Caution should be used when interpreting alterations affecting the exon 3 of the BRCA2 gene in breast/ovarian cancer families [1]

Journal of Clinical Oncology

Volumn 25, Issue 31, 2007, Pages 5035-5036

  Díez, Orland ^a   Gutiérrez Enríquez, Sara ^a   Ramón, Teresa ^b   Cajal, ^b   Alonso, Carmen ^b   Balmaña, Judith ^a   Llort, Gemma ^c  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

BREAST CANCER; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LETTER; NONHUMAN; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; BREAST NEOPLASMS; EXONS; FEMALE; GENES, BRCA2; GENETIC COUNSELING; GENETIC SCREENING; HEAD AND NECK NEOPLASMS; HUMANS; INDEL MUTATION; MALE; MIDDLE AGED; OVARIAN NEOPLASMS;

EID: 36849065812     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2007.13.4346     Document Type: Letter

References (12)

1. Machado PM, Brandao RD, Cavaco MB, et al: Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: Evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25:2027-2034, 2007
2. Nordling M, Karlsson P, Wahlstrom J, et al: A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Res 58:1372-1375, 1998
3. Koul A, Nilbert M, Borg A: A somatic BRCA2 mutation in RER+ endometrial carcinomas that specifically deletes the amino-terminal transactivation domain. Genes Chromosomes Cancer 24:207-212, 1999
4. Santarosa M, Dolcetti R, Magri MD, et al: BRCA1 and BRCA2 genes: Role in hereditary breast and ovarian cancer in Italy. Int J Cancer 83:5-9, 1999
5. Santarosa M, Viel A, Boiocchi M: Splice variant lacking the transactivation domain of the BRCA2 gene and mutations in the splice acceptor site of intron 2. Genes Chromosomes Cancer 26:381-382, 1999
6. Milner J, Ponder B, Hughes-Davies L, et al: Transcriptional activation functions in BRCA2. Nature 386:772-773, 1997
7. Breast Cancer Information Core: http: //www.nhgri.nih.gov/ Intramural_reserach/Lab_transfer/Bic/
8. Goldgar DE, Easton DF, Deffenbaugh AM, et al: Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2. Am J Hum Genet 75:535-544, 2004
9. Casilli F, Tournier I, Sinilnikova OM, et al: The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 43:e49, 2006
10. Woodward AM, Davis TA, Silva AG, et al: Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J Med Genet 42:e31, 2005
11. Thomassen M, Gerdes AM, Cruger D, et al: Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Cancer Genet Cytogenet 168:168-171, 2006
12. Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, et al: Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103:103-107, 2007