BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
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: BRCA2: 7757G>A; W2586*; rs80359003
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: BRCA2: 7757G>A; Trp2586Ter
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03
Variant appearance in text: BRCA2: W2586X; rs80359003
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: BRCA2: 7757G>A; Trp2586X
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Hereditary Cancer In Clinical Practice
Murali, Krithika K; Dwarte, Tanya M TM; Nikfarjam, Mehrdad M; Tucker, Katherine M KM; Vaughan, Rhys B RB; Efthymiou, Marios M; Collins, Allison A; Spigelman, Allan D AD; Salmon, Lucinda L; Johns, Amber L AL; Williams, David B DB; Delatycki, Martin B MB; John, Thomas T; Stoita, Alina A
Feasibility of predicting allele specific expression from DNA sequencing using machine learning.
Scientific Reports
Zhang, Zhenhua Z; van Dijk, Freerk F; de Klein, Niek N; van Gijn, Mariëlle E ME; Franke, Lude H LH; Sinke, Richard J RJ; Swertz, Morris A MA; van der Velde, K Joeri KJ
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2022-02
Variant appearance in text: BRCA2: 7757G>A; Trp2586*
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2021-03-23
Variant appearance in text: BRCA2: 7757G>A; Trp2586*
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.
Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Breast Cancer Research And Treatment
Lattimore, Vanessa V; Parsons, Michael T MT; Spurdle, Amanda B AB; Pearson, John J; Lehnert, Klaus K; Sullivan, Jan J; Lintott, Caroline C; Bawden, Suzannah S; Morrin, Helen H; Robinson, Bridget B; Walker, Logan L
Publication Date: 2021-02
Variant appearance in text: BRCA2: 7757G>A; Trp2586Ter
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: BRCA2: 7757G>A; Trp2586*; rs80359003
Nyberg, Tommy T; Frost, Debra D; Barrowdale, Daniel D; Evans, D Gareth DG; Bancroft, Elizabeth E; Adlard, Julian J; Ahmed, Munaza M; Barwell, Julian J; Brady, Angela F AF; Brewer, Carole C; Cook, Jackie J; Davidson, Rosemarie R; Donaldson, Alan A; Eason, Jacqueline J; Gregory, Helen H; Henderson, Alex A; Izatt, Louise L; Kennedy, M John MJ; Miller, Claire C; Morrison, Patrick J PJ; Murray, Alex A; Ong, Kai-Ren KR; Porteous, Mary M; Pottinger, Caroline C; Rogers, Mark T MT; Side, Lucy L; Snape, Katie K; Tripathi, Vishakha V; Walker, Lisa L; Tischkowitz, Marc M; Eeles, Rosalind R; Easton, Douglas F DF; Antoniou, Antonis C AC
Publication Date: 2020-10
Variant appearance in text: BRCA2: 7757G>A; Trp2586*
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
Mouse mammary tumor virus (MMTV) - like exogenous sequences are associated with sporadic but not hereditary human breast carcinoma.
Aging
Naccarato, Antonio Giuseppe AG; Lessi, Francesca F; Zavaglia, Katia K; Scatena, Cristian C; Al Hamad, Mohammad A MA; Aretini, Paolo P; Menicagli, Michele M; Roncella, Manuela M; Ghilli, Matteo M; Caligo, Maria Adelaide MA; Mazzanti, Chiara Maria CM; Bevilacqua, Generoso G
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
The Lancet. Oncology
Copson, Ellen R ER; Maishman, Tom C TC; Tapper, Will J WJ; Cutress, Ramsey I RI; Greville-Heygate, Stephanie S; Altman, Douglas G DG; Eccles, Bryony B; Gerty, Sue S; Durcan, Lorraine T LT; Jones, Louise L; Evans, D Gareth DG; Thompson, Alastair M AM; Pharoah, Paul P; Easton, Douglas F DF; Dunning, Alison M AM; Hanby, Andrew A; Lakhani, Sunil S; Eeles, Ros R; Gilbert, Fiona J FJ; Hamed, Hisham H; Hodgson, Shirley S; Simmonds, Peter P; Stanton, Louise L; Eccles, Diana M DM
Publication Date: 2018-02
Variant appearance in text: BRCA2: 7757G>A; Trp2586X
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017
Variant appearance in text: BRCA2: 7757G>A; Trp2586*
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Research : Bcr
Rebbeck, Timothy R TR; Friebel, Tara M TM; Mitra, Nandita N; Wan, Fei F; Chen, Stephanie S; Andrulis, Irene L IL; Apostolou, Paraskevi P; Arnold, Norbert N; Arun, Banu K BK; Barrowdale, Daniel D; Benitez, Javier J; Berger, Raanan R; Berthet, Pascaline P; Borg, Ake A; Buys, Saundra S SS; Caldes, Trinidad T; Carter, Jonathan J; Chiquette, Jocelyne J; Claes, Kathleen B M KB; Couch, Fergus J FJ; Cybulski, Cezary C; Daly, Mary B MB; de la Hoya, Miguel M; Diez, Orland O; Domchek, Susan M SM; Nathanson, Katherine L KL; Durda, Katarzyna K; Ellis, Steve S; , ; Evans, D Gareth DG; Foretova, Lenka L; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Glendon, Gord G; Godwin, Andrew K AK; Greene, Mark H MH; Gronwald, Jacek J; Hahnen, Eric E; Hallberg, Emily E; Hamann, Ute U; Hansen, Thomas V O TV; , ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Jakubowska, Anna A; Janavicius, Ramunas R; Jaworska-Bieniek, Katarzyna K; John, Esther M EM; Karlan, Beth Y BY; Kaufman, Bella B; Investigators, KConFab K; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Lazaro, Conxi C; Lester, Jenny J; Loman, Niklas N; Lubinski, Jan J; Manoukian, Siranoush S; Mitchell, Gillian G; Montagna, Marco M; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Park, Sue Kyung SK; Piedmonte, Marion M; Radice, Paolo P; Rappaport-Fuerhauser, Christine C; Rookus, Matti A MA; Seynaeve, Caroline C; Simard, Jacques J; Singer, Christian F CF; Soucy, Penny P; Southey, Melissa M; Stoppa-Lyonnet, Dominique D; Sukiennicki, Grzegorz G; Szabo, Csilla I CI; Tancredi, Mariella M; Teixeira, Manuel R MR; Teo, Soo-Hwang SH; Terry, Mary Beth MB; Thomassen, Mads M; Tihomirova, Laima L; Tischkowitz, Marc M; Toland, Amanda Ewart AE; Toloczko-Grabarek, Aleksandra A; Tung, Nadine N; van Rensburg, Elizabeth J EJ; Villano, Danylo D; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Zidan, Jamal J; Zorn, Kristin K KK; McGuffog, Lesley L; Easton, Douglas D; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Ramus, Susan J SJ
Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Torres-Mejía, Gabriela G; Royer, Robert R; Llacuachaqui, Marcia M; Akbari, Mohammad R MR; Giuliano, Anna R AR; Martínez-Matsushita, Louis L; Angeles-Llerenas, Angélica A; Ortega-Olvera, Carolina C; Ziv, Elad E; Lazcano-Ponce, Eduardo E; Phelan, Catherine M CM; Narod, Steven A SA
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations.
Gynecologic Oncology
Conner, James R JR; Meserve, Emily E; Pizer, Ellen E; Garber, Judy J; Roh, Michael M; Urban, Nicole N; Drescher, Charles C; Quade, Bradley J BJ; Muto, Michael M; Howitt, Brooke E BE; Pearlman, Mark D MD; Berkowitz, Ross S RS; Horowitz, Neil N; Crum, Christopher P CP; Feltmate, Colleen C
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Castro, Elena E; Goh, Chee C; Olmos, David D; Saunders, Ed E; Leongamornlert, Daniel D; Tymrakiewicz, Malgorzata M; Mahmud, Nadiya N; Dadaev, Tokhir T; Govindasami, Koveela K; Guy, Michelle M; Sawyer, Emma E; Wilkinson, Rosemary R; Ardern-Jones, Audrey A; Ellis, Steve S; Frost, Debra D; Peock, Susan S; Evans, D Gareth DG; Tischkowitz, Marc M; Cole, Trevor T; Davidson, Rosemarie R; Eccles, Diana D; Brewer, Carole C; Douglas, Fiona F; Porteous, Mary E ME; Donaldson, Alan A; Dorkins, Huw H; Izatt, Louise L; Cook, Jackie J; Hodgson, Shirley S; Kennedy, M John MJ; Side, Lucy E LE; Eason, Jacqueline J; Murray, Alex A; Antoniou, Antonis C AC; Easton, Douglas F DF; Kote-Jarai, Zsofia Z; Eeles, Rosalind R
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.
Plos Genetics
Walker, Logan C LC; Thompson, Bryony A BA; Waddell, Nic N; , ; Grimmond, Sean M SM; Spurdle, Amanda B AB
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Plos Genetics
Waddell, Nic N; Ten Haaf, Anette A; Marsh, Anna A; Johnson, Julie J; Walker, Logan C LC; , ; Gongora, Milena M; Brown, Melissa M; Grover, Piyush P; Girolami, Mark M; Grimmond, Sean S; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB