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Biomedical subjects

J F Lynch

Publications and source records attributed to J F Lynch.

At least 109 records · Page 6Linked to original sources
PubMed1985

Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.

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.

Adolescent↗
PubMed1985

A demonstration project on cancer screening in rural Thailand: preliminary report.

A demonstration multiphasic cancer screening program was conducted in a rural village in Thailand under the coordination of Bangkok's National Cancer Institute. The village's physician, mayor, and other members of the community assumed a variety of volunteer roles in order to provide logistical support. In short, this became a community-oriented program. 349 patients (100 males, 249 females) were evaluated. 6 verified cancers (2 recurrent) were detected. 47 patients received a diagnosis of a putative precancer disease, such as dysplasia of the uterine cervix, leukoplakia of the vulva, or of the oral mucosa. Cancer educational programs were provided for the entire community and more intensively for those patients who participated in the program. The most vexing problem was poor follow-up.

Adult↗
PubMed1985

Biomarker studies in hereditary ovarian carcinoma.

Ovarian cancer has been increasing in frequency during the past several decades, particularly in Western industrialized nations. It has the ignominious distinction of being the major cause of death from genitourinary cancer in women in the United States. A small but significant fraction of patients with ovarian cancer have family histories that are compatible with a primary genetic factor. The hereditary variant is heterogeneous but these pedigrees reveal a high predictability of cancer. Therefore, families that are prone to ovarian cancer merit the highest priority for biomarker investigations. When considering the generally poor surveillance measures available to us for detecting ovarian cancer sufficiently early to improve prognosis, the search for biomarkers of high sensitivity and specificity assumes major significance. In turn, such biomarkers may shed light on the etiology and pathogenesis of ovarian cancer in the general population and more importantly provide mechanisms for early detection and prevention of death from this tumor.

Chromosome Aberrations↗
PubMed1984

Genetic predisposition to breast cancer.

Breast cancer risk factors are closely intertwined with the patient's cultural background, which may contribute to breast cancer aggregations within families. The difficult questions are: (1) does a truly hereditary breast cancer subset exist; (2) which familial aggregations are hereditary; and (3) is the hereditary form distinctive from its sporadic counterpart? These queries will be resolved once biomarkers are identified that show high sensitivity and specificity with genotype. The authors provide a review of this subject and will focus on their recent discovery of increased in vitro hyperdiploidy in cultured skin fibroblasts from patients with or at risk for hereditary breast cancer. The authors discuss findings from their study of family histories in 225 consecutively ascertained patients with verified breast cancer from the Creighton University School of Medicine Oncology Clinic. Findings consistent with an hereditary breast cancer syndrome were identified in 5% of the patients. Given the 112,000 new cases of breast cancer in the United States in 1982, the authors estimate that with a confidence coefficient of 0.95 between 2410 and 8790 of these individuals will manifest hereditary breast cancer. Specific surveillance/management programs should be geared to high-risk members of these families in which cancer yield will be predictable.

Adolescent↗
PubMed1984

Genetics, biomarkers, and control of breast cancer: a review.

More has been written about the epidemiology of breast cancer than possibly any other form of cancer affecting mankind. However, in the face of this intense interest, only a paucity of attention has been given to the role of genetics in its etiology. This review represents an attempt by the investigators to provide a comprehensive coverage of hereditary breast cancer. Included are pertinent endogeneous and exogeneous risk factors, which in certain circumstances, may significantly influence the role of primary genetic factors. Hereditary breast cancer is heterogeneous. When discussing the subject, therefore, one must be precise relevant to the particular heterogeneous form of concern, based on differing tumor associations. It is probably not appropriate to discuss "hereditary breast cancer" without qualification of the specific hereditary breast cancer syndrome of concern; i.e., the SBLA syndrome, breast/ovarian cancer syndrome, and others. This reasoning also applies to attempts at linking biomarkers to hereditary breast cancer. Finally, in addition to ongoing discussions on the cardinal principles that associate with hereditary forms of breast cancer, its frequency, and new developments in biomarkers, we have provided surveillance/management programs that embrace those facets of the natural history of this disease.

Adult↗
PubMed1984

Familial hepatocellular carcinoma in an endemic area of Thailand.

Hepatocellular carcinoma (HCC), while rare in the United States and other western countries, represents a major cause of death in certain areas of the world, including southeast Asia. While the etiology of HCC remains enigmatic, it is of interest that hepatitis-B viral infection (HBV) has occurred in significant excess in those geographic regions endemic for HCC. Only limited attention has been given to the role of primary genetic factors in HCC, but scattered anecdotal reports have identified familial aggregations of this disease. We report a family in which histologically verified HCC was found in a mother and two of her four sons, all of whom were concordant for HBV infection. We also briefly discuss two additional familial aggregations of HCC from Costa Rica. We propose that greater attention to be given to the role of primary genetic factors in HCC and that appropriate consideration be given to interaction with other environmental factors, such as aflatoxin exposures, nitrosamines, and HBV infection. While our observations document familial clustering of HCC with concordance for HBV, we caution that support of a genetic hypothesis will require more extensive investigation.

Carcinoma, Hepatocellular↗
PubMed1984

Breast cancer, genetics, and age at first pregnancy.

Hereditary breast cancer shows a distinctive natural history characterised by an earlier age of onset, excess bilaterality, vertical transmission, heterogeneous tumour associations, and improved survival when compared to its sporadic counterpart. To date, very little attention has been given to interrelationships between breast cancer risk factors and genetics. In the general population, early age of first term pregnancy has been generally accepted as protective against breast cancer. In addition, recent findings suggest that an early age of first pregnancy may be associated with an earlier age of breast cancer diagnosis. We studied the age at first pregnancy and age at onset of breast cancer among 162 females at 50% genetic risk, 72 of whom had already developed the disease. We then compared them to 154 consecutively ascertained breast cancer patients from the Creighton Cancer Center. In the hereditary subset (1) early first term pregnancy did not alter the frequency of breast cancer; (2) early age at first term pregnancy was not associated with an earlier age at cancer diagnosis; and (3) age of breast cancer onset in nulliparous females was not significantly lower than that in females having at least one term pregnancy. We speculate, therefore, that in our hereditary population, pregnancy does not influence the natural history of breast cancer in the same way that it does in the population at large.

Adult↗
PubMed1984

Genetics of rectal cancer.

Two operational subdivisions of hereditary colorectal cancer susceptibility are those with and those without premalignant adenomatous colonic polyp expression. In both of these subdivisions, reliable biomarkers of gene carriage would be of value in patient management as we have previously emphasized. Consideration must also be given to the familial (hereditary) occurrence of inflammatory bowel diseases associating with colorectal cancer susceptibility. The occurrence of rectal cancers should therefore alert the physician to investigate the possibility of a significant family medical history in order to fully elucidate the genetic heterogeneity of susceptibility to this disease. Clinicians should also be alert to the possibility of extracolonic malignancies where probable genetic colorectal cancer susceptibility is evident. Whenever possible, all potential biomarkers should be investigated to aid in definition of genetic heterogeneity.

Colitis↗
PubMed1983

Medical genetics, Huntington's chorea, and legal questions pertaining to autopsy.

A family with Huntington's chorea was evaluated. The 65-year-old male proband had been diagnosed as a paranoid schizophrenic. Because of Huntington's chorea in the family, he was considered "affected" by many of his relatives. Following his death, autopsy was refused by the patient's son, who had been his legal guardian. Legal consultation eventually led to autopsy, which showed no evidence of Huntington's chorea. Genetic counselling was provided for his children and siblings. Pertinent legal and neuropsychiatric issues in Huntington's disease are reviewed.

Aged↗
PubMed1983

A review of hereditary malignant melanoma including biomarkers in familial atypical multiple mole melanoma syndrome.

This review provides a comprehensive coverage of hereditary malignant melanoma with emphasis upon its heterogeneity as well as newly developed biomarker investigations. The recently described familial atypical multiple mole melanoma (FAMMM) syndrome is featured. Particular attention has been given to findings of increased hyperdiploidy observed as an in vitro phenomenon in cultured skin fibroblasts from high-risk and FAMMM-affected subjects. The FAMMM genotype is complex in that it predisposes a patient not only to melanoma (cutaneous and intraocular malignant melanoma) but also to other histologic varieties of cancer, including cancer of the lung, pancreas, and breast. Attention is given to cancer surveillance and management programs for patients at increased risk for the several forms of hereditary malignant melanoma. This approach capitalizes advantageously upon employment of a knowledge of genetics and hereditary cancer syndrome identification, with particular attention to tumor associations.

Diseases in Twins↗
PubMed1983

Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM).

The familial atypical multiple mole-melanoma syndrome (FAMMM) is characterised by an autosomal dominantly inherited susceptibility to multiple atypical moles which show variable colouration ranging from black to brown, tan, red, or pink, with occasional variegation. These compound naevi may be macular or papular, with regular or irregular borders, and measure 1 cm or more in size. They may be few in number or absent or may exceed 100 in a given patient. They are located predominantly on areas not exposed to the sun. Dysplastic changes in melanocytes, fibroplasia, focal chronic inflammatory cell infiltrate, and new blood vessel formation of the papillary dermis characterise their histopathology. These findings are not uniformly present. Because of these distinctive features, coupled with their propensity for transformation to cutaneous malignant melanoma, little attention has been given to the possibility of either minimal or absent cutaneous expression of the phenotype or more diverse neoplastic involvement in this disease. These latter phenomena, which we ascribe to the pleiotropic effects of the cancer-prone FAMMM genotype, were observed in a single FAMMM kindred, the subject of this report.

Adult↗
PubMed1983

Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis.

Genetic analysis was performed on four kindreds with clinical and pathological verification of the FAMMM syndrome. There were 80 affected or at risk members in these families. A segregation ratio of 0.47 was observed, which is consistent with an autosomal dominant mode of inheritance. Three obligate gene carriers who lacked any FAMMM phenotypic manifestations were observed and the rate of penetrance for the FAMMM gene was calculated to be 0.93. Cancer at all anatomical sites (exclusive of cutaneous malignant melanoma and intraocular malignant melanoma) showed a five-fold increase (p less than 0.004) in risk for gene carriers when age corrected and compared to the population expectation. Although there was an apparent excess of carcinoma of the lung, pancreas, and breast, the number of family members studied with specific organ cancer was too small; therefore, a larger sample size will be needed to verify this apparent excess. Our findings warrant further investigation in additional FAMMM kindreds.

Adult↗