Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Biomedicines
Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS
Germline multigene panel testing of patients with endometrial cancer.
Oncology Letters
Kral, Jan J; Jelinkova, Sandra S; Zemankova, Petra P; Vocka, Michal M; Borecka, Marianna M; Cerna, Leona L; Cerna, Marta M; Dostalek, Lukas L; Duskova, Petra P; Foretova, Lenka L; Havranek, Ondrej O; Horackova, Klara K; Hovhannisyan, Milena M; Chvojka, Stepan S; Kalousova, Marta M; Kosarova, Marcela M; Koudova, Monika M; Krutilkova, Vera V; Machackova, Eva E; Nehasil, Petr P; Novotny, Jan J; Otahalova, Barbora B; Puchmajerova, Alena A; Safarikova, Marketa M; Slama, Jiri J; Stranecky, Viktor V; Subrt, Ivan I; Tavandzis, Spiros S; Zikan, Michal M; Zima, Tomas T; Soukupova, Jana J; Kleiblova, Petra P; Kleibl, Zdenek Z; Janatova, Marketa M
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: CHEK2: 444+1G>A; rs121908698
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
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
Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Frontiers In Genetics
Doraczynska-Kowalik, Anna A; Michalowska, Dagmara D; Matkowski, Rafal R; Czykalko, Ewelina E; Blomka, Dorota D; Semeniuk, Mariola M; Abrahamowska, Mariola M; Janus-Szymanska, Gabriela G; Mlynarczykowska, Paulina P; Szynglarewicz, Bartlomiej B; Pawlak, Ireneusz I; Maciejczyk, Adam A; Laczmanska, Izabela I
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Frontiers In Genetics
Jürgens, Hannes H; Roht, Laura L; Leitsalu, Liis L; Nõukas, Margit M; Palover, Marili M; Nikopensius, Tiit T; Reigo, Anu A; Kals, Mart M; Kallak, Kersti K; Kütner, Riina R; Budrikas, Kai K; Kuusk, Saskia S; Valvere, Vahur V; Laidre, Piret P; Toome, Kadri K; Rekker, Kadri K; Tooming, Mikk M; Ülle Murumets, ; Kahre, Tiina T; Kruuv-Käo, Krista K; Õunap, Katrin K; Padrik, Peeter P; Metspalu, Andres A; Esko, Tõnu T; Fischer, Krista K; Tõnisson, Neeme N
Publication Date: 2022
Variant appearance in text: CHEK2: 444+1G>A; rs121908698
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
International Journal Of Molecular Sciences
Dragoš, Vita Šetrajčič VŠ; Strojnik, Ksenija K; Klančar, Gašper G; Škerl, Petra P; Stegel, Vida V; Blatnik, Ana A; Banjac, Marta M; Krajc, Mateja M; Novaković, Srdjan S
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
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Human Mutation
DeRoin, Lia L; Cavalcante de Andrade Silva, Marcela M; Petras, Kristin K; Arndt, Kelly K; Phillips, Nathaniel N; Wanjari, Pankhuri P; Subramanian, Hari Prasanna HP; Montes, David D; McElherne, James J; Theissen, Megan M; Briese, Renee R; Das, Soma S; Godley, Lucy A LA; Segal, Jeremy J; Del Gaudio, Daniela D; Fitzpatrick, Carrie C; Churpek, Jane E JE
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Therapeutic Advances In Medical Oncology
Emelyanova, Marina M; Pudova, Elena E; Khomich, Darya D; Krasnov, George G; Popova, Anna A; Abramov, Ivan I; Mikhailovich, Vladimir V; Filipenko, Maxim M; Menshikova, Sofia S; Tjulandin, Sergey S; Pokataev, Ilya I
Publication Date: 2022
Variant appearance in text: CHEK2: 444+1G>A; rs121908698
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
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
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
CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects.
Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.
Cancers
Nguyen-Dumont, Tú T; Dowty, James G JG; Steen, Jason A JA; Renault, Anne-Laure AL; Hammet, Fleur F; Mahmoodi, Maryam M; Theys, Derrick D; Rewse, Amanda A; Tsimiklis, Helen H; Winship, Ingrid M IM; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Southey, Melissa C MC
Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
Cancers
Łukomska, Alicja A; Menkiszak, Janusz J; Gronwald, Jacek J; Tomiczek-Szwiec, Joanna J; Szwiec, Marek M; Jasiówka, Marek M; Blecharz, Paweł P; Kluz, Tomasz T; Stawicka-Niełacna, Małgorzata M; Mądry, Radosław R; Białkowska, Katarzyna K; Prajzendanc, Karolina K; Kluźniak, Wojciech W; Cybulski, Cezary C; Dębniak, Tadeusz T; Huzarski, Tomasz T; Tołoczko-Grabarek, Aleksandra A; Byrski, Tomasz T; Baszuk, Piotr P; Narod, Steven A SA; Lubiński, Jan J; Jakubowska, Anna A
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
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
Common germline-somatic variant interactions in advanced urothelial cancer.
Nature Communications
Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Scientific Reports
Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Brosda, Sandra S; Patel, Kalpana K; Koufariotis, Lambros T LT; Oey, Harald H; Nones, Katia K; Wood, Scott S; Pearson, John V JV; Lonie, James M JM; Arneil, Melissa M; Atkinson, Victoria V; Smithers, B Mark BM; Waddell, Nicola N; Barbour, Andrew P AP
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
Cancers
Rogoża-Janiszewska, Emilia E; Malińska, Karolina K; Cybulski, Cezary C; Jakubowska, Anna A; Gronwald, Jacek J; Huzarski, Tomasz T; Lener, Marcin M; Górski, Bohdan B; Kluźniak, Wojciech W; Rudnicka, Helena H; Akbari, Mohammad R MR; Kashyap, Aniruddh A; Narod, Steven A SA; Lubiński, Jan J; Dębniak, Tadeusz T; On Behalf Of The Polish Hereditary Breast Cancer Consortium,
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: CHEK2: 444+1G>A; rs121908698
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
International Journal Of Molecular Sciences
Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV
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
Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
Jco Precision Oncology
Hu, Chunling C; LaDuca, Holly H; Shimelis, Hermela H; Polley, Eric C EC; Lilyquist, Jenna J; Hart, Steven N SN; Na, Jie J; Thomas, Abigail A; Lee, Kun Y KY; Davis, Brigette Tippin BT; Black, Mary Helen MH; Pesaran, Tina T; Goldgar, David E DE; Dolinsky, Jill S JS; Couch, Fergus J FJ
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
International Journal Of Cancer
Nurmi, Anna A; Muranen, Taru A TA; Pelttari, Liisa M LM; Kiiski, Johanna I JI; Heikkinen, Tuomas T; Lehto, Sini S; Kallioniemi, Anne A; Schleutker, Johanna J; Bützow, Ralf R; Blomqvist, Carl C; Aittomäki, Kristiina K; Nevanlinna, Heli H
Publication Date: 2019-11-15
Variant appearance in text: CHEK2: 444+1G>A; rs121908698
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Cancers
Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M