Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family

Familial Cancer

Volumn 7, Issue 2, 2008, Pages 125-133

  Kwong, Ava ^a,b,c   Wong, L P ^c   Chan, K Y K ^b   Ma, E S K ^c   Khoo, U S ^b   Ford, J M ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c HONG KONG SANATORIUM AND HOSPITAL   (Hong Kong)

Author keywords

BRCA1; BRCA2; Chinese breast cancer; Variant of unknown significance; VUS

Indexed keywords

BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CASE REPORT; CHINESE; DNA EXTRACTION; FAMILIAL CANCER; FAMILY HISTORY; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GENETIC TRAIT; GENETIC VARIABILITY; GERM LINE; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA EXTRACTION; RNA SPLICING; STOMACH CANCER;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; POINT MUTATION; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 45749132611     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-007-9155-7     Document Type: Article

References (44)

1. Miki Y et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66-71
2. Wooster R et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265(5181):2088-2090
3. Ford D, Easton DF, Peto J (1995) Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 57(6):1457-1462
4. Claus EB et al (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11):2318-2324
5. Ford D et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676-689
6. Struewing JP et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336(20):1401-1408
7. Claes K et al (2004) BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. Br J Cancer 90(6):1244-1251
8. Frank TS et al (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 20(6):1480-1490
9. Hamann U et al (2003) Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany. Eur J Hum Genet 11(6):464-467
10. Ikeda DM et al (2001) Development, standardization, and testing of a lexicon for reporting contrast-enhanced breast magnetic resonance imaging studies. J Magn Reson Imaging 13(6):889-895
11. Nanda R et al (2005) Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 294(15):1925-1933
12. Panguluri RC et al (1999) BRCA1 mutations in African Americans. Hum Genet 105(1-2):28-31
13. Tiling R et al (2001) 18F-FDG PET and 99mTc-sestamibi scintimammography for monitoring breast cancer response to neoadjuvant chemotherapy: a comparative study. Eur J Nucl Med 28(6):711-720
14. Sng KW et al (2000) Spectrum of abnormal mammographic findings and their predictive value for malignancy in Singaporean women from a population screening trial. Ann Acad Med Singapore 29(4):457-462
15. Suter NM et al (2004) BRCA1 and BRCA2 mutations in women from Shanghai China. Cancer Epidemiol Biomarkers Prev 13(2):181-189
16. Zhi X et al (2002) BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum Mutat 20(6):474
17. Zhou P, Gautam S, Recht A (2007) Factors affecting outcome for young women with early stage invasive breast cancer treated with breast-conserving therapy. Breast Cancer Res Treat 101(1):51-57
18. de Barros N et al (2001) Cutaneous myiasis of the breast: mammographic and us features-report of five cases. Radiology 218(2):517-520
19. Goldgar DE et al (2004) Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 75(4):535-544
20. Ng K, Yip K, Choi C (2003) A case of oral myiasis due to Chyrsomya bezziana. Hong Kong Med J 9:454-456
21. Hu Z et al (2003) The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives. Hum Mutat 22(1):104
22. Wappenschmidt B et al (2005) Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer. Breast Cancer Res 7(5):R775-R779
23. Bunyan DJ et al (2004) Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 91(6):1155-1159
24. Hogervorst FB et al (2003) Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63(7):1449-1453
25. Sellner LN, Taylor GR (2004) MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23(5):413-419
26. Lazovich D et al (1999) Breast conservation therapy in the United States following the 1990 National Institutes of Health Consensus Development Conference on the treatment of patients with early stage invasive breast carcinoma. Cancer 86(4):628-637
27. Schuelke M (2000) An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 18(2):233-234
28. Yau TK et al (2002) Breast conservation treatment in Hong Kong-early results of 203 patients: retrospective study. Hong Kong Med J 8(5):322-328
29. Reese MG et al (1997) Improved splice site detection in Genie. J Comput Biol 4(3):311-323
30. Drew PJ et al (2001) Evaluation of response to neoadjuvant chemoradiotherapy for locally advanced breast cancer with dynamic contrast-enhanced MRI of the breast. Eur J Surg Oncol 27(7):617-620
31. Campos B et al (2003) RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat 22(4):337
32. Durocher F et al (1996) Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Hum Mol Genet 5(6):835-842
33. Hartmann LC et al (1999) Clinical options for women at high risk for breast cancer. Surg Clin North Am 79(5):1189-1206
34. Phelan CM et al (2005) Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 42(2):138-146
35. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90(1-2):41-54
36. Chen X et al (2006) Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Hum Mutat 27(5):427-435
37. Bieche I, Lidereau R (1999) Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue. Cancer Res 59(11):2546-2550
38. Brinkman BM (2004) Splice variants as cancer biomarkers. Clin Biochem 37(7):584-594
39. Lu M et al (1996) Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells. Cancer Res 56(20):4578-4581
40. The Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91(15):1310-1316
41. Jakubowska A et al (2002) BRCA2 gene mutations in families with aggregations of breast and stomach cancers. Br J Cancer 87(8):888-891
42. Li N et al (2006) BRCA1 germline mutations in Chinese patients with hereditary breast and ovarian cancer. Int J Gynecol Cancer 16(Suppl 1):172-178
43. Hong CC et al (2004) Cytochrome P450 1A2 (CYP1A2) activity, mammographic density, and oxidative stress: a cross-sectional study. Breast Cancer Res 6(4):R338-R351
44. Cheung KL et al (2001) Palpable asymmetrical thickening of the breast: a clinical, radiological and pathological study. Br J Radiol 74(881):402-406