Genomics in the Scientific Literature [5] - Family History

Family History
1. Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: The Fremantle Diabetes Study
Bruce DG, et al.
Diabetes Care 2010 Apr

Diabetes Care. 2010 Apr 5. [Epub ahead of print]
Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: The Fremantle Diabetes Study.
Bruce DG, Van Minnen K, Davis WA, Mudhar J, Perret M, Subawickrama DP, Venkitachalam S, Ravine D, Davis TM.

School of Medicine and Pharmacology, University of Western Australia, Nedlands, Western Australia, Australia.
Abstract
AbstractObjective - To investigate whether parental family history (FH) of diabetes influences cardiovascular outcomes in type 2 diabetes. Research Design and Methods - We studied 1294 type 2 patients (mean age 64.1 years, 51.2% female) recruited to a community-based cohort study from 1993 to 1996 and followed until mid-2006. A data linkage system assessed all-cause and cardiac mortality, incident myocardial infarction (MI) and stroke. Cox proportional hazards modelling was used to determine the influence of maternal or paternal FH on these outcomes. Results - A maternal FH of diabetes was reported by 20.4% of the cohort, 8.3% reported paternal FH and 2.0% reported both parents affected. Maternal and paternal FH were associated with earlier age of diabetes onset and maternal FH was associated with worse glycemic control. For all patients, maternal FH was significantly associated with reduced risk of all-cause mortality and cardiac mortality. When analyzed by gender, maternal FH had no effect on male patients whilst females with diabetic mothers had significantly reduced hazard ratios for death from all-causes (0.63 (95%CI 0.41-0.96), P=0.033), cardiac causes (0.32 (0.14-0.72), P =0.006) and for first MI (0.45 (0.26-0.76), P=0.003). Paternal FH status was not associated with these outcomes. Conclusions - A maternal FH of diabetes confers relative protection against cardiovascular disease in females but not males with type 2 diabetes. Paternal FH is associated with risks equivalent to non-familial diabetes. Some of the clinical heterogeneity of type 2 diabetes is related to maternal transmission effects with differential impact on males and females.

PMID: 20368412 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20368412?dopt=Abstract



2. Population-based study of BRCA1/2 mutations: Family history based criteria identify minority of mutation carriers
Mateju M, et al.
Neoplasma 2010;57(3):280-5

Neoplasma. 2010;57(3):280-5.
Population-based study of BRCA1/2 mutations: Family history based criteria identify minority of mutation carriers.
Mateju M, Stribrna J, Zikan M, Kleibl Z, Janatova M, Kormunda S, Novotny J, Soucek P, Petruzelka L, Pohlreich P.

Abstract
The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intensive clinical follow-up or prophylactic surgery. Generally accepted inclusion criteria for BRCA1/2 mutation testing are based either upon family history of breast or ovarian cancer or young age at cancer diagnosis. In order to analyze the impact of BRCA1/2 mutations on breast cancer development in the Czech population and to confront the clinical and histopathological data of mutation carriers with current criteria for mutation testing we examined the frequency of mutations in unselected breast cancer cases. Mutational analysis of BRCA1/2 genes performed in 679 unselected female breast cancer patients included all recurrent deleterious alterations previously identified in the Prague area and truncating mutations in the whole exon 11 of BRCA1. Within analyzed gene sequences more than 80% of mutations were identified previously in high-risk patients. A total of 16 breast cancer patients (2.4%) carried a mutation. BRCA1 mutations were identified in 14 (2.1%) whereas BRCA2 in 2 (0.3%) women. Family history of ovarian cancer was a strong predictor of a BRCA1/2 mutation (OR = 8.3; p = 0.01), however, family history of breast cancer was not indicative of carrier status. A significant association between medullary breast cancer and mutation status was observed. Current criteria for BRCA1/2 mutation testing would distinguish only 6 out of 16 (37.5%) carriers identified in our study. Ten breast cancer patients with confirmed BRCA1/2 germ-line mutation exhibited no clinical characteristics that would predict their carrier status. Therefore, we believe that the testing for BRCA1/2 mutations in the Czech Republic may not be restricted only to high-risk patients. Our results indicate that analysis of locally prevalent BRCA1/2 mutations in all breast cancer patients might extend substantially the percentage of identified mutation carriers. Keywords: hereditary breast cancer, BRCA/2 mutation analysis, population-based study.

PMID: 20353281 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20353281?dopt=Abstract



3. Predictors of breast cancer screening behavior in women with a strong family history of the disease
Price MA, et al.
Breast Cancer Res Treat 2010 Apr

Breast Cancer Res Treat. 2010 Apr 4. [Epub ahead of print]
Predictors of breast cancer screening behavior in women with a strong family history of the disease.
Price MA, Butow PN, Charles M, Bullen T, Meiser B, McKinley JM, McLachlan SA, Phillips KA; kConFab Psychosocial and Clinical Follow-Up groups on behalf of the kConFab Investigators.

Centre for Medical Psychology and Evidence-based Decision-making, School of Psychology, The University of Sydney, Brennan MacCallum Building (A18), Sydney, NSW, 2006, Australia, melanie.price@sydney.usyd.edu.au.
Abstract
This study applied the self-regulation model to examine cognitive and emotional predictors of screening in unaffected women with a strong family history of breast cancer. 748 unaffected female members of an Australian registry of multiple-case breast cancer families formed the sample. Participants completed a baseline psychosocial questionnaire and a screening questionnaire 3 years later. Multinomial logistic regression was employed to determine predictors of under- and over-screening according to national guidelines. At follow-up 16% of women under-screened and 10% over-screened with mammography; 55% under-screened with clinical breast examination (CBE); and 9% over-screened with breast self-examination (BSE). Of the women found screening according to guidelines for mammography 72% reported ever having received specific recommendations for mammography screening from a health professional. Compared to appropriate screeners, under-screeners on mammography were less likely to have received a screening recommendation (as were under-screeners on CBE), were younger and reported lower perceived breast cancer risk, but were at higher relative risk (RR) of breast cancer and were more likely to report elevated depression. Over-screeners on mammography were more likely to be younger and have a lower RR of breast cancer. Over-screeners on BSE reported elevated cancer-specific anxiety, were less likely to be university educated and more likely to have received a recommendation for BSE. Under- and over-screening is common in women with a strong family history of breast cancer. Evaluation of interventions targeting perceived risk of breast cancer, anxiety and depression are needed to ensure women obtain accurate advice from relevant specialists and enact screening recommendations.

PMID: 20364401 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20364401?dopt=Abstract