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: 2978C>T; Thr993Met; rs61756146
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: PALB2: T993M; rs61756146
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18
Variant appearance in text: PALB2: 2978C>T; Thr993Met
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Journal Of Medical Genetics
Ng, Pei Sze PS; Boonen, Rick Acm RA; Wijaya, Eldarina E; Chong, Chan Eng CE; Sharma, Milan M; Knaup, Sabine S; Mariapun, Shivaani S; Ho, Weang Kee WK; Lim, Joanna J; Yoon, Sook-Yee SY; Mohd Taib, Nur Aishah NA; See, Mee Hoong MH; Li, Jingmei J; Lim, Swee Ho SH; Tan, Ern Yu EY; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Veronique Kiat-Mien VK; van Dam, Rob Martinus RM; Rahmat, Kartini K; Yip, Cheng Har CH; Carvalho, Sara S; Luccarini, Craig C; Baynes, Caroline C; Dunning, Alison M AM; Antoniou, Antonis A; van Attikum, Haico H; Easton, Douglas F DF; Hartman, Mikael M; Teo, Soo Hwang SH
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11
Variant appearance in text: PALB2: 2978C>T; Thr993Met; rs61756146