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  • 1
    Electronic Resource
    Electronic Resource
    Phenotypic Variation and Systemic Cancer in the FAMMM Syndrome (1988)
    Oxford, UK : Blackwell Publishing Ltd
    Periodontology 2000 1 (1988), S. 0 
    Details
    ISSN: 1600-0757
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Familial atypical multiple mole melanoma (FAMMM) syndrome, a cancer-associated genodermatosis, is a dominantly inherited heterogeneous disorder with variable expressivity of both its cutaneous and cancer phenotypes. By using a verified historical review technique of cancer documentation (idout patient health records, pathology reports/slides, autopsy reports/slides, and death certificates) of all anatomic sites in all members of a modified nuclear pedigree (first-degree relatives plus maternal and paternal grandparents, aunts, and uncles) over several generations, we showed that the FAMMM syndrome is similar to the majority of autosomal dominant inherited cancer-associated genodermatoses and has excessive risk for cancer of multiple anatomic sites. With respect to the FAMMM syndrome, these cancers involved the breast, respiratory tract, gastrointestinal system, the eye (intraocular melanoma), and the lymphatic system. These FAMMM pedigrees showed some of the following distinctive characteristics of hereditary cancer: 1) integral patterns of cancer within and between pedigrees; 2) early age of onset of cancer; 3) prolonged survival of some pedigree members with cancer; and 4) an excess of multiple primary melanomas and cancers of variable anatomic sites. The presence of these features indicates that these cancers of variable anatomic sites may be etiologically associated with the FAMMM syndrome. Heterogeneity should be investigated in FAMMM pedigrees with attention to consistent differences in size and distribution of atypical lesions, age at cancer onset, and pattern of tumor occurrences. The occurrence of FAMMM pedigrees in the general population or among pedigrees of probands with atypical nevi is not known. The occurrence of systemic cancers in these FAMMM pedigrees requires the development of cancer surveillance programs that are specifically modified to the particular cancer pattern of each pedigree.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0749.1988.tb00806.x
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  • 2
    Electronic Resource
    Electronic Resource
    Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome (1985)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 113 (1985), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Distinguishing cutaneous signs which are associated with hereditary cancer-prone syndromes are known as cancer-associated genodermatoses. Muir-Torre syndrome (M-T) is characterized by the occurrence of sebaceous hyperplasia, adenoma and carcinoma, basal cell carcinoma with sebaceous differentiation, and/or keratoacanthoma in association with visceral cancer (often multiple), and improved survival. Family studies of M-T have been either wholly lacking or too incomplete to elucidate hereditary aetiology. We describe the cutaneous phenotype of M-T in an extended kindred with a possible variant of the Cancer Family Syndrome. We emphasize the need for more thorough documentation of family histories and cancer association in this cancer-associated genodermatosis in order to clarify hereditary syndrome identification, and to improve cancer control through employment of cutaneous signs as a beacon for highly targeted forms of visceral cancer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1985.tb02081.x
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  • 3
    Electronic Resource
    Electronic Resource
    Family History of Cancer (1995)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 768 (1995), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1995.tb12105.x
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  • 4
    Electronic Resource
    Electronic Resource
    Cancer control problems in the lynch syndromes (1993)
    Springer
    Diseases of the colon & rectum 36 (1993), S. 254-260 
    Details
    ISSN: 1530-0358
    Keywords: Lynch syndromes ; Natural history ; Cancer genetic diagnosis ; Cancer Control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Lynch syndromes account for about 4 to 6 percent of the total colorectal cancer (CRC) burden. Despite more than two decades of documentation in the literature, many physicians fail to recognize the clinical features of these syndromes. The lack of premonitory physical stigmata, coupled with the absence of a biomarker of cancer susceptibility, mandates full reliance on a well-orchestrated family history for diagnosis. These deficiencies impede cancer control. Even if the diagnosis is made, proper surveillance and management measures that are responsive to the Lynch syndromes' natural history may fail to be implemented. We describe CRC occurrences in patients from four extended Lynch syndrome kindreds. Failures in cancer control were attributable to poor patient compliance and/or to limited physician knowledge about the natural history and surveillance recommendations for the Lynch syndromes. Physicians need to more effectively educate their high-risk patients about the significance of genetic risk, the natural history of CRC, and the appropriate surveillance strategies in the Lynch syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053506
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  • 5
    Electronic Resource
    Electronic Resource
    Invited editorial (2000)
    Springer
    Diseases of the colon & rectum 43 (2000), S. 360-362 
    Details
    ISSN: 1530-0358
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02258302
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  • 6
    Electronic Resource
    Electronic Resource
    Variable gastrointestinal and urologic cancers in a lynch syndrome II kindred (1991)
    Springer
    Diseases of the colon & rectum 34 (1991), S. 891-895 
    Details
    ISSN: 1530-0358
    Keywords: Lynch syndrome II ; Cancer of the bile duct ; Urologic system ; Colon ; Endometrium ; Ovary
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract There are no premonitory physical signs or biomarkers which can identify the genotypic status in Lynch syndrome II. Diagnosis is therefore dependent on the pedigree, with attention to cancer of all anatomic sites, inclusive of those cardinal features of its natural history. The tumor spectrum in Lynch syndrome II has continued to expand commensurately with increasing interest in this disorder. We report a family showing the constant cancer features of this syndrome but, in addition, occurrences of carcinoma of the bile duct, urologic system, and extremely early-onset carcinoma of the pancreas, in patients in the direct genetic lineage who were considered to be candidates for having inherited the deleterious genotype. Diagnosis of Lynch syndrome II is crucial in targeting its surveillance and management.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02049703
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  • 7
    Electronic Resource
    Electronic Resource
    Hereditary nonpolyposis colorectal cancer (lynch syndrome II) in Uruguay (2000)
    Springer
    Diseases of the colon & rectum 43 (2000), S. 353-360 
    Details
    ISSN: 1530-0358
    Keywords: Cancer genetics ; Colorectal cancer ; Genetic counseling ; Hereditary cancer ; Hereditary nonpolyposis colorectal cancer (HNPCC) ; Lynch syndrome II
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how thehMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for thehMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02258301
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  • 8
    Electronic Resource
    Electronic Resource
    Invited commentary (1989)
    Springer
    World journal of surgery 13 (1989), S. 129-131 
    Details
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01671174
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  • 9
    Electronic Resource
    Electronic Resource
    Age-of-onset heterogeneity in hereditary breast cancer: Minimal clues for diagnosis (1988)
    Springer
    Breast cancer research and treatment 12 (1988), S. 275-285 
    Details
    ISSN: 1573-7217
    Keywords: hereditary breast cancer ; early onset ; diagnostic clues ; family history
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Knowledge of the family history of cancer may significantly influence diagnosis and surgical management. Hereditary breast cancer (HBC) is common and accounts for approximately 9% of the total breast cancer burden. The pattern of HBC's natural history, including age of onset, increased incidence of bilaterality, integral tumor combinations in certain kindreds, and vertical transmission consonant with an autosomal dominantly inherited factor, when observed in context with the family history, enables pattern recognition so that the diagnosis might be facilitated. We describe seven families from our Hereditary Cancer Consultation Center (HCCC) and the Creighton Oncology Clinic which are noteworthy for extraordinarily early age of onset. This appears to be an additional example of heterogeneity in HBC and may represent the first account of this remarkable subset. The manner in which age of onset can be incorporated with other aspects of natural history for expediting diagnosis is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01811240
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  • 10
    Electronic Resource
    Electronic Resource
    Clinical/genetic features in hereditary breast cancer (1990)
    Springer
    Breast cancer research and treatment 15 (1990), S. 63-71 
    Details
    ISSN: 1573-7217
    Keywords: genetics ; hereditary breast cancer ; clinical features ; cancer control ; family studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Patients from hereditary breast cancer-prone (HBC) families provide one of the most powerful and potentially cost effective models for cancer prevention and control. Paradoxically, this opportunity is often missed in the clinical practice setting due, in part, to inattention to the family history and/or lack of knowledge about breast cancer genetics. We describe the family study process, wherein documentation of genealogy, medical, and cancer history through pathology verification is attained, often on extended families. The findings of such studies are illustrated by description of nine breast cancer-prone families. These families illustrate several important clinical/geneticfeatures such as age of cancer onset, bilaterality and/or multiple primary cancer occurrences, incomplete gene penetrance, and the identification of putative obligate gene carriers. Interpretation of HBC pedigrees is dependent upon the understanding of these issues, which in turn may enable the physician to more readily identify those individuals who might benefit from highly targeted breast cancer control measures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01810778
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