A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.
Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24
Variant appearance in text: BRIP1: V193I; rs4988346
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Npj Genomic Medicine
Tuncay, Islam Oguz IO; Parmalee, Nancy L NL; Khalil, Raida R; Kaur, Kiran K; Kumar, Ashwani A; Jimale, Mohamed M; Howe, Jennifer L JL; Goodspeed, Kimberly K; Evans, Patricia P; Alzghoul, Loai L; Xing, Chao C; Scherer, Stephen W SW; Chahrour, Maria H MH
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.
Nature Communications
Giuliani, Virginia V; Miller, Meredith A MA; Liu, Chiu-Yi CY; Hartono, Stella R SR; Class, Caleb A CA; Bristow, Christopher A CA; Suzuki, Erika E; Sanz, Lionel A LA; Gao, Guang G; Gay, Jason P JP; Feng, Ningping N; Rose, Johnathon L JL; Tomihara, Hideo H; Daniele, Joseph R JR; Peoples, Michael D MD; Bardenhagen, Jennifer P JP; Geck Do, Mary K MK; Chang, Qing E QE; Vangamudi, Bhavatarini B; Vellano, Christopher C; Ying, Haoqiang H; Deem, Angela K AK; Do, Kim-Anh KA; Genovese, Giannicola G; Marszalek, Joseph R JR; Kovacs, Jeffrey J JJ; Kim, Michael M; Fleming, Jason B JB; Guccione, Ernesto E; Viale, Andrea A; Maitra, Anirban A; Emilia Di Francesco, M M; Yap, Timothy A TA; Jones, Philip P; Draetta, Giulio G; Carugo, Alessandro A; Chedin, Frederic F; Heffernan, Timothy P TP
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Cancers
Fierheller, Caitlin T CT; Alenezi, Wejdan M WM; Tonin, Patricia N PN
Publication Date: 2021-07-07
Variant appearance in text: BRIP1: 577G>A; Val193Ile
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Cancers
Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M
Publication Date: 2020-08-03
Variant appearance in text: BRIP1: 577G>A; V193I; rs4988346
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: BRIP1: V193I; rs4988346
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: BRIP1: 577G>A; Val193Ile; rs4988346
Identification of genetic variants for clinical management of familial colorectal tumors.
Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20
Variant appearance in text: BRIP1: V193I; rs4988346
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
Familial Cancer
West, Allison H AH; Blazer, Kathleen R KR; Stoll, Jessica J; Jones, Matthew M; Weipert, Caroline M CM; Nielsen, Sarah M SM; Kupfer, Sonia S SS; Weitzel, Jeffrey N JN; Olopade, Olufunmilayo I OI
Publication Date: 2018-10
Variant appearance in text: BRIP1: 577G>A; Val193Ile
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Scientific Reports
Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ
Publication Date: 2017-05-26
Variant appearance in text: BRIP1: 577G>A; Val193Ile; rs4988346
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: BRIP1: V193I; rs4988346
Neurogenetic analysis of childhood disintegrative disorder.
Molecular Autism
Gupta, Abha R AR; Westphal, Alexander A; Yang, Daniel Y J DYJ; Sullivan, Catherine A W CAW; Eilbott, Jeffrey J; Zaidi, Samir S; Voos, Avery A; Vander Wyk, Brent C BC; Ventola, Pam P; Waqar, Zainulabedin Z; Fernandez, Thomas V TV; Ercan-Sencicek, A Gulhan AG; Walker, Michael F MF; Choi, Murim M; Schneider, Allison A; Hedderly, Tammy T; Baird, Gillian G; Friedman, Hannah H; Cordeaux, Cara C; Ristow, Alexandra A; Shic, Frederick F; Volkmar, Fred R FR; Pelphrey, Kevin A KA
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017
Variant appearance in text: BRIP1: V193I; rs4988346
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Plos Genetics
Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S
Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Human Molecular Genetics
Permuth, Jennifer B JB; Pirie, Ailith A; Ann Chen, Y Y; Lin, Hui-Yi HY; Reid, Brett M BM; Chen, Zhihua Z; Monteiro, Alvaro A; Dennis, Joe J; Mendoza-Fandino, Gustavo G; , ; , ; Anton-Culver, Hoda H; Bandera, Elisa V EV; Bisogna, Maria M; Brinton, Louise L; Brooks-Wilson, Angela A; Carney, Michael E ME; Chenevix-Trench, Georgia G; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; D'Aloisio, Aimee A AA; Anne Doherty, Jennifer J; Earp, Madalene M; Edwards, Robert P RP; Fridley, Brooke L BL; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goodman, Marc T MT; Gronwald, Jacek J; Hogdall, Estrid E; Iversen, Edwin S ES; Jakubowska, Anna A; Jensen, Allan A; Karlan, Beth Y BY; Kelemen, Linda E LE; Kjaer, Suzanne K SK; Kraft, Peter P; Le, Nhu D ND; Levine, Douglas A DA; Lissowska, Jolanta J; Lubinski, Jan J; Matsuo, Keitaro K; Menon, Usha U; Modugno, Rosemary R; Moysich, Kirsten B KB; Nakanishi, Toru T; Ness, Roberta B RB; Olson, Sara S; Orlow, Irene I; Pearce, Celeste L CL; Pejovic, Tanja T; Poole, Elizabeth M EM; Ramus, Susan J SJ; Anne Rossing, Mary M; Sandler, Dale P DP; Shu, Xiao-Ou XO; Song, Honglin H; Taylor, Jack A JA; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Tworoger, Shelley S SS; Webb, Penelope M PM; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Winham, Stacey S; Woo, Yin-Ling YL; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Phelan, Catherine M CM; Schildkraut, Joellen M JM; Berchuck, Andrew A; Goode, Ellen L EL; Pharoah, Paul D P PD; Sellers, Thomas A TA; ,
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: BRIP1: V193I; rs4988346
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Journal Of Medical Genetics
Easton, Douglas F DF; Lesueur, Fabienne F; Decker, Brennan B; Michailidou, Kyriaki K; Li, Jun J; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Ahmad, Jamil J; Thompson, Ella R ER; Damiola, Francesca F; Pertesi, Maroulio M; Voegele, Catherine C; Mebirouk, Noura N; Robinot, Nivonirina N; Durand, Geoffroy G; Forey, Nathalie N; Luben, Robert N RN; Ahmed, Shahana S; Aittomäki, Kristiina K; Anton-Culver, Hoda H; Arndt, Volker V; , ; Baynes, Caroline C; Beckman, Matthias W MW; Benitez, Javier J; Van Den Berg, David D; Blot, William J WJ; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brenner, Hermann H; Chang-Claude, Jenny J; Chia, Kee Seng KS; Choi, Ji-Yeob JY; Conroy, Don M DM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Darabi, Hatef H; Devilee, Peter P; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Fostira, Florentia F; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hart, Steven N SN; Hartman, Mikael M; Hooning, Maartje J MJ; Hsiung, Chia-Ni CN; Ito, Hidemi H; Jakubowska, Anna A; James, Paul A PA; John, Esther M EM; Johnson, Nichola N; Jones, Michael M; Kabisch, Maria M; Kang, Daehee D; , ; Kosma, Veli-Matti VM; Kristensen, Vessela V; Lambrechts, Diether D; Li, Na N; , ; Lindblom, Annika A; Long, Jirong J; Lophatananon, Artitaya A; Lubinski, Jan J; Mannermaa, Arto A; Manoukian, Siranoush S; Margolin, Sara S; Matsuo, Keitaro K; Meindl, Alfons A; Mitchell, Gillian G; Muir, Kenneth K; , ; Nevelsteen, Ines I; van den Ouweland, Ans A; Peterlongo, Paolo P; Phuah, Sze Yee SY; Pylkäs, Katri K; Rowley, Simone M SM; Sangrajrang, Suleeporn S; Schmutzler, Rita K RK; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Southey, Melissa C MC; Surowy, Harald H; Swerdlow, Anthony A; Teo, Soo H SH; Tollenaar, Rob A E M RA; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; Vachon, Celine C; Verhoef, Senno S; Wong-Brown, Michelle M; Zheng, Wei W; Zheng, Ying Y; Nevanlinna, Heli H; Scott, Rodney J RJ; Andrulis, Irene L IL; Wu, Anna H AH; Hopper, John L JL; Couch, Fergus J FJ; Winqvist, Robert R; Burwinkel, Barbara B; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Rudolph, Anja A; Dörk, Thilo T; Brauch, Hiltrud H; Hamann, Ute U; Neuhausen, Susan L SL; Milne, Roger L RL; Fletcher, Olivia O; Pharoah, Paul D P PD; Campbell, Ian G IG; Dunning, Alison M AM; Le Calvez-Kelm, Florence F; Goldgar, David E DE; Tavtigian, Sean V SV; Chenevix-Trench, Georgia G
Publication Date: 2016-05
Variant appearance in text: BRIP1: 577G>A; Val193Ile; rs4988346
Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
Cancer Research And Treatment
Kim, Haeyoung H; Cho, Dae-Yeon DY; Choi, Doo Ho DH; Jung, Gee Hue GH; Shin, Inkyung I; Park, Won W; Huh, Seung Jae SJ; Nam, Seok Jin SJ; Lee, Jeong Eon JE; Gil, Won Ho WH; Kim, Seok Won SW
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15
Variant appearance in text: BRIP1: 577G>A; V193I; rs4988346
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: BRIP1: V193I; rs4988346
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
Cancer Research
Rebbeck, Timothy R TR; Mitra, Nandita N; Domchek, Susan M SM; Wan, Fei F; Chuai, Shannon S; Friebel, Tara M TM; Panossian, Saarene S; Spurdle, Amanda A; Chenevix-Trench, Georgia G; , ; Singer, Christian F CF; Pfeiler, Georg G; Neuhausen, Susan L SL; Lynch, Henry T HT; Garber, Judy E JE; Weitzel, Jeffrey N JN; Isaacs, Claudine C; Couch, Fergus F; Narod, Steven A SA; Rubinstein, Wendy S WS; Tomlinson, Gail E GE; Ganz, Patricia A PA; Olopade, Olufunmilayo I OI; Tung, Nadine N; Blum, Joanne L JL; Greenberg, Roger R; Nathanson, Katherine L KL; Daly, Mary B MB
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
British Journal Of Cancer
Kote-Jarai, Z Z; Jugurnauth, S S; Mulholland, S S; Leongamornlert, D A DA; Guy, M M; Edwards, S S; Tymrakiewitcz, M M; O'Brien, L L; Hall, A A; Wilkinson, R R; Al Olama, A A AA; Morrison, J J; Muir, K K; Neal, D D; Donovan, J J; Hamdy, F F; Easton, D F DF; Eeles, R R; , ; ,
Publication Date: 2009-01-27
Variant appearance in text: FANCJ: 577G>A; rs4988346