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Constitutional chromosome instability in families with patients affected by sporadic non-hereditary retinoblastoma

100%

Zajaczek S., Gorski B., Krzystolik Z., Lubinski J.

Journal of Applied Genetics

1999

vol. 40

issue 4

343-353

It has been suggested that chromosome instability is a constitutional factor which may be characteristic of families with an increased risk for the development of malignancies. In this study spontaneous chromosome aberrations, sister chromatid exchanges (SCEs) and chromosome sensitivity to bleomycin were analysed in cultured lymphocytes from 13 families with sporadic non-hereditary unilateral retinoblastoma patients. The significantly increased chromosome instability was detected only by the bleomycin test. Higher mean values of breaks/cell were found in all groups of relatives: patients, parents and siblings.

Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers

64%

Gorski B., Debniak T., Jakubowska A., Cybulski C., Huzarski T., Byrski T., Zlowocka E., Lubinski J.

Journal of Applied Genetics

2003

vol. 44

issue 3

419-423

Founder mutations can account for a large proportion of BRCA1/BRCA2 gene abnormalities in a given population. However there is still a need to study the entire gene in many families, even in countries where founder mutations have been identified. It is possible to decrease the number of cases which are studied by complex and expensive sequencing/Southern blot analyses of BRCA1/BRCA2 genes by exclusion of common BRCA1/BRCA2 alleles in a given family by using polymorphic dinucleotide markers. The goal of our study was to assess the effectiveness of this method in exclusion of BRCA1/BRCA2 constitutional mutations. In each family, blood samples for genetic analyses were taken from two affected relatives from the same generation. Six polymorphic microsatellite markers linked to BRCA1/BRCA2 genes were analysed. Results obtained with these markers were verified by applying BRCA1 testing for the most common founder mutations in Poland and using ?exon by exon? sequencing of coding fragments of the BRCA2 gene. Polymorphic markers useful in BRCA1/BRCA2 analyses included only 3 of 6 examined ? D17S855, D13S260 and D13S267. Occurrence of common alleles of BRCA1 was excluded in 3 families and BRCA2 in 5 out of 30 families. Results obtained by testing for BRCA1 Polish founder mutations and BRCA2 sequencing were in agreement with BRCA1 findings based on polymorphic markers. The only exception was family 994 with BRCA1 exon 5 300T/G mutation, in which BRCA1 mutation carrier was excluded by using D17S855. Among 14 families without BRCA1 Polish founder mutations in this gene were excluded in 2 families and BRCA2 mutation was excluded in one family.

Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations

52%

Menkiszak J., Brzosko M., Gorski B., Flicinski J., Jakubowska A., Zebielowicz D., Gronwald J., Huzarski T., Byrski T., Teresinski L., Chosia M., Rzepka-Gorska I., Lubinski J.

Journal of Applied Genetics

2004

vol. 45

issue 2

255-263

The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. The final study group included 117 patients who had 726 I0 relatives (359 females and 367 males). We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations.

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3 Journal of Applied Genetics

1 2004

1 2003

1 1999

3 Gorski B.

3 Lubinski J.

2 Byrski T.

2 Huzarski T.

2 Jakubowska A.

1 Brzosko M.

1 Chosia M.

1 Cybulski C.

1 Debniak T.

1 Flicinski J.

1 Gronwald J.

1 Krzystolik Z.

1 Menkiszak J.

1 Rzepka-Gorska I.

1 Teresinski L.

1 Zajaczek S.

1 Zebielowicz D.

1 Zlowocka E.

Search results

Constitutional chromosome instability in families with patients affected by sporadic non-hereditary retinoblastoma

Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers

Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations