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Biomedical subjects

J F Lynch

Publications and source records attributed to J F Lynch.

At least 127 records · Page 7Linked to original sources
PubMed1982

Natural history of hereditary cancer of the breast and colon.

The natural history of 106 patients from eighteen families manifesting hereditary breast cancer syndromes, and 117 affected patients from twenty families manifesting nonpolyposis hereditary colon cancer were evaluated. Findings were compared with the American College of Surgeons (ACS) long-term audits for breast and colon cancer respectively. The cardinal features of hereditary cancer were observed within the study group, including: (1) a significant younger age of onset (49 years, breast; 46 years, colon); (2) an excess of proximal lesions in the hereditary colon series (49%); and (3) an excess of bilaterality in the hereditary breast cancer patients. The clinical stage at presentation was similar for the hereditary and ACS audit patients. Five-year survival was significantly improved (P less than .05) for both hereditary cancer populations as compared to the ACS audits (67% hereditary breast cancer and 52% nonpolyposis hereditary colon cancer). Improved survival in hereditary colon and breast cancer patients may have a bearing on the design of future clinical protocols.

Age Factors↗
PubMed1982

Phenotypic variation in hereditary adenomatosis: unusual tumor spectrum.

Familial adenomatous polyposis coli is a heterogeneous disease with respect to genetics as well as its colonic polyposis and cancer phenotype. The authors report a family with variation in phenotypic expression of polyps ranging from isolated polyps to florid carpeting of the entire colonic mucosal surface. In addition to early-onset colonic cancer, a patient with isolated polyps had a seminoma and subsequently developed gastroesophageal cancer. His son, also with isolated colonic polyps, manifested a pararectal rhabdomyosarcoma. The significance of these variations can only be assessed fully through the study of cancer of all anatomic sites in many additional families.

Adolescent↗
PubMed1982

Leser-Trelat sign in mother and daughter with breast cancer.

The Leser-Trelat sign is the sudden appearance and rapid increase in size and number of seborrhoeic keratoses in association with cancer. Twenty cases of this unusual phenomenon have so far been reported in the world literature. More than half involve adenocarcinomas and none was shown to be familial. We report a unique example of a 41-year-old black female and her 74-year-old black mother, both of whom have demonstrated classical clinical-pathological evidence of the Leser-Trelat sign and adenocarcinoma of the breast. The remainder of the family history was negative for cutaneous lesions and cancer. The aetiological and pathogenetic significance of the Leser-Trelat sign in association with carcinoma of the breast in this mother and daughter remains obscure.

Adenocarcinoma↗
PubMed1982

Surveillance and management of patients at high genetic risk for ovarian carcinoma.

The present study is concerned with surveillance/management programs for hereditary ovarian cancer syndromes. These syndromes lack distinguishing premonitory physical signs or biomarkers; therefore, in these genotypic settings, ovarian cancer risk must be assessed by analysis of the patient's pedigree. The authors describe 10 families showing a hereditary proclivity to ovarian carcinoma and/or associated cancer(s) in accord with their respective cancer-prone genotypes. Cancer education, genetic counseling, and surveillance should be instituted early. In addition to bimanual pelvic examination, ultrasound should be tested for its possible efficacy as a screening technique. The option of prophylactic bilateral oophorectomy and hysterectomy is thoroughly discussed with highly selected candidates. The authors believe that the aggressive management approach proposed for ovarian carcinoma is warranted for high-risk members of cancer-prone families, wherein the risk for ovarian cancer may approach 50%.

Adult↗
PubMed1981

Familial excess of cancer of the ovary and other anatomic sites.

In a family with a high incidence of cancer, the proband manifested early-onset colon cancer at age 39 years. His mother, her twin sister, and their daughters had ovarian carcinoma. In the proband's sibship, six of eight had cancer of differing anatomic sites. The susceptibility to ovarian carcinoma appeared to have been transmitted through the men; one was cancer free while two had cancer. Thus, eight close relatives had ovarian carcinoma. Examinations of 51 blood relatives failed to show cutaneous stigmata or congenital abnormalities of known hereditary cancer or precancer syndromes.

Adult↗
PubMed1981

Prolonged survival as a component of a hereditary breast and nonpolyposis colon cancer.

Identification of prolonged survival in hereditary breast and colon cancer (exclusive of familial multiple adenomatous polyposis coli) have been shown to be statistically significant (P less than .05) when compared to the American College of Surgeons Tumor Registry for these respective neoplasms. Our hypothesis is that the genotype in hereditary cancer determines both susceptibility and natural history, such that increased survival is a manifestation of the natural history.

Biological Evolution↗
PubMed1981

Tumour spectrum in the FAMMM syndrome.

The Familial Atypical Multiple Mole-Melanoma Syndrome (FAMMM) is characterized by an autosomal dominantly inherited susceptibility to multiple atypical naevi. Patients with this hereditary phenotype show a strong susceptibility to cutaneous malignant melanoma (CMM). Our investigation of an extended Dutch kindred showing the FAMMM phenotype revealed a proband with bilateral intraocular malignant melanoma (IOM) and multiple CMM. The family revealed an array of tumours which included carcinoma of the lung, skin, larynx, and breast in addition to CMM and IOM, which were transmitted vertically through 3 generations. There was male-to-male transmission, and the number of affected males and females was about the same, which was consistent with an autosomal dominant inheritance. Thus the FAMMM syndrome not only indicates a potential for CMM, but a susceptibility to other systemic cancers as well. These observations, though limited to a single kindred, merit a painstaking evaluation of cancer of all anatomical sites in other kindreds showing the FAMMM syndrome. Such studies could yield clues to cancer aetiology, pathogenesis, and control.

Adult↗
PubMed1980

Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma.

Clinical-pathologic-genetic studies were performed on 3 kindreds showing the familial atypical multiple mole-melanoma syndrome (FAMMM). Findings showed vertical transmission, including father-to-son, of cutaneous malignant melanoma and/or FAMMM moles with no sex predilection. A broad spectrum of clinical signs characterizing the phenotype ranged from an apparent lack of disease expression through minimal, moderate, and florid manifestations. An extreme example was a patient with 9 separate primary melanomas in 18 years. The FAMMM moles were histologically compound nevocellular nevi with varying degrees of dysplasia of the melanocytes, an increased occurrence of fibroplasia, and chronic inflammation within the papillary dermis. Of further interest was marked variation in the degree of dysplasia in moles between and within families. These observations, when coupled with recent reports by others, are consistent with an autosomal dominant gene showing markedly variable expressivity. Management of these patients is difficult, as one cannot be certain which moles require biopsy and then, following histological study, which will require wider excision. Studies of the FAMMM syndrome should deal carefully with its natural history, including the patient's lifelong susceptibility to multiply malignant melanomas, and the possibility that cancer of other anatomic sites may be integral components of this hereditary cancer syndrome.

Adolescent↗
PubMed1980

Genetic counseling, familial breast cancer, and the surgeon's responsibility.

Approximately 20 percent of 75 consecutive breast cancer patients evaluated in our oncology clinic have shown evidence of familial breast cancer. This determination was made on the basis of association with at least two or more affected first-degree relatives. On a national basis, this would project to about 21,000 patients (and their families) for the year 1979. Seven of these patients, whose families are in various stages of completion of detailed cancer genetic evaluations, have been selected to illustrate the logic utilized for genetic counseling and management. Cardinal aspects of familial breast cancer, including its early age of onset, excess of bilaterality, vertical transmission, and occasional familial association with other varieties of cancer, have been emphasized to depict pragmatic utility for its identification. A hypothetical pedigree, based on extensive clinical experience with familial breast cancer, has been constructed to aid the physician in determining which patients have familial cancer tendencies so that he can then integrate this information for employment of strategy in genetic counseling and management. The surgeon must be cognizant of the several crucial characteristics of familial breast cancer. When one or more of these features are present in his patient or family or both, appropriate genetic counseling and management should be provided. Therefore, the surgeon must extent his sphere of responsibility to his patient's high-risk relatives.

Breast Neoplasms↗
PubMed1979

Endocrine profile in a patient with familial breast cancer: a case-control study.

Urinary and blood hormonal profiles were studied throughout a monthly cycle in a patient with familial breast cancer. Two comparison cohorts (one high-risk and one low-risk) were studied concurrently. Findings disclosed that our breast cancer-affected patient showed a distinctive hormonal pattern characterized by significant elevation throughout the cycle of plasma estrone, estradiol, and prolactin. Save for a depression in plasma FSH in the early follicular phase, this hormone, as wells as LH and progesterone patterns in our patient, were similar to the comparison cohorts. Urinary estrone and estradiol patterns in our patient were elevated early in the follicular phase. Our patient also showed a depression in urinary estrone, estradiol, and estriol following ovulation, which persisted throughout the luteal phase. Blood and urinary hormone patterns in the high-risk cohort were not demonstrably different from the low-risk cohort, with the exception of plasma prolactin. The results on the latter hormone showed an unexpected significant depression throughout most of the menstrual cycle in this low-risk cohort. We conclude that estrone and estradiol elevations, as clearly evidenced in our breast-cancer-affected patient, may provide clues that ultimately might be used as an etiologic discriminant for breast cancer risk and which may also play a pathogenic role in this disease. Since this involved a single patient, our conclusions must be interpreted cautiously.

Adult↗
PubMed1979

Familial factors in bladder carcinoma.

Surprisingly, little is known about host factors in cases of bladder carcinoma. We investigated 2 families prone to transitional cell carcinoma of the bladder. A high degree of pathology verification of cancer of all anatomic sites and a meticulous recording of genealogy, associated diseases and environmental exposures, when known, have allowed a more cogent appraisal of cancer etiology. It is reasonable to assume that members of the subject families may be more susceptible to variable carcinogenic exposures, a concept that is in accord with a genetic-environmental interaction hypothesis for cancer etiology. In addition to increased surveillance of high risk patients for earlier detection of bladder cancer, cancer control measures also should take into consideration preventive programs directed toward the avoidance of known carcinogenic exposures, such as cigarette smoking in high risk relatives of cancer-affected probands. We propose that the etiology of familial bladder cancer may be complex, involving possible other associated malignant neoplasms and/or certain non-neoplastic disorders, in addition to specific carcinogenic exposures. There is a serious need for the detailed reporting of families prone to bladder cancer wherein all of these potentially important associated factors are considered, so that a fuller appraisal of etiology might be achieved.

Adult↗
PubMed1978

Management of familial breast cancer. I. Biostatistical-genetic aspects and their limitations as derived from a familial breast cancer resource.

Practical guidelines are given to promote decision-making logic by the physician in managing patients seeking consultation (consultands) because they may be at high familial risk for breast cancer and associated malignant neoplasms. The protocol is designed to aid in the assessment of patients who may become candidates for intensified cancer surveillance and/or prophylactic surgery. A resource comprised of 90 extended breast cancer-prone pedigrees provides the basis for these specific recommendations. The resource shows marked tumor heterogeneity among pedigrees, an approximate 50% incidence of breast cancer and associated malignancies among offspring of affected parents, and threefold higher risk for development of mammary carcinoma in the opposite breast of familial patients with unilateral disease than in sporadic patients. In utilizing this protocol, it is crucial that family history be highly accurate from the standpoint of genealogic relationships and pathologic tumor verification so that management recommendations may reflect sound risk factor assessment. Interpretation of familial risk factors should ideally be made by an informed medical-geneticist. All members of the medical team should then be appraised of familial risk and collectively engage in decision making with the consultand. We believe that this approach can foster more effective control of familial breast cancer.

Adolescent↗
PubMed1978

Management of familial breast cancer. II. Case reports, pedigrees, genetic counseling, and team concept.

The lack of therapeutic progress, coupled with limitations in early breast cancer diagnostic surveillance, suggest the need for innovative control programs for this disease. We have provided certian practical criteria for prophylactic subcutaneous mastectomy based on family history, presence of precancerous diseases of the breast, and other breast cancer risk factors, and the attitudes, feelings, and emotional aspects of the patient, all of which temper decisions for the type of cancer surveillance program and/or prophylactic surgery.

Adult↗