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Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population
In inherited and familial cardiovascular diseases (CVDs), relatives without current symptoms can still be at risk for early and preventable...
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Calculating variant penetrance from family history of disease and average family size in population-scale data
BackgroundGenetic penetrance is the probability of a phenotype when harbouring a particular pathogenic variant. Accurate penetrance estimates are...
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Modifiable lifestyle factors have a larger contribution to colorectal neoplasms than family history
BackgroundScreening recommendations for colorectal cancer (CRC) are mainly based on family history rather than lifestyle risk factors. We aimed to...
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Family History and the Risk of Breast and Gastric Cancer
Epidemiologists have used family history, usually of first-degree relatives, as a marker for genetic risk, knowing that family history reflects the...
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Efficacy of Community Health Worker–Delivered Family Health History-Based Breast Cancer Education and Services Among Chinese Americans
Family health history (FHH) is an evidence-based genomics tool used in cancer prevention and education. Chinese Americans, the largest Asian American...
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Genetics and Family History of Alcohol Use Disorders
Alcohol use disordersAlcohol use disorders (AUD) are complex traits that are moderately heritable. A variety of approaches have been developed that...
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Weight, weight gain and behavioural risk factors in women attending a breast cancer family history, risk and prevention clinic: an observational study
BackgroundWeight and health behaviours impact on breast cancer risk. We describe trends in weight and health behaviours in women at entry to a...
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Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family history
Background & aimsWe aimed to assess the performance of European-derived polygenic risk scores (PRSs) for common metabolic diseases such as coronary...
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Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews
BackgroundRisk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to...
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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data...
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Do current family history-based genetic testing guidelines contribute to breast cancer health inequities?
Prior to the recommended age for population-based breast cancer screening by mammography, which ranges from 40−50 years depending on guidelines, the...
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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence
Background and aimsSummarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer...
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A need to tailor surveillance based on family history: describing a highly penetrant familial paraganglioma kindred with an SDHD pathogenic variant
Pathogenic variants (PVs) in the SDHD gene increase risk for paragangliomas (PGL)/pheochromocytomas, renal cell carcinomas, and gastrointestinal...
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Family history, obesity, urological factors and diabetic medications and their associations with risk of prostate cancer diagnosis in a large prospective study
BackgroundProstate cancer (PC) aetiology is unclear. PC risk was examined in relation to several factors in a large population-based prospective...
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Exploiting family history in aggregation unit-based genetic association tests
The development of sequencing technology calls for new powerful methods to detect disease associations and lower the cost of sequencing studies....
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Randomised controlled trial of breast cancer and multiple disease prevention weight loss programmes vs written advice amongst women attending a breast cancer family history clinic
BackgroundOverweight and obesity are common amongst women attending breast cancer Family History, Risk and Prevention Clinics (FHRPCs). Overweight...
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Family history of breast cancer as a second primary malignancy in relatives: a nationwide cohort study
BackgroundWith the increasing number of breast cancer (BC) diagnosed as a second primary malignancy after a first primary non-breast cancer (BCa-2),...
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Increased family history documentation in internal medicine resident continuity clinic at a community hospital through resident-led structured genetic education program
We aim to assess residents’ perspectives and clinical utility of obtaining family history (FH) as well as to improve the rate of FH documentation in...
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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
BackgroundWomen who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders,...
