Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F, Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S, Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, kConFab, Valenzuela-Palomo, Alberto, Velasco, Eladio A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
Get full text
Journal Article
Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation
Abubakar, Mustapha, Chang‐Claude, Jenny, Ali, H. Raza, Chatterjee, Nilanjan, Coulson, Penny, Daley, Frances, Blows, Fiona, Benitez, Javier, Milne, Roger L., Brenner, Hermann, Stegmaier, Christa, Mannermaa, Arto, Rudolph, Anja, Sinn, Peter, Couch, Fergus J., Devilee, Peter, Tollenaar, Rob A.E.M., Seynaeve, Caroline, Figueroa, Jonine, Lissowska, Jolanta, Hewitt, Stephen, Hooning, Maartje J., Hollestelle, Antoinette, Foekens, Renée, Koppert, Linetta B., Investigators, kConFab, Bolla, Manjeet K., Wang, Qin, Jones, Michael E., Schoemaker, Minouk J., Keeman, Renske, Easton, Douglas F., Swerdlow, Anthony J., Sherman, Mark E., Schmidt, Marjanka K., Pharoah, Paul D., Garcia‐Closas, Montserrat
Published in International journal of cancer (15.08.2018)
Published in International journal of cancer (15.08.2018)
Get full text
Journal Article
BRCA2 carriers with male breast cancer show elevated tumour methylation
Deb, Siddhartha, Gorringe, Kylie L, Pang, Jia-Min B, Byrne, David J, Takano, Elena A, Investigators, kConFab, Dobrovic, Alexander, Fox, Stephen B
Published in BMC cancer (11.09.2017)
Published in BMC cancer (11.09.2017)
Get full text
Journal Article
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
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, Parsons, Michael T, Kennedy, Martin A, Spurdle, Amanda B, de la Hoya, Miguel
Published in Frontiers in genetics (19.11.2019)
Published in Frontiers in genetics (19.11.2019)
Get full text
Journal Article
Evaluation of Association Methods for Analysing Modifiers of Disease Risk in Carriers of High-Risk Mutations
Barnes, Daniel R., Lee, Andrew, Investigators, EMBRACE, Investigators, kConFab, Easton, Douglas F., Antoniou, Antonis C.
Published in Genetic epidemiology (01.04.2012)
Published in Genetic epidemiology (01.04.2012)
Get full text
Journal Article
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells
Lattimore, Vanessa L, Pearson, John F, Morley-Bunker, Arthur E, Spurdle, Amanda B, Robinson, Bridget A, Currie, Margaret J, Walker, Logan C
Published in International journal of molecular sciences (06.02.2019)
Published in International journal of molecular sciences (06.02.2019)
Get full text
Journal Article
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth T S, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
Published in Breast cancer research : BCR (01.01.2007)
Published in Breast cancer research : BCR (01.01.2007)
Get full text
Journal Article
High‐throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium
Abubakar, Mustapha, Howat, William J, Daley, Frances, Zabaglo, Lila, McDuffus, Leigh‐Anne, Blows, Fiona, Coulson, Penny, Raza Ali, H, Benitez, Javier, Milne, Roger, Brenner, Herman, Stegmaier, Christa, Mannermaa, Arto, Chang‐Claude, Jenny, Rudolph, Anja, Sinn, Peter, Couch, Fergus J, Tollenaar, Rob A.E.M., Devilee, Peter, Figueroa, Jonine, Sherman, Mark E, Lissowska, Jolanta, Hewitt, Stephen, Eccles, Diana, Hooning, Maartje J, Hollestelle, Antoinette, WM Martens, John, HM van Deurzen, Carolien, Investigators, kConFab, Bolla, Manjeet K, Wang, Qin, Jones, Michael, Schoemaker, Minouk, Broeks, Annegien, van Leeuwen, Flora E, Van't Veer, Laura, Swerdlow, Anthony J, Orr, Nick, Dowsett, Mitch, Easton, Douglas, Schmidt, Marjanka K, Pharoah, Paul D, Garcia‐Closas, Montserrat
Published in The journal of pathology. Clinical research (01.07.2016)
Published in The journal of pathology. Clinical research (01.07.2016)
Get full text
Journal Article
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients
Walker, Logan C, Thompson, Bryony A, Waddell, Nic, Grimmond, Sean M, Spurdle, Amanda B
Published in PLoS genetics (01.02.2010)
Published in PLoS genetics (01.02.2010)
Get full text
Journal Article
Grey Level Texture Features for Segmentation of Chromogenic Dye RNAscope From Breast Cancer Tissue
Davidson, Andrew, Morley-Bunker, Arthur, Wiggins, George, Walker, Logan, Harris, Gavin, Mukundan, Ramakrishnan, kConFab Investigators
Published in arXiv.org (12.03.2024)
Published in arXiv.org (12.03.2024)
Get full text
Paper
Journal Article
Two ATM variants and breast cancer risk
Thompson, Deborah, Antoniou, Antonis C., Jenkins, Mark, Marsh, Anna, Chen, Xiaoqing, Wayne, Tierney, Tesoriero, Andrea, Milne, Roger, Spurdle, Amanda, Thorstenson, Yvonne, Southey, Melissa, Giles, Graham G., Investigators, kConFab, Khanna, Kum Kum, Sambrook, Joseph, Oefner, Peter, Goldgar, David, Hopper, John L., Easton, Doug, Chenevix-Trench, Georgia
Published in Human mutation (01.06.2005)
Published in Human mutation (01.06.2005)
Get full text
Journal Article
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression
Waddell, Nic, Ten Haaf, Anette, Marsh, Anna, Johnson, Julie, Walker, Logan C, Gongora, Milena, Brown, Melissa, Grover, Piyush, Girolami, Mark, Grimmond, Sean, Chenevix-Trench, Georgia, Spurdle, Amanda B
Published in PLoS genetics (23.05.2008)
Published in PLoS genetics (23.05.2008)
Get full text
Journal Article
Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort
Phillips, Kelly-Anne, Butow, Phyllis N, Stewart, Ailsa E, Chang, Jiun-Horng, Weideman, Prue C, Price, Melanie A, McLachlan, Sue Anne, Lindeman, Geoffrey J, McKay, Michael J, Friedlander, Michael L, Hopper, John L
Published in Familial cancer (01.01.2005)
Published in Familial cancer (01.01.2005)
Get full text
Journal Article
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, Dieter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S, LaDuca, Holly, Ramus, Susan J, Menon, Usha, Rosenthal, Adam N, Jacobs, Ian, Gayther, Simon A, Dicks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M, Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V O, Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D, Traficante, Nadia, Diez, Orland, Balmaña, Judith, Gruber, Stephen B, Chenevix-Trench, Georgia, Investigators, kConFab, Jensen, Allan, Kjær, Susanne K, Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J, Robson, Mark, Gronwald, Jacek, Domchek, Susan M, Culver, Julie O, de la Hoya, Miguel, Easton, Douglas F, Foulkes, William D, Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K, Pharoah, Paul D P, Antoniou, Antonis C
Published in JNCI : Journal of the National Cancer Institute (14.12.2020)
Published in JNCI : Journal of the National Cancer Institute (14.12.2020)
Get full text
Journal Article
Deep Learning Segmentation of Chromogenic Dye RNAscope From Breast Cancer Tissue
Davidson, Andrew, Morley-Bunker, Arthur, Wiggins, George, Walker, Logan, Harris, Gavin, Mukundan, Ramakrishnan, Investigators, kConFab
Published in Journal of imaging informatics in medicine (23.10.2024)
Published in Journal of imaging informatics in medicine (23.10.2024)
Get more information
Journal Article
Intragenic ATM Methylation in Peripheral Blood DNA as a Biomarker of Breast Cancer Risk
BRENNAN, Kevin, GARCIA-CLOSAS, Montserrat, DORRONSORO, Miren, CLAVEL-CHAPELON, Francoise, PANICO, Salvatore, ONLAND-MORET, N. Charlotte, TRICHOPOULOS, Dimitrios, KAAKS, Rudolf, KHAW, Kay-Tee, BROWN, Robert, FLANAGAN, James M, ORR, Nick, FLETCHER, Olivia, JONES, Michael, ASHWORTH, Alan, SWERDLOW, Anthony, INVESTIGATORS, Kconfab, RIBOLI, Elid, VINEIS, Paolo
Published in Cancer research (Chicago, Ill.) (01.05.2012)
Published in Cancer research (Chicago, Ill.) (01.05.2012)
Get full text
Journal Article
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
Li, Jun, Meeks, Huong, Feng, Bing-Jian, Healey, Sue, Thorne, Heather, Makunin, Igor, Ellis, Jonathan, Campbell, Ian, Southey, Melissa, Mitchell, Gillian, Clouston, David, Kirk, Judy, Goldgar, David, Chenevix-Trench, Georgia
Published in Journal of medical genetics (01.01.2016)
Published in Journal of medical genetics (01.01.2016)
Get full text
Journal Article
Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk
Kehm, Rebecca D, Genkinger, Jeanine M, MacInnis, Robert J, John, Esther M, Phillips, Kelly-Anne, Dite, Gillian S, Milne, Roger L, Zeinomar, Nur, Liao, Yuyan, Knight, Julia A, Southey, Melissa C, Chung, Wendy K, Giles, Graham G, McLachlan, Sue-Anne, Whitaker, Kristen D, Friedlander, Michael, Weideman, Prue C, Glendon, Gord, Nesci, Stephanie, Investigators, kConFab, Andrulis, Irene L, Buys, Saundra S, Daly, Mary B, Hopper, John L, Terry, Mary Beth
Published in Cancer research (Chicago, Ill.) (01.01.2020)
Published in Cancer research (Chicago, Ill.) (01.01.2020)
Get full text
Journal Article