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Biomedical subjects

V Sele

Publications and source records attributed to V Sele.

At least 19 recordsLinked to original sources
PubMed1996

Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.

Nine different germ-line mutations in the BRCA1 breast and ovarian cancer susceptibility gene were identified in 15 of 47 kindreds from southern Sweden, by use of SSCP and heteroduplex analysis of all exons and flanking intron region and by a protein-truncation test for exon 11, followed by direct sequencing. All but one of the mutations are predicted to give rise to premature translation termination and include seven frameshift insertions or deletions, a nonsense mutation, and a splice acceptor site mutation. The remaining mutation is a missense mutation (Cys61Gly) in the zinc-binding motif. Four novel Swedish founding mutations were identified: the nucleotide 2595 deletion A was found in five families, the C 1806 T nonsense mutation in three families, the 3166 insertion TGAGA in three families, and the nucleotide 1201 deletion 11 in two families. Analysis of the intragenic polymorphism D17S855 supports common origins of the mutations. Eleven of the 15 kindreds manifesting BRCA1 mutations were breast-ovarian cancer families, several of them with a predominant ovarian cancer phenotype. The set of 32 families in which no BRCA1 alterations were detected included 1 breast-ovarian cancer kindred manifesting clear linkage to the BRCA1 region and loss of the wild-type chromosome in associated tumors. Other tumor types found in BRCA1 mutation/haplotype carriers included prostatic, pancreas, skin, and lung cancer, a malignant melanoma, an oligodendroglioma, and a carcinosarcoma. In all, 12 of 16 kindreds manifesting BRCA1 mutation or linkage contained ovarian cancer, as compared with only 6 of the remaining 31 families (P<.001). The present study confirms the involvement of BRCA1 in disease predisposition for a subset of hereditary breast cancer families often characterized by ovarian cancers.

Adult↗
PubMed1994

[Differentiation of benign and malignant ovarian tumors by transluminal ultrasound scanning].

We intended to evaluate ultrasonographic criteria for differentiation of benign and malignant ovarian tumours, and to estimate the risk of malignancy in unilocular ovarian cysts. The files of 186 women aged 40 or above, who had undergone surgery in the department of gynaecology and obstetrics at Hillerød hospital between 01.01.1988-31.12.1990 and where pathological ovarian histology was found were reviewed. Preoperative ultrasonographic examination concerning size and morphology was compared to histological diagnosis. Tumours were classified according to the ultrasonographic internal structure into a) unilocular cysts, b) unilocular cysts with solid areas, c) multilocular cysts, d) multilocular cysts with solid areas and e) solid tumours. Criteria for suspicion of malignancy were unilocular cysts > 10 cm and complex and solid tumours, whereas smaller unilocular cysts were thought to be benign. Twenty-one tumours, diagnosed by ultrasound as unilocular cysts were all histologically benign, independently of size. For complex and solid tumors there was an increased risk of malignancy, and a statistically significant correlation between tumour size and risk of malignancy was found. Using the ultrasonographic criteria for malignancy a sensitivity of 97% and a specificity of 28% was found. The suggested criteria for ultrasonographic suspicion of malignancy were found usable in differentiating benign and malignant ovarian tumours. The risk of malignancy for unilocular cysts seems to be low, independently of size.

Adult↗
PubMed1987

Altered progesterone/estrogen receptor ratios in endometriosis. A comparative study of steroid receptors and morphology in endometriosis and endometrium.

In a comparative study of endometriosis and endometrium, specimens were taken from both endometriotic and endometrial tissue in 14 patients. Receptor assays and histological examinations were performed on both specimens. Cytosolic estrogen receptors (ERc) as well as cytosolic progesterone receptors (PRc) were detected in 9/14 and 12/12 cases of endometriosis respectively. Nuclear estrogen receptors (ERn) were detected in 4/4 cases of endometriosis. Expressed as fmol/mg cytosol protein, significantly higher values of both ERc and PRc were found in endometrium than endometriosis (p less than 0.01). However, when the ratio between PRc and ERc was considered, significantly higher PRc/ERc ratios were found in the cytosol of endometriotic tissue (p less than 0.01). Thus the lower receptor concentrations found in endometriosis cannot be explained solely as ectopic endometrium being diluted by nonreceptor-containing tissue. In spite of high PRc/ERc ratios in endometriosis, secretory changes similar to those found in endometrium were observed in only one of 7 cases (p less than 0.05).

Adult↗
PubMed1980

Monozygotic twins with dissimilar phenotypes and chromosome complements.

A case history of monozygotic twins is presented. Twin A showed gonadal dysgenesis and chromosomal mosaicism (45,X0/46,XX). Twin B was a phenotypical normal female with the karyotype 46,XX. Fifteen previous reports of monozygotic twins with gonadal dysgenesis are reviewed. Dissimilar phenotypes seem to be the rule rather than the exception, and mosaicism is found in the majority of cases with dissimilar phenotype. The assumption is made that the chromosome disorder leading to gonadal dysgenesis arises postzygotically, eigher before or after the process leading to twinning.

Adolescent↗
PubMed1978

Oestrogen treatment and subsequent pregnancy in two patients with severe hypergonadotrophic ovarian failure.

This report describes in detail the histological and hormonal findings in a patient with Turner's syndrome (45,XO) and a patient with premature menopause (46,XX), who both conceived after withdrawal or reduction of substitution therapy with oestrogens. The aetiology of severe hypergonadotrophic ovarian failure is discussed, and theories regarding a possible relationship between the oestrogen treatment and subsequent pregnancy are hypothesized.

Adult↗