Familial risk of cancer: Data for clinical counseling and cancer genetics

Hemminki, Kari; Li, Xinjun; Czene, Kamila

doi:10.1002/ijc.11478

Cited by 103 publications

(70 citation statements)

References 55 publications

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“…9 The higher risks for siblings compared to parent-offspring pairs suggest a recessive component or childhood shared effects. This is the first study providing familial risks by sex of the proband and the relative.…”

mentioning

confidence: 99%

The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database

Altieri

Hemminki

2006

Leukemia

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confidence: 99%

The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database

Altieri

Hemminki

2006

Leukemia

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“…Sons of men with TC have a four-to six-fold increased risk of TC, and brothers have an eight-to ten-fold increase in risk when compared with the general population. 7,8 Many hereditary disorders or constitutional chromosomal anomalies have been reported in patients who developed seminomatous or nonseminomatous testicular carcinoma. 9 A clinical phenotype for familial testicular cancer has not yet been established for male and female relatives; therefore, we do not yet know whether any other types of male or female cancers, altered fertility or physical stigmata are associated with inheriting a susceptibility to testicular cancer.…”

mentioning

confidence: 99%

Familial testicular cancer: Interest in genetic testing among high-risk family members

Peters

Vadaparampil

Kramer

et al. 2006

Genetics in Medicine

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Purpose: This study is part of an ongoing National Cancer Institute multidisciplinary, etiologically-focused, crosssectional study of Familial Testicular Cancer (FTC). The current report targets interest in clinical genetic testing for susceptibility to FTC. Methods: Demographics, knowledge, health beliefs, and psychological and social factors were evaluated as covariates related to interest in genetic testing. Results: The majority (66%) of 229 participants (64 affected men, 66 unaffected men, and 99 women) from 47 multiple-case FTC families expressed interest in having a genetic test within 6 months, should such a test become available. Interest was similar among the three subgroups mentioned above. Worries about insurance discrimination based on genetic test results were associated with a significantly lower interest in testing. Alternatively, participants were more likely to be interested in genetic testing if they were younger and had higher levels of family support, a physician's recommendation supporting testing, cancer distress, and a need for information to inform the health care of their children.

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“…The Swedish family dataset, the Multigeneration Register, has been validated and extensively used in the study of familial cancer. 21,22 Reliable data on familial risks for a potentially fatal disease, such as aneurysms, are of particular importance for clinical counseling and targeted surveillance. Such data benefit even gene identification strategies.…”

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confidence: 99%

Familial risks of aortic aneurysms among siblings in a nationwide Swedish study

Hemminki

Johansson

et al. 2006

Genetics in Medicine

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Purpose: Aortic aneurysms have a high fatality rate that could be reduced with control of risk factors and use of available screening methods for detection of early changes in aortic walls. The available data on familial risks, a potential indication for screening, are mainly limited to abdominal aortic aneurysms. Methods: A nationwide Standardized incidence ratios (SIRs) were calculated for affected siblings by comparing with those whose siblings had no aneurysm. Results: A total of 71 affected siblings were identified with a familial SIR of 8.71; when one sibling was diagnosed before age 50 years, the SIR was 19.69. For concordant thoracic or concordant abdominal aneurysms, the SIRs were 21.68 and 13.06, respectively. For brothers, the risk of abdominal aneurysms was 14.63, and 49.50 for diagnosis before age 50 years. Familial risks and the effects of early diagnostic age were shared by the anatomic subtypes of aneurysms. Within limits of the sample size, no gender differences could be observed. Affected siblings constituted 2.2% of all diagnosed patients. Conclusions: A family history of any aortic aneurysms and age groups younger than 50 years should be considered in recommendations for screening. The Key Words: familial disease, sibling risk, heritability, screening, population-based Aneurysms are swellings of the blood vessels, and on rupture, they are often fatal. Aneurysms are most common in the abdominal and thoracic parts of the aorta. The lesions in the ascending aorta are often dissections, that is, separations of aortic media that extend to distal segments of the affected vessel. 1-3 The known risk factors for aortic aneurysms include male gender, atherosclerosis, hypertension, smoking, vascular malformations, heritable traits, and family history. 3-5 Atherosclerotic lesions preferentially affect the descending aorta, whereas medial degeneration is the most common lesion in the ascending aorta. 2 Aneurysms are usually a result of a degenerative or an autoimmune disease, including, historically, latestage syphilitic infections. 2,6,7 The pathogenesis of aneurysms involves reduction in elastic compliance of the aortic wall, reduction in medial matrix connective tissue fibers composed of fibrillin, elastin, and collagen, and proneness to progressive damage. 2,3 Important mechanical components in this cascade are extracellular matrix defects, proteolytic enzymes, matrix metalloproteinases capable of degrading elastin and collagen, proteinase inhibitors, and persistent inflammation. 3,5 Marfan syndrome is an autosomal dominant condition in which mutated fibrillin 1 prevents an orderly assembly of the elastic fibers. Dissections are one of the manifestations in this condition. 2 Various types of vascular fragility are also found in excess in one form of Ehlers-Danlos syndrome, which is caused by defects in collagen structure and metabolism. 2,8 Familial clustering of aneurysms is well known, based on anecdotal reports and clinical series, covering both abdominal and thoracic aorta. Some 5% to 20% of th...

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Familial risk of cancer: Data for clinical counseling and cancer genetics

Cited by 103 publications

References 55 publications

The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database

The familial risk of Hodgkin's lymphoma ranks among the highest in the Swedish Family-Cancer Database

Familial testicular cancer: Interest in genetic testing among high-risk family members

Familial risks of aortic aneurysms among siblings in a nationwide Swedish study

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