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

द्वारा Deb, Siddhartha, Jene, Nicholas, investigators, kConFab, Fox, Stephen B
प्रकाशित 2012

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

द्वारा Woodward, A, Davis, T, Silva, A, kConFab, I, Kirk, J, Leary, J
प्रकाशित 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

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

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

BRCA2 carriers with male breast cancer show elevated tumour methylation

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

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

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

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells

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

Prostate screening uptake in Australian BRCA1 and BRCA2 carriers

द्वारा 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
प्रकाशित 2007

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

द्वारा 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.
प्रकाशित 2008

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

द्वारा 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
में प्रकाशित Breast Cancer Res Treat (2017)

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

द्वारा 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
में प्रकाशित JNCI Cancer Spectr (2020)

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

द्वारा 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
प्रकाशित 2007

Classification of BRCA1 missense variants of unknown clinical significance

द्वारा 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
प्रकाशित 2005

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

द्वारा 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
में प्रकाशित Front Genet (2019)

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

द्वारा 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.
में प्रकाशित Int J Mol Sci (2021)

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

द्वारा 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
प्रकाशित 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

द्वारा 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
प्रकाशित 2008

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

द्वारा 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
प्रकाशित 2006

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

द्वारा 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
में प्रकाशित Int J Cancer (2019)

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

द्वारा 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.
प्रकाशित 2009