Changes in classification of genetic variants in BRCA1 and BRCA2

被引：0

作者：

Karin Kast

Pauline Wimberger

Norbert Arnold

机构：

[1] Technische Universität Dresden,Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus

[2] National Center for Tumor Diseases (NCT),Department of Obstetrics and Gynecology, University Hospital of Schleswig–Holstein

[3] Partner Site Dresden,undefined

[4] German Cancer Consortium (DKTK),undefined

[5] Dresden and German Cancer Research Center (DKFZ),undefined

[6] University Kiel,undefined

来源：

Archives of Gynecology and Obstetrics | 2018年 / 297卷

关键词：

Classification; Genetic variant; VUS; BRCA1; BRCA2;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：279 / 280

页数：1

共 50 条

[31] A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
Sanz, David J.
Acedo, Alberto
Infante, Mar
Duran, Mercedes
Perez-Cabornero, Lucia
Esteban-Cardenosa, Eva
Lastra, Enrique
Pagani, Franco
Miner, Cristina
Velasco, Eladio A.
CLINICAL CANCER RESEARCH, 2010, 16 (06) : 1957 - 1967
[32] A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
Mohammadi, Leila
Vreeswijk, Maaike P.
Oldenburg, Rogier
van den Ouweland, Ans
Oosterwijk, Jan C.
van der Hout, Annemarie H.
Hoogerbrugge, Nicoline
Ligtenberg, Marjolijn
Ausems, Margreet G.
van der Luijt, Rob B.
Dommering, Charlotte J.
Gille, Johan J.
Verhoef, Senno
Hogervorst, Frans B.
van Os, Theo A.
Garcia, Encarna Gomez
Blok, Marinus J.
Wijnen, Juul T.
Helmer, Quinta
Devilee, Peter
van Asperen, Christi J.
van Houwelingen, Hans C.
BMC CANCER, 2009, 9
[33] A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
Easton, Douglas F.
Deffenbaugh, Amie M.
Pruss, Dmitry
Frye, Cynthia
Wenstrup, Richard J.
Allen-Brady, Kristina
Tavtigian, Sean V.
Monteiro, Alvaro N. A.
Iversen, Edwin S.
Couch, Fergus J.
Goldgar, David E.
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (05) : 873 - 883
[34] Guidelines for Splicing Analysis in Molecular Diagnosis Derived from a Set of 327 Combined In Silico/In Vitro Studies on BRCA1 and BRCA2 Variants
Houdayer, Claude
Caux-Moncoutier, Virginie
Krieger, Sophie
Barrois, Michel
Bonnet, Francoise
Bourdon, Violaine
Bronner, Myriam
Buisson, Monique
Coulet, Florence
Gaildrat, Pascaline
Lefol, Cedrick
Leone, Melanie
Mazoyer, Sylvie
Muller, Danielle
Remenieras, Audrey
Revillion, Francoise
Rouleau, Etienne
Sokolowska, Joanna
Vert, Jean-Philippe
Lidereau, Rosette
Soubrier, Florent
Sobol, Hagay
Sevenet, Nicolas
Bressac-de Paillerets, Brigitte
Hardouin, Agnes
Tosi, Mario
Sinilnikova, Olga M.
Stoppa-Lyonnet, Dominique
HUMAN MUTATION, 2012, 33 (08) : 1228 - 1238
[35] Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
O'Mahony, Denise G.
Ramus, Susan J.
Southey, Melissa C.
Meagher, Nicola S.
Hadjisavvas, Andreas
John, Esther M.
Hamann, Ute
Imyanitov, Evgeny N.
Andrulis, Irene L.
Sharma, Priyanka
Daly, Mary B.
Hake, Christopher R.
Weitzel, Jeffrey N.
Jakubowska, Anna
Godwin, Andrew K.
Arason, Adalgeir
Bane, Anita
Simard, Jacques
Soucy, Penny
Caligo, Maria A.
Mai, Phuong L.
Claes, Kathleen B. M.
Teixeira, Manuel R.
Chung, Wendy K.
Lazaro, Conxi
Hulick, Peter J.
Toland, Amanda E.
Pedersen, Inge Sokilde
Neuhausen, Susan L.
Vega, Ana
de la Hoya, Miguel
Nevanlinna, Heli
Dhawan, Mallika
Zampiga, Valentina
Danesi, Rita
Varesco, Liliana
Gismondi, Viviana
Vellone, Valerio Gaetano
James, Paul A.
Janavicius, Ramunas
Nikitina-Zake, Liene
Nielsen, Finn Cilius
van Overeem Hansen, Thomas
Pejovic, Tanja
Borg, Ake
Rantala, Johanna
Offit, Kenneth
Montagna, Marco
Nathanson, Katherine L.
Domchek, Susan M.
BRITISH JOURNAL OF CANCER, 2023, 128 (12) : 2283 - 2294
[36] Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA
Francisco Quiles
Mireia Menéndez
Eva Tornero
Jesús del Valle
Àlex Teulé
Sarai Palanca
Angel Izquierdo
Carolina Gómez
Olga Campos
Raül Santamaria
Joan Brunet
Gabriel Capellá
Lídia Feliubadaló
Conxi Lázaro
Breast Cancer Research and Treatment, 2016, 155 : 253 - 260
[37] Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls
Park, Ji Soo
Nam, Eun Ji
Park, Hyung Seok
Han, Jung Woo
Lee, Jung-Yun
Kim, Jieun
Kim, Tae Il
Lee, Seung-Tae
CANCER RESEARCH AND TREATMENT, 2017, 49 (04): : 1012 - 1021
[38] Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas
Kramer, C. J. H.
Lanjouw, L.
Ruano, D.
ter Elst, A.
Santandrea, G.
Solleveld-Westerink, N.
Werner, N.
van Der Hout, A. H.
de Kroon, C. D.
van Wezel, T.
Berger, L. P., V
Jalving, M.
Wesseling, J.
Smit, V. T. H. B. M.
de Bock, G. H.
van Asperen, C. J.
Mourits, M. J. E.
Vreeswijk, M. P. G.
Bart, J.
Bosse, T.
JOURNAL OF PATHOLOGY, 2024, 262 (02): : 137 - 146
[39] Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity
Walker, Logan C.
Whiley, Phillip J.
Couch, Fergus J.
Farrugia, Daniel J.
Healey, Sue
Eccles, Diana M.
Lin, Feng
Butler, Samantha A.
Goff, Sheila A.
Thompson, Bryony A.
Lakhani, Sunil R.
Da Silva, Leonard M.
Tavtigian, Sean V.
Goldgar, David E.
Brown, Melissa A.
Spurdle, Amanda B.
HUMAN MUTATION, 2010, 31 (06) : E1484 - E1505
[40] Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation
Whiley, Phillip J.
Parsons, Michael T.
Leary, Jennifer
Tucker, Kathy
Warwick, Linda
Dopita, Belinda
Thorne, Heather
Lakhani, Sunil R.
Goldgar, David E.
Brown, Melissa A.
Spurdle, Amanda B.
PLOS ONE, 2014, 9 (01):

← 1 2 3 4 5 →