Manoukian, Siranoush and Peissel, Bernard , et al. (2011) In Human Molecular Genetics 20(16). p.3304-3321
- Contribution to journal › Article
2010
Mark Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Borg, Åke ^LU ; Haile, Robert W ; Malone, Kathleen E ; Capanu, Marinela ; Diep, Ahn ; Törngren, Therese ^LU ; Teraoka, Sharon ; Begg, Colin B ; Thomas, Duncan C and Concannon, Patrick , et al. (2010) In Human Mutation 31. p.1200-1240
- Contribution to journal › Article
2008
Mark Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).
Staaf, Johan ^LU ; Törngren, Therese ; Rambech, Eva ^LU ; Johansson, Ulla ^LU ; Olsson, Camilla ^LU ; Sellberg, Gunilla ^LU ; Tellhed, Lina ^LU ; Nilbert, Mef ^LU and Borg, Åke ^LU (2008) In Human Mutation 29(4). p.555-564
- Contribution to journal › Article
Mark Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair
Saal, Lao ^LU ; Gruvberger, Sofia ^LU ; Persson, Camilla ^LU ; Lövgren, Kristina ^LU ; Staaf, Johan ^LU ; Jönsson, Göran B ^LU ; Pires, MM ; Holm, Karolina ^LU ; Vallon-Christersson, Johan ^LU and Olsson, Håkan ^LU , et al. (2008) In Nature Genetics 40(1). p.102-107
- Contribution to journal › Article
2007
Mark Tumor genome wide DNA alterations assessed by array CGH in patients with poor and excellent survival following operation for colorectal cancer
Lagerstedt-Robinson, Kristina ; Staaf, Johan ^LU ; Jönsson, Göran ^LU ; Hansson, Elisabeth ; Lönnroth, Christina ; Kressner, Ulf ; Lindström, Lars ; Nordgren, Svante ; Borg, Åke ^LU and Lundholm, Kent (2007) In Cancer Informatics 3. p.55-341
- Contribution to journal › Article