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Family Health History PHGKB

Specific PHGKB|Family Health History PHGKB|PHGKB

Last Posted: Dec 07, 2023
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Influence of family history on penetrance of hereditary cancers in a population setting.
Leigh Jackson et al. EClinicalMedicine 2023 11 102159 (Posted Nov 14, 2023 8AM)

From the abstract: "Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree family history (relative hazard 10.3 and 7.8, respectively) than those without (7.2 and 4.7). Penetrance to age 60 was also higher in those with a family history (44.7%, CI 32.2-59.3 and 24.1%, CI 17.5-32.6) versus those without (22.8%, CI 15.9-32.0 and 17.9%, CI 13.8-23.0). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of colorectal cancer that was significantly higher in those with a family history (relative hazard 35.6, 48.0 and 9.9) "

Association Between a First-Degree Family History and Self-Reported Personal History of Obesity, Diabetes, and Heart and Blood Conditions: Results From the All of Us Research Program.
Danielle Rasooly et al. J Am Heart Assoc 2023 11 e030779 (Posted Nov 13, 2023 8PM)

From the abstract: "We assessed the association between a self-reported family history of ODHBs and their risk in the adult population (age =20 years) of the AoU (All of Us) Research Program, a longitudinal cohort study of diverse participants across the United States. We conducted a family history-wide association study to systematically assess the association of a first-degree family history of 15 ODHBs in AoU. We use the FamWAS method to estimate 225 familial associations among 15 ODHBs. The results include overlapping associations between family history of different types of cardiometabolic conditions (such as type 2 diabetes and coronary artery disease), and their risk factors (obesity, hypertension), where adults with a family history of 1 ODHB exhibited 1.1 to 5.6 times (1.5, on average) the odds of having a different ODHB. "

Personalized Initial Screening Age for Colorectal Cancer in Individuals at Average Risk.
Xuechen Chen et al. JAMA Netw Open 2023 10 (10) e2339670 (Posted Oct 27, 2023 9AM)

From the abstract: "How can risk variation in individuals without a family history of colorectal cancer (CRC) be translated into personalized starting ages of screening? In this cohort study of 242?779 participants with no previous screening for and no family history of CRC, derivation of risk-adapted starting ages of screening used 2 major CRC risk indicators, sex and a polygenic risk score (PRS), based on the risk advancement period concept. Risk-adapted starting ages varied by as much as 24 years between men in the highest PRS decile and women in the lowest PRS decile, even among individuals at average risk. "

How to Talk to Your Family About Their Heart Health History Even if you’re not super close to your relatives, you’ve got options.
K Miller, Self, September 2023 (Posted Sep 16, 2023 2PM)

From the website: "If someone in your bio family has heart problems, don’t freak out: It doesn’t mean that you’ll automatically develop them too. Yes, that does increase your risk of developing an issue—but there are loads of other factors that might be meaningful, and this genetic link is just one part of a fuller picture. Bring any information you turn up to a primary care physician first (if you’re not already seeing a specialist): Depending on what you share, your PCP might refer you to a cardiologist who can take a closer look at your overall health, as well as any symptoms that could be indicative of a larger cardiovascular issue. "

news Latest News and Publications
Unawareness of breast cancer family history among African women. External Web Site Icon
Babatunde Adedokun et al. Pan Afr Med J 2023 45188
Affected brother as the highest risk factor of type 1 diabetes development in children and adolescents: One center data before implementing type 1 diabetes national screening. External Web Site Icon
Anna Wedrychowicz et al. Adv Clin Exp Med 2023
Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment. External Web Site Icon
Basmah Alhassan et al. Ann Surg Oncol 2023
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use. External Web Site Icon
Neeta L Vora et al. Prenat Diagn 2023
Rate of Pathogenic Germline Variants in Patients With Lung Cancer. External Web Site Icon
Steven Sorscher et al. JCO Precis Oncol 2023 7e2300190
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer. External Web Site Icon
Jennifer Thalita Targino Dos Santos et al. Genes (Basel) 2023 14(11)
Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer. External Web Site Icon
Hareem Syed et al. J Natl Compr Canc Netw 2023 21(11) 1156-1163.e5
Colorectal Cancer Screening for Persons With a Positive Family History—Evaluation of the FARKOR Program for the Secondary Prevention of Colorectal Cancer in Persons Aged 25 to 50. External Web Site Icon
Alexander Crispin et al. Dtsch Arztebl Int 2023 (Forthcoming)
Current practice of cancer predisposition testing in pediatric patients with CNS tumors in the United States. External Web Site Icon
Baylee Roy et al. Pediatr Blood Cancer 2023 e30725
Family History and Risk of Renal Cell Carcinoma: A National Multi-Register Case-Control Study. External Web Site Icon
Rasmus G Jakobsson et al. J Urol 2023 101097JU0000000000003765


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