Case report: De novo BRCA2 gene mutation in a 35-year-old woman with breast cancer

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 427-430

  Marshall, M ^a   Solomon, S ^a   Lawrence Wickerham, D ^a  

^a ALLEGHENY GENERAL HOSPITAL   (United States)

Author keywords

BRCA2; De novo; New mutation

Indexed keywords

BRCA2 PROTEIN; CYCLOPHOSPHAMIDE; DOXORUBICIN; ESTROGEN RECEPTOR; PACLITAXEL; TAMOXIFEN;

ADULT; ARTICLE; BREAST CANCER; CASE REPORT; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HUMAN; HYSTERECTOMY; MAMMOGRAPHY; NEEDLE BIOPSY; ONSET AGE; PARTIAL MASTECTOMY; PRIORITY JOURNAL; SALPINGOOOPHORECTOMY; SEQUENCE ANALYSIS;

BRCA2 PROTEIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; PEDIGREE;

EID: 70449455405     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01246.x     Document Type: Article

References (13)

1. BRACAnalysis® technical specifications Updated 04 August 2006. http://www.myriadtests.com/provider/doc/BRACAnalysis-Technical-Specifica tions.pdf, Myriad Genetic Laboratories, Inc, Retrieved April 18, 2008, from
2. http://www.nsgc.org, National Society of Genetic Counselors, Inc, Retrieved February 15, 2008, from
3. Eubanks S, LeRoy B, Austin J. Ethics Subcommittee of NSGC formal consultation response. Retrieved September 26, 2007
4. Code of Ethics. Adopted 1/92 by the National Society of Genetic Counselors, Inc, revised 12/04, 1/06. http://www.nsgc.org/about/codeEthics.cfm, National Society of Genetics Counselors, Inc, Retrieved September 4, 2007, from
5. http://www.identigene.com, Gene, Retrieved February 15, 2008, from
6. Tesoriero A, Anderson C, Southey M. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 1999, 65:567-569.
7. Robson M, Scheuer L, Nafa K. Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. J Med Genet 1999, 36:664-669. 2002: 39: 126-128; Comment on:
8. van der Luijt RB, van Zon P, Jansen RP. De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. J Med Genet 2001, 38:102-105.
9. http://research.nhgri.nih.gov/projects/bic/index.shtml, National Human Genome Research Institute, National Institutes of Health, Retrieved June 27, 2007, from
10. Thompson D, Easton D. on behalf of the Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68(2):410-419.
11. Nowacka-Zawisza M, Brys M, Kulig A, Krajewska W. Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer. Pathol Int 2007, 58:275-281.
12. Wacholder S, Hartge P, Struewing JP. The kin-cohort study for estimating penetrance. Am J Epidemiol 1998, 148:623-629.
13. Struewing JP, Hartge P, Wacholder S. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997, 336:1401-1408.