156 related articles for article (PubMed ID: 32843487)
1. Biallelic variants in
Chirita-Emandi A; Andreescu N; Popa C; Mihailescu A; Riza AL; Plesea R; Ioana M; Arghirescu S; Puiu M
J Med Genet; 2021 Sep; 58(9):648-652. PubMed ID: 32843487
[TBL] [Abstract][Full Text] [Related]
2. Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
Keupp K; Hampp S; Hübbel A; Maringa M; Kostezka S; Rhiem K; Waha A; Wappenschmidt B; Pujol R; Surrallés J; Schmutzler RK; Wiesmüller L; Hahnen E
Mol Genet Genomic Med; 2019 Sep; 7(9):e863. PubMed ID: 31347298
[TBL] [Abstract][Full Text] [Related]
3. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL; Homma TK; Funari MFA; Lerario AM; Leal AM; Velloso EDRP; Malaquias AC; Jorge AAL
Eur J Med Genet; 2018 Mar; 61(3):130-133. PubMed ID: 29133208
[TBL] [Abstract][Full Text] [Related]
4. The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic
Hughes T; Rose AM
Front Oncol; 2023; 13():1278004. PubMed ID: 38146508
[TBL] [Abstract][Full Text] [Related]
5. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Sawyer SL; Tian L; Kähkönen M; Schwartzentruber J; Kircher M; ; ; Majewski J; Dyment DA; Innes AM; Boycott KM; Moreau LA; Moilanen JS; Greenberg RA
Cancer Discov; 2015 Feb; 5(2):135-42. PubMed ID: 25472942
[TBL] [Abstract][Full Text] [Related]
6. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Catucci I; Osorio A; Arver B; Neidhardt G; Bogliolo M; Zanardi F; Riboni M; Minardi S; Pujol R; Azzollini J; Peissel B; Manoukian S; De Vecchi G; Casola S; Hauke J; Richters L; Rhiem K; Schmutzler RK; Wallander K; Törngren T; Borg Å; Radice P; Surrallés J; Hahnen E; Ehrencrona H; Kvist A; Benitez J; Peterlongo P
Genet Med; 2018 Apr; 20(4):452-457. PubMed ID: 28837162
[TBL] [Abstract][Full Text] [Related]
7. Ablation of the Brca1-Palb2 Interaction Phenocopies Fanconi Anemia in Mice.
Park D; Bergin SM; Jones D; Ru P; Koivisto CS; Jeon YJ; Sizemore GM; Kladney RD; Hadjis A; Shakya R; Ludwig T
Cancer Res; 2020 Oct; 80(19):4172-4184. PubMed ID: 32732220
[TBL] [Abstract][Full Text] [Related]
8. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
Kuusisto KM; Bebel A; Vihinen M; Schleutker J; Sallinen SL
Breast Cancer Res; 2011 Feb; 13(1):R20. PubMed ID: 21356067
[TBL] [Abstract][Full Text] [Related]
9. Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Sepahi I; Faust U; Sturm M; Bosse K; Kehrer M; Heinrich T; Grundman-Hauser K; Bauer P; Ossowski S; Susak H; Varon R; Schröck E; Niederacher D; Auber B; Sutter C; Arnold N; Hahnen E; Dworniczak B; Wang-Gorke S; Gehrig A; Weber BHF; Engel C; Lemke JR; Hartkopf A; Nguyen HP; Riess O; Schroeder C
BMC Cancer; 2019 Aug; 19(1):787. PubMed ID: 31395037
[TBL] [Abstract][Full Text] [Related]
10. A Case Report of Germline Compound Heterozygous Mutations in the
Kwong A; Ho CYS; Shin VY; Au CH; Chan TL; Ma ESK
Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33477375
[TBL] [Abstract][Full Text] [Related]
11. Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.
Inagaki-Kawata Y; Yoshida K; Kawaguchi-Sakita N; Kawashima M; Nishimura T; Senda N; Shiozawa Y; Takeuchi Y; Inoue Y; Sato-Otsubo A; Fujii Y; Nannya Y; Suzuki E; Takada M; Tanaka H; Shiraishi Y; Chiba K; Kataoka Y; Torii M; Yoshibayashi H; Yamagami K; Okamura R; Moriguchi Y; Kato H; Tsuyuki S; Yamauchi A; Suwa H; Inamoto T; Miyano S; Ogawa S; Toi M
Commun Biol; 2020 Oct; 3(1):578. PubMed ID: 33067557
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Gabaldó Barrios X; Sarabia Meseguer MD; Marín Vera M; Sánchez Bermúdez AI; Macías Cerrolaza JA; Sánchez Henarejos P; Zafra Poves M; García Hernández MR; Cuevas Tortosa E; Aliaga Baño Á; Castillo Guardiola V; Martínez Hernández P; Tovar Zapata I; Martínez Barba E; Ayala de la Peña F; Alonso Romero JL; Noguera Velasco JA; Ruiz Espejo F
Fam Cancer; 2017 Oct; 16(4):477-489. PubMed ID: 28477318
[TBL] [Abstract][Full Text] [Related]
13. Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
Andrés R; Menao S; Arruebo M; Quílez E; Cardiel MJ
Breast Cancer Res Treat; 2019 Oct; 177(3):767-770. PubMed ID: 31292799
[TBL] [Abstract][Full Text] [Related]
14. Fanconi anemia: causes and consequences of genetic instability.
Kalb R; Neveling K; Nanda I; Schindler D; Hoehn H
Genome Dyn; 2006; 1():218-242. PubMed ID: 18724063
[TBL] [Abstract][Full Text] [Related]
15. Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
Cochran RL; Cidado J; Kim M; Zabransky DJ; Croessmann S; Chu D; Wong HY; Beaver JA; Cravero K; Erlanger B; Parsons H; Heaphy CM; Meeker AK; Lauring J; Park BH
Oncotarget; 2015 Sep; 6(28):25240-51. PubMed ID: 26246475
[TBL] [Abstract][Full Text] [Related]
16. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
Cherbal F; Salhi N; Bakour R; Adane S; Boualga K; Maillet P
Dis Markers; 2012; 32(6):343-53. PubMed ID: 22684231
[TBL] [Abstract][Full Text] [Related]
17. Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló L; López-Fernández A; Pineda M; Díez O; Del Valle J; Gutiérrez-Enríquez S; Teulé A; González S; Stjepanovic N; Salinas M; Capellá G; Brunet J; Lázaro C; Balmaña J;
Int J Cancer; 2019 Nov; 145(10):2682-2691. PubMed ID: 30927264
[TBL] [Abstract][Full Text] [Related]
18. Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Ragamin A; Yigit G; Bousset K; Beleggia F; Verheijen FW; de Wit MY; Strom TM; Dörk T; Wollnik B; Mancini GMS
Am J Med Genet A; 2020 Jun; 182(6):1378-1386. PubMed ID: 32212377
[TBL] [Abstract][Full Text] [Related]
19. Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.
Catts ZA; Baig MK; Milewski B; Keywan C; Guarino M; Petrelli N
Ann Surg Oncol; 2016 May; 23(5):1729-35. PubMed ID: 26727920
[TBL] [Abstract][Full Text] [Related]
20. Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E; Riise Stensland HMF; Hansen GÅM; Skarsfjord S; Jonsrud C; Ingebrigtsen M; Strømsvik N; Van Ghelue M
Sci Rep; 2019 Dec; 9(1):19986. PubMed ID: 31882575
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
