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Phenotypic Variation in Hereditary Breast Cancer: Cancer Control Implications

Phenotypic Variation in Hereditary Breast Cancer: Cancer Control Implications Abstract Objective: To study hereditary breast cancer pedigrees as models for the elucidation of the natural history of the disease, including early onset; bilaterality; and tumor associations in the heterogeneous variants to aid in its diagnosis and in targeting surveillance and treatment strategies. Setting: Oncology clinic and hereditary cancer institute. Patients and Other Participants: Physician- or self-referred probands. Interventions: None. Main Outcome Measure: Greater understanding of the diagnosis, surveillance, and treatment of hereditary breast cancer. Results: Eighteen pedigrees displayed the phenotypic variation of breast cancer's natural history, obligate gene carriers, and patterns of tumor combinations consonant with genetic heterogeneity. Conclusion: Hereditary breast cancer is an important public health problem accounting for about 9% of breast cancer cases. The recent identification of a molecular basis for the identification of a subset of hereditary breast cancer, and thereby the likelihood of the sequencing and cloning of the susceptibility gene(s), will enable targeting of surveillance and treatment measures toward patients at an inordinately high risk of developing cancer. Central to this entire process will be the identification of families with hereditary breast cancer.(Arch Surg. 1994;129:806-813) References 1. Harris JR. Medical progress: breast cancer . N Engl J Med . 1992;327:319-328.Crossref 2. Lynch HT. Genetics and Breast Cancer . New York, NY: VN Reinhold Co; 1981. 3. Lynch HT, Lynch JF. Breast cancer genetics in an oncology clinic: 328 consecutive patients . Cancer Genet Cytogenet . 1986;23:369-372.Crossref 4. Hall JM, Ming K, Lee MK, et al. Linkage of early-onset breast cancer to chromosome 17q21 . Science . 1990;250:1684-1689.Crossref 5. McKusick VA. Mendelian Inheritance in Man . Baltimore, Md: The Johns Hopkins University Press; 1990. 6. Hall JM, Friedman L, Guenther C, et al. Closing in on a breast cancer gene on chromosome 17q . Am J Hum Genet . 1992;50:1235-1242. 7. Narod SA, Feunteun J, Lynch HT, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23 . Lancet . 1991;2:82-83. 8. Easton DF, Bishop DT, Ford D, Crockford GP, the 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. 9. Feunteun J, Narod SA, Lynch HT, Watson P, Conway T, Lynch J. A breast-ovarian cancer susceptibility gene maps to chromosome 17q21 . Am J Hum Genet . 1993;52:736-742. 10. 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.Crossref 11. Bottomley RJ, Condit PT, Chanes RE. Cytogentic studies in familial malignancy . Clin Res . 1967;15:334. 12. Lynch HT, Krush AJ, Lemon HM, Kaplan AR, Condit PT, Bottomley RH. Tumor variation in families with breast cancer . JAMA . 1972;222:1631-1635.Crossref 13. Lynch HT, Radford B, Lynch JF. SBLA syndrome revisited . Oncology . 1990; 47:75-79.Crossref 14. Lynch HT, Fitzgibbons RJ Jr, Lynch JF. Heterogeneity and natural history of hereditary breast cancer . Surg Clin of North Am . 1990;70:753-774. 15. Lynch HT, Conway T, Fizgibbons R Jr, et al. Age-of-onset heterogeneity in hereditary breast cancer: minimal clues for diagnosis . Breast Cancer Res Treat . 1988;12:275-285.Crossref 16. Harris RE, Lynch HT, Guirgis HA. Familial breast cancer: risk to the contralateral breast . J Natl Cancer Inst . 1978;60:955-960. 17. Lynch HT, Harris RE, Organ CH, Lynch JF. Management of familial breast cancer, II: case reports, pedigrees, genetic counseling, and team concept . Arch Surg . 1978;113:1061-1067.Crossref 18. Lynch HT, Harris RE, Guirgis HA, Maloney K, Carmody LL, Lynch JF. Familial association of breast/ovarian carcinoma . Cancer . 1978;41:1543-1549.Crossref 19. Lynch HT, Lynch JF. Hereditary ovarian carcinoma . Hemat Oncol Clin North Am . 1992;6:783-811. 20. Li FP, Fraumeni JF Jr. Soft tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann Intern Med . 1969;71:747-752.Crossref 21. Lynch HT, Mulcahy GM, Harris RE, et al. Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma . Cancer . 1978;41:2055-2067.Crossref 22. Lynch HT, Watson P, Conway T, Fitzsimmons ML, Lynch J. Breast cancer family history as a risk factor for early onset breast cancer . Breast Cancer Res Treat . 1988;11:263-267.Crossref 23. Lynch HT, Watson P, Conway TA. Natural history and age of onset of hereditary breast cancer . Cancer . 1992;69:1404-1407.Crossref 24. Mettlin C, Croghan I, Natarajan N, et al. The association of age and familial risk in a case-control study of breast cancer . Am J Epidemiol . 1990;131:973-983. 25. Avila MH, Walker AM. Age dependence of cohort phenomena in breast cancer mortality in the United States . Am J Epidemiol . 1987;126:377-384. 26. Roseman DL, Straus AK, Shorey W. A positive family history of breast cancer: does its effect diminish with age? Arch Intern Med . 1990;150:191-194.Crossref 27. Go RCP, King MC, Bailey-Wilson J, Elston RC, Lynch HT. Genetic epidemiology of breast cancer and associated cancers in high-risk families, I: segregation analysis . J Natl Cancer Inst . 1983;71:455-461. 28. King MC, Go RCP, Lynch HT, et al. Genetic epidemiology of breast cancer and associated cancers in high-risk families, II: linkage analysis . J Natl Cancer Inst . 1983;71:463-467. 29. Heizer WD, Lewison EF. Concordant disease in identical twins . JAMA . 1964; 188:217-220.Crossref 30. Holm NV, Hauge M, Harvald B. Etiologic factors of breast cancer elucidated by a study of unselected twins . J Natl Cancer Inst . 1980;65:285-298. 31. Kozak FK, Hall JG, Baird PA. Familial breast cancer in males: a case report and review of the literature . Cancer . 1986;58:2736-2739.Crossref 32. Demeter JG, Waterman NG, Verdi GD. Familial male breast carcinoma . Cancer . 1990;65:2342-2343.Crossref 33. Rosenblatt KA, Thomas DB, McTiernan A, et al. Breast cancer in men: aspects of familial aggregation . J Natl Cancer Inst . 1991;83:849-854.Crossref 34. Lynch HT, Kaplan AR, Lynch JF. Klinefelter syndrome and cancer: a family study . JAMA . 1974;229:809-811.Crossref 35. Everson RN, Fraumeni JF, Wilson RE, et al. Familial male breast cancer . Lancet . 1976;1:9-12.Crossref 36. Crichlow RW. Carcinoma of the male breast . Surg Gynecol Obstet . 1972;134: 1011-1019. 37. Lynch HT, Watson P, Conway TA, et al. DNA screening for breast/ovarian cancer susceptibility based on linked markers . Arch Intern Med . 1993;153:1979-1987.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Surgery American Medical Association

Phenotypic Variation in Hereditary Breast Cancer: Cancer Control Implications

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Publisher
American Medical Association
Copyright
Copyright © 1994 American Medical Association. All Rights Reserved.
ISSN
0004-0010
eISSN
1538-3644
DOI
10.1001/archsurg.1994.01420320028005
Publisher site
See Article on Publisher Site

Abstract

Abstract Objective: To study hereditary breast cancer pedigrees as models for the elucidation of the natural history of the disease, including early onset; bilaterality; and tumor associations in the heterogeneous variants to aid in its diagnosis and in targeting surveillance and treatment strategies. Setting: Oncology clinic and hereditary cancer institute. Patients and Other Participants: Physician- or self-referred probands. Interventions: None. Main Outcome Measure: Greater understanding of the diagnosis, surveillance, and treatment of hereditary breast cancer. Results: Eighteen pedigrees displayed the phenotypic variation of breast cancer's natural history, obligate gene carriers, and patterns of tumor combinations consonant with genetic heterogeneity. Conclusion: Hereditary breast cancer is an important public health problem accounting for about 9% of breast cancer cases. The recent identification of a molecular basis for the identification of a subset of hereditary breast cancer, and thereby the likelihood of the sequencing and cloning of the susceptibility gene(s), will enable targeting of surveillance and treatment measures toward patients at an inordinately high risk of developing cancer. Central to this entire process will be the identification of families with hereditary breast cancer.(Arch Surg. 1994;129:806-813) References 1. Harris JR. Medical progress: breast cancer . N Engl J Med . 1992;327:319-328.Crossref 2. Lynch HT. Genetics and Breast Cancer . New York, NY: VN Reinhold Co; 1981. 3. Lynch HT, Lynch JF. Breast cancer genetics in an oncology clinic: 328 consecutive patients . Cancer Genet Cytogenet . 1986;23:369-372.Crossref 4. Hall JM, Ming K, Lee MK, et al. Linkage of early-onset breast cancer to chromosome 17q21 . Science . 1990;250:1684-1689.Crossref 5. McKusick VA. Mendelian Inheritance in Man . Baltimore, Md: The Johns Hopkins University Press; 1990. 6. Hall JM, Friedman L, Guenther C, et al. Closing in on a breast cancer gene on chromosome 17q . Am J Hum Genet . 1992;50:1235-1242. 7. Narod SA, Feunteun J, Lynch HT, et al. Familial breast-ovarian cancer locus on chromosome 17q12-q23 . Lancet . 1991;2:82-83. 8. Easton DF, Bishop DT, Ford D, Crockford GP, the 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. 9. Feunteun J, Narod SA, Lynch HT, Watson P, Conway T, Lynch J. A breast-ovarian cancer susceptibility gene maps to chromosome 17q21 . Am J Hum Genet . 1993;52:736-742. 10. 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.Crossref 11. Bottomley RJ, Condit PT, Chanes RE. Cytogentic studies in familial malignancy . Clin Res . 1967;15:334. 12. Lynch HT, Krush AJ, Lemon HM, Kaplan AR, Condit PT, Bottomley RH. Tumor variation in families with breast cancer . JAMA . 1972;222:1631-1635.Crossref 13. Lynch HT, Radford B, Lynch JF. SBLA syndrome revisited . Oncology . 1990; 47:75-79.Crossref 14. Lynch HT, Fitzgibbons RJ Jr, Lynch JF. Heterogeneity and natural history of hereditary breast cancer . Surg Clin of North Am . 1990;70:753-774. 15. Lynch HT, Conway T, Fizgibbons R Jr, et al. Age-of-onset heterogeneity in hereditary breast cancer: minimal clues for diagnosis . Breast Cancer Res Treat . 1988;12:275-285.Crossref 16. Harris RE, Lynch HT, Guirgis HA. Familial breast cancer: risk to the contralateral breast . J Natl Cancer Inst . 1978;60:955-960. 17. Lynch HT, Harris RE, Organ CH, Lynch JF. Management of familial breast cancer, II: case reports, pedigrees, genetic counseling, and team concept . Arch Surg . 1978;113:1061-1067.Crossref 18. Lynch HT, Harris RE, Guirgis HA, Maloney K, Carmody LL, Lynch JF. Familial association of breast/ovarian carcinoma . Cancer . 1978;41:1543-1549.Crossref 19. Lynch HT, Lynch JF. Hereditary ovarian carcinoma . Hemat Oncol Clin North Am . 1992;6:783-811. 20. Li FP, Fraumeni JF Jr. Soft tissue sarcomas, breast cancer, and other neoplasms: a familial syndrome? Ann Intern Med . 1969;71:747-752.Crossref 21. Lynch HT, Mulcahy GM, Harris RE, et al. Genetic and pathologic findings in a kindred with hereditary sarcoma, breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma . Cancer . 1978;41:2055-2067.Crossref 22. Lynch HT, Watson P, Conway T, Fitzsimmons ML, Lynch J. Breast cancer family history as a risk factor for early onset breast cancer . Breast Cancer Res Treat . 1988;11:263-267.Crossref 23. Lynch HT, Watson P, Conway TA. Natural history and age of onset of hereditary breast cancer . Cancer . 1992;69:1404-1407.Crossref 24. Mettlin C, Croghan I, Natarajan N, et al. The association of age and familial risk in a case-control study of breast cancer . Am J Epidemiol . 1990;131:973-983. 25. Avila MH, Walker AM. Age dependence of cohort phenomena in breast cancer mortality in the United States . Am J Epidemiol . 1987;126:377-384. 26. Roseman DL, Straus AK, Shorey W. A positive family history of breast cancer: does its effect diminish with age? Arch Intern Med . 1990;150:191-194.Crossref 27. Go RCP, King MC, Bailey-Wilson J, Elston RC, Lynch HT. Genetic epidemiology of breast cancer and associated cancers in high-risk families, I: segregation analysis . J Natl Cancer Inst . 1983;71:455-461. 28. King MC, Go RCP, Lynch HT, et al. Genetic epidemiology of breast cancer and associated cancers in high-risk families, II: linkage analysis . J Natl Cancer Inst . 1983;71:463-467. 29. Heizer WD, Lewison EF. Concordant disease in identical twins . JAMA . 1964; 188:217-220.Crossref 30. Holm NV, Hauge M, Harvald B. Etiologic factors of breast cancer elucidated by a study of unselected twins . J Natl Cancer Inst . 1980;65:285-298. 31. Kozak FK, Hall JG, Baird PA. Familial breast cancer in males: a case report and review of the literature . Cancer . 1986;58:2736-2739.Crossref 32. Demeter JG, Waterman NG, Verdi GD. Familial male breast carcinoma . Cancer . 1990;65:2342-2343.Crossref 33. Rosenblatt KA, Thomas DB, McTiernan A, et al. Breast cancer in men: aspects of familial aggregation . J Natl Cancer Inst . 1991;83:849-854.Crossref 34. Lynch HT, Kaplan AR, Lynch JF. Klinefelter syndrome and cancer: a family study . JAMA . 1974;229:809-811.Crossref 35. Everson RN, Fraumeni JF, Wilson RE, et al. Familial male breast cancer . Lancet . 1976;1:9-12.Crossref 36. Crichlow RW. Carcinoma of the male breast . Surg Gynecol Obstet . 1972;134: 1011-1019. 37. Lynch HT, Watson P, Conway TA, et al. DNA screening for breast/ovarian cancer susceptibility based on linked markers . Arch Intern Med . 1993;153:1979-1987.Crossref

Journal

Archives of SurgeryAmerican Medical Association

Published: Aug 1, 1994

References