Laboratory Staff

References

Here are our most recent publications.

1. Shattuck-Eidens D, McClure M, Simard J et al. A collaborative survey of 82 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: Implications for presymptomatic testing and screening. Journal of the American Medical Association 1995; 273:535-541.

2. Tavtigian SV, Simard J, Rommens J et al. The BRCA2 gene and mutations in 13q-linked kindreds. Nature Genetics 1996; 12:333-337.

3. Neuhausen SL, Gilewski T, Norton L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genetics 1996; 13:126-128.

4. OFFIT K, Gilewski T, McGuire P, et al. Germline BRCA1 185delAG mutations in Jewish women affected by breast cancer. Lancet 1996; 347:1643-45.

5. Laken SJ, Petersen GM, Gruber SB, et al. Familial colorectal cancer in Askenazim due to a hypermutable tract in APC. Nature Genetics 1997; 17:79-83.

6. Redston M, Nathanson KC, Yuan ZQ, et al. The APC I1307K allele and breast cancer risk. Nature Genetics 1998; 20:13-14.

7. Foulkes WD, Thiffault I, Gruber SB, et al. The founder mutation MSH2*1906G>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. American Journal of Human Genetics 2002; 71:1395-1412.

8. Gruber SB, Ellis NA, Scott KK, et al. BLM heterozygosity and the risk of colorectal cancer. Science 2002; 297:2013.

9. Shaag A, Walsh T, Renbaum P, et al. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Human Molecular Genetics. 2005; 14: 555-63.

10. Neuhausen SL, Mazoyer S, Friedman L, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. American Journal of Human Genetics 1996; 58:271-280.

11. Neuhausen SL, Godwin AK, Gershoni-Baruch R, et al. Haplotype/Phenotype Analysis of 9 Recurrent BRCA2 Mutations in 111 Families: Results of an International Study. American Journal of Human Genetics 1998; 62:1381-1388.

12. Mitra N, Ye TZ, Smith A, et al. Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping. Cancer Research 2004; 64: 8116-25.

13. Ellis NA, Kichhoff T, Mitra N, Ye TZ, Chuai S, Huang H, Nafa K, Norton L, Neuhausen S, Gordon D, Struewing JP, Narod S, Offit K. Localization of Breast Cancer Susceptibility Loci by Genome-Wide SNP Linkage Disequilibrium Mapping (Submitted).

14. Satagopan J, Verbel D, Venkatraman ES, OFFIT K, Begg C. Two-stage designs for gene-disease association studies. Biometrics 2002; 58:163-170

15. Pasche B, Luo Y, Rao PH, Nimer S, Dmitrovsky E, Caron P, Luzzatto L, OFFIT K, Cordon-Cardo C, Renault B, Satagopan JM, Murty VVS, Massague J. Type I TGF-ƒÒ receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract. Cancer Research 1998; 58:2727-2732.

16. Pasche B, Brian Y, Reich J, Rademaker A, Kolachana P, OFFIT K. TƒÒR-I(6A) association with colorectal cancer: a new twist? Cancer Research 2001; 61:8351-8352.

17. Kaklamani VG, Hou N, Bian Y, Reich J, OFFIT K, Michel LS, Rubinstein WS, Rademaker A, Pasche B. TGFBR1*6A and cancer risk: a meta-analysis of seven case-control studies. Journal of Clinical Oncology 2003; 21:3236-43.

18. Pasche B, Kaklamani V, Hou N, Young T, Rademaker A, Peterlongo P, Ellis N, OFFIT K, Caldes T, Reiss M, Zheng T. TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies. Journal of Clinical Oncology. 2004; 22:756-8.

19. OFFIT K, Gilad S, Paglin S, Kolachana P, Roisman LC, Nafa K, Yeugelewitz V, Gonzales M, Robson M, McDermott D, Pierce HH, Kauff ND, Einat P, Jhanwar S, Satagopan JM, Oddoux C, Ellis N, Skaliter R, Yahalom J. Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers. Clinical Cancer Research 2002; 8:3813-3819.

20. OFFIT K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N. Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Medical Genetics 2003; 4:1-7.

21. Kirchhoff T, Satagopan JM, Kauff ND, Huang H, Kolachana P, Palmer C, Rapaport H, Nafa K, Ellis NA, OFFIT K. Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. Journal of the National Cancer Institute 2004; 96: 2-3.

22. Kirchhoff T, Kauff ND, Mitra N, Nafa K, Huang H, Palmer C, Gulati T, Donat S, Robson ME, Ellis NA, OFFIT K. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clinical Cancer Research 2004; 10:2918-21.

23. Yossepowitch O, Olvera N, Satagopan JM, Huang H, Jhanwar S, Rapaport B, Boyd J, OFFIT K. BRCA1 and BRCA2 germline mutations in lymphoma patients. Leukemia and Lymphoma 2003; 44:127-131

24. Teruya-Feldstein J, Greene J, Cohen L, Popplewell L, Ellis NA, OFFIT K. Analysis of mismatch repair defects in the familial occurrence of lymphoma and colorectal cancer. Leukemia and Lymphoma 2002; 43:1619-1626

25. Baumler C, Duan F, Onel K, Rapaport B, Jhanwar S, OFFIT K, Elkon KB. Differential recruitment of caspase 8 to cFlip confers sensitivity or resistance to Fas-mediated apoptosis in a subset of familial lymphoma patients. Leukemia Research 2003; 27:841-851.

26. OFFIT K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Journal of the National Cancer Institute 2003; 95:1548-1551.

27. Robson M, Rajan P, Rosen PP, Gilewski T, Hirschaut Y, Pressman P, Haas B, Norton L, OFFIT K. BRCA-associated Breast Cancer: Absence of a Characteristic Immunophenotype. Cancer Research 1998; 58:1839-1842.

28. Robson M, M, Gilewski T, Haas B, Levine D, Borgen P, Rajan P, Rosen PP, Hirschaut Y, Pressmen P, Lesser ML, Norton L, OFFIT K. BRCA-associated Breast Cancer in Young Jewish Women. Journal of Clinical Oncology 1998; 16:1642-1649.

29. Robson M, Levin D, Federici M, Satagopan J, Bogolminy F, Heerdt A, Borgen P, McCormick BM, Hudis C, Norton L, Boyd J, OFFIT K. Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA founder mutations. Journal of the National Cancer Institute 1999; 91:2112-2117.

30. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, Ellis N, Hensley M, Boyd J, Borgen P, Norton L, OFFIT K. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. Journal of Clinical Oncology; 2002; 20, 1260-1268.

31. Robson ME, Chappuis PO, Satagopan J, Wong N, Boyd J, Goffin JR, Hudis C, Roberge D, Norton L, Begin LR, OFFIT K, Foulkes WD. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Research 2003; 6:8-17.

32. Kauff ND, Brogi E, Scheuer L, Pathak DR, Borgen PI, Hudis CA, OFFIT K, Robson ME. Epithelial lesions in prophylactic mastectomy specimens from women with BRCA Mutations. Cancer 2003; 97:1601-1608.

33. Robles-Diaz L, Goldfrank D, Kauff N, Robson M, OFFIT K. Hereditary ovarian cancer in Ashkenazi Jews. Familial Cancer. 2004; 3:259-64.

34. Robson M, OFFIT K, Barakat RR, Soslow RA, Boyd J. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. Journal of Clinical Oncology 2003; 21:4222-7.

35. Robson ME, Glogowski E, Sommer G, Antonescu CR, Khedoudja N, Maki RG, Ellis N, Besmer P, Brennan M, OFFIT K. Pleomorphic expression of a germline kit mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. accepted, Clinical Cancer Research 2004;10:1250-4.

36. Peterlongo P, Nafa K, Lerman GS, Glogowski E, Shia J, Ye TZ, Markowitz AJ, Guillem J, Kolachana P, Boyd JA, OFFIT K, Ellis NA. MSH6 Germline mutations are rare in colorectal cancer families. International Journal of Cancer 2003; 107:571-9.

37. King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Risks of breast and ovarian cancer due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302:643-646.

38. OFFIT K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Journal of the National Cancer Institute 2003; 95:1548-1551.

39. Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, OFFIT K. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. New England Journal of Medicine 2002; 346:1609-1615.

40. Scheuer L, Kauff N, Robson M, Kelly B, Barakat R, Satagopan J, Ellis N, Hensley M, Boyd J, Borgen P, Norton L, OFFIT K. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. Journal of Clinical Oncology; 2002; 20, 1260-1268.

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