Familial cancer syndromes and clusters

British Medical Bulletin

Volumn 50, Issue 3, 1994, Pages 624-639

  Birch, J M ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER SUSCEPTIBILITY; FAMILIAL CANCER; GENE CLUSTER; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MALIGNANT TRANSFORMATION; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

BASAL CELL NEVUS SYNDROME; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FAMILY HEALTH; FEMALE; HIPPEL-LINDAU DISEASE; HUMAN; LI-FRAUMENI SYNDROME; MALE; NEOPLASMS; NEUROFIBROMATOSIS 1; ONCOGENES; PEDIGREE;

EID: 0028095433     PISSN: 00071420     EISSN: 14718391     Source Type: Journal    
DOI: 10.1093/oxfordjournals.bmb.a072913     Document Type: Article

References (51)

1. Easton D, Peto J. The contribution of inherited predisposition to cancer incidence. Cancer Surv 1990; 9: 395-416.
2. Li FP, Fraumeni Jr JF. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969; 71: 747-752.
3. Pearson ADJ, Craft AW, Ratcliffe JM, Birch JM, Morris-Jones PH, Roberts DF. Two families with the Li-Fraumeni cancer family syndrome. J Med Genet 1982; 19: 362-365.
4. Lynch HT, Mulcahy GM, Harris RE, Guirgis HA, Lynch JF. Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma. Cancer 1978; 41: 2055-2064.
5. Li FP, Fraumeni JF Jr. Prospective study of a family cancer syndrome. JAMA 1982; 247: 2692-2694.
6. Birch JM, Hartley A1, Blair V et al. Cancer in the families of children with soft tissue sarcoma. Cancer 1990; 66: 2239-2248.
7. Strong LC, Stine M, Norsted TL. Cancer in survivors of childhood soft tissue sarcoma and their relatives. J Natl Cancer Inst 1987; 79: 1213-1220.
8. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet 1992; 51: 344-356.
9. Li FP, Fraumeni Jr JF, Mulvihill JJ et al. A cancer family syndrome in twenty-four kindreds. Cancer Res 1988; 48: 5358-5362.
10. Hartley AL, Birch JM, Kelsey AM, Marsden HB, Harris M, Teare MD. Are germ cell tumors part of the Li-Fraumeni Cancer Family Syndrome? Cancer Genet Cytogenet 1989; 42: 221-226.
11. Hartley AL, Birch JM, Marsden HB, Harris M. Malignant melanoma in families of children with osteosarcoma, chondrosarcoma and adrenal cortical carcinoma. J Med Genet 1987; 24: 664-668.
12. Hartley AL, Birch JM, Tricker K et al. Wilms’ tumour in the Li-Fraumeni cancer family syndrome. Cancer Genet Cytogenet 1993; 67: 133-135.
13. Malkin D, Li FP, Strong LC et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 1990; 250: 1233-1238.
14. Srivastava S, Zou Z, Pirollo K, Blattner W, Chang EH. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 1990; 348: 747-749.
15. Birch JM, Hartley AL, Tricker KJ et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 1994; 54: 1298-1304.
16. Dittmer D, Pali S, Zambetti G et al. Gain of function mutations in p53. Nature Genet 1993; 4: 42-15.
17. Brugiéres L, Gardes M, Moutou C et al. Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. Cancer Res 1993; 53: 452-455.
18. Santibiflez-Koref MF, Birch JM, Hartley AL et al. p53 germline mutations in Li-Fraumeni syndrome. Lancet 1991; 338: 1490-1491.
19. Barnes DM, Hanby AM, Gillett CE et al. Abnormal expression of wild type p53 protein in normal cells of a cancer family patient. Lancet 1992; 340: 259-263.
20. Momand J, Zambetti GP, Olson DC, George D, Levine AJ. The mdm-2 oncogene product forms a complex with the p53 protein and inhibits p53-mediated transactivation. Cell 1992; 69: 1237-1245.
21. Lynch HT, Lanspa S, Smyrk T, Boman B, Watson P, Lynch J. Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). Genetics, pathology, natural history, and cancer control, Part 1. Cancer Genet Cytogenet 1991; 53: 143-160.
22. Mecklin J-P, Järvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991; 68: 1109-1112.
23. Peltomäki P, Aaltonen LA, Sistonen P et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993; 260: 810-812.
24. Aaltonen LA, Peltomäki P, Leach FS et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260: 812-816.
25. Tulinius H, Egilsson V, Olafsdöttir GH, Sigvaldason H. Risk of prostate, ovarian and endometrial cancer among relatives of women with breast cancer. BMJ 1992; 305: 855-857.
26. Anderson KE, Easton DF, Matthews FE, Peto J. Cancer mortality in the first degree relatives of young breast cancer patients. Br J Cancer 1992; 66: 599-602.
27. Teare MD, Wallace SA, Harris M, Howell A, Birch JM. Cancer experience in the relatives of an unselected series of breast cancer patients. Br J Cancer 1994;70: July.
28. Easton DF, Bishop DT, Ford D, Crockford GP, Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancer results from 214 families. Am J Hum Genet 1993; 52: 678-701.
29. Arason A, Barkardöttir RB, Egilsson V. Linkage analysis of chromosome 17q markers and breast-ovarian cancer in Icelandic families, and possible relationship to prostatic cancer. Am J Hum Genet 1993; 52: 711-717.
30. Cowell JK. The genetics of retinoblastoma. Br J Cancer 1991; 63: 333-336.
31. Riccardi VM. von Recklinghausen neurofibromatosis. N Engl J Med 1981; 305; 1617-1627.
32. Riccardi VM, Lewis RA. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet 1988; 42: 284-289.
33. Hope DG, Mulvihill JJ. Malignancy in neurofibromatosis. In: Riccardi VM, Mulvihill JJ, eds. Neurofibromatosis (von Recklinghausen Disease) New York: Raven Press, 1981: 33-56.
34. Barker D, Wright E, Nguyen K et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987; 236: 1100-1102.
35. Seizinger BR, Houleau GA, Ozelius U et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987; 49: 589-594.
36. Goldgar DE, Green P, Parry DM, Mulvihill JJ. Multipoint linkage analysis in neurofibromatosis type 1: an international collaboration. Am J Hum Genet 1989; 44: 6-12.
37. Wallace MR, Marchuk DA, Andersen LB et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249: 181-186.
38. Viskochil D, Buchberg AM, Xu G et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187-192.
39. Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis type 1 gene product Proc Natl Acad Sei USA 1991; 88: 9658-9662.
40. Maher ER, Iselius L, Yates JRW et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991; 28: 443-447.
41. Neumann HPH, Wiestier OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991; 337: 1052-1054.
42. Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988; 332; 268-269.
43. Latif F, Tory K, Gnarra J et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993; 260: 1317-1320.
44. Gorlin RJ, Goltz RW. Multiple naevoid basal cell epithelioma, jaw cysts and bifid ribs: a syndrome. N Engl J Med 1960; 262: 908-912.
45. Evans DGR, Birch JM, Orton Cl. Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br J Neurosurg 1991; 5: 643-646.
46. Evans DGR, Famdon PA, Burnell LD, Gattamaneni R, Birch J. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 1991; 64: 959-961.
47. Famdon PA, Del Mastro RG, Evans DGR, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet 1992; 339: 581-582.
48. Gailani MR, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992; 69: 111-117.
49. Hartley AL, Birch JM, Kelsey AM, Harris M, Morris Jones PH. Sarcomas in three generations of a family with neurofibromatosis. Cancer Genet Cytogenet 1990; 45: 245-248.
50. Shearer P, Parham D, Kovnar E et al. Neurofibromatosis Type 1 and malignancy: review of 32 pediatric cases treated at a single institution. Med Pediatr Oncol 1994; 22: 78-83.
51. Lynch HT, Fitzgibbons Jr RJ, Lanspa SJ, Marcus JN, Lynch JF, Kopelovich L. Familial polyposis coli and neurofibromatosis in the same patient a family study. Cancer Genet Cytogenet 1987; 28: 245-251.