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
Publication Date: 2023-05-08
Variant appearance in text: BRCA1: 5251C>T; Arg1751Ter
New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.
Scientific Reports
Gajda-Walczak, Aleksandra A; Potęga, Agnieszka A; Kowalczyk, Agata A; Sek, Slawomir S; Zięba, Sebastian S; Kowalik, Artur A; Kudelski, Andrzej A; Nowicka, Anna M AM
Publication Date: 2023-05-05
Variant appearance in text: BRCA1: 5251C>T; Arg1751*
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: BRCA1: 5251C>T; Arg1751Ter; rs80357123
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
Frontiers In Oncology
Mroczek, Magdalena M; Liu, Jakub J; Sypniewski, Mateusz M; Pieńkowski, Tadeusz T; Itrych, Bartosz B; Stojak, Joanna J; Pronobis-Szczylik, Bartosz B; Stępień, Maria M; Kaja, Elżbieta E; Dąbrowski, Maciej M; Suchocki, Tomasz T; Wojtaszewska, Marzena M; Zawadzki, Paweł P; Mach, Anna A; Sztromwasser, Paweł P; Król, Zbigniew J ZJ; Szyda, Joanna J; Dobosz, Paula P
Publication Date: 2023
Variant appearance in text: BRCA1: 5251C>T; Arg1751Ter
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: BRCA1: 5251C>T; Arg1751Ter
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
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: BRCA1: 5251C>T; Arg1751X
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
Publication Date: 2022
Variant appearance in text: BRCA1: 5251C>T; Arg1751Ter
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.
Frontiers In Pharmacology
Abreu, Renata B V RBV; Gomes, Thiago T TT; Nepomuceno, Thales C TC; Li, Xueli X; Fuchshuber-Moraes, Mateus M; De Gregoriis, Giuliana G; Suarez-Kurtz, Guilherme G; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA
Publication Date: 2022
Variant appearance in text: BRCA1: 5251C>T; R1751X
Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
Scientific Reports
Pallonen, Terhi Aino-Sofia TA; Lempiäinen, Salla Maria Matleena SMM; Joutsiniemi, Titta Kristiina TK; Aaltonen, Riitta Irmeli RI; Pohjola, Pia Erika PE; Kankuri-Tammilehto, Minna Kristiina MK
BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Genes
Le, Trong-Nhan N TN; Tran, Van-Khanh VK; Nguyen, Thu-Thuy TT; Vo, Nam S NS; Hoang, Tham H TH; Vo, Hoang-Long HL; Nguyen, Thanh-Hai T TT; Nguyen, Phuoc-Dung PD; Nguyen, Viet-Tien VT; Ta, Thanh-Van TV; Tran, Huy-Thinh HT
Evidence for accelerated aging in mammary epithelia of women carrying germline BRCA1 or BRCA2 mutations.
Nature Aging
Shalabi, Sundus F SF; Miyano, Masaru M; Sayaman, Rosalyn W RW; Lopez, Jennifer C JC; Jokela, Tiina A TA; Todhunter, Michael E ME; Hinz, Stefan S; Garbe, James C JC; Stampfer, Martha R MR; Kessenbrock, Kai K; Seewaldt, Victoria E VE; LaBarge, Mark A MA
Publication Date: 2021-09
Variant appearance in text: BRCA1: 5251C>T; R1751*
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
Frontiers In Oncology
Tran, Van Thuan VT; Nguyen, Sao Trung ST; Pham, Xuan Dung XD; Phan, Thanh Hai TH; Nguyen, Van Chu VC; Nguyen, Huu Thinh HT; Nguyen, Huu Phuc HP; Doan, Phuong Thao Thi PTT; Le, Tuan Anh TA; Nguyen, Bao Toan BT; Jasmine, Thanh Xuan TX; Nguyen, Duy Sinh DS; Nguyen, Hong-Dang Luu HL; Nguyen, Ngoc Mai NM; Do, Duy Xuan DX; Tran, Vu Uyen VU; Nguyen, Hue Hanh Thi HHT; Le, Minh Phong MP; Nguyen, Yen Nhi YN; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Tang, Hung Sang HS; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2021
Variant appearance in text: BRCA1: 5251C>T; Arg1751Ter
Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
CCNE1 copy number is a biomarker for response to combination WEE1-ATR inhibition in ovarian and endometrial cancer models.
Cell Reports. Medicine
Xu, Haineng H; George, Erin E; Kinose, Yasuto Y; Kim, Hyoung H; Shah, Jennifer B JB; Peake, Jasmine D JD; Ferman, Benjamin B; Medvedev, Sergey S; Murtha, Thomas T; Barger, Carter J CJ; Devins, Kyle M KM; D'Andrea, Kurt K; Wubbenhorst, Bradley B; Schwartz, Lauren E LE; Hwang, Wei-Ting WT; Mills, Gordon B GB; Nathanson, Katherine L KL; Karpf, Adam R AR; Drapkin, Ronny R; Brown, Eric J EJ; Simpkins, Fiona F
Genetic predisposition to male breast cancer in Poland.
Bmc Cancer
Szwiec, Marek M; Tomiczek-Szwiec, Joanna J; Kluźniak, Wojciech W; Wokołorczyk, Dominika D; Osowiecka, Karolina K; Sibilski, Robert R; Wachowiak, Małgorzata M; Gronwald, Jacek J; Gronwald, Helena H; Lubiński, Jan J; Cybulski, Cezary C; Narod, Steven A SA; Huzarski, Tomasz T
High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.
High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer.
Evaluation of Complete Pathological Regression after Neoadjuvant Chemotherapy in Triple-Negative Breast Cancer Patients with BRCA1 Founder Mutation Aided Bayesian A/B Testing Approach.
Diagnostics (Basel, Switzerland)
Kedzierawski, Piotr P; Macek, Pawel P; Ciepiela, Izabela I; Kowalik, Artur A; Gozdz, Stanislaw S
Publication Date: 2021-06-23
Variant appearance in text: BRCA1: 5251C>T; R1751*
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
Publication Date: 2021-07
Variant appearance in text: BRCA1: 5251C>T; Arg1751*
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
Publication Date: 2021-02-18
Variant appearance in text: BRCA1: 5251C>T; Arg1751Ter
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
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