Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas

Autor Deb, Siddhartha, Jene, Nicholas, investigators, kConFab, Fox, Stephen B
Vydáno 2012

Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families

Autor Woodward, A, Davis, T, Silva, A, kConFab, I, Kirk, J, Leary, J
Vydáno 2005

Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

Autor Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B.
Vydáno 2010

Bayes Analysis Provides Evidence of Pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) Variants Displaying In Vitro Splicing Results of Equivocal Clini...

Autor Spurdle, Amanda B., Lakhani, Sunil R., Da Silva, Leonard M., Balleine, Rosemary L., Investigators, kConFab, Goldgar, David E.
Vydáno 2010

BRCA2 carriers with male breast cancer show elevated tumour methylation

Autor Deb, Siddhartha, Gorringe, Kylie L., Pang, Jia-Min B., Byrne, David J., Takano, Elena A., Investigators, kConFab, Dobrovic, Alexander, Fox, Stephen B.
Vydáno v BMC Cancer (2017)

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Autor Thompson, Ella R., Rowley, Simone M., Sawyer, Sarah, kConFab, Eccles, Diana M., Trainer, Alison H., Mitchell, Gillian, James, Paul A., Campbell, Ian G.
Vydáno 2013

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells

Autor Lattimore, Vanessa L., Pearson, John F., Morley-Bunker, Arthur E., Investigators, kConFab, Spurdle, Amanda B., Robinson, Bridget A., Currie, Margaret J., Walker, Logan C.
Vydáno v Int J Mol Sci (2019)

Prostate screening uptake in Australian BRCA1 and BRCA2 carriers

Autor McKinley, Joanne M, Weideman, Prue C, Jenkins, Mark A, Friedlander, Michael L, Hopper, John L, McLachlan, Sue-Anne, Lindeman, Geoffrey J, Investigators, kConFab, Phillips, Kelly-Anne
Vydáno 2007

BRCA1 and BRCA2 Missense Variants of High and Low Clinical Significance Influence Lymphoblastoid Cell Line Post-Irradiation Gene Expression

Autor Waddell, Nic, Ten Haaf, Anette, Marsh, Anna, Johnson, Julie, Walker, Logan C., Investigators, kConFab, Gongora, Milena, Brown, Melissa, Grover, Piyush, Girolami, Mark, Grimmond, Sean, Chenevix-Trench, Georgia, Spurdle, Amanda B.
Vydáno 2008

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families

Autor Li, Jun, Li, Hongyan, Makunin, Igor, Investigators, kConFab, Thompson, Bryony A., Tao, Kayoko, Young, Erin L., Lopez, Jacqueline, Camp, Nicola J., Tavtigian, Sean V., John, Esther M., Andrulis, Irene L., Khanna, Kum Kum, Goldgar, David, Chenevix-Trench, Georgia
Vydáno v Breast Cancer Res Treat (2017)

Motivators of Inappropriate Ovarian Cancer Screening: A Survey of Women and Their Clinicians

Autor Macdonald, Courtney, Mazza, Danielle, Hickey, Martha, Hunter, Morgan, Keogh, Louise A, Investigators, kConFab, Jones, Sandra C, Saunders, Christobel, Nesci, Stephanie, Milne, Roger L, McLachlan, Sue-Anne, Hopper, John L, Friedlander, Michael L, Emery, Jon, Phillips, Kelly-Anne
Vydáno v JNCI Cancer Spectr (2020)

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Autor Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Investigators, kConFab, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
Vydáno 2007

Classification of BRCA1 missense variants of unknown clinical significance

Autor Phelan, C, Dapic, V, Tice, B, Favis, R, Kwan, E, Barany, F, Manoukian, S, Radice, P, van der Luijt, R B, van Nesselrooij, B P M, Chenevix-Trench, G, kConFab, Caldes, T, de La Hoya, M, Lindquist, S, Tavtigian, S, Goldgar, D, Borg, A, Narod, S, Monteiro, A
Vydáno 2005

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Autor Walker, Logan C., Lattimore, Vanessa Lilian, Kvist, Anders, Kleiblova, Petra, Zemankova, Petra, de Jong, Lucy, Wiggins, George A. R., Hakkaart, Christopher, Cree, Simone L., Behar, Raquel, Houdayer, Claude, Investigators, kConFab, Parsons, Michael T., Kennedy, Martin A., Spurdle, Amanda B., de la Hoya, Miguel
Vydáno v Front Genet (2019)

VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association

Autor Dugué, Pierre-Antoine, Yu, Chenglong, McKay, Timothy, Wong, Ee Ming, Joo, Jihoon Eric, Tsimiklis, Helen, Hammet, Fleur, Mahmoodi, Maryam, Theys, Derrick, , kConFab, Hopper, John L., Giles, Graham G., Milne, Roger L., Steen, Jason A., Dowty, James G., Nguyen-Dumont, Tu, Southey, Melissa C.
Vydáno v Int J Mol Sci (2021)

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Autor Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David Y H Choong, Richard W Tothill, Heather Thorne, kConFab, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell
Vydáno 2012-09-01

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

Autor Tischkowitz, Marc, Hamel, Nancy, Carvalho, Marcelo A, Birrane, Gabriel, Soni, Aditi, van Beers, Erik H, Joosse, Simon A, Wong, Nora, Novak, David, Quenneville, Louise A, Grist, Scott A, kConFab, Nederlof, Petra M, Goldgar, David E, Tavtigian, Sean V, Monteiro, Alvaro N, Ladias, John AA, Foulkes, William D
Vydáno 2008

Genetic, functional, and histopathological evaluation of two C‐terminal BRCA1 missense variants

Autor Lovelock, P K, Healey, S, Au, W, Sum, E Y M, Tesoriero, A, Wong, E M, Hinson, S, Brinkworth, R, Bekessy, A, Diez, O, Izatt, L, Solomon, E, Jenkins, M, Renard, H, Hopper, J, Waring, P, Investigators, kConFab, Tavtigian, S V, Goldgar, D, Lindeman, G J, Visvader, J E, Couch, F J, Henderson, B R, Southey, M, Chenevix‐Trench, G, Spurdle, A B, Brown, M A
Vydáno 2006

Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort

Autor Zeinomar, Nur, Phillips, Kelly-Anne, Daly, Mary B., Milne, Roger L., Dite, Gillian S., MacInnis, Robert J., Liao, Yuyan, Kehm, Rebecca D., Knight, Julia A., Southey, Melissa C., Chung, Wendy K., Giles, Graham G., McLachlan, Sue-Anne, Friedlander, Michael L., Weideman, Prue C., Glendon, Gord, Nesci, Stephanie, Investigators, kConFab, Andrulis, Irene L., Buys, Saundra S., John, Esther M., Hopper, John L., Terry, Mary Beth
Vydáno v Int J Cancer (2019)

Modification of Ovarian Cancer Risk by BRCA1/2 Interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

Autor Rebbeck, Timothy R., Mitra, Nandita, Domchek, Susan M., Wan, Fei, Chuai, Shannon, Friebel, Tara M., Panossian, Saarene, Spurdle, Amanda, Chenevix-Trench, Georgia, kConFab, Singer, Christian F., Pfeiler, Georg, Neuhausen, Susan L., Lynch, Henry T., Garber, Judy E., Weitzel, Jeffrey N., Isaacs, Claudine, Couch, Fergus, Narod, Steven A., Rubinstein, Wendy S., Tomlinson, Gail E., Ganz, Patricia A., Olopade, Olufunmilayo I., Tung, Nadine, Blum, Joanne L., Greenberg, Roger, Nathanson, Katherine L., Daly, Mary B.
Vydáno 2009