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H Sobol

Publications and source records attributed to H Sobol.

At least 91 records · Page 5Linked to original sources
PubMed1995

Patterns of loss of heterozygosity at loci from chromosome arm 13q suggests a possible involvement of BRCA2 in sporadic breast tumors.

Loss of heterozygosity (LOH) at loci from chromosome 13 is frequently observed in breast cancer. Chromosome 13 contains at least two cancer genes, the well-characterized RB1 gene located at 13q14 and the breast cancer-susceptibility gene, BRCA2, recently localized to 13q12. To investigate the possible involvement of BRCA2 in sporadic breast tumors, we looked at LOH at eight microsatellite (CA)n markers distributed along chromosome 13 in a panel of 59 primary breast carcinomas. We show that some LOH does not include the RB1 locus and is associated with the BRCA2 gene region.

Alleles↗
PubMed1994

[Criteria of genetic predisposition to hereditary non polyposis colorectal cancers].

Clinical and histological characteristics of non polypoid colorectal cancers with an hereditary predisposition are presented. The various known genetic syndromes (hereditary non polyposis colorectal cancers, Lynch syndrome type I and type II, Torre-Muir's syndrome, hereditary flat adenoma syndrome) are discussed to find a possible correlation between this nosological classification and their molecular substratum. The main problem today, is to correctly define the population of hereditary predisposed patients to colon cancer, in order to seek and identify the major responsible gene. Any physician, specialist or not, should be encouraged to give the details of the cancer familial context of his patients, in order to aid the oncologist geneticist in his task.

Adult↗
PubMed1994

[Constitutional translocation t(1;6) and Burkitt's lymphoma].

BACKGROUND: The relationship between constitutional chromosome aberrations and a predisposition to malignancy has already been established. CASE REPORT: A 4 year-old boy was admitted suffering from abdominal mass. Biopsies of the tumor and bone marrow showed a stage IV Burkitt's lymphoma. Karyotype showed a constitutional t(1;6)(p36;q22) in initial bone marrow samples and peripheral lymphocytes. No classic Burkitt's type translocation was demonstrated in the malignant bone marrow cells. CONCLUSION: Our case is similar to four other reported cases. The break-points 1p36 and 6q22 seem to be involved in several malignant tumors, especially lymphomas.

Burkitt Lymphoma↗
PubMed1994

[Genetics and cancer of the breast].

Breast carcinoma is the commonest cancer in women. Segregation analyses support the existence of a major susceptibility gene with a dominant pattern of inheritance in 4 to 10% of cases. Three genes involved in the genetic predisposition to breast tumors have recently been identified: BRCA-1 associated with early onset familial breast cancer and breast/ovarian carcinoma syndrome, p53 associated with Li-Fraumeni syndrome, and the androgen receptor gene in male breast cancer with Reinfenstein syndrome. A better understanding of inherited contribution may have important implications for screening individuals at high-risk in families.

Ataxia Telangiectasia↗
PubMed1994

Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations.

Codon 257 of the p53 gene is an extremely rare target for somatic mutations (accounting for only two of 1600 published mutations). We report here two constitutional mutations both affecting the second nucleotide of codon 257. A thymine to adenine transversion resulting in an amino acid change from leucine to glutamine was found in one proband who developed multiple independent malignant tumors (osteosarcoma, phyllodes tumor, soft-tissue sarcoma). Her mother died of early-onset breast cancer. In the other case, a deletion resulting in a frameshift in the C-terminal coding region of p53 was found in a woman who was diagnosed with breast cancer at age 34. This woman belongs to a family with features of Li-Fraumeni syndrome. In both cases, the p53 mutations identified in the proband was found in other members of the family. Codon 257, even if rarely mutated in somatic cells, may thus be an important target for germ-line mutations.

Adult↗
PubMed1993

[Heredity and cancers].

Cancer is a disease at the DNA level, originating from mutations of genes involved in the regulation of cell proliferation and differentiation: oncogenes and tumor suppressor genes. Only a few proportion of tumors, resulting mainly from germ-line anti-oncogene inactivation, arise in the frame of inherited cancer syndromes with mendelian mode of transmission. There may also be a much larger number of cases who are less strongly predisposed, without evident familial clustering. Genes involved in DNA repair process and in metabolism of carcinogenesis may be responsible. Study of genetic predisposition to cancer have important implications for screening individuals at high-risk in families.

Causality↗
PubMed1993

Successful treatment for a metastatic supratentorial malignant rhabdoid tumor.

The case of a boy with a familial history of Rendu-Osler disease, who successively developed a cerebellar pilocytic astrocytoma (at 3 years of age) and a metastatic supratentorial malignant rhabdoid tumor (at the age of 12 years) is reported. After a complete surgical removal, the CSF was cleared by 4 courses of chemotherapy, and the child received a craniospinal irradiation. He is currently alive and well 19 months after completion of the treatment. The authors discuss the ethiopathogeny of such intracranial tumors and argue for aggressive treatment.

Astrocytoma↗
PubMed1993

Linkage analysis of 19 French breast cancer families, with five chromosome 17q markers.

Nineteen French breast and breast-ovarian cancer families were tested for linkage with five chromosome 17q markers. The five breast-ovarian cancer families as a group give positive evidence for linkage, whereas the 14 breast cancer-only families do not. Heterogeneity of linkage of breast and breast-ovarian cancers is significant in France and supports the existence of more than one susceptibility gene.

Adult↗
PubMed1993

Familial ovarian carcinoma: pedigree studies and preliminary results from linkage analysis.

Thirty-seven ovarian cancer-prone families have been identified through a French co-operative network. Three main clinical presentations were observed: site-specific ovarian cancer, breast/ovarian carcinoma syndrome and Lynch syndrome II. An additional kindred with features of Li-Fraumeni syndrome is reported. It is expected that a better understanding of the mechanisms of carcinogenesis will allow the development of new methods of screening and treatment. With this aim, recent studies have mapped the gene for early-onset familial breast cancer and breast/ovarian carcinoma syndrome to the same locus in the chromosome 17q12-q23 region. Results from linkage analysis of two breast/ovarian carcinoma families and three breast cancer families favour the hypothesis of genetic heterogeneity among breast and ovarian tumors.

Adult↗
PubMed1993

[Hereditary predisposition for cancer of the breast and the ovary].

Familial breast cancers represent about 10% of all cases of breast cancers. A predisposition locus has been located in the 17q21 chromosomal region. Nineteen French breast and breast-ovarian cancer families were tested for linkage with five highly polymorphic 17q markers. The five breast-ovarian cancer families as a group give positive evidence for linkage, whereas the 14 breast cancer families do not. Heterogeneity of linkage of familial breast cancer is significant in France and supports the existence of more than one susceptibility gene.

Adult↗
PubMed1992

[Cutaneous lesion associated with multiple endocrine neoplasms type 2A (Sipple's syndrome). An early clinical marker].

We report the association of a cutaneous lesion with multiple endocrine neoplasia type 2A (MEN 2A) in three patients from a French family. These lesions are very similar to those previously described in an Italian and an American MEN 2A family and called cutaneous lichen amyloidosis. In all three families the patients presented with a pruritic and pigmented cutaneous lesion localized unilaterally on the upper back. However, in the French family the patients also complained of paroxysmal pain in the same area, in which we could elicit a touch hypoesthesia and pain hyperesthesia. Such an association of cutaneous and neurological features in the upper back is known as Notalgia Paresthetica (NP). NP is believed to represent a neuropathy of the posterior dorsal nerve rami. Unlike the two previously reported families, the histological, immunohistochemical and ultrastructural analysis of the skin biopsies of the French patients did not show any amyloid material. This suggests that the presence of amyloid may not be a constant feature of the cutaneous lesions associated with MEN 2A. We consider these lesions as a form of dorsal neuropathy rather than a cutaneous lichen amyloidosis. Whatever their origin, these cutaneous lesion usually precede the appearance of the neoplastic lesions of MEN 2A. They may act as an early clinical marker that must be searched for in each subject at risk for MEN 2A. In addition, all patients presenting with NP should be screened for MEN 2A.

Adrenal Gland Neoplasms↗
PubMed1992

Genetic heterogeneity of early-onset familial breast cancer.

A gene for early-onset familial breast cancer has recently been mapped to the chromosome 17q12-23 region. In order to confirm the gene location, we have tested an extensive early-onset breast cancer family with 4 markers in this chromosome region. Linkage was negative with all 4 markers. This study suggests that there is genetic heterogeneity among early-onset breast cancer families.

Base Sequence↗
PubMed1992

[Retinoblastoma].

Retinoblastoma (RB) is the most frequent ocular tumor in childhood. Due to recent advances in molecular biology, RB has become a study model for cancer suppressor genes, and antenatal diagnosis has now become feasible. The goals of therapy include an improved survival rate, decrease in iatrogenic sequelae (especially enucleation), and avoidance of radio-induced neoplasias. This review examines recent data from the literature.

Child↗
PubMed1992

Genetic analysis of 24 French families with multiple endocrine neoplasia type 2A.

The gene for multiple endocrine neoplasia type 2A (MEN2A) has been mapped to the pericentromeric region of chromosome 10 by linkage analysis. Thirty-four families with multiple cases of medullary carcinoma of the thyroid (MTC), including 24 families with origins in France, have been typed with nine polymorphic markers spanning the centromere of chromosome 10. No recombination was observed between the MEN2A locus and either of the four loci D10Z1 (lod score 12.79), D10S102 (lod score 6.38), D10S94 (lod score 7.76), and D10S34 (lod score 5.94). There was no evidence for genetic linkage heterogeneity in the panel of 34 families. Haplotypes were constructed for a total of 11 polymorphisms in the MEN2A region, for mutation-bearing chromosomes in 24 French families and for 100 spouse controls. One haplotype was present in four MEN2A families but was not observed in any control (P less than .01). Two additional families share a core segment of this haplotype near the MEN2A gene. It is likely that these six families have a common affected ancestor. Because the incidence of pheochromocytoma among carriers varies from 0% to 74% within these six families, it is probable that additional factors modify the expression of the MEN2A gene.

Adrenal Gland Neoplasms↗