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PubMed2001

Cancer genetics.

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Cell Transformation, Neoplastic↗
PubMed1992

Early loss of heterozygosity on 17q in ovarian cancer. The Abe Ovarian Cancer Genetics Group.

We have studied 146 ovarian tumours (94 carcinomas, 22 tumours of low malignant potential and 30 benign tumours) for evidence of allele loss on chromosome 17p and 17q sufficient to imply the proximity of a tumour-suppressor gene. We have examined two polymorphic loci (YNZ22.2 and BHP53) on 17p13 and one on chromosome 17q (17q23-qter). Loss of heterozygosity (LOH) was detected in 34/63 (54%) informative malignant tumours at YNZ22.2 and 22/47 (47%) at BHP53; on 17q, 45/64 (70%) had LOH. Allele loss was detected in a small number of benign and borderline tumours. There was a statistically significant difference between the patterns of allele loss in serous and endometrioid groups of tumours, and allele loss occurred with significantly greater frequency on 17q than on 17p. Comparison of all malignant tumours presenting with either localized (FIGO stage I/II) or widespread (FIGO stage III/IV) disease showed that, particularly on 17q, allele loss increases in the more advanced stages. The p53 tumour-suppressor gene is implicated in ovarian carcinogenesis, and our findings suggest that an important tumour-suppressor gene may be located in the region 17q23-qter. Loss of function in this gene may be responsible for the frequently observed rapid progression of serous-type adenocarcinomas to an advanced stage.

Alleles↗
PubMed2004

Dermatofibrosarcoma protuberans and breast cancer: genetic link or coincidental association?

Dermatofibrosarcoma protuberans is a low-grade cutaneous neoplasm originating from the dermis with a high propensity for local recurrence. These malignancies are classified as soft tissue sarcoma although regional or distance metastatic spread is rare. Germ-line mutations of p53 have been described with a rare autosomal dominant syndrome in patients with soft tissue sarcoma and breast adenocarcinoma (Li Fraumeni's syndrome). The described case illustrates the rare occurrence of dermatofibrosarcoma protuberans (DFSP) and breast adenocarcinoma with an emphasis on the possibility of a molecular or genetic association.

Adult↗
PubMed2004

[Prospective study of families on a genetic cancer registry].

The Familial Cancer Register, Moscow, established in 1990, has a record of pedigrees of 6,000 cancer patients. The records on the probands and families have been studied since 1995. The paper presents the data of a repeat survey of the families conducted in 1990-1995. Only 794 out of 3,000 families, included in the first survey, responded. Relapse was reported in 135 probands and/or relatives from 108 families. The following subgroups were identified depending on the rates of cancer morbidity in familial histories (the criteria are presented): 1) no incidence; 2) few cases; (3) more cases, and (4) all family members have cancer. New tumors were detected in one-third of such families. A direct correlation was found between the morbidity rates and neoplasia incidence. In 12 families of group 3, originally, not all the members had tumors.

Adult↗
PubMed2005

Practical cancer genetics, genomics and proteomics.

Functional genomics is the science that defines the function of newly identified genes and translates this knowledge into related health and disease. Functional genomics is complex, involving multiple scientific disciplines including computational biology, genetics, physiology, structural biology, and molecular and cell biology. Due to its inherent complexity, the National Institutes of Health (NIH) has termed functional genomics "the science of collaboration." This paper will review microarray gene expression analysis, proteomics, and the impact of molecular medical genetics on medical care.

Gene Expression↗