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; ,
A novel molecular diagnostics platform for somatic and germline precision oncology.
Molecular Genetics & Genomic Medicine
Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
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: 584T>C; Leu195Pro; rs4988347
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: L195P; rs4988347
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
Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
Breast Cancer Research : Bcr
Kuusisto, Kirsi M KM; Bebel, Aleksandra A; Vihinen, Mauno M; Schleutker, Johanna J; Sallinen, Satu-Leena SL
Publication Date: 2011-02-28
Variant appearance in text: BRIP1: 584T>C; Leu195Pro; rs4988347
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; , ; ,
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer.
Breast Cancer Research : Bcr
Lewis, Aaron G AG; Flanagan, James J; Marsh, Anna A; Pupo, Gulietta M GM; Mann, Graham G; Spurdle, Amanda B AB; Lindeman, Geoffrey J GJ; Visvader, Jane E JE; Brown, Melissa A MA; Chenevix-Trench, Georgia G; ,