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At least 523 records · Page 29Linked to original sources
PubMed2003

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Ca(v)2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na(+),K(+)-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.

Adolescent↗
PubMed2005

Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis.

PURPOSE: Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease. METHODS: We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis. RESULTS: We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were nonsymptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases. CONCLUSIONS: Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

A review on family history of breast cancer: screening and counseling proposals for women with familial (non-hereditary) breast cancer.

With the aim to specify screening recommendations for women with familial (non-hereditary) breast cancer (FBC) we analysed 59 studies using quantitative methods of pooling. The pooled relative risk (RR) and cumulative probability were used to estimate breast cancer risk. The RRs for women with a family history of breast cancer in a first-degree relative was 2.03 (95% CI 1.09-2.22). The highest RR is observed for women with a family history and atypical hyperplasia in their breast biopsy specimen (RR = 10.87, 95% CI 6.05-19.69). A high cumulative probability before the age of 50 was only found for women with a combination of two risk factors: a family history and atypical hyperplasia, namely 19% (95% CI 11-33%). The cumulative probabilities of women aged 50 to 70 years who have a family history were between 11% (95% CI 9-13%, a family history in combination with age at first birth before 22 years) and 53% (95% CI 35-75%, a family history in combination with atypical hyperplasia). These high risks suggest that women over 50 years of age who have a family history of FBC have to be actively encouraged to participate in a screening program consisting of a biannual palpation by a specialist, an annual mammogram and a monthly self-control. Yearly screening is recommended for women under 50 years of age who have a family history and atypical hyperplasia. These recommendations remain valid until the effectiveness of such screening programs is assessed.

Aged↗
PubMed1998

Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group.

The recent isolation of breast cancer predisposing genes (BRCA1 and BRCA2) allows the identification of carriers within affected families. These carriers have a 50-85% risk of developing breast or ovarian cancer and need careful follow-up. The purpose of this study was to evaluate the management and screening protocols implemented in high risk families at various family cancer clinics in Europe. A questionnaire was mailed to the members of the European Familial Breast Cancer Collaborative Group (n = 30) requesting information on the following issues: indication for surveillance of breasts and ovaries, the recommended protocol, coordination of the screening examination, prophylactic surgery, the specific management of breast cancer in a mutation carrier and the use of oestrogen. 16 centres from nine countries responded. Most centres recommend surveillance of the breasts if the lifetime risk exceeds 15-20%. The surveillance protocol that is generally advised comprises monthly self breast examination, examination by a specialist every 6 months and annual mammography, all starting from an age between 25 and 35 years. Surveillance of the ovaries is recommended in BRCA1 and BRCA2-mutation carriers, in members from breast/ovarian cancer families and in some centres in 'breast cancer only' families with an early onset of breast cancer. The recommended protocol includes gynaecological examination, sonography and estimation of CA-125 at yearly intervals starting from the age 30-35 years. Prophylactic mastectomy is considered for proven mutation carriers in some centres. Most centres consider prophylactic oophorectomy in mutation carriers and some centres also consider it for members of breast/ovarian cancer families. This survey provides insight into the guidelines for surveillance and management of familial breast cancer used at various family cancer clinics in Europe; this insight may contribute to the appropriate management of these high risk women. It should be emphasised that most recommendations are based on experts' opinion rather than on any specific studies.

Adult↗
PubMed2000

Clinical characteristics of familial and non-familial bipolar disorder.

OBJECTIVE: To explore the clinical characteristics of familial and non-familial bipolar disorder. METHOD: Twenty subjects with bipolar disorder, who also had a family history of bipolar disorder in a first degree relative, were matched for current age, age of first onset of bipolar disorder and gender with 20 subjects with bipolar disorder who had no family history of any psychiatric disorders in first or second degree relatives. RESULTS: Fourteen subjects in each group were female. The mean age at interview was 45.2 years and the mean age at first admission was 26 years. Although familial and non-familial probands had an equivalent number of illness episodes, familial probands were significantly more likely to experience mixed states as compared to non-familial probands. The latter experienced significantly more depressive episodes and had significantly higher neuroticism (N) scores on the Eysenck Personality Inventory (EPI; Eysenck H, Eysenck S. Manual of the Eysenck Personality Inventory. London: University of London Press, 1964.). CONCLUSIONS: If the results are replicated, they have important implications. For example, such data may aid decisions about the targeting of additional psychosocial interventions in high N score cases. Researchers will wish to investigate whether mixed states show a stronger association with early age of onset or family history of BD.

Adult↗