Статті в журналах: "Brea (famille)"

1

MOON, MARY ANN. "Noncarriers in BRCA Families at Average Risk." Internal Medicine News 44, no. 19 (November 2011): 44–45. http://dx.doi.org/10.1016/s1097-8690(11)70958-1.

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2

Mealiffe, M. E. "Sex Ratios in Families With BRCA Mutations." JAMA: The Journal of the American Medical Association 290, no. 19 (November 19, 2003): 2544—a—2544. http://dx.doi.org/10.1001/jama.290.19.2544-b.

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3

Barcenas, Carlos H., G. M. Monawar Hosain, Banu Arun, Jihong Zong, Xiaojun Zhou, Jianfang Chen, Jill M. Cortada, et al. "Assessing BRCA Carrier Probabilities in Extended Families." Journal of Clinical Oncology 24, no. 3 (January 20, 2006): 354–60. http://dx.doi.org/10.1200/jco.2005.02.2368.

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Purpose Carrier prediction models estimate the probability that a person has a BRCA mutation. We evaluated the accuracy of the BOADICEA model and compared its performance with that of other models (BRCAPRO, Myriad I and II, Couch, and Manchester Scoring System). We also studied the effect of extended family information on risk estimation using BOADICEA. Methods We compared the area under receiver operating characteristic curves generated from 472 families with one member tested for BRCA mutations. We calculated sensitivity, specificity, and predictive values at an estimated probability of 10% and explored the biases of carrier prediction. Results BOADICEA performed better than the other models in Ashkenazi Jewish (AJ) families, BRCAPRO performed slightly better in non-AJ families, and Myriad II performed comparably well in both groups. Including extended family information in BOADICEA yielded slightly better performance than did limiting the information to second-degree relatives. Using a 10% cutoff point, BOADICEA and Myriad II were most sensitive in predicting BRCA1/2 mutations in AJ families, and Myriad II was most sensitive in non-AJ families. The Manchester Scoring System was the most sensitive and least specific in a subgroup of non-AJ families. BOADICEA and BRCAPRO tended to underestimate the observed risk at low estimated probabilities and overestimate it at higher probabilities. Conclusion The BOADICEA, BRCAPRO, and Myriad II models performed similarly. Including second-degree relatives slightly improved carrier prediction by BOADICEA. The Myriad II model was the easiest to implement.

4

Katki, Hormuzd A., Mitchell H. Gail, and Mark H. Greene. "Breast-cancer risk in BRCA -mutation-negative women from BRCA -mutation-positive families." Lancet Oncology 8, no. 12 (December 2007): 1042–43. http://dx.doi.org/10.1016/s1470-2045(07)70348-0.

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5

de la Hoya, M. "Sex Ratios in Families With BRCA Mutations--Reply." JAMA: The Journal of the American Medical Association 290, no. 19 (November 19, 2003): 2544—b—2545. http://dx.doi.org/10.1001/jama.290.19.2544-c.

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6

Pisanelli, M. B., E. Panizza, F. Carbonardi, C. Iridile, M. G. Cavazzini, S. Carra, M. Cantore, and F. Adami. "Cancer with BRCA mutations in high-risk families." Annals of Oncology 26 (October 2015): vi14. http://dx.doi.org/10.1093/annonc/mdv336.35.

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7

Nedelcu, Raluca, Alexander Liede, Jennifer Aubé, Amy Finch, Elaine Kwan, Elaine Jack, Steven A. Narod, Susan Randall, Lara Hugel, and Katherine Clark. "BRCA mutations in Italian breast/ovarian cancer families." European Journal of Human Genetics 10, no. 2 (February 2002): 150–52. http://dx.doi.org/10.1038/sj.ejhg.5200755.

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8

Lobet, Delphine, and Lidia Eugenia Cavalcante. "Transmission à rebours, filiation inversée, socialisation ascendante : regards renversés sur les rapports de générations." Enfances, Familles, Générations, no. 20 (May 30, 2014): i—xii. http://dx.doi.org/10.7202/1025326ar.

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Cet article introductif propose un aperçu de la situation présente de la recherche en sciences sociales sur la question des rapports de génération étudiés dans le sens inverse au sens habituel, c’est-à-dire dans le sens enfants-parents. Comment la recherche traite-t-elle cette importante question de la transmission à rebours, de la socialisation inversée, de la filiation ascendante, en bref comment traite-t-elle cette question : que font les enfants à leurs parents et à leur famille? Il propose ensuite de réfléchir au contexte actuel de l’accélération des savoirs : quel impact la société de l’information multiconnectée peut-elle avoir sur les rapports parents-enfants en ce qui concerne la transmission et la socialisation, précisément? Enfin, nous reviendrons sur les « trouvailles », sur les principales découvertes que les auteurs de ce numéro d’Enfances Familles Générations ont retirées de l’exercice de renversement du regard auquel ils se sont prêtés.

9

Gomas, J. M. "Le syndrome de Diogène : quand la pathologie somatique extrême vient masquer la pathologie psychiatrique." European Psychiatry 28, S2 (November 2013): 79–80. http://dx.doi.org/10.1016/j.eurpsy.2013.09.212.

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L’irruption de la maladie somatique grave chez un patient Diogène entraîne une cascade de conséquences rarement vues dans les approches rationnelles « normales ». Pendant la vie ambulatoire, à domicile, le refus d’investigations rend le diagnostic bien difficile sinon impossible, jusqu’à la complication entraînant l’hospitalisation ; cette complication est parfois le seul moyen de pénétrer « la bulle d’irréel » de la vie de ces patients. Attendre cette complication n’est pas sans danger, mais cela semble parfois la moins mauvaise voie possible pour éviter la contention violente d’une hospitalisation de force qui se passe toujours mal. En fin de vie, ces patients ont souvent besoin du cadre d’une unité de soins palliatifs tellement leur fin de vie est compliquée :– la sévérité des complications somatiques véritablement invraisemblables, du fait de la négligence de lésions par ailleurs théoriquement améliorables ;– « l’explosion familiale » car c’est régulièrement à l’occasion de la maladie somatique grave que la famille découvre l’état du domicile ou prend vraiment conscience de la psychose ou de la démence du proche.Souvent la famille a un double travail à faire, alors, dans ce qui se découvre « a posteriori » de la vie du patient, véritable bouleversement psychique qui concerne à la fois :– la réalité de la pathologie de structure familiale ;– l’aggravation de la maladie par sa non prise en compte, entraînant des situations qui étaient à l’origine évitables.Enfin, ultime épreuve dantesque, après le décès, la famille devra vider l’appartement au milieu des bestioles en tout genre, trier des quintaux de documents, d’emballages, de bricoles ou d’immondices… et découvrir avec horreur des archives insoupçonnées, des cartons de photos terribles, bref des pans entiers, cachés et pathologiques, de la vie de leurs proches. Un soutien prolongé et un travail psychothérapique sont alors nécessaires pour les survivants.

10

Mitchell, Rachel, Lela Buckingham, Melody Cobleigh, Jacob Rotmensch, Kelly Burgess, and Lydia Usha. "Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?" PLOS ONE 13, no. 4 (April 16, 2018): e0195497. http://dx.doi.org/10.1371/journal.pone.0195497.

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11

Cohen-Haguenauer, Odile. "Prédisposition héréditaire au cancer du sein (1)." médecine/sciences 35, no. 2 (February 2019): 138–51. http://dx.doi.org/10.1051/medsci/2019003.

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L’oncogénétique a pour objectif principal de caractériser une sous-population à haut risque de développement de cancers à un âge précoce afin de préconiser les recommandations pour un parcours optimisé de suivi et de soins. La consultation d’oncogénétique contribue à évaluer un risque individuel à partir d’une histoire familiale. Par une approche familiale de génétique formelle, il s’agit de repérer les familles avec une forte agrégation de cancers, éventuellement évocatrice d’un syndrome de prédisposition héréditaire. Cette démarche peut conduire à la proposition d’un test génétique constitutionnel à la recherche de mutations causales. Jusqu’à une période récente, la recherche de mutation constitutionnelle sur les gènes BRCA a abouti à l’identification d’une mutation délétère chez moins de 10 % des cas-index analysés. Il est donc important d’évaluer l’impact de nouveaux gènes dans le panorama actuel de la prédisposition héréditaire au cancer du sein et de l’ovaire.

12

Toss, Angela, Marta Venturelli, Eleonora Molinaro, Stefania Pipitone, Elena Barbieri, Isabella Marchi, Elena Tenedini, et al. "Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies." Cancers 11, no. 2 (February 7, 2019): 193. http://dx.doi.org/10.3390/cancers11020193.

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The identification of BRCA mutations plays a crucial role in the management of hereditary cancer prevention and treatment. Nonetheless, BRCA-testing in pancreatic cancer (PC) patients is not universally introduced in clinical practice. A retrospective analysis was conducted, firstly, to evaluate the rate of BRCA-positive families among those presenting a family history of PC besides breast and/or ovarian cancer. Secondly, the relationship between BRCA pathogenic variants and PC risk was evaluated. Finally, the characteristics of PC developed in BRCA families were described. Among 5143 family trees reporting breast and/or ovarian cancer cases, 392 showed a family history of PC. A total of 35 families (24.5% selected by the Modena Criteria and 21.3% by the NCCN Criteria) were positive to BRCA testing. Among the BRCA1 mutations, 36.8% were found within a region defined by c.3239–c.3917, whilst 43.7% of BRCA2 mutations were located within c.7180–c.8248. This study confirmed that an increase in the rate of positive tests in families with PC when associated to breast and/or ovarian tumors. Moreover, this analysis indicated two possible Pancreatic Cancer Cluster Regions that should be verified in future research. Finally, PC in families with breast and/or ovarian cancer history, particularly in BRCA families, were diagnosed at younger age and showed better one-year overall survival.

13

Choi, Doo Ho, Min Hyuk Lee, and Bruce G. Haffty. "Double Heterozygotes for Non-Caucasian Families with Mutations in BRCA-1 and BRCA-2 Genes." Breast Journal 12, no. 3 (May 2006): 216–20. http://dx.doi.org/10.1111/j.1075-122x.2006.00245.x.

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14

Vietri, Maria Teresa, Gemma Caliendo, Giovanna D’Elia, Marianna Resse, Amelia Casamassimi, Pellegrino Biagio Minucci, Concetta Dello Ioio, Michele Cioffi, and Anna Maria Molinari. "Five Italian Families with Two Mutations in BRCA Genes." Genes 11, no. 12 (December 3, 2020): 1451. http://dx.doi.org/10.3390/genes11121451.

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Double heterozygosity (DH) in BRCA1 and BRCA2 genes and double mutation (DM) in BRCA1 or BRCA2 are extremely rare events in the general population, and few cases have been reported worldwide so far. Here, we describe five probands, all women, with breast and/or ovarian cancer and their families. Particularly, we identified two probands with DH in the BRCA1/2 genes with a frequency of 0.3% and three probands with DM in the BRCA2 gene with a frequency of 0.5%. The DH BRCA1 c.547+2T>A (IVS8+2T>A)/BRCA2 c.2830A>T (p.Lys944Ter) and BRCA1 c.3752_3755GTCT (p.Ser1253fs)/BRCA2 c.425+2T>C (IVS4+2T>C) have not been described together so far. The DM in BRCA2, c.631G>A (p.Val211Ile) and c.7008-2A>T (IVS13-2A>T), found in three unrelated probands, was previously reported in further unrelated patients. Due to its peculiarity, it is likely that both pathogenic variants descend from a common ancestor and, therefore, are founder mutations. Interestingly, analyzing the tumor types occurring in DH and DM families, we observed ovarian cancer only in DH families, probably due to the presence in DH patients of BRCA1 pathogenic variants, which predispose one more to ovarian cancer onset. Furthermore, male breast cancer and pancreatic cancer ensued in families with DM but not with DH. These data confirm that BRCA2 pathogenic variants have greater penetrance to develop breast cancer in men and are associated with an increased risk of pancreatic cancer.

15

Caligo, M. A., C. Ghimenti, G. Cipollini, S. Ricci, I. Brunetti, V. Marchetti, D. Shattuck-Eidens, P. F. Conte, M. Skolnick, and G. Bevilacqua. "BRCA 1 germline mutational spectrum in 21 Italian families." Cancer Genetics and Cytogenetics 91, no. 2 (October 1996): 112. http://dx.doi.org/10.1016/s0165-4608(97)82515-0.

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16

Brandt, Rachael, Ellie Jeanette DelGiacco, Cristina Nixon, Elizabeth Chao, Jill S. Dolinsky, Virginia Speare, Jamie Mushlin, Ned Z. Carp, and Theresa W. McHugh. "The genetic variation observed in BRCA 1/2 + families." Journal of Clinical Oncology 33, no. 15_suppl (May 20, 2015): e12511-e12511. http://dx.doi.org/10.1200/jco.2015.33.15_suppl.e12511.

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17

Antonelli, Maria Alessandra, and Valeria De Bonis. "Economic Poverty: Does the Break-Up of Families Matter?" Social Sciences 10, no. 6 (June 10, 2021): 224. http://dx.doi.org/10.3390/socsci10060224.

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In this paper we investigate the relationship between family structure and poverty for European countries using Eurostat and OECD data. In particular, we focus on the change in living arrangements, with the traditional type of household—couple with children—being partially replaced by single and extended families. The results of our econometric analysis show that the decline in the traditional family type affects individual poverty: the marriage rate and the share of couples, both with and without children, are inversely related to poverty; the divorce rate, the shares of extended families and singles with children are, instead, positively related to poverty.

18

Pal, Tuya, Susan Vadaparampil, Jongphil Kim, Yan Xu, Sue Friedman, Steven A. Narod, and Kelly Metcalfe. "Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers." Familial Cancer 12, no. 4 (March 16, 2013): 615–19. http://dx.doi.org/10.1007/s10689-013-9624-0.

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19

Huo, Dezheng, Ruby T. Senie, Mary Daly, Saundra S. Buys, Shelly Cummings, Jacqueline Ogutha, Kisha Hope, and Olufunmilayo I. Olopade. "Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States." Journal of Clinical Oncology 27, no. 8 (March 10, 2009): 1184–90. http://dx.doi.org/10.1200/jco.2008.17.5869.

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Purpose BRCAPRO, a BRCA mutation carrier prediction model, was developed on the basis of studies in individuals of Ashkenazi Jewish and European ancestry. We evaluated the performance of the BRCAPRO model among clinic-based minority families. We also assessed the clinical utility of mutation status of probands (the first individual tested in a family) in the recommendation of BRCA mutation testing for other at-risk family members. Patients and Methods A total of 292 minority families with at least one member who was tested for BRCA mutations were identified through the Breast Cancer Family Registry and the University of Chicago. Using the BRCAPRO model, the predicted likelihood of carrying BRCA mutations was generated. Area under the receiver operating characteristic curves (AUCs) were calculated. Results There were 104 African American, 130 Hispanic, 37 Asian-American, and 21 other minority families. The AUC was 0.748 (95% CI, 0.672 to 0.823) for all minorities combined. There was a statistically nonsignificant trend for BRCAPRO to perform better in Hispanic families than in other minority families. After taking into account the mutation status of probands, BRCAPRO performance in additional tested family members was improved: the AUC increased from 0.760 to 0.902. Conclusion The findings support the use of BRCAPRO in pretest BRCA mutation prediction among minority families in clinical settings, but there is room for improvement in ethnic groups other than Hispanics. Knowledge of the mutation status of the proband provides additional predictive value, which may guide genetic counselors in recommending BRCA testing of additional relatives when a proband has tested negative.

20

Sparks, Shirley N., and Rosemary Tisch. "A Family-Centered Program to Break the Cycle of Addiction." Families in Society: The Journal of Contemporary Social Services 99, no. 2 (April 2018): 100–109. http://dx.doi.org/10.1177/1044389418767841.

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Celebrating Families!™ (CF!) is a manualized family-centered program focused on the goal of breaking the cycle of generational substance use disorders (SUDs). It is one of the few evidence-based family-focused practices listed on Substance Abuse and Mental Health Services Administration’s National Registry of Evidence-Based Programs and Practices. Compared to another evidence-based program, Strengthening Families, CF! showed significant impact on family organization, positive parenting, parent involvement, and alcohol and drug use reduction. CF! is shown to be successful in unifying families from family dependency courts and as a prevention program for SUDs when offered by community social service agencies. A preliminary efficacy study illustrates changes within participating families consistent with the goal. The study’s purpose was to test the hypothesis that a family skills program such as CF! changed behavior by reducing risk factors and increasing protective factors. Data from 20 cycles of the program revealed that parents ( N = 263), referred from family drug court, expressed significant behavior changes toward their children in ways that increased protective factors after the 16-week program, and youth ( N = 106) showed better understanding of SUDs. Results suggest that this family skills program can be an intervention program for families at-risk for perpetuating the cycle of addiction, as well as prevention of family violence, abuse, and neglect. Agencies that serve families at risk can use the program to prevent costly foster care placements and SUDs by providing such programs.

21

Ferreccio1,2, Vanina, and Gabriela Manrique. "L’expérience de l’enfermement chez les proches de détenus." Criminologie 52, no. 1 (May 6, 2019): 37–56. http://dx.doi.org/10.7202/1059538ar.

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Cet article porte sur une population croissante et peu explorée dans le paysage argentin : les proches des personnes détenues. À partir d’un travail ethnographique auquel participèrent des personnes détenues et des proches de ces dernières dans des prisons pour hommes et femmes de la province de Santa Fe, en Argentine, nous présentons les multiples aspects qui caractérisent cette population. Une première partie s’intéresse à l’insistance avec laquelle les proches se définissent comme étant « invisibles », non seulement auprès du gouvernement et de ses politiques de soutien, mais aussi auprès du service d’intervention des établissements de détention. La deuxième partie aborde la difficulté pour les proches de se réunir en associations, à cause, d’une part, de la distinction entre les familles qui collaborent avec l’ordre carcéral et les familles cachivaches et, d’autre part, de la violence en prison, qui constitue, à l’extérieur, un frein aux relations entre les proches. La troisième partie se penche sur un mécanisme de protection que doivent adopter de nombreuses femmes au moment de subir la fouille corporelle, soit le déni (Cohen, 2008). La dernière partie aborde la (nouvelle) centralité de la famille comme facteur de différenciation entre les détenus et, par conséquent, leur redéfinition pénitentiaire. Bref, nous montrons qu’il existe une relation bidirectionnelle qui fait en sorte que les proches sont à la fois partie intégrante de l’ordre carcéral et soumis à la gouvernance des logiques pénitentiaires, même en étant « hors » de la prison.

22

Oliver, J. L., P. M. Gaffney, S. K. Allen, M. Faisal, and S. L. Kaattari. "Protease Inhibitory Activity in Selectively Bred Families of Eastern Oysters." Journal of Aquatic Animal Health 12, no. 2 (June 2000): 136–45. http://dx.doi.org/10.1577/1548-8667(200006)012<0136:piaisb>2.0.co;2.

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23

Weisel, C., M. Demak, S. Marcus, and B. D. Goldstein. "Soft plastic bread packaging: lead content and reuse by families." American Journal of Public Health 81, no. 6 (June 1991): 756–58. http://dx.doi.org/10.2105/ajph.81.6.756.

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24

Al-Batrawi, Khaled, and Mouin Rabbani. "Break up of families: a case study in creeping transfer." Race & Class 32, no. 4 (April 1991): 35–44. http://dx.doi.org/10.1177/030639689103200404.

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25

Hall, M., and O. Olopade. "Pancreatic cancer and BRCA mutation in familial breast cancer families." Journal of Clinical Oncology 23, no. 16_suppl (June 2005): 9550. http://dx.doi.org/10.1200/jco.2005.23.16_suppl.9550.

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26

Jardine, Oliver. "A break from Brexit: scenes from general practice in Germany." British Journal of General Practice 67, no. 659 (May 25, 2017): 268. http://dx.doi.org/10.3399/bjgp17x691169.

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27

Mitchell, Wendy. "Better for the Break? Short Break Services for Children and Teenagers with Autistic Spectrum Disorders and their Families." Child Family Social Work 9, no. 1 (February 2004): 124–25. http://dx.doi.org/10.1111/j.1365-2206.2004.t01-5-00317.x.

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González, Antonio, and María Luz Puertas. "Removing Twins in Graphs to Break Symmetries." Mathematics 7, no. 11 (November 15, 2019): 1111. http://dx.doi.org/10.3390/math7111111.

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Determining vertex subsets are known tools to provide information about automorphism groups of graphs and, consequently about symmetries of graphs. In this paper, we provide both lower and upper bounds of the minimum size of such vertex subsets, called the determining number of the graph. These bounds, which are performed for arbitrary graphs, allow us to compute the determining number in two different graph families such are cographs and unit interval graphs.

29

Viglietto, G., P. Bruni, I. Capasso, M. T. Vento, E. Squame, M. D'Aiuto, S. Buonagura, et al. "P927. Analysis of BRCA-1 mutations in families from Southern Italy." Breast 6, no. 5 (October 1997): 337. http://dx.doi.org/10.1016/s0960-9776(97)90096-5.

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30

Kauff, N., T. Cigler, K. Hurley, H. Huang, H. Rapaport, E. Wadsworth, M. Robson, L. Norton, R. Barakat, and K. Offit. "Incidence of ovarian cancer in BRCA-negative hereditary breast cancer families." Journal of Clinical Oncology 22, no. 14_suppl (July 15, 2004): 9534. http://dx.doi.org/10.1200/jco.2004.22.14_suppl.9534.

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31

Carr, Ian M., Christine P. Diggle, Nader Touqan, Rashida Anwar, Eamonn G. Sheridan, David T. Bonthron, Colin A. Johnson, Manir Ali, and Alexander F. Markham. "Identification of autosomal recessive disease loci using out-bred nuclear families." Human Mutation 33, no. 2 (November 28, 2011): 338–42. http://dx.doi.org/10.1002/humu.21645.

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32

Kauff, N., T. Cigler, K. Hurley, H. Huang, H. Rapaport, E. Wadsworth, M. Robson, L. Norton, R. Barakat, and K. Offit. "Incidence of ovarian cancer in BRCA-negative hereditary breast cancer families." Journal of Clinical Oncology 22, no. 14_suppl (July 15, 2004): 9534. http://dx.doi.org/10.1200/jco.2004.22.90140.9534.

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33

Marcos, Rebeca, Ruy Alberto Caetano Corrêa Filho, Janessa Sampaio de Abreu, Guilherme Do Nascimento Seraphim, Ana Carla Carvalho Silva, Darci Carlos Fornari, Ricardo Pereira Ribeiro, Luana Barbosa Pires, Thiago Xavier Martins, and Jayme Aparecido Povh. "Growth Curve of Selectively Bred Tambaqui (Colossoma macropomum) Reared in Different Environments." Journal of Agricultural Studies 8, no. 3 (April 29, 2020): 585. http://dx.doi.org/10.5296/jas.v8i3.16379.

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The objective of this study was to obtain the growth curve of selectively bred tambaqui (Colossoma macropomum) reared in different environments. The experiment was carried out in the municipalities of Santo Antônio de Leverger (Mato Grosso – MT) and Campo Grande (Mato Grosso do Sul – MS), Brazil, over 431 days. Weight and morphometric traits of two families (A and B) from the second generation of selective breeding (G2) were measured every 30-45 days. The Gompertz regression model was used to obtain the growth curves. The production performance of both families and the interaction between families and locations (genotype × environment) were evaluated by analysis of variance considering the family (A and B), location (MT and MS), family × location interaction and error as variation factors. The asymptotic value (parameter A) obtained for weight and morphometric traits (except head length) was higher (P<0.05) in MT (weight of families A and B: 2279.6 g) than in MS (weight of family A: 1400.0 g; weight of family B: 1600.0 g). Family B showed better production performance in MS. There was a genotype × environment interaction effect on weight, body length and standard length. The two families have distinct growth patterns in different production environments. Family B has better growth performance in the environment with lower temperatures (MS).

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Sekine, Masayuki, Koji Nishino, and Takayuki Enomoto. "Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location." Genes 12, no. 7 (July 8, 2021): 1050. http://dx.doi.org/10.3390/genes12071050.

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Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA mutation identified is growing rapidly. Therefore, it is expected that analysis of the risk of developing cancer will be possible in a large number of BRCA mutant carriers, and there is a possibility that personal and precision medicine for the carriers with specific common founder mutations will be realized. In this review, we investigated the association of ovarian cancer risk and BRCA mutation location, and differences of other BRCA-related cancer risks by BRCA1/2 mutation, and furthermore, we discussed the difference in the prevalence of germline BRCA mutation in ovarian cancer patients. As a result, although there are various discussions, there appear to be differences in ovarian cancer risk by population and BRCA mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each BRCA mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline BRCA mutations.

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Kim, Jong-Shik, and David E. Crowley. "Microbial Diversity in Natural Asphalts of the Rancho La Brea Tar Pits." Applied and Environmental Microbiology 73, no. 14 (April 6, 2007): 4579–91. http://dx.doi.org/10.1128/aem.01372-06.

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ABSTRACT Bacteria commonly inhabit subsurface oil reservoirs, but almost nothing is known yet about microorganisms that live in naturally occurring terrestrial oil seeps and natural asphalts that are comprised of highly recalcitrant petroleum hydrocarbons. Here we report the first survey of microbial diversity in ca. 28,000-year-old samples of natural asphalts from the Rancho La Brea Tar Pits in Los Angeles, CA. Microbiological studies included analyses of 16S rRNA gene sequences and DNA encoding aromatic ring-hydroxylating dioxygenases from two tar pits differing in chemical composition. Our results revealed a wide range of phylogenetic groups within the Archaea and Bacteria domains, in which individual taxonomic clusters were comprised of sets of closely related species within novel genera and families. Fluorescent staining of asphalt-soil particles using phylogenetic probes for Archaea, Bacteria, and Pseudomonas showed coexistence of mixed microbial communities at high cell densities. Genes encoding dioxygenases included three novel clusters of enzymes. The discovery of life in the tar pits provides an avenue for further studies of the evolution of enzymes and catabolic pathways for bacteria that have been exposed to complex hydrocarbons for millennia. These bacteria also should have application for industrial microbiology and bioremediation.

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Deguy-Lepage, Françoise. "Les débuts de la presse enfantine au Québec : L’Oiseau bleu (1921-1940)." Documentation et bibliothèques 24, no. 1 (January 4, 2019): 25–31. http://dx.doi.org/10.7202/1055180ar.

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La Société Saint-Jean-Baptiste de Montréal publia, de 1921 à 1940, la première revue québécoise destinée à la jeunesse : L’Oiseau bleu. Un bref historique de la revue précède l’analyse de contenu proprement dite. Celle-ci apporte des précisions sur les idées pédagogiques alors en vigueur, ainsi que sur les conceptions que l’on avait de l’enfant et de la famille.

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Anderson, Gwen, Myunghee Jun, and Kyung Sook Choi. "Communication Patterns in Korean Families during BRCA Genetic Testing for Breast Cancer." Journal of Korean Oncology Nursing 11, no. 3 (2011): 200. http://dx.doi.org/10.5388/jkon.2011.11.3.200.

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Bendvold, Erik, Julie Skjaeraasen, Narve Moe, Dag Sjøberg, and Øystein Kravdal. "Marital break-up among couples raising families by artificial insemination by donor." Fertility and Sterility 51, no. 6 (June 1989): 980–83. http://dx.doi.org/10.1016/s0015-0282(16)60730-6.

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Bevers, T. B. "Early Detection of Breast and Ovarian Cancer in Families With BRCA Mutations." Breast Diseases: A Year Book Quarterly 17, no. 1 (April 2006): 34. http://dx.doi.org/10.1016/s1043-321x(06)80330-9.

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Pilarski, Robert. "The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families." American Society of Clinical Oncology Educational Book, no. 39 (May 2019): 79–86. http://dx.doi.org/10.1200/edbk_238977.

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Beyond breast and ovarian cancers, mutations in the BRCA1 and BRCA2 genes increase risks for pancreatic and prostate cancers and contribute to the prevalence of these cancers. Mutations in a number of other genes have also been shown to increase the risk for these cancers as well. Genetic testing is playing an increasingly important role in the treatment of patients with pancreatic and prostate cancer and is now recommended for all patients with pancreatic or metastatic prostate cancer, as well as patients with high Gleason grade prostate cancer and a remarkable family history. Identification of an inherited mutation can direct evaluation of the patient for other cancer risks as well as identification and management of disease in at-risk relatives. Growing evidence suggests improved responses to PARP inhibitors and other therapies in patients with mutations in the BRCA and other DNA repair genes. Although more work must be done to clarify the prevalence and penetrance of mutations in genes other than BRCA1 and BRCA2 in patients with pancreatic and prostate cancer, in most cases, testing is now being done with a panel of multiple genes. Because of the complexities in panel testing and the increased likelihood of finding variants of uncertain significance, pre- and post-test genetic counseling are essential.

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Dobričić, Jelena, Ana Krivokuća, Ksenija Brotto, Emina Mališić, Siniša Radulović, and Mirjana Branković-Magić. "Serbian high-risk families: extensive results on BRCA mutation spectra and frequency." Journal of Human Genetics 58, no. 8 (May 2, 2013): 501–7. http://dx.doi.org/10.1038/jhg.2013.30.

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Rodríguez, Marta, Asuncion Torres, Joan Borràs, Mònica Salvat, and Josep Gumà. "Large genomic rearrangements in mutation-negative BRCA families: a population-based study." Clinical Genetics 78, no. 4 (September 6, 2010): 405–7. http://dx.doi.org/10.1111/j.1399-0004.2010.01463.x.

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43

Kwiatkowski, Fabrice, Marie Arbre, Yannick Bidet, Claire Laquet, Nancy Uhrhammer, and Yves-Jean Bignon. "BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk." PLOS ONE 10, no. 6 (June 5, 2015): e0127363. http://dx.doi.org/10.1371/journal.pone.0127363.

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Weitzel, J. N. "Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families." Cancer Epidemiology Biomarkers & Prevention 14, no. 7 (July 1, 2005): 1666–71. http://dx.doi.org/10.1158/1055-9965.epi-05-0072.

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Sermijn, Erica, Liesbeth Delesie, Ellen Deschepper, Ingrid Pauwels, Maryse Bonduelle, Erik Teugels, and Jacques De Greve. "Impact of an interventional counseling procedure in BRCA families: Efficacy and safety." Journal of Clinical Oncology 32, no. 15_suppl (May 20, 2014): 1552. http://dx.doi.org/10.1200/jco.2014.32.15_suppl.1552.

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46

Vasen, H. F. A., E. Tesfay, H. Boonstra, M. J. E. Mourits, E. Rutgers, R. Verheyen, J. Oosterwijk, and L. Beex. "Early detection of breast and ovarian cancer in families with BRCA mutations." European Journal of Cancer 41, no. 4 (March 2005): 549–54. http://dx.doi.org/10.1016/j.ejca.2004.10.029.

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Chicos, Andrei, Lucian Negura, Rares Braescu, Aliona Morariu, Anca Negura, Andreea Chicos, and Cristian Lupascu. "High frequency of BRCA recurrent mutations in a consecutive series of unselected ovarian cancer patients." Revista Romana de Medicina de Laborator 28, no. 3 (July 1, 2020): 257–66. http://dx.doi.org/10.2478/rrlm-2020-0026.

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AbstractHereditary predisposition to breast and ovarian cancer (HBOC) is diagnosed by molecular analysis of deleterious mutations in BRCA genes, allowing oncogenetic follow-up of patients and of their families. BRCA testing addresses only to HBOC families, using restrictive inclusion criteria based on familial history of cancer and age at diagnosis. Sporadic ovarian cancer has high incidence and mortality in Romania, with low median age of diagnosis and possibly a higher magnitude of hereditary contribution comparing to othe populations. However, sporadic ovarian cancers do not qualify for BRCA testing according to inclusion criteria, and a complete BRCA screening of all cancers is neither feasible nor recommended. Despite the large diversity of BRCA mutations worldwide, some recurrent mutations have higher frequencies in diverse populations. Precisely screening for recurrent mutations in a target population allows to rapidly identifying mutation carriers without sequencing the entire BRCA genes. In Romanian population and neighboring countries, several recurrent mutations have already been described. In a consecutive series of 50 sporadic ovarian cancer patients, not qualifying for BRCA complete testing, we screened for 9 most common BRCA mutations, by multiplex-PCR, RFLP and targeted Sanger sequencing. Our results revealed 6 different BRCA mutations in 8 unrelated patients, with a frequency of 16%, much higher than expected. We further recommend screening for the identified mutations in larger series of cancer patients. The results are highly beneficial to cancer patients, healthy relatives, and overall, considering prevention in cancer a priority, to public health system and future of oncogenetics in Romania

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Sánchez-Lorenzo, Luisa, Diego Salas-Benito, Julia Villamayor, Ana Patiño-García, and Antonio González-Martín. "The BRCA Gene in Epithelial Ovarian Cancer." Cancers 14, no. 5 (February 27, 2022): 1235. http://dx.doi.org/10.3390/cancers14051235.

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Epithelial ovarian cancer (EOC) is still the most lethal gynecological cancer. Germline alterations in breast cancer 1 (gBRCA1) and breast cancer 2 (gBRCA2) genes have been identified in up to 18% of women diagnosed with EOC, and somatic mutations are found in an additional 7%. Testing of BRCA at the primary diagnosis of patients with EOC is recommended due to the implications in the genomic counseling of the patients and their families, as well as for the therapeutic implications. Indeed, the introduction of poly-(ADP ribose) polymerase inhibitors (PARPis) has changed the natural history of patients harboring a mutation in BRCA, and has resulted in a new era in the treatment of patients with ovarian cancer harboring a BRCA mutation.

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Liu, Yaxuan, Hafdis T. Helgadottir, Pedram Kharaziha, Jungmin Choi, Francesc López-Giráldez, Shrikant M. Mane, Veronica Höiom, Carl Christofer Juhlin, Catharina Larsson, and Svetlana Bajalica-Lagercrantz. "Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer." Biomedicines 10, no. 5 (April 26, 2022): 1004. http://dx.doi.org/10.3390/biomedicines10051004.

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Breast cancer is the most prevalent malignancy among women worldwide and hereditary breast cancer (HBC) accounts for about 5–10% of the cases. Today, the most recurrent genes known are BRCA1 and BRCA2, accounting for around 25% of familial cases. Although thousands of loss-of-function variants in more than twenty predisposing genes have been found, the majority of familial cases of HBC remain unexplained. The aim of this study was to identify new predisposing genes for HBC in three non-BRCA families with autosomal dominant inheritance pattern using whole-exome sequencing and functional prediction tools. No pathogenic variants in known hereditary cancer-related genes could explain the breast cancer susceptibility in these families. Among 2,122 exonic variants with maximum minor allele frequency (MMAF) < 0.1%, between 17–35 variants with combined annotation-dependent depletion (CADD) > 20 segregated with disease in the three analyzed families. Selected candidate genes, i.e., UBASH3A, MYH13, UTP11L, and PAX7, were further evaluated using protein expression analysis but no alterations of cancer-related pathways were observed. In conclusion, identification of new high-risk cancer genes using whole-exome sequencing has been more challenging than initially anticipated, in spite of selected families with pronounced family history of breast cancer. A combination of low- and intermediate-genetic-risk variants may instead contribute the breast cancer susceptibility in these families.

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Huo, D., R. T. Senie, M. B. Terry, M. B. Daly, S. S. Buys, and O. I. Olopade. "BRCA1 and BRCA2 mutation carrier predictions using the BRCAPRO model in clinic-based minority families enrolled in the Breast Cancer Family Registry (B-CFR)." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 21037. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.21037.

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21037 Background: BRCA mutation prediction models, such as BRCAPRO, are used in cancer risk clinics, but they were developed based on mutation rates and penetrance observed in individuals of Ashkenazi Jewish and European ancestry. Furthermore, in clinical counseling it is not always clear whether to test additional family members for BRCA mutations after the proband tests negative. The aim of this study is to evaluate the performance of the BRCAPRO model among clinic-based minority families and to evaluate the clinical utility of testing additional family members in high risk families. Methods: A total of 314 families with at least one member having been tested for BRCA mutations were enrolled through the B-CFR. Families of Ashkenazi Jewish ancestry were excluded. Using the BRCAPRO model with default penetrance and allele frequency for non-Ashkenazi Jewish populations, the predicted likelihood of carrying either a BRCA1 or BRCA2 mutations was generated. Sensitivity, specificity, and area under the receiver operating characteristic curves (AUC) were calculated. Results: There were 55 African American, 181 Hispanic, 42 Asian American and 36 other minority families. The AUC was 0.771 (95% confidence interval, CI: 0.720–0.816) for all minorities combined. At a predicted probability of 10%, the sensitivity for identifying mutation carriers was 65% and the specificity was 76%. The performance was marginally significantly better for Hispanic families than the other minority groups (p=0.07). In 228 families (73%), multiple individuals were tested for BRCA mutations. After taking into account the mutation status of family members, the performance of the BRCAPRO model was improved: the AUC increased to 0.862 (95% CI: 0.820–0.899) and the specificity at the 10% threshold increased to 83%, while the sensitivity remained the same. Conclusions: The data support the use of BRCAPRO in pretest prediction of BRCA1/2 mutations for minority families in high risk clinic settings. Mutation status of family members provides additional predictive value, which may help counselors decide whether to offer other family members the test when one member has already tested negative, given a positive family history of breast and ovarian cancer. No significant financial relationships to disclose.

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