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PubMed1976

CEA family syndrome. Abnormal carcinoembryonic antigen (CEA) levels in asymptomatic retinoblastoma family members.

Plasma carcinoembryonic antigen (CEA) levels were studied in all available members of 17 families in which a presumed sporadic retinoblastoma had occurred. In 9 of the 17 families, close relatives of the patient had elevated CEA levels in the absence of demonstrable disease; this we have termed the "CEA family syndrome." In two families (Nos. 8 and 17) one or both parents and all of the siblings had elevated CEA levels. To our knowledge, this is the first report of abnormal CEA levels in unaffected family members of patients with nonadenocarcinoma-type malignancies. As follow-up studies of such families become available, detection of the "CEA family syndrome" may prove to be a useful means of locating individuals with inherited premalignant or malignant conditions and may provide a stimulus for additional clinical examination of asymptomatic individuals considered at risk for developing malignancies.

Adenocarcinoma↗
PubMed2004

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.

Multiple familial trichoepithelioma (MFT) and familial cylindromatosis are two clinically distinct cancer syndromes. MFT patients developed mostly trichoepithelioma in the face while cylindromatosis patients developed cylindromas predominantly (approximately 90%) on the head and neck. However, multiple familial trichoepithelioma is occasionally associated with familial cylindromatosis while cylindromatosis patients can also develop trichoepithelioma. This has led to the speculation that the 2 types of dermatoses may be caused by dysfunction of a common pathway. Previously, a candidate MTF locus has been mapped to 9p21 while disease gene for familial cylindromatosis, the CYLD gene located on 16q21-13 has been identified. Here, we show that mutations in the CYLD gene are also the genetic basis for three different Chinese families with MFT. Sequence analysis reveal a single nucleotide deletion, c.1462delA (P.Ile488fsX9) in exon 9, a nonsense mutation, c.2128C>T (p. Gln710X) in exon 17, and a missense mutation, c.2822A>T (p. Asp941Val) in exon 21 in each of the three families respectively. This provides direct evidence that the mutations in CYLD can cause two clinically distinct cancer syndromes.

China↗
PubMed2005

Familial association of prostate cancer with other cancers in the Swedish Family-Cancer Database.

BACKGROUND: Familial associations between cancer sites may implicate true familial clustering which is relevant for the identification of new cancer syndromes and for clinical counseling. METHODS: We used the nation-wide Swedish Family-Cancer Database, containing 10,553 sons and 107,518 fathers with prostate cancer among a total of 170,000 cancer patients in the 0- to 70-year-old offspring generation and over 800,000 cancer patients in the parental generation. We calculated familial standardized incidence ratios (SIRs) and confidence intervals (CIs) for prostate cancers and other cancers in family members. RESULTS: SIRs for prostate cancer were increased in sons when mothers were diagnosed with breast and ovarian cancers, and when siblings were diagnosed with Hodgkins disease (1.78, N = 18, 95% CI 1.05-2.82) and leukemia (1.39, 43, 1.01-1.88). Liver cancer and melanoma were also in excess in the high-risk families. CONCLUSIONS: The present analysis, the largest yet carried out, found many novel associations implying familial links between prostate cancer and other sites.

Adolescent↗
PubMed1978

Familial clustering and immune response in family contacts of patients with HBsAg-positive liver cirrhosis.

Families of 11 patients with hepatitis B surface antigen (HBsAg)-positive cirrhosis were studied to evaluate the immunologic correlates and extent of intrafamilial HBsAg clustering. Of 76 family contacts, 12 were identified to be asymptomatic carriers of HBsAg and two were diagnosed to have HSsAg-positive cirrhosis. The over-all HBsAg prevalence for the 76 contacts was 18% and that for all 87 members studied 29.0%. Serologic evidence of hepatitis B virus (HBV) infection (either HBsAg, anti-HBs, or both) was detected in 59% of all family members. HBsAg was more prevalent in males (47%) compared with females (16%), and anti-HBs was more prevalent in females (42%) compared with males (18%). Evidence of an immunologic response in clinically unaffected HBsAg-negative family contacts consisted of elevated serum IgG levels (mean 1660 mg/100 ml) and increased prevalence of anti-smooth muscle and antimitochondrial antibodies (16% and 6%, respectively). The prevalence of one or more autoantibodies in all HBsAg-negative family contacts was 20%, and it was higher in females (25%) than in males (13%). The present study demonstrates that HBsAg clustering occurs in families of patients with cirrhosis in the Jerusalem area and indicates that HBsAg-negative family contacts may have increased B-cell activity.

Adult↗
PubMed2002

Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.

We describe an Italian family with familial hemiplegic migraine (FHM), subtle cerebellar signs and probable linkage to chromosome 1. FHM is genetically heterogeneous; in about 50% of families it is caused by mutations within the CACNA1A gene on chromosome 19. Linkage to 1q31 and 1g21-23 has also been established. Other families do not link either to chromosome 19 or 1. Chromosome 19-linked FHM may display nystagmus and cerebellar ataxia. Affected family members were neurologically examined; linkage analysis was performed with markers for chromosomes 19p13, 1q21-23, and 1q32. Five family members had hemiplegic migraine, and 3 displayed additional cerebellar signs (scanning speech and nystagmus). In 1 patient, episodes of hemiplegic migraine triggered by mild head trauma. Epilepsy and mental retardation were also found in 1 affected relative each. Lod scores for linkage to 19p13 were negative, while the maximum two-point lod score was 1.81 to 1q21-23. This family with FHM and associated subtle cerebellar signs, epilepsy and mental retardation showed probable linkage to 1q21-23.

Adult↗
PubMed1994

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation.

BACKGROUND/AIMS: Familial adenomatous polyposis is caused by germline mutation of the adenomatous polyposis coli (APC) gene. Affected individuals develop hundreds of colorectal adenomas at young age and can have extracolonic lesions. METHODS: This study evaluated the phenotype of 74 patients with familial adenomatous polyposis from 11 unrelated families with an identical 5-base pair deletion at codon 1309 of the APC gene. RESULTS: Polyp density in the sigmoid colon of 16 patients from 9 families varied from 3.8 to 13.1/cm2, and mean polyp diameter ranged from 1.4 +/- 0.1 to 2.7 +/- 0.1 mm. The distribution of colonic adenomas also varied, with diffuse polyposis in 6 patients but relative polyp sparing in the more proximal colon in 6 others. Age at diagnosis of colorectal cancer ranged from 19 to 62 years, but the mean age did not differ among the 4 families with multiple cases. Colorectal cancers occurred predominantly in the rectosigmoid (80%) but also in the more proximal colon. The percentage of patients affected by various extracolonic lesions differed widely among and within the 11 families (range, 0%-100%). CONCLUSIONS: APC gene mutation at codon 1309 results in intrafamily and interfamily phenotypic variation in familial adenomatous polyposis. Environmental and/or other genetic factors must play roles in the expression of germline APC gene mutations.

Adenomatous Polyposis Coli↗
PubMed2004

Neural correlates of the effects of morphological family frequency and family size: an MEG study.

Schreuder and Baayen (Schreuder. R., & Baayen, R. H. (1997). How complex simplex words can be. Journal of Memory and Language 37, 118-139) report that lexical decision times to nouns are not sensitive to the cumulative frequency of the noun's morphological derivatives in its "morphological family", even though such a cumulative frequency effect is obtained in the domain of inflection. Under a decomposition view of derivational morphology, this constitutes a puzzling exception to the robust finding that lexical frequency is one of the major determinants of behavioral response latencies. If morphologically complex words are decomposed, each occurrence of a member of a noun's morphological family should add to its root-frequency. We investigated the effects of morphological family frequency on the magnetoencephalographic response component M350, which shows sensitivity to factors affecting early stages of lexical processing, including lexical frequency. We hypothesized that high morphological family frequency should have a facilitory effect on the M350, even though no such effect can be seen in response time, presumably due to competition among possible root-affix combinations. Contrary to this hypothesis, we found that high family frequency elicits an M350 inhibition, suggesting that competition among morphological family members occurs at the M350. The result is significant, since there is evidence that competition among phonologically similar words occurs after, not at, the M350. Thus, our results suggest that competition within a morphological family precedes competition within a phonological similarity neighborhood.

Adult↗
PubMed2004

Effects of plant stanol and sterol esters on serum phytosterols in a family with familial hypercholesterolemia including a homozygous subject.

We studied the concentrations and ratios to cholesterol of noncholesterol sterols reflecting absorption (eg, campesterol) or synthesis (eg, lathosterol) of cholesterol off and on plant sterol and stanol ester spreads in serum and in different lipoproteins of a family with familial hypercholesterolemia, including heterozygous parents receiving no treatment and their homozygous offspring undergoing long-term treatment with statins and apheresis. Serum cholesterol levels were similar in the homozygous and heterozygous individuals, but the concentrations of sterols reflecting cholesterol absorption were as much as 10 times greater in the homozygous child than in the heterozygous parents, whereas the respective markers of cholesterol synthesis only tended to be higher. About 70% of squalene in the homozygous individual (60% in the heterozygous family members) and 85% to 90% of noncholesterol sterols (60%-80% in the heterozygous subjects) were transported by low-density lipoprotein. The ratios of absorption sterols to cholesterol were higher in high-density lipoprotein (HDL) than in very low-density lipoprotein (VLDL), whereas those of synthesis markers and plant stanols were highest in VLDL. The ratios of absorption sterols in serum were mostly lower than those in HDL but higher than in VLDL, whereas the ratios of synthesis sterols in serum were lower than they were in VLDL. Both spreads reduced serum total cholesterol by about 14% in the heterozygous family members and 9% in the homozygous individual. The sterol ester spread increased serum plant sterol concentrations (eg, campesterol in the homozygous family member increased from 5 to 9 mg/dL) and the ratios to cholesterol, but the stanol ester spread decreased them. Plant sterol esters seemed to similarly decrease serum cholesterol in this family with familial hypercholesterolemia, but the clinical role of increased plant sterol concentrations, almost doubled in the LDL of homozygous individuals, is not known.

Adult↗
PubMed1996

Familial segregation in the occurrence and severity of periampullary neoplasms in familial adenomatous polyposis.

BACKGROUND: Familial adenomatous polyposis (FAP) patients often develop periampullary adenomas that may progress to periampullary cancer, a common cause of death in this population. The risk of periampullary cancer in FAP is unclear, and variables that predict the occurrence and severity of periampullary tumors are not well understood. The specific aim of this study was to determine whether the risk of periampullary neoplasia segregates in specific FAP families. MATERIALS AND METHODS: A total of 144 FAP patients from 74 families were either screened by gastroduodenoscopy (n = 132) or information was obtained from surgical or autopsy reports (n = 12). The severity of periampullary neoplasia was recorded for each patient and graded based on maximum polyp size and histology. Linear regression was used to determine the significance of a number of variables with respect to periampullary neoplasia. A blood sample was available from at least one member of 50 unrelated families and used to detect germline mutations in codons 686 through 1693 of the adenomatous polyposis coli (APC) gene. RESULTS: Statistically significant familial segregation was found for the incidence and severity of periampullary neoplasia (P < 0.02). Age was also a statistically significant variable (P < 0.01). No correlation was observed between specific APC germline mutations and periampullary polyp frequency and severity. CONCLUSIONS: The occurrence and severity of periampullary neoplasms in patients with FAP segregates in families. This familial association may be related to as yet unidentified modifier genes or perhaps common environmental factors. These results should prove useful in developing upper gastrointestinal screening protocols for FAP patients at risk for periampullary neoplasia.

Adenoma↗
PubMed2002

Positive family history for coronary heart disease and 'midband lipoproteins' are potential risk factors of carotid atherosclerosis in familial hypercholesterolemia.

Patients with heterozygous familial hypercholesterolemia (FH) were examined with B-mode ultrasound in order to determine intima-media thickness (IMT) in the common carotid artery, and to uncover potential risk factors responsible for the development of IMT. Ninety seven FH subjects and 132 non FH type IIa hyperlipidemic subjects were involved in the present study. Age was found to correlate positively with IMT in both FH and non FH groups. FH individuals showed a higher IMT, along with elevated low density lipoprotein (LDL) cholesterol levels, compared with age-matched non FH individuals. To clarify potential factors contributing to the formation and development of carotid atherosclerosis, we divided the FH subjects into two subgroups, namely FH with high IMT group (HIG), and those with low IMT group (LIG). We investigated those two subgroups on the presence of angiographically documented coronary heart disease (CHD), of family history of CHD and of 'midband lipoproteins' by polyacrylamide gel electrophoresis (PAGE) analysis, by matching for age and LDL-cholesterol (LDL-C) level. Fifty percent of FH men in HIG was found to have CHD, whereas only 14% of those in LIG had CHD (P<0.05). Thirty-three percent of FH women in HIG was found to have CHD, whereas only 12% of those in LIG had CHD (P<0.05). Fifty percent of FH men in HIG was found to have 'midband lipoproteins', whereas only 7% of those in LIG had 'midband lipoproteins' (P<0.01). Seventy-three percent of FH women in HIG had 'midband lipoproteins', whereas only 21% of those in LIG had 'midband lipoproteins' (P<0.0005). Fifty-five percent of FH men in HIG was had positive family history for CHD, whereas only 14% of those in LIG had positive family history for CHD (P<0.05). Sixty-three percent of FH women in HIG was found to have positive family history for CHD, whereas only 29% of those in LIG had positive family history for CHD (P<0.05). Based on these findings, we propose that, besides age and elevated levels of LDL-C, positive family history for CHD and 'midband lipoproteins' are important determinants for the development of carotid atherosclerosis in FH individuals in Japanese population.

Carotid Artery Diseases↗
PubMed2002

Family history of cardiovascular events and endothelial dysfunction in children with familial hypercholesterolemia.

OBJECTIVES: in patients with familial hypercholesterolemia (FH), the propensity towards atherosclerosis may vary considerably. In the general population, a positive family history is associated with an increased risk for cardiovascular events. Since endothelial dysfunction is predictive for future cardiovascular events, we evaluated whether FH-children with a positive family history of premature cardiovascular disease have more pronounced endothelial dysfunction compared to children with a negative family history. STUDY DESIGN: 50 FH children, 10-18 years, participated in this study. Thirty-one children had a positive family history for cardiovascular events (fh(+)) and 19 children had no events in the family (fh(-)). Nineteen matched siblings participated as controls. Endothelial function was assessed by testing the flow mediated dilatation (FMD) of the brachial artery. RESULTS: baseline characteristics were comparable for fh(+), fh(-) and controls. Lipid levels were significantly higher in FH children. In FH, FMD was impaired compared to controls (11.7+/-4.4 vs. 15.6+/-6.8%, P<0.03). In addition, FMD was significantly lower in fh(+) compared to fh(-) (10.7+/-9.9 vs. 13.3+/-4.6%, P<0.05). CONCLUSION: In FH-children, endothelial function is impaired compared to matched controls. This impairment is most pronounced in FH children with a positive family history of premature cardiovascular disease.

Adolescent↗
PubMed2003

An MRI study of subgenual prefrontal cortex in patients with familial and non-familial bipolar I disorder.

BACKGROUND: Over the past few years there has been an interest in the use of magnetic resonance imaging (MRI) to study specific brain regions in bipolar disorder. The present study compared the grey matter volume in the subgenual prefrontal cortex in patients with familial and non-familial bipolar disorder and normal control subjects. METHODS: MRI brain scans were performed on 12 patients with bipolar I disorder including six patients with a positive family history of bipolar disorder as well as eight control subjects. RESULTS: There was a significant reduction in the grey matter volume in the right subgenual prefrontal cortex, but not in the left subgenual prefrontal cortex. A family history x sex interaction with right prefrontal cortex volume was also observed as a trend. For females, a positive family history was associated with reduced right prefrontal cortex volumes; for males, a positive family history was associated with increased right prefrontal cortex volumes. LIMITATIONS: Small sample size, reduced statistical power. CONCLUSION: These data add to the emerging literature on structural changes in the subgenual prefrontal cortex in bipolar disorder, especially in patients with a positive family history.

Adult↗
PubMed1996

The influence of familial and non-familial factors on the association between major depression and substance abuse/dependence in 1874 monozygotic male twin pairs.

The co-occurrence of major depression (MD) with alcohol and illicit substance abuse/dependence (A/D) has been repeatedly observed. However, prior research has been unable to determine whether or not the co-occurrence is a result of familial vulnerability or non-familial influences. The present study examines the association of the lifetime diagnosis of MD with alcohol, cannabis, amphetamine, cocaine, and sedative A/D (DSM-III-R criteria) before and after controlling for familial factors in a non-clinical sample of 1874 middle aged, monozygotic male twin pairs. A lifetime diagnosis of MD was significantly associated with lifetime diagnosis of alcohol and illicit substance A/D prior to accounting for familial factors (odds ratios: 1.8-4.5). After employing a co-twin analytical technique to control for familial factors, a lifetime diagnosis of MD remained significantly associated only with lifetime diagnoses of cannabis, amphetamine and sedative A/D (odds ratios: 2.3-10.9). These results suggest that the association between MD and alcohol A/D is influenced by familial factors. In contrast, the association between MD and illicit substances of A/D is largely explained by non-familial factors.

Adult↗
PubMed1999

Familial cancers in a nationwide family cancer database: age distribution and prevalence.

We calculated sex- and age-specific familial relative risks (FRRs) of cancer in offspring of cancer probands at 19 male and 20 female cancer sites, based on the nationwide Family Cancer Database from Sweden. The proportion of familial cancers among all cancers was also determined. The database contained 550,000 primary cancers. The familial risk at known sites: colon, breast, ovary, testis, skin (melanoma), nervous system, thyroid and other endocrine glands were confirmed. The FRR of thyroid cancer exceeded any other cancer and was over twice as high for male as for female offspring, and appeared to constitute an early- and late-onset component. Novel register-based findings were familial risks in cervical and uterine cancer, and in male offspring of male probands kidney and skin (mainly squamous cell) cancer. Familial risks were noted also for lung cancer, lymphoma and leukaemia but they may have largely environmental causes. The proportion of familial cancers depended on the site, ranging from 11% in prostate to 8.7% in female breast and to well below 1% at many sites.

Adult↗
PubMed2000

Familial prostate cancer from the family-cancer database.

The aim of this study was to calculate the familial risk for prostate cancer (PC) for different family relationships. PC was studied in the Swedish Family-Cancer Database, updated in 1999 to cover individuals born after 1934 with their biological parents, totalling 9.6 million persons. Cancer data were obtained from the Swedish Cancer Registry from 1958 to 1996 and included 1035 PC cases amongst offspring. 188 families were identified where a father and a son had PC, giving a familial standardised incidence ratio (SIR) of 2.44 (2.10-2.80). The proportion of familial cancers was 18.2% amongst all PC amongst all PC amongst sons. There were only 5 pairs of affected brothers, of which 3 had an affected father. Age of onset modified familial risks modestly; the highest SIR of 4.43 (1.40-9.17) was for sons diagnosed before 50 years of age when the father was diagnosed before 65 years of age. When analysed across sites, an association of PC in one generation and stomach, liver and skin cancer and myeloma in another generation was observed. The link was most consistent for skin cancer. No maternal site was associated with a son's PC, although the SIR of breast cancer was 1.22 (0.95-1.53). No increased risk of malignancy was observed in wives of affected men excluding any shared environmental effect for PC and female cancers.

Age Distribution↗
PubMed1990

Familial risk factors and the familial aggregation of psychiatric disorders.

All major psychiatric disorders aggregate in families. For most disorders, both genes and environmental factors play an important role in this aggregation. While recent work has tended to concentrate on the importance of genetic factors, this report focuses on the potential importance of environmental risk factors which themselves aggregate in families. In particular, this article examines how much of the familial aggregation of a psychiatric disorder may result from the familial aggregation of a risk factor. The model is illustrated and then applied to putative familial risk factors for schizophrenia and depression. The results of the model suggest that if parental loss and exposure to pathogenic rearing practices are true risk factors for depression, then they could account for a significant proportion of the familial aggregation of depression. By contrast, the model predicts that even if obstetric injury and low social class are true risk factors for schizophrenia, they together would account for only a very small proportion of the tendency for schizophrenia to aggregate in families.

Depressive Disorder↗
PubMed2005

Effects of a family literacy program on low-literate children and their parents: findings from an evaluation of the Even Start family literacy program.

A randomized experiment was conducted to test the effectiveness of Even Start, a federally supported family literacy program providing early childhood education, adult education, parenting education, and joint parent-child literacy activities to children and parents from low-literate families. The evaluation of 18 Even Start projects followed 463 families for 2 years and found no statistically significant or educationally important impacts on Even Start families when they were compared with control families on child literacy outcomes, parent literacy outcomes, or parent-child interactions. The study concludes that Even Start projects were able to properly implement family literacy programs, and the observed lack of effectiveness is attributed to a combination of 2 factors: (a) a lack of full participation on the part of families and (b) instructional services that may be ineffective because of the curriculum content or the instructional approach.

Adolescent↗
PubMed2006

Follow-up analysis of PSORS9 in 151 Chinese families confirmed the linkage to 4q31-32 and refined the evidence to the families of early-onset psoriasis.

Psoriasis linkage to 4q28-32 (PSORS9) was initially identified by our genome-wide scan in 61 Chinese families and subsequently supported by a meta-analysis of five genome-wide linkage scans of European populations. In this study, we performed a follow-up analysis of PSORS9 using an additional 90 families and improved marker coverage. Joint analysis of all 151 families obtained significant linkage evidence (HLOD=4.53, nonparametric linkage (NPL)=4.03 (P=0.000003)) at the marker interval D4S2997-D4S3033, and the same was obtained for the analysis of the independent new families (HLOD=4.33, NPL=3.15 (P=0.00004)). The linkage evidences from the whole families and the new families exceeded the genome-wide criteria for significant linkage. Furthermore, by performing an ordered subset analysis using mean age at onset as a covariate, we demonstrated that evidence for linkage to PSORS9 is concentrated in the early-onset families and suggested that further study of PSORS9 should focus on early-onset patients. This finding is contradictory to what was found in the Icelandic population and, together with other linkage results, suggests that Chinese and European populations are genetically different for linkage to PSORS9, which may partially explain the influence of ethnic factors on the varying prevalence of psoriasis.

Age of Onset↗