Double heterozygotes for non-Caucasian families with mutations in BRCA-1 and BRCA-2 genes

Breast Journal

Volumn 12, Issue 3, 2006, Pages 216-220

  Choi, Doo Ho ^a   Lee, Min Hyuk ^a   Haffty, Bruce G ^b  

^a Soonchunhyang University   (South Korea)

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

BRCA 1; BRCA 2; Breast cancer; Genetic

Indexed keywords

CYCLOPHOSPHAMIDE; FLUOROURACIL; METHOTREXATE;

ADULT; ARTICLE; BREAST CANCER; CANCER ADJUVANT THERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER RADIOTHERAPY; CANCER SURGERY; CASE REPORT; CLINICAL FEATURE; DOUBLE HETEROZYGOTE; FAMILIAL CANCER; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LATISSIMUS DORSI FLAP; NEEDLE BIOPSY; ONCOGENE; PHYSICAL EXAMINATION; SEGMENTAL MASTECTOMY; SOUTH KOREA; TUMOR SUPPRESSOR GENE;

ADULT; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE DETECTION; HUMANS; KOREA; MUTATION;

EID: 33646260939     PISSN: 1075122X     EISSN: 15244741     Source Type: Journal    
DOI: 10.1111/j.1075-122X.2006.00245.x     Document Type: Article

References (34)

1. Wooster R Bignell G Lancaster J et al. Identification of the breast cancer susceptibility gene BRCA2 Nature 1995 378 789 92
2. Miki Y Swensen J Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 1994 266 66 71
3. Ramus SJ Friedman LS Gayther SA et al. A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2 Nat Genet 1997 15 14 15
4. Friedman E Bar-Sade Bruchim R Kruglikova A et al. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes Am J Hum Genet 1998 63 1224 27
5. Liede A Rehal P Vesprini D et al. A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2 Am J Hum Genet 1998 62 1543 44
6. Loader S Rowley PT Deleterious mutations of both BRCA1 and BRCA2 in three siblings Genet Test 1998 2 75 77
7. Randall TC Bell KA Rebane BA et al. Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient Gynecol Oncol 1998 70 432 34
8. Tesoriero A Andersen C Southey M et al. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation Am J Hum Genet 1999 65 567 69
9. Moslehi R Chu W Karlan B et al. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer Am J Hum Genet 2000 66 1259 72
10. Frank TS Deffenbaugh AM Reid JE et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals J Clin Oncol 2002 20 1480 90
11. Caldes T de la Hoya M Tosar A et al. A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes J Med Genet 2002 39 e44
12. Claus EB Petruzella S Matloff E et al. Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ JAMA 2005 293 964 69
13. Bell DW Erban J Sgroi DC et al. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2 Cancer Res 2002 62 2741 43
14. Leegte B van der Hout AH Deffenbaugh AM et al. Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations J Med Genet 2005 42 e20
15. Choi DH Lee MH Bale AE et al. Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients J Clin Oncol 2004 22 1638 45
16. Ford D Easton DF Bishop DT et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium Lancet 1994 343 692 95
17. Ford D Easton DF Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium Am J Hum Genet 1998 62 676 89
18. Romieu I Hernandez-Avila M Lazcano E et al. Breast cancer and lactation history in Mexican women Am J Epidemiol 1996 143 543 52
19. Fan S Ma YX Wang C et al. Role of direct interaction in BRCA1 inhibition of estrogen receptor activity Oncogene 2001 20 77 87
20. Fan S Wang J Yuan R et al. BRCA1 inhibition of estrogen receptor signaling in transfected cells Science 1999 284 1354 56
21. Delgado L Fernandez G Gonzalez A et al. Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression Cancer Genet Cytogenet 2002 133 24 28
22. Miesfeldt S Turner BL Lovell MA et al. A novel BRCA1 mutation in an identical twin pair with similar clinical histories Cancer Genet Cytogenet 1998 100 43 48
23. Armes JE Egan AJ Southey MC et al. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study Cancer 1998 83 2335 45
24. Noguchi S Kasugai T Miki Y et al. Clinicopathologic analysis of BRCA1- or BRCA2-associated hereditary breast carcinoma in Japanese women Cancer 1999 85 2200 205
25. Brodie SG Deng CX BRCA1-associated tumorigenesis: what have we learned from knockout mice? Trends Genet 2001 17 S18 S22
26. Greenblatt MS Chappuis PO Bond JP et al. TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution Cancer Res 2001 61 4092 97
27. Struewing JP Hartge P Wacholder S et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews N Engl J Med 1997 336 1401 8
28. Ludwig T Chapman DL Papaioannou VE et al. Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos Genes Dev 1997 11 1226 41
29. Xu X Qiao W Linke SP et al. Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis Nat Genet 2001 28 266 71
30. Suzuki A de la Pompa JL Hakem R et al. Brca2 is required for embryonic cellular proliferation in the mouse Genes Dev 1997 11 1242 52
31. Boyd M Harris F McFarlane R et al. A human BRCA1 gene knockout Nature 1995 375 541 42
32. Chen J Silver DP Walpita D et al. Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells Mol Cell 1998 2 317 28
33. Liu Y West SC Distinct functions of BRCA1 and BRCA2 in double-strand break repair Breast Cancer Res 2002 4 9 13
34. Moslehi R Russo D Phelan C et al. An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2 Clin Genet 2000 57 70 73