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: 1513A>T; K505*; rs397508877
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: 1513A>T; Lys505Ter
Pathologic Findings at Risk Reducing Surgery in BRCA and Non-BRCA Mutation Carriers: A Single-Center Experience.
Diagnostics (Basel, Switzerland)
Cassani, Chiara C; Rossi, Chiara C; Camnasio, Cristina Angela CA; Urtis, Mario M; Fiandrino, Giacomo G; Grasso, Maurizia M; Zanellini, Francesca F; Lucioni, Marco M; D'Ambrosio, Gioacchino G; Di Toro, Alessandro A; Rossi, Margherita M; Roccio, Marianna M; Ferrari, Alberta A; Secondino, Simona S; Nappi, Rossella Elena RE; Arbustini, Eloisa E; Paulli, Marco M; Spinillo, Arsenio A; Cesari, Stefania S
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: 1513A>T; Lys505X
Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
Frontiers In Oncology
Kadri, Mohammed Shaad N MSN; Patel, Komal M KM; Bhargava, Poonam A PA; Shah, Franky D FD; Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Patel, Prabhudas S PS; Shaikh, Mohammed Inayatullah MI; Shah, Krati K; Patel, Apurva A; Pandya, Shashank S; Vora, Hemangini H; Joshi, Chaitanya G CG; Joshi, Madhvi N MN
Publication Date: 2020
Variant appearance in text: BRCA1: 1513A>T; Lys505Ter
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19
Variant appearance in text: BRCA1: 1513A>T; Lys505Ter; rs397508877
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2019-12-31
Variant appearance in text: BRCA1: 1513A>T; Lys505Ter; rs397508877
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
International Journal Of Molecular Sciences
Concolino, Paola P; Gelli, Gianfranco G; Rizza, Roberta R; Costella, Alessandra A; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2019-07-12
Variant appearance in text: BRCA1: 1513A>T; Lys505Ter; rs397508877
Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.
Breast Cancer Research And Treatment
Son, Byung Ho BH; Ahn, Sei Hyun SH; Kim, Sung-Won SW; Kang, Eunyoung E; Park, Sue K SK; Lee, Min Hyuk MH; Noh, Woo-Chul WC; Kim, Lee Su LS; Jung, Yongsik Y; Kim, Ku Sang KS; Noh, Dong-Young DY; Moon, Byung-In BI; Suh, Young Jin YJ; Lee, Jeong Eon JE; Choi, Doo Ho DH; Kim, Sung Yong SY; Jung, Sung Hoo SH; Yom, Cha Kyong CK; Lee, Hyde H; Yang, Jung-Hyun JH; ,
A role of BRCA1 and BRCA2 germline mutations in breast cancer susceptibility within Sardinian population.
Bmc Cancer
Palomba, Grazia G; Loi, Angela A; Uras, Antonella A; Fancello, Patrizia P; Piras, Giovanna G; Gabbas, Attilio A; Cossu, Antonio A; Budroni, Mario M; Contu, Antonio A; Tanda, Francesco F; Farris, Antonio A; Orrù, Sandra S; Floris, Carlo C; Pisano, Marina M; Lovicu, Mario M; Santona, Maria Cristina MC; Landriscina, Gennaro G; Crisponi, Laura L; Palmieri, Giuseppe G; Monne, Maria M