Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter; rs80356962
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
Molecular Genetics & Genomic Medicine
Abdel-Razeq, Hikmat H; Al-Azzam, Khansa K; Elemian, Shatha S; Abu-Fares, Hala H; Abu Sheikha, Areej A; Bani Hani, Hira H; Bater, Rayan R; Sharaf, Baha' B; Heald, Brandie B; Esplin, Edward D ED; Nielsen, Sarah M SM; Alkyam, Mais M; Abujamous, Lama L; Al-Attary, Areej A
Publication Date: 2022-12-19
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06
Variant appearance in text: BRCA1: 5444G>A; Trp1815X
Precision oncology for intrahepatic cholangiocarcinoma in clinical practice.
British Journal Of Cancer
Tomczak, Aurelie A; Springfeld, Christoph C; Dill, Michael T MT; Chang, De-Hua DH; Kazdal, Daniel D; Wagner, Ursula U; Mehrabi, Arianeb A; Brockschmidt, Antje A; Luedde, Tom T; Naumann, Patrick P; Stenzinger, Albrecht A; Schirmacher, Peter P; Longerich, Thomas T
Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.
Cancer Research And Treatment
Kim, Ju Won JW; Kang, Hyo Eun HE; Choi, Jimi J; Yun, Seung Gyu SG; Jung, Seung Pil SP; Bae, Soo Yeon SY; You, Ji Young JY; Choi, Yoon-Ji YJ; Kim, Yeul Hong YH; Park, Kyong Hwa KH
Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
Bmc Cancer
Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D
Publication Date: 2022-01-03
Variant appearance in text: BRCA1: 5444G>A; W1815*
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).
Journal Of Medical Genetics
Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2022-03
Variant appearance in text: BRCA1: 5444G>A; Trp1815*
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter; rs80356962
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
Jama Network Open
Kemp, Zoe Z; Turnbull, Alice A; Yost, Shawn S; Seal, Sheila S; Mahamdallie, Shazia S; Poyastro-Pearson, Emma E; Warren-Perry, Margaret M; Eccleston, Anthony A; Tan, Min-Min MM; Teo, Soo Hwang SH; Turner, Nicholas N; Strydom, Ann A; George, Angela A; Rahman, Nazneen N
Publication Date: 2019-05-03
Variant appearance in text: BRCA1: 5444G>A; Trp1815X
Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors.
Genome Medicine
Yang, S Y Cindy SYC; Lheureux, Stephanie S; Karakasis, Katherine K; Burnier, Julia V JV; Bruce, Jeffery P JP; Clouthier, Derek L DL; Danesh, Arnavaz A; Quevedo, Rene R; Dowar, Mark M; Hanna, Youstina Y; Li, Tiantian T; Lu, Lin L; Xu, Wei W; Clarke, Blaise A BA; Ohashi, Pamela S PS; Shaw, Patricia A PA; Pugh, Trevor J TJ; Oza, Amit M AM
Accurate classification of BRCA1 variants with saturation genome editing.
Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10
Variant appearance in text: BRCA1: 5444G>A; W1815*
Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yurgelun, Matthew B MB; Chittenden, Anu B AB; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Dunne, Richard F RF; Kozak, Margaret M MM; Qian, Zhi Rong ZR; Welch, Marisa W MW; Brais, Lauren K LK; Da Silva, Annacarolina A; Bui, Justin L JL; Yuan, Chen C; Li, Tingting T; Li, Wanwan W; Masuda, Atsuhiro A; Gu, Mancang M; Bullock, Andrea J AJ; Chang, Daniel T DT; Clancy, Thomas E TE; Linehan, David C DC; Findeis-Hosey, Jennifer J JJ; Doyle, Leona A LA; Thorner, Aaron R AR; Ducar, Matthew D MD; Wollison, Bruce M BM; Khalaf, Natalia N; Perez, Kimberly K; Syngal, Sapna S; Aguirre, Andrew J AJ; Hahn, William C WC; Meyerson, Matthew L ML; Fuchs, Charles S CS; Ogino, Shuji S; Hornick, Jason L JL; Hezel, Aram F AF; Koong, Albert C AC; Nowak, Jonathan A JA; Wolpin, Brian M BM
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Scientific Reports
Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P
Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.
Investigational New Drugs
Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
International Journal Of Cancer
Lolas Hamameh, Suhair S; Renbaum, Paul P; Kamal, Lara L; Dweik, Dima D; Salahat, Mohammad M; Jaraysa, Tamara T; Abu Rayyan, Amal A; Casadei, Silvia S; Mandell, Jessica B JB; Gulsuner, Suleyman S; Lee, Ming K MK; Walsh, Tom T; King, Mary-Claire MC; Levy-Lahad, Ephrat E; Kanaan, Moein M
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.
European Journal Of Human Genetics : Ejhg
Walker, Logan C LC; Marquart, Louise L; Pearson, John F JF; Wiggins, George A R GA; O'Mara, Tracy A TA; Parsons, Michael T MT; , ; Barrowdale, Daniel D; McGuffog, Lesley L; Dennis, Joe J; Benitez, Javier J; Slavin, Thomas P TP; Radice, Paolo P; Frost, Debra D; , ; Godwin, Andrew K AK; Meindl, Alfons A; Schmutzler, Rita Katharina RK; , ; Isaacs, Claudine C; Peshkin, Beth N BN; Caldes, Trinidad T; Hogervorst, Frans Bl FB; , ; Lazaro, Conxi C; Jakubowska, Anna A; Montagna, Marco M; , ; Chen, Xiaoqing X; Offit, Kenneth K; Hulick, Peter J PJ; Andrulis, Irene L IL; Lindblom, Annika A; Nussbaum, Robert L RL; Nathanson, Katherine L KL; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Couch, Fergus J FJ; Spurdle, Amanda B AB
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
Oncotarget
Fernandes, Gabriela C GC; Michelli, Rodrigo A D RA; Galvão, Henrique C R HC; Paula, André E AE; Pereira, Rui R; Andrade, Carlos E CE; Felicio, Paula S PS; Souza, Cristiano P CP; Mendes, Deise R P DR; Volc, Sahlua S; Berardinelli, Gustavo N GN; Grasel, Rebeca S RS; Sabato, Cristina S CS; Viana, Danilo V DV; Mauad, Edmundo C EC; Scapulatempo-Neto, Cristovam C; Arun, Banu B; Reis, Rui M RM; Palmero, Edenir I EI
Publication Date: 2016-12-06
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08
Variant appearance in text: BRCA1: 5444G>A; Trp1815Ter
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
Journal Of Medical Genetics
Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW
BRCA1 haploinsufficiency for replication stress suppression in primary cells.
Nature Communications
Pathania, Shailja S; Bade, Sangeeta S; Le Guillou, Morwenna M; Burke, Karly K; Reed, Rachel R; Bowman-Colin, Christian C; Su, Ying Y; Ting, David T DT; Polyak, Kornelia K; Richardson, Andrea L AL; Feunteun, Jean J; Garber, Judy E JE; Livingston, David M DM
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Bmc Medical Genetics
Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.
Molecular Oncology
Stordal, Britta B; Timms, Kirsten K; Farrelly, Angela A; Gallagher, Danielle D; Busschots, Steven S; Renaud, Mickaël M; Thery, Julien J; Williams, Deborah D; Potter, Jennifer J; Tran, Thanh T; Korpanty, Greg G; Cremona, Mattia M; Carey, Mark M; Li, Jie J; Li, Yang Y; Aslan, Ozlem O; O'Leary, John J JJ; Mills, Gordon B GB; Hennessy, Bryan T BT
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
Human Mutation
Borg, Ake A; Haile, Robert W RW; Malone, Kathleen E KE; Capanu, Marinela M; Diep, Ahn A; Törngren, Therese T; Teraoka, Sharon S; Begg, Colin B CB; Thomas, Duncan C DC; Concannon, Patrick P; Mellemkjaer, Lene L; Bernstein, Leslie L; Tellhed, Lina L; Xue, Shanyan S; Olson, Eric R ER; Liang, Xiaolin X; Dolle, Jessica J; Børresen-Dale, Anne-Lise AL; Bernstein, Jonine L JL
Publication Date: 2010-03
Variant appearance in text: BRCA1: 5444G>A; W1815X
Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Oktay, Kutluk K; Kim, Ja Yeon JY; Barad, David D; Babayev, Samir N SN