Fanconi's anemia. A family study with 20-year follow-up including associated breast pathology

Jacobs, P; Karabus, C. D.

doi:10.1002/1097-0142(19841101)54:9<1850::aid-cncr2820540914>3.0.co;2-g

Cited by 12 publications

(5 citation statements)

References 21 publications

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“…An impaired bioenergetic capacity dysfunction of muscle mitochondria was found in patients with type 2 diabetes, and higher insulin resistance was associated with more severe damage in mitochondria [ 43 ]. Forth, hyperglycemia may lead to a decline in muscle strength via krüppel-like factor 15 protein [ 44 ], which has been found to regulate skeletal muscle lipid flux as well as exercise adaptation [ 45 ]. Finally, individuals with hyperglycemia were found to have higher levels of inflammatory cytokines such as interleukin-6 and tumor necrosis factor-alpha [ 46 , 47 ] and these inflammatory factors may also have some adverse effects on muscle mass [ 48 , 49 ].…”

Section: Discussionmentioning

confidence: 99%

Glycaemia and hand grip strength in aging people: Guangzhou biobank cohort study

et al. 2020

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Background There is a link between hyperglycemia and mechanical functions of muscle. However, existing evidence of the association between hyperglycemia and weaker muscle strength is limited and inconsistent. We examined whether glycemic status was associated with relative grip strength (RGS) in older Chinese. Methods In 2008–2012, 9180 participants (2516 men and 6664 women) from the Guangzhou Biobank Cohort Study had fasting and 2-h post-load glucose measured. Glycemic status was categorized as normoglycaemia, prediabetes (i.e., impaired fasting glucose and/or impaired glucose tolerance) and diabetes. RGS was assessed using a Jamar Hydraulic Hand Dynamometer divided by body mass index. General linear model was used to assess the association of glycemic status with RGS. Results After adjusting for age, smoking status, alcohol use, physical activity, health status, body fat percentage and waist circumference, in men, hyperglycemia was associated with a lower RGS, with the RGS being 1.38 (95% confidence interval (CI) = 1.34, 1.42) in normoglycaemia, 1.35 (95% CI = 1.30, 1.39) in prediabetes, 1.33 (95% CI = 1.29, 1.38) in newly diagnosed diabetes and 1.32 (95% CI = 1.27, 1.37) in known diabetes (P for trend < 0.001). The association of glycemic status with RGS was non-significant in women. Among the normoglycaemic group, no association was found between fasting glucose and RGS in men, whereas a significantly inverse association was found in women, with adjusted β for RGS per mmol/l increase in fasting glucose being − 0.05 to − 0.04 (P values from 0.002 to 0.03). Conclusions Higher fasting glucose was associated with reduced grip strength in a dose-response manner, and the association was significant even in women with normoglycaemia. Our findings suggest that lowering glucose across the whole range might be important in preserving muscle strength, especially in aging women.

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Section: Discussionmentioning

confidence: 99%

Glycaemia and hand grip strength in aging people: Guangzhou biobank cohort study

et al. 2020

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“…Functional defects of DNA repair are a hallmark of genomic instability syndromes as well as of carcinogenesis. FA is a genome instability and cancer prone disorder that has been investigated for breast cancer predisposition in homozygotes and heterozygotes for more than three decades 11,12 . Monoallelic mutations in five FA genes ( BRCA1 , BRCA2 , PALB2 , RAD51C , BRIP1 ) have now been confirmed to predispose to breast or ovarian cancer while biallelic mutations in these genes cause FA 3 .…”

Section: Discussionmentioning

confidence: 99%

Two truncating variants in FANCC and breast cancer risk

Investigators

2019

Sci Rep

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Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC , has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1 , BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.

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“…The erythroid lineage usually shows hyperplasia with erythroblastic islands, megaloblastic changes and dysplasia. 108,110,111 As dysplasia limited to the erythroid lineage is frequently found in FA, one must be very hesitant to regard these findings as MDS ( Figure 5). Chioc et al described the morphological and cytogenetic characteristics of FArelated MDS.…”

Section: Fanconi Anaemiamentioning

confidence: 99%

“…Megakaryocytes are often decreased in number. The erythroid lineage usually shows hyperplasia with erythroblastic islands, megaloblastic changes and dysplasia 108,110,111 . As dysplasia limited to the erythroid lineage is frequently found in FA, one must be very hesitant to regard these findings as MDS (Figure 5).…”

Section: Fanconi Anaemiamentioning

confidence: 99%

The pathology of bone marrow failure

Leguit

Tweel

2010

Histopathology

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Leguit R J & van den Tweel J G (2010) Histopathology 57, 655–670 The pathology of bone marrow failure An important indication for bone marrow investigation is the presence of bone marrow failure, which manifests itself as (pan)cytopenia. The causes of cytopenia are varied and differ considerably between childhood and adulthood. In the paediatric age group inherited bone marrow failure syndromes are important causes of bone marrow failure, but they play only a minor role in later life. This review gives a comprehensive overview of bone marrow failure disorders in children and adults. We classified the causes of bone marrow failure according to the main presenting haematological abnormality, i.e. anaemia, neutropenia, thrombocytopenia or pancytopenia. The following red cell disorders are discussed: red cell aplasia, sideroblastic anaemia, congenital dyserythropoietic anaemia, haemolytic anaemia, paroxysmal nocturnal haemoglobinuria, iron deficiency anaemia, anaemia of chronic disease and megaloblastic anaemia. The neutropenias occur in the context of Shwachman–Diamond syndrome (SDS), severe congenital neutropenia, cyclic neutropenia, immune‐related neutropenia and non‐immune neutropenia. In addition, the following causes of thrombocytopenia are discussed: congenital amegakaryocytic thrombocytopenia, thrombocytopenia with absent radii, immune‐related thrombocytopenia and non‐immune thrombocytopenia. Finally, we pay attention to the following pancytopenic disorders: Fanconi anaemia, dyskeratosis congenita, aplastic anaemia, myelodysplastic syndromes and human immunodeficiency virus (HIV) infection.

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Fanconi's anemia. A family study with 20-year follow-up including associated breast pathology

Cited by 12 publications

References 21 publications

Glycaemia and hand grip strength in aging people: Guangzhou biobank cohort study

Glycaemia and hand grip strength in aging people: Guangzhou biobank cohort study

Two truncating variants in FANCC and breast cancer risk

The pathology of bone marrow failure

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