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: 3113G>A; Trp1038Ter; rs180177132
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: 3113G>A; Trp1038Ter
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25
Variant appearance in text: PALB2: 3113G>A; Trp1038Ter; rs180177132
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
Cancer Medicine
Tatineni, Sushma S; Tarockoff, Meri M; Abdallah, Nadine N; Purrington, Kristen S KS; Assad, Hadeel H; Reagle, Rachel R; Petrucelli, Nancie N; Simon, Michael S MS
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: PALB2: 3113G>A; Trp1038Ter
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: PALB2: 3113G>A; Trp1038Ter
Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
The Journal Of Pathology
Valenzuela-Palomo, Alberto A; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Lorca, Víctor V; Fraile-Bethencourt, Eugenia E; Esteban-Sánchez, Ada A; Gómez-Barrero, Susana S; Carvalho, Sara S; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Dorling, Leila L; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco, Eladio A EA
Publication Date: 2022-03
Variant appearance in text: PALB2: 3113G>A; Trp1038*
Ceralasertib-Mediated ATR Inhibition Combined With Olaparib in Advanced Cancers Harboring DNA Damage Response and Repair Alterations (Olaparib Combinations).
Jco Precision Oncology
Mahdi, Haider H; Hafez, Navid N; Doroshow, Deborah D; Sohal, Davendra D; Keedy, Vickie V; Do, Khanh T KT; LoRusso, Patricia P; Jürgensmeier, Juliane J; Avedissian, Manuel M; Sklar, Jeffrey J; Glover, Colin C; Felicetti, Brunella B; Dean, Emma E; Mortimer, Peter P; Shapiro, Geoffrey I GI; Eder, Joseph Paul JP
Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
Cancers
Kwong, Ava A; Shin, Vivian Y VY; Ho, Cecilia Y S CYS; Khalid, Aleena A; Au, Chun Hang CH; Chan, Karen K L KKL; Ngan, Hextan Y S HYS; Chan, Tsun-Leung TL; Ma, Edmond S K ESK
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
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: 3113G>A; Trp1038Ter
Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
European Journal Of Human Genetics : Ejhg
Whitworth, James J; Casey, Ruth T RT; Smith, Philip S PS; Giger, Olivier O; Martin, Jose Ezequiel JE; Clark, Graeme G; Cook, Jaqueline J; Fernando, Marlee S MS; Taniere, Phillipe P; , ; Maher, Eamonn R ER
Publication Date: 2021-07
Variant appearance in text: PALB2: 3113G>A; Trp1038*
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: PALB2: 3113G>A; Trp1038*
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: PALB2: 3113G>A; Trp1038*
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05
Variant appearance in text: PALB2: 3113G>A; W1038*
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
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: 3113G>A; W1038X
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
Publication Date: 2021-05
Variant appearance in text: PALB2: 3113G>A; W1038*; rs180177132
CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.
Jco Precision Oncology
Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M
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.
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Nature Communications
Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2020-04-02
Variant appearance in text: PALB2: 3113G>A; Trp1038Ter
Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Ophthalmology
Abdel-Rahman, Mohamed H MH; Sample, Klarke M KM; Pilarski, Robert R; Walsh, Tomas T; Grosel, Timothy T; Kinnamon, Daniel D; Boru, Getachew G; Massengill, James B JB; Schoenfield, Lynn L; Kelly, Ben B; Gordon, David D; Johansson, Peter P; DeBenedictis, Meghan J MJ; Singh, Arun A; Casadei, Silvia S; Davidorf, Frederick H FH; White, Peter P; Stacey, Andrew W AW; Scarth, James J; Fewings, Ellie E; Tischkowitz, Marc M; King, Mary-Claire MC; Hayward, Nicholas K NK; Cebulla, Colleen M CM
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: PALB2: 3113G>A; W1038*; rs180177132
NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.
Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04
Variant appearance in text: PALB2: 3113G>A; Trp1038*
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yang, Xin X; Leslie, Goska G; Doroszuk, Alicja A; Schneider, Sandra S; Allen, Jamie J; Decker, Brennan B; Dunning, Alison M AM; Redman, James J; Scarth, James J; Plaskocinska, Inga I; Luccarini, Craig C; Shah, Mitul M; Pooley, Karen K; Dorling, Leila L; Lee, Andrew A; Adank, Muriel A MA; Adlard, Julian J; Aittomäki, Kristiina K; Andrulis, Irene L IL; Ang, Peter P; Barwell, Julian J; Bernstein, Jonine L JL; Bobolis, Kristie K; Borg, Åke Å; Blomqvist, Carl C; Claes, Kathleen B M KBM; Concannon, Patrick P; Cuggia, Adeline A; Culver, Julie O JO; Damiola, Francesca F; de Pauw, Antoine A; Diez, Orland O; Dolinsky, Jill S JS; Domchek, Susan M SM; Engel, Christoph C; Evans, D Gareth DG; Fostira, Florentia F; Garber, Judy J; Golmard, Lisa L; Goode, Ellen L EL; Gruber, Stephen B SB; Hahnen, Eric E; Hake, Christopher C; Heikkinen, Tuomas T; Hurley, Judith E JE; Janavicius, Ramunas R; Kleibl, Zdenek Z; Kleiblova, Petra P; Konstantopoulou, Irene I; Kvist, Anders A; Laduca, Holly H; Lee, Ann S G ASG; Lesueur, Fabienne F; Maher, Eamonn R ER; Mannermaa, Arto A; Manoukian, Siranoush S; McFarland, Rachel R; McKinnon, Wendy W; Meindl, Alfons A; Metcalfe, Kelly K; Mohd Taib, Nur Aishah NA; Moilanen, Jukka J; Nathanson, Katherine L KL; Neuhausen, Susan S; Ng, Pei Sze PS; Nguyen-Dumont, Tu T; Nielsen, Sarah M SM; Obermair, Florian F; Offit, Kenneth K; Olopade, Olufunmilayo I OI; Ottini, Laura L; Penkert, Judith J; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rudaitis, Vilius V; Side, Lucy L; Silva-Smith, Rachel R; Silvestri, Valentina V; Skytte, Anne-Bine AB; Slavin, Thomas T; Soukupova, Jana J; Tondini, Carlo C; Trainer, Alison H AH; Unzeitig, Gary G; Usha, Lydia L; van Overeem Hansen, Thomas T; Whitworth, James J; Wood, Marie M; Yip, Cheng Har CH; Yoon, Sook-Yee SY; Yussuf, Amal A; Zogopoulos, George G; Goldgar, David D; Hopper, John L JL; Chenevix-Trench, Georgia G; Pharoah, Paul P; George, Sophia H L SHL; Balmaña, Judith J; Houdayer, Claude C; James, Paul P; El-Haffaf, Zaki Z; Ehrencrona, Hans H; Janatova, Marketa M; Peterlongo, Paolo P; Nevanlinna, Heli H; Schmutzler, Rita R; Teo, Soo-Hwang SH; Robson, Mark M; Pal, Tuya T; Couch, Fergus F; Weitzel, Jeffrey N JN; Elliott, Aaron A; Southey, Melissa M; Winqvist, Robert R; Easton, Douglas F DF; Foulkes, William D WD; Antoniou, Antonis C AC; Tischkowitz, Marc M
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
Publication Date: 2019-11-22
Variant appearance in text: PALB2: 3113G>A; W1038X
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
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Npj Breast Cancer
Li, Anqi A; Geyer, Felipe C FC; Blecua, Pedro P; Lee, Ju Youn JY; Selenica, Pier P; Brown, David N DN; Pareja, Fresia F; Lee, Simon S K SSK; Kumar, Rahul R; Rivera, Barbara B; Bi, Rui R; Piscuoglio, Salvatore S; Wen, Hannah Y HY; Lozada, John R JR; Gularte-Mérida, Rodrigo R; Cavallone, Luca L; , ; Rezoug, Zoulikha Z; Nguyen-Dumont, Tu T; Peterlongo, Paolo P; Tondini, Carlo C; Terkelsen, Thorkild T; Rønlund, Karina K; Boonen, Susanne E SE; Mannerma, Arto A; Winqvist, Robert R; Janatova, Marketa M; Rajadurai, Pathmanathan P; Xia, Bing B; Norton, Larry L; Robson, Mark E ME; Ng, Pei-Sze PS; Looi, Lai-Meng LM; Southey, Melissa C MC; Weigelt, Britta B; Soo-Hwang, Teo T; Tischkowitz, Marc M; Foulkes, William D WD; Reis-Filho, Jorge S JS
Publication Date: 2019
Variant appearance in text: PALB2: 3113G>A; Trp1038*
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Nones, K K; Johnson, J J; Newell, F F; Patch, A M AM; Thorne, H H; Kazakoff, S H SH; de Luca, X M XM; Parsons, M T MT; Ferguson, K K; Reid, L E LE; McCart Reed, A E AE; Srihari, S S; Lakis, V V; Davidson, A L AL; Mukhopadhyay, P P; Holmes, O O; Xu, Q Q; Wood, S S; Leonard, C C; , ; , ; , ; Beesley, J J; Harris, J M JM; Barnes, D D; Degasperi, A A; Ragan, M A MA; Spurdle, A B AB; Khanna, K K KK; Lakhani, S R SR; Pearson, J V JV; Nik-Zainal, S S; Chenevix-Trench, G G; Waddell, N N; Simpson, P T PT
Publication Date: 2019-07-01
Variant appearance in text: PALB2: 3113G>A; Trp1038*; rs180177132
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
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Journal Of Medical Genetics
Lopez-Perolio, Irene I; Leman, Raphaël R; Behar, Raquel R; Lattimore, Vanessa V; Pearson, John F JF; Castéra, Laurent L; Martins, Alexandra A; Vaur, Dominique D; Goardon, Nicolas N; Davy, Grégoire G; Garre, Pilar P; García-Barberán, Vanesa V; Llovet, Patricia P; Pérez-Segura, Pedro P; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Hruska, Kathleen S KS; Hsuan, Vickie V; Wu, Sitao S; Pesaran, Tina T; Karam, Rachid R; Vallon-Christersson, Johan J; Borg, Ake A; , ; Valenzuela-Palomo, Alberto A; Velasco, Eladio A EA; Southey, Melissa M; Vreeswijk, Maaike P G MPG; Devilee, Peter P; Kvist, Anders A; Spurdle, Amanda B AB; Walker, Logan C LC; Krieger, Sophie S; de la Hoya, Miguel M
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: PALB2: W1038X; rs180177132
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
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
American Journal Of Human Genetics
Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
Nature Communications
DeBoever, Christopher C; Tanigawa, Yosuke Y; Lindholm, Malene E ME; McInnes, Greg G; Lavertu, Adam A; Ingelsson, Erik E; Chang, Chris C; Ashley, Euan A EA; Bustamante, Carlos D CD; Daly, Mark J MJ; Rivas, Manuel A MA