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: PALB2: 3549C>G; Y1183*; rs118203998
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: PALB2: 3549C>G; Tyr1183Ter
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
European Urology
Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Pathology Oncology Research : Por
Čerina, Dora D; Matković, Višnja V; Katić, Kristina K; Lovasić, Ingrid Belac IB; Šeparović, Robert R; Canjko, Ivana I; Jakšić, Blanka B; Fröbe, Ana A; Pleština, Stjepko S; Bajić, Žarko Ž; Vrdoljak, Eduard E
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: PALB2: 3549C>G; Tyr1183*
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Woodward, Emma R ER; van Veen, Elke M EM; Forde, Claire C; Harkness, Elaine F EF; Byers, Helen J HJ; Ellingford, Jamie M JM; Burghel, George J GJ; Schlech, Helene H; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ; Gareth Evans, D D
Publication Date: 2021-10
Variant appearance in text: PALB2: 3549C>G; Tyr1183Ter
Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.
Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05
Variant appearance in text: PALB2: Y1183*; rs118203998
Extended gene panel testing in lobular breast cancer.
Familial Cancer
van Veen, Elke M EM; Evans, D Gareth DG; Harkness, Elaine F EF; Byers, Helen J HJ; Ellingford, Jamie M JM; Woodward, Emma R ER; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Npj Breast Cancer
Walsh, Tom T; Gulsuner, Suleyman S; Lee, Ming K MK; Troester, Melissa A MA; Olshan, Andrew F AF; Earp, H Shelton HS; Perou, Charles M CM; King, Mary-Claire MC
Publication Date: 2021-01-21
Variant appearance in text: PALB2: 3549C>G; Y1183X
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ
Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
Cancer
Maynard, Hannah H; Stadler, Zsofia K ZK; Berger, Michael F MF; Solit, David B DB; Ly, Michele M; Lowery, Maeve A MA; Mandelker, Diana D; Zhang, Liying L; Jordan, Emmett E; El Dika, Imane I; Kemel, Yelena Y; Ladanyi, Marc M; Robson, Mark E ME; O'Reilly, Eileen M EM; Abou-Alfa, Ghassan K GK
Publication Date: 2020-01-01
Variant appearance in text: PALB2: 3549C>G; Tyr1183*
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Nucleic Acids Research
Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY
Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
Journal Of Geriatric Oncology
Slavin, Thomas P TP; Sun, Can-Lan CL; Chavarri-Guerra, Yanin Y; Sedrak, Mina S MS; Katheria, Vani V; Castillo, Danielle D; Herzog, Josef J; Dale, William W; Hurria, Arti A; Weitzel, Jeffrey N JN
Publication Date: 2020-03
Variant appearance in text: PALB2: 3549C>G; Y1183*
Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
Breast Cancer Research : Bcr
Petridis, Christos C; Arora, Iteeka I; Shah, Vandna V; Megalios, Anargyros A; Moss, Charlotte C; Mera, Anca A; Clifford, Angela A; Gillett, Cheryl C; Pinder, Sarah E SE; Tomlinson, Ian I; Roylance, Rebecca R; Simpson, Michael A MA; Sawyer, Elinor J EJ
Experience with precision genomics and tumor board, indicates frequent target identification, but barriers to delivery.
Oncotarget
Bryce, Alan H AH; Egan, Jan B JB; Borad, Mitesh J MJ; Stewart, A Keith AK; Nowakowski, Grzegorz S GS; Chanan-Khan, Asher A; Patnaik, Mrinal M MM; Ansell, Stephen M SM; Banck, Michaela S MS; Robinson, Steven I SI; Mansfield, Aaron S AS; Klee, Eric W EW; Oliver, Gavin R GR; McCormick, Jennifer B JB; Huneke, Norine E NE; Tagtow, Colleen M CM; Jenkins, Robert B RB; Rumilla, Kandelaria M KM; Kerr, Sarah E SE; Kocher, Jean-Pierre A JA; Beck, Scott A SA; Fernandez-Zapico, Martin E ME; Farrugia, Gianrico G; Lazaridis, Konstantinos N KN; McWilliams, Robert R RR
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Breast Cancer Research And Treatment
Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Journal Of Medical Genetics
Southey, Melissa C MC; Goldgar, David E DE; Winqvist, Robert R; Pylkäs, Katri K; Couch, Fergus F; Tischkowitz, Marc M; Foulkes, William D WD; Dennis, Joe J; Michailidou, Kyriaki K; van Rensburg, Elizabeth J EJ; Heikkinen, Tuomas T; Nevanlinna, Heli H; Hopper, John L JL; Dörk, Thilo T; Claes, Kathleen Bm KB; Reis-Filho, Jorge J; Teo, Zhi Ling ZL; Radice, Paolo P; Catucci, Irene I; Peterlongo, Paolo P; Tsimiklis, Helen H; Odefrey, Fabrice A FA; Dowty, James G JG; Schmidt, Marjanka K MK; Broeks, Annegien A; Hogervorst, Frans B FB; Verhoef, Senno S; Carpenter, Jane J; Clarke, Christine C; Scott, Rodney J RJ; Fasching, Peter A PA; Haeberle, Lothar L; Ekici, Arif B AB; Beckmann, Matthias W MW; Peto, Julian J; Dos-Santos-Silva, Isabel I; Fletcher, Olivia O; Johnson, Nichola N; Bolla, Manjeet K MK; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Marme, Federik F; Burwinkel, Barbara B; Yang, Rongxi R; Guénel, Pascal P; Truong, Thérèse T; Menegaux, Florence F; Sanchez, Marie M; Bojesen, Stig S; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan S; Ziogas, Argyrios A; Clarke, Christina A CA; Brenner, Hermann H; Arndt, Volker V; Stegmaier, Christa C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Lindblom, Annika A; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Spurdle, Amanda B AB; Investigators, kConFab K; , ; Wauters, Els E; Smeets, Dominiek D; Beuselinck, Benoit B; Floris, Giuseppe G; Chang-Claude, Jenny J; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Olson, Janet E JE; Vachon, Celine C; Pankratz, Vernon S VS; McLean, Catriona C; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Zheng, Wei W; Hunter, David J DJ; Lindstrom, Sara S; Hankinson, Susan E SE; Kraft, Peter P; Andrulis, Irene I; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kauppila, Saila S; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Hollestelle, Antoinette A; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Eccles, Diana M DM; Rafiq, Sajjad S; Tapper, William J WJ; Gerty, Sue M SM; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Tilanus-Linthorst, Madeleine M; Hall, Per P; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Cox, Angela A; Reed, Malcolm W R MW; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Hamann, Ute U; Torres, Diana D; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Durda, Katarzyna K; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; González-Neira, Anna A; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Simard, Jacques J; Dumont, Martine M; Soucy, Penny P; Eeles, Rosalind R; Muir, Kenneth K; Wiklund, Fredrik F; Gronberg, Henrik H; Schleutker, Johanna J; Nordestgaard, Børge G BG; Weischer, Maren M; Travis, Ruth C RC; Neal, David D; Donovan, Jenny L JL; Hamdy, Freddie C FC; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Schaid, Daniel J DJ; Kelley, Joseph L JL; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Butterbach, Katja K; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Kote-Jarai, Zsofia Z; Olama, Ali Amin Al AA; Benlloch, Sara S; Renner, Stefan P SP; Hartmann, Arndt A; Hein, Alexander A; Ruebner, Matthias M; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Lambretchs, Sandrina S; Doherty, Jennifer A JA; Rossing, Mary Anne MA; Nickels, Stefan S; Eilber, Ursula U; Wang-Gohrke, Shan S; Odunsi, Kunle K; Sucheston-Campbell, Lara E LE; Friel, Grace G; Lurie, Galina G; Killeen, Jeffrey L JL; Wilkens, Lynne R LR; Goodman, Marc T MT; Runnebaum, Ingo I; Hillemanns, Peter A PA; Pelttari, Liisa M LM; Butzow, Ralf R; Modugno, Francesmary F; Edwards, Robert P RP; Ness, Roberta B RB; Moysich, Kirsten B KB; du Bois, Andreas A; Heitz, Florian F; Harter, Philipp P; Kommoss, Stefan S; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Jensen, Allan A; Kjaer, Susanne Krüger SK; Høgdall, Estrid E; Peissel, Bernard B; Bonanni, Bernardo B; Bernard, Loris L; Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Larson, Melissa C MC; Fogarty, Zachary C ZC; Kalli, Kimberly R KR; Liang, Dong D; Lu, Karen H KH; Hildebrandt, Michelle A T MA; Wu, Xifeng X; Levine, Douglas A DA; Dao, Fanny F; Bisogna, Maria M; Berchuck, Andrew A; Iversen, Edwin S ES; Marks, Jeffrey R JR; Akushevich, Lucy L; Cramer, Daniel W DW; Schildkraut, Joellen J; Terry, Kathryn L KL; Poole, Elizabeth M EM; Stampfer, Meir M; Tworoger, Shelley S SS; Bandera, Elisa V EV; Orlow, Irene I; Olson, Sara H SH; Bjorge, Line L; Salvesen, Helga B HB; van Altena, Anne M AM; Aben, Katja K H KK; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; Pejovic, Tanja T; Bean, Yukie Y; Brooks-Wilson, Angela A; Kelemen, Linda E LE; Cook, Linda S LS; Le, Nhu D ND; Górski, Bohdan B; Gronwald, Jacek J; Menkiszak, Janusz J; Høgdall, Claus K CK; Lundvall, Lene L; Nedergaard, Lotte L; Engelholm, Svend Aage SA; Dicks, Ed E; Tyrer, Jonathan J; Campbell, Ian I; McNeish, Iain I; Paul, James J; Siddiqui, Nadeem N; Glasspool, Rosalind R; Whittemore, Alice S AS; Rothstein, Joseph H JH; McGuire, Valerie V; Sieh, Weiva W; Cai, Hui H; Shu, Xiao-Ou XO; Teten, Rachel T RT; Sutphen, Rebecca R; McLaughlin, John R JR; Narod, Steven A SA; Phelan, Catherine M CM; Monteiro, Alvaro N AN; Fenstermacher, David D; Lin, Hui-Yi HY; Permuth, Jennifer B JB; Sellers, Thomas A TA; Chen, Y Ann YA; Tsai, Ya-Yu YY; Chen, Zhihua Z; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Menon, Usha U; Wu, Anna H AH; Pearce, Celeste L CL; Van Den Berg, David D; Pike, Malcolm C MC; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Moes-Sosnowska, Joanna J; Kupryjanczyk, Jolanta J; Pharoah, Paul Dp PD; Song, Honglin H; Winship, Ingrid I; Chenevix-Trench, Georgia G; Giles, Graham G GG; Tavtigian, Sean V SV; Easton, Doug F DF; Milne, Roger L RL
Publication Date: 2016-12
Variant appearance in text: PALB2: 3549C>G; Tyr1183*; rs118203998
OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.
Scientific Reports
Ruark, Elise E; Münz, Márton M; Clarke, Matthew M; Renwick, Anthony A; Ramsay, Emma E; Elliott, Anna A; Seal, Sheila S; Lunter, Gerton G; Rahman, Nazneen N
Publication Date: 2016-08-03
Variant appearance in text: PALB2: 3549C>G; Tyr1183X
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
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: PALB2: 3549C>G; Tyr1183Ter
Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
Cancer
Churpek, Jane E JE; Marquez, Rafael R; Neistadt, Barbara B; Claussen, Kimberly K; Lee, Ming K MK; Churpek, Matthew M MM; Huo, Dezheng D; Weiner, Howard H; Bannerjee, Mekhala M; Godley, Lucy A LA; Le Beau, Michelle M MM; Pritchard, Colin C CC; Walsh, Tom T; King, Mary-Claire MC; Olopade, Olufunmilayo I OI; Larson, Richard A RA
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19
Variant appearance in text: PALB2: Tyr1183*; rs118203998
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Plos One
Aoude, Lauren G LG; Xu, Mai M; Zhao, Zhen Zhen ZZ; Kovacs, Michael M; Palmer, Jane M JM; Johansson, Peter P; Symmons, Judith J; Trent, Jeffrey M JM; Martin, Nicholas G NG; Montgomery, Grant W GW; Brown, Kevin M KM; Hayward, Nicholas K NK
Publication Date: 2014
Variant appearance in text: PALB2: 3549C>G; Y1183X; rs118203998
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: PALB2: Y1183X; rs118203998
Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
Human Mutation
Tischkowitz, Marc M; Capanu, Marinela M; Sabbaghian, Nelly N; Li, Lili L; Liang, Xiaolin X; Vallée, Maxime P MP; Tavtigian, Sean V SV; Concannon, Patrick P; Foulkes, William D WD; Bernstein, Leslie L; , ; Bernstein, Jonine L JL; Begg, Colin B CB
Publication Date: 2012-04
Variant appearance in text: PALB2: 3549C>G; Tyr1183*
PALB2 mutations in German and Russian patients with bilateral breast cancer.
Breast Cancer Research And Treatment
Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN