Hereditary Colon Cancer: Polyposis and Nonpolyposis Variants
CA A Cancer Journal for CliniciansPublished 1 March 1985Open access
H. T. Lynch, Paul Rozen, Guy S. Schuelke
Citations38
SJR quartileQ1
SJR score145.00
SNIP201.17
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Abstract
CA: A Cancer Journal for Clinicians publishes information about the prevention, early detection, and treatment of cancer, as well as nutrition, palliative care, survivorship, and additional topics of interest related to cancer care.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
PubMedMultiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.
711 Citations1953Eldon J. Gardner, Ralph C. Richards
Three widely different manifestations of abnormal growth were observed in the same six members of a family group consisting of 51 individuals and forty-four members were found to be free from all three abnormalities.
Archives of internal medicineHEREDITY WITH REFERENCE TO CARCINOMA
504 Citations1913A. S. Warthin
The statistical study of carcinoma is regarded by many writers as having been carried as far as it can be profitable; but little that is new has been gained through this method during the last decade.
Diseases of the Colon & RectumMalignant tumors of the central nervous system associated with familial polyposis of the colon
472 Citations1959J Turcot, Jean-Paul Després +1 more
Turcot syndrome is the association between familial adenomatous polyposis and brain tumors like medulloblastoma, malignant glioma, and hence carries the first author's name.
Archives of Internal MedicineHereditary factors in cancer. Study of two large midwestern kindreds
382 Citations1966Henry T. Lynch
Familial Polyposis Coli
267 Citations1978H J R Bussey, B C Morson
It is shown that Handford (1890) appears to have been the first to notice the high incidence of associated carcinoma of the colon and rectum and this observation has important consequences in the study of the etiology of intestinal cancer.
Journal of Clinical ImmunologyMonoclonal antibody detection of a circulating tumor-associated antigen. I. Presence of antigen in sera of patients with colorectal, gastric, and pancreatic carcinoma
238 Citations1982Meenhard Herlyn, Henry F. Sears +2 more
Three hybridoma-secreted monoclonal anti-colorectal carcinoma antibodies 19-9, 52a, and C4 14 bind specifically to cells of colorectAL, gastric, and pancreatic carcinoma in tissue culture show the potential usefulness of monoconal antibodies in the diagnosis of human malignancy.
Archives of Internal MedicineThe Cancer Family Syndrome Rare Cutaneous Phenotypic Linkage of Torre's Syndrome
228 Citations1981Henry T. Lynch
The coexistence of rare sebaceous neoplasia and visceral cancer in CFS supports the notion that some cases of Torre's syndrome may in fact represent the more full phenotypic expression of the gene responsible for the CFS.
Clinical Immunology and ImmunopathologyGenetically determined immunodeficiency diseases (GDID) and malignancy: Report from the Immunodeficiency-Cancer Registry
223 Citations1978Beatrice D. Spector, Guy S. Perry +1 more
Possible biases in the case registry are discussed, including the possibility that certain immunodeficiencies are underrepresented, that certain tumors are overreported, and that diagnostic criteria of lymphomas have changed in the years that ICR cases were diagnosed.
American Journal of OphthalmologyHypertrophy of the Retinal Pigment Epithelium Associated with Gardner's Syndrome
206 Citations1980Norman P. Blair, Clement L. Trempe
Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome, and the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease.
PubMedTritiated thymidine (phi p, phi h) labeling distribution as a marker for hereditary predisposition to colon cancer.
190 Citations1983Martin Lipkin, William E. Blattner +4 more
The (φ p ,φ h ) distribution appears to be a more precise measure of risk than previously used in discriminating populations with genetic susceptibility to colon cancer from those at lower risk and may be useful as a marker to identify individuals with the at-risk phenotype.
CancerNatural history of hereditary cancer of the breast and colon
143 Citations1982William A. Albano, James Recabaren +6 more
British journal of surgeryThe association of familial polyposis of the colon with multiple sebaceous cysts
121 Citations1954Michael C Oldfield
The type of familial polyposis which involves mainly the small intestine and causes intussusception has often been found in association with peculiar melanin-pigmented conditions.
Diseases of the Colon & RectumHereditary proximal colonic cancer
105 Citations1977Patrick M. Lynch, Henry T. Lynch +1 more
The results are in accord with reported findings in 11 similar kindreds from the literature, and strongly suggest the existence of a heritable variety of colonic cancer in which the proximal colon is at particularly high risk.
JAMAFamily History in an Oncology Clinic
95 Citations1979Henry T. Lynch
Detailed family histories of cancer were solicited from 200 consecutively ascertained cancer patients undergoing treatment in an oncology clinic and found that, in most cases, the family history of cancer had been either omitted altogether, reported as negative despite substantial evidence to the contrary, or, if noted as positive, not pursued or acted on.
New England Journal of MedicineThe Glioma-Polyposis Syndrome
95 Citations1969Fred A. Baughman, Carl F. List +4 more
FAMILIAL polyposis of the colon may be associated with osteomas, fibromas and sebaceous cysts in the Gardner syndrome, and with endocrine adenomatosis and with brain tumors.
Archives of DermatologyMultiple Hamartoma Syndrome (Cowden's Disease)
88 Citations1978Donald D. Nuss
The four male patients with multiple hamartoma syndrome (Cowden's disease) in this report, have most of the previously reported findings associated with this syndrome and several important unreported findings that include multiple cutaneous trichilemmomas.
Proceedings of the National Academy of SciencesDefective organization of actin in cultured skin fibroblasts from patients with inherited adenocarcinoma
78 Citations1977Levy Kopelovich, Susan J. Conlon +1 more
This class of colonic carcinoma is accompanied by a systemic aberration in the organization of fibroblast cytoplasm, and this aberration can be detected by immunofluorescent localization of actin within cultured skin fibroblasts, prior to manifestation of any colonic symptoms.
CancerTurcot's syndrome evidence for autosomal dominant inheritance
64 Citations1983James H. Lewis, Allen L. Ginsberg +1 more
Evidence is presented suggesting Turcot's syndrome is best considered an additional phenotype of familial polyposis and is most likely inherited in an autosomal dominant manner.
British journal of surgeryGardner's stigmas in patients with familial adenomatosis coli
63 Citations1982Heikki Järvinen, P Peltokallio +2 more
The usually innocent extracolonic signs of Gardner's syndrome serve as valuable markers for early detection of asymptomatic family members at risk of familial adenomatosis coli.
CancerMultiple neoplasms in an adolescent child associated with IgA deficiency
62 Citations1974Ala B. Hamoudi, Inta J. Ertel +3 more
A report is presented of an unusual occurrence of multiple primary malignant neoplasms in a young girl who developed malignant thymoma, squamous cell carcinoma of the scalp, adenocarcinomas of the colon, which recurred, and choroid tumor of the eye and died at the age of 20.
Diseases of the Colon & RectumThe cancer-family syndrome
61 Citations1979Henry T. Lynch, Patrick M. Lynch
The ascertainment and evaluation of the kindred demonstrates the clinical utility of regarding such criteria (early cancer onset, multiple primary cancers, proximal colonic involvement) as a basis for selecting cases for more thorough family-history evaluation.
Annals of SurgeryThe Surgeon, Genetics, and Cancer Control
52 Citations1977HENRY T. LYNCH, Randall E. Harris +5 more
Findings of excess occurrence of carcinoma of the colon and endometrium, multiple primary cancer, early age of onset, and autosomal dominant mode of genetic transmission mandate a program of increased surveillance and cancer education.
Archives of SurgeryManagement of Hereditary Site-Specific Colon Cancer
51 Citations1977Henry T. Lynch
A family with site-specific colon cancer and discrete adenomatous colon polyps in certain members has provided a prototype for the study and clinical management of hereditary cancer.
CancerIncreasedin vitro tetraploidy: Tissue specific within the heritable colorectal cancer syndromes with polyposis coli
50 Citations1978B. Shannon Danes
Observations suggested that in these 2 syndromes there was a population of tetraploid cells, at least in culture, constantly present which may be relevant to the multi‐step process of carcinogenesis.
Journal of Clinical InvestigationNondegradation of fecal cholesterol in subjects at high risk for cancer of the large intestine.
50 Citations1981Mack Lipkin, B S Reddy +2 more
Measurements have shown that affected individuals and asymptomatic progeny in a second population group with inherited predisposition to colon cancer are low converters of fecal cholesterol, extending this marker of colon cancer susceptibility to a secondpopulation group with hereditary predis position to colonic neoplasia.
CancerFamilial gastric cancer and immunologic abnormalities
48 Citations1973Edward T. Creagan, Joseph F. Fraumeni
Observations suggest that mechanisms of autoimmunity and immunodeficiency, consistent with a genetic defect of T‐lymphocytes, are involved in this family's susceptibility to stomach cancer.
CancerFamilial cancer in the general population
41 Citations1977Samuel Albert, M A Child
In the course of collecting samples of human milk for the National Cancer Institute, family histories have been assembled since 1971, and there were significantly more observed than expected cancers in lineages with cancer of breast, ovary, skin, corpus uteri, stomach, rectum, lung and bronchus, or colon.
CancerIncreased tetraploidy: Cell-specific for the gardner gene in the cultured cell
38 Citations1976B. Shannon Danes
PubMedPatterns of mucus secretion in the colonic epithelium in familial polyposis.
37 Citations1981Filipe Mi, S. Mughal +1 more
Patterns of mucus secretion were investigated, by histochemical methods, in 24 colectomy specimens resected for familial polyposis coli, suggesting a relationship between altered glycoprotein synthesis and malignancy.
PubMedSurveillance/management of an obligate gene carrier: the cancer family syndrome.
35 Citations1983Henry T. Lynch, William A. Albano +4 more
International review of cytologyGenetic Predisposition to Cancer in Man: In Vitro Studies
30 Citations1982Levy Kopelovich
The chapter discusses the evidence about mechanisms associated with cancer predisposition and cancer control in man based on studies with cultured skin fibroblasts derived from humans who were genetically predisposed to cancer.
CancerHl-a in cancer family “n”
30 Citations1975Henry T. Lynch, Robert Thomas +8 more
Actual HL‐A typing has been performed on 115 members of cancer family N, a large kindred showing the findings consistent with the cancer family syndrome, with the single exception showing cancer and another haplotype in branch D is a child of a family member with haplotype HLA2‐HL‐A12.
CancerFamilial cancer in an oncology clinic
29 Citations1981William A. Albano, Henry T. Lynch +6 more
Its universal extension in clinical practice is advocated because of the potential yield from meticulous surveillance for cancer of highly targeted organs in such high‐risk kindreds, as well as the economy and general ease of obtaining detailed family history by registered nurses.
CancerFamilial occurrence of colon and uterine carcinoma and of lymphoproliferative malignancies.II. Chromosomal and immunologic abnormalities
27 Citations1977Ivan P. Law, Ariel C. Hollinshead +5 more
Cytogenic and immunologic studies were performed on 20 members of a family who had an increased susceptibility to carcinomas of the colon, uterus and of lymphoproliferative malignancy suggesting that defective cell‐mediated immunity played an important role in the expression of this disease.
Journal of Medical GeneticsFamilial polyposis coli: heterogeneous polyp expression in 2 kindreds.
26 Citations1979Henry T. Lynch, Patrick M. Lynch +2 more
The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.
JNCI Journal of the National Cancer InstituteMorphologic Transformation and Chromosomal Changes Induced by Chemical Carcinogens in Skin Fibroblasts From Patients With Familial Adenomatosis Coli<xref ref-type="fn" rid="fn2">2</xref>
24 Citations1982Michiko Miyaki, Noriko Akamatsu +3 more
Skin fibroblasts from patients with familial adenomatosis coli (AC) and normal individuals were treated once with the carcinogen 4-nitroquinoline 1-oxide or N-methyl-N'-nitro-N-nitrosoguanidine and then passaged sequentially to suggest AC patients have increased susceptibility to morphologic transformation and chromosomal changes induced by chemical carcinogens.
Clinical Immunology and ImmunopathologyImpaired B-cell differentiation and T-cell regulatory function in four patients with Bloom's syndrome
24 Citations1982Noboru Taniguchi, Mikio Mukai +5 more
It is suggested that B-cell differentiation ability and T-cell regulatory function for the generation of Ig-PC were incompletely developed in patients with Bloom's syndrome, as if functional maturation of the patients' lymphocytes had been arrested at the early developmental stages of immune ontogeny.
CancerGenetic mechanisms in cancer predisposition.Report of a cancer family
22 Citations1979Lorraine F. Meisner, Enid F. Gilbert +2 more
To explain the occurrence of lymphoma in one of the children in this family, a third set of genes is included in this three locus model—genes affecting immunocompetence, in which the normal allele is dominant.
PubMedIncreased sensitivity of fibroblasts of skin from patients with adenomatosis coli and Peutz-Jegher's syndrome to transformation by murine sarcoma virus.
22 Citations1980Michiko Miyaki, Noriko Akamatsu +6 more
Skin fibroblasts from family members of cases of adenomatosis coli (AC) and Peutz-Jegher's syndrome (PJ) were examined for susceptibility to morphological transformation by Moloney murine sarcoma virus (MSV) of rate 78AI cells.
JNCI Journal of the National Cancer InstituteThe Gardner Syndrome: A Family Study in Cell Culture2
21 Citations1977B. Shannon Danes, Anne J. Krush
The occurrence of tetraploidy was studied in skin cultures containing both epitheloid and fibroblastic cells derived from 137 members of 6 families with the Gardner syndrome of 6 members at risk for inheriting the Gardner gene.
American Journal of HematologyFamilial T‐cell lymphoblastic lymphoma: Association with von recklinghausen neurofibromatosis and gardner syndrome
21 Citations1982Joseph Kaplan, Barbara Cushing +5 more
A family is described in which three of seven siblings developed a T‐cell lymphoblastic lymphoma, and all three sibs had numerous cafe'‐au'lait spots indicative of Von Recklinghausen neurofibromatosis.
CancerA linkage study of HLA and inherited adenocarcinoma of the colon
19 Citations1981Michael Sivak, Donna Schleutermann Sivak +2 more
A kindred with the familial cancer syndrome is reported in which every confirmed affected member of the pedigree had at least one primary carcinoma of the colon, consistent with an autosomal dominant mode of inheritance.
Diseases of the Colon & RectumIntestinal polyposis and brain tumor in a family
19 Citations1979Atef K. Sayed, Syed Jafri +1 more
In the family the authors report, two brothers developed ACR, one of which had adenocarcinoma of the cecum at age 46, with no evidence of intestinal polyposis, and this family illustrates the multiple facets of the ACR gene.
JNCI Journal of the National Cancer InstituteHeterogeneous Response to X-Ray and Ultraviolet Light Irradiations of Cultured Skin Fibroblasts in Two Families With Gardner's Syndrome<xref ref-type="fn" rid="fn2">2</xref>
19 Citations1982Timothy J. Kinsella, John B. Little +6 more
Increased sensitivity of cultured skin fibroblasts to X-ray and UV light irradiations was not a consistent in vitro finding in patients with Gardner's syndrome, but in families with Gardner’s syndrome who demonstrate in vitro radiosensitivity, additional studies are needed to assess the usefulness of these techniques in detecting affected individuals prior to the development of colon carcinoma and other manifestations.
PubMedDiverse familial malignant tumors and Epstein-Barr virus.
18 Citations1981Purtilo Dt, Liao Sa +11 more
Continued monitoring of a family for new malignant tumors has revealed diverse immunological and neoplastic disorders during a 15-year period, andPredisposition to oncogenesis in this family was probably inherited.
Human GeneticsA high incidence of mitotic chiasmata in endoreduplicated Bloom's syndrome cells
18 Citations1981Evelyn M. Kuhn
Evidence is provided against the idea that the high rate of mitotic crossing-over in diploid BS lymphocytes is primarily due to an increase in chromosome pairing, as BS chromosomes apparently have a greater tendency to undergo mitotic exchange than normal or FA cells.
Experimental Cell BiologyTumor Promoter Induces Loss of Anchorage Dependence in Human Skin Fibroblasts from Individuals Genetically Predisposed to Cancer
18 Citations2008Levy Kopelovich, Nancy E. Bias
The isolated anchorage-transformed clones showed an altered clonal morphology and a considerable increase in cloning efficiency in liquid cultures and agar, suggesting that ACR cells may be used to screen for potential tumor promoters in the authors' environment.
Heredity and Gastrointestinal Tract Cancer
18 Citations1978Henry T. Lynch, Patrick M. Lynch
Perhaps the most difficult obstacle in elucidating genetic patterns of cancer susceptibility is the omnipresence of environmental and dietary factors, the differential clustering of which may doggedly mimic a genetic model.
CancerSelective screening for colorectal tumors in the Tel-Aviv area: Relevance of epidemiology and family history
17 Citations1981Paul Rozen, Zvi Fireman +4 more
An increased yield in the group with a family history of colon cancer, greater than usually found in an unselected population, emphasizes the economic value of selective screening utilizing relevant epidemiologic data and the family history.
CancerSuppressor cells in healthy relatives of patients with hereditary colon cancer
15 Citations1980Norman T. Berlinger, Robert A. Good
Patients with sporadic or hereditary colon cancer demonstrate in vitro defects of cellular immunity characterized by decreased lymphocyte responsiveness in mixed leukocyte culture, which can frequently be attributed to the influence of suppressor macrophages.
CancerThe use of a tumor promoter for the detection of individuals with the gardner syndrome
14 Citations1983Levy Kopelovich, Eldon J. Gardner
The results extend the previous observations that the measurement of cloning efficiency in the presence of a TPA probe provides a reliable assay to distinguish SF of colorectal cancer‐prone persons from those of normal subjects within a single pedigree of the Gardner syndrome.
Annals of Internal MedicineAcute Myelocytic Leukemia in Two Brothers with Polyposis Coli and Carcinoma of the Colon
12 Citations1981Mortimer S. Greenberg, KENNETH C. ANDERSON +2 more
Two brothers developed multiple adenomatous polyps of the colon and colonic adenocarcinoma, the classic features of familial polyposis coli, suggesting autosomal recessive inheritance of these multiple neoplasms.
The LancetMANAGEMENT OF MALIGNANCY IN "CANCER FAMILIES"
11 Citations1978Christopher Williams
All members of cancer families should be screened for cancer of the uterus and colon, and they should be educated in methods of cancer detection and the importance of early diagnosis.
PubMedGenetic and communicable effects on carcinoembryonic antigen expressivity in the cancer family syndrome.
11 Citations1978Hoda A. Guirgis, Henry T. Lynch +2 more
The results suggest the existence of a genetic-connubial effect on plasma CEA levels, presumably due to a common environmental agent acting in concert with the degree of genetic predisposition to cancer.
Human GeneticsEffect of incubation temperature on the frequency of sister chromatid exchanges in Bloom's syndrome lymphocytes
10 Citations1981J. West, M.J. Lyttleton +1 more
Findings suggest that some imbalance in the factors responsible for DNA replication may exist in BS and possibly account for the high level of SCE and unpublished observations suggest that slow growth reduces SCE in BS cells.
CarcinogenesisDifferential response of familial polyposis fibroblasts to two bifunctional alkylating agents
8 Citations1982Eileen Friedman, Kathleen Carnright +1 more
Skin fibroblasts from three subjects with familial polyposis coli, a hereditary disorder predisposing to colon cancer, exhibited an unexpected insensitivity to mitomycin C (MMC), which may contribute to the increased frequency of neoplastic transformation known to occur in these cells in vivo.
Diseases of the Colon & RectumReport of a family with cancer family syndrome
7 Citations1981C. O. Metzmaker, Patricia M. Sheehan
An analysis is made of the prevalence of colonic and endometrial cancer in this family and the risk to the progeny of affected and unaffected individuals is discussed, and recommendations for screening for early signs of cancer are offered.
Human GeneticsThe effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts
7 Citations1982F. Giannelli, P. K. Botcherby +1 more
Ultraviolet radiation induced more unscheduled DNA synthesis in ten Bloom syndrome (BS) fibroblast strains than in control cells, but this difference could be suppressed by aphidicolin treatment in at least nine BS strains.
Cancer Genetics and CytogeneticsLow serum IgA in a familial ovarian cancer aggregate
6 Citations1982Guy S. Schuelke, Henry T. Lynch +3 more
Low serum IgA levels were found to segregate in a sufficient number of individuals from a familial ovarian carcinoma aggregate to suggest that this may be a genetically determined immune defect etiologically integral to cancer susceptibility in this family.
GerontologyT Cells, Precocious Aging, and Familial Neoplasia
5 Citations2009H. Hugh Fudenberg, Stanley H. Schuman +2 more
The present results suggest that subjects with low active T cells should be monitored frequently to detect possible neoplasia in it early stages and suggest that impaired cellular immunity in humans is associated with, if not the cause of, accelerated aging.
Diseases of the Colon & RectumA strategy for prevention of cancer of the large bowel
3 Citations1982Norman D. Nigro
Evidence that the addition of small amounts of representatives of three classes of cancer inhibitors reduces intestinal cancer formation in rats by 50 per cent suggests that a diet with modest changes in the fat-fiber content plus the added of certain inhibitors may be effective in reducing the incidence of cancer of the large bowel.