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

由 Deb, Siddhartha, Jene, Nicholas, investigators, kConFab, Fox, Stephen B
出版 2012

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

由 Woodward, A, Davis, T, Silva, A, kConFab, I, Kirk, J, Leary, J
出版 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

由 Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B.
出版 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...

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

BRCA2 carriers with male breast cancer show elevated tumour methylation

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

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

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

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells

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

Prostate screening uptake in Australian BRCA1 and BRCA2 carriers

由 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
出版 2007

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

由 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.
出版 2008

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

由 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
發表在 Breast Cancer Res Treat (2017)

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

由 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
發表在 JNCI Cancer Spectr (2020)

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

由 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
出版 2007

Classification of BRCA1 missense variants of unknown clinical significance

由 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
出版 2005

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

由 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
發表在 Front Genet (2019)

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

由 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.
發表在 Int J Mol Sci (2021)

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

由 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
出版 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

由 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
出版 2008

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

由 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
出版 2006

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

由 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
發表在 Int J Cancer (2019)

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

由 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.
出版 2009