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An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Overview of attention for article published in Breast Cancer Research, April 2015
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  • Good Attention Score compared to outputs of the same age (65th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (52nd percentile)

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Citations

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Title
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Published in
Breast Cancer Research, April 2015
DOI 10.1186/s13058-015-0567-2
Pubmed ID
Authors

Sophie Blein, Claire Bardel, Vincent Danjean, Lesley McGuffog, Sue Healey, Daniel Barrowdale, Andrew Lee, Joe Dennis, Karoline B Kuchenbaecker, Penny Soucy, Mary Beth Terry, Wendy K Chung, David E Goldgar, Saundra S Buys, Breast Cancer Family Registry, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Susan L Neuhausen, Yuan Chun Ding, Anne-Marie Gerdes, Bent Ejlertsen, Finn C Nielsen, Thomas VO Hansen, Ana Osorio, Javier Benitez, Raquel Andrés Conejero, Ena Segota, Jeffrey N Weitzel, Margo Thelander, Paolo Peterlongo, Paolo Radice, Valeria Pensotti, Riccardo Dolcetti, Bernardo Bonanni, Bernard Peissel, Daniela Zaffaroni, Giulietta Scuvera, Siranoush Manoukian, Liliana Varesco, Gabriele L Capone, Laura Papi, Laura Ottini, Drakoulis Yannoukakos, Irene Konstantopoulou, Judy Garber, Ute Hamann, Alan Donaldson, Angela Brady, Carole Brewer, Claire Foo, D Gareth Evans, Debra Frost, Diana Eccles, EMBRACE, Fiona Douglas, Jackie Cook, Julian Adlard, Julian Barwell, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Radka Platte, Ros Eeles, Rosemarie Davidson, Shirley Hodgson, Trevor Cole, Andrew K Godwin, Claudine Isaacs, Kathleen Claes, Kim De Leeneer, Alfons Meindl, Andrea Gehrig, Barbara Wappenschmidt, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Hansjoerg Plendl, Karin Kast, Kerstin Rhiem, Nina Ditsch, Norbert Arnold, Raymonda Varon-Mateeva, Rita K Schmutzler, Sabine Preisler-Adams, Nadja Bogdanova Markov, Shan Wang-Gohrke, Antoine de Pauw, Cédrick Lefol, Christine Lasset, Dominique Leroux, Etienne Rouleau, Francesca Damiola, GEMO Study Collaborators, Hélène Dreyfus, Laure Barjhoux, Lisa Golmard, Nancy Uhrhammer, Valérie Bonadona, Valérie Sornin, Yves-Jean Bignon, Jonathan Carter, Linda Van Le, Marion Piedmonte, Paul A DiSilvestro, Miguel de la Hoya, Trinidad Caldes, Heli Nevanlinna, Kristiina Aittomäki, Agnes Jager, Ans MW van den Ouweland, Carolien M Kets, Cora M Aalfs, Flora E van Leeuwen, Frans BL Hogervorst, Hanne EJ Meijers-Heijboer, HEBON, Jan C Oosterwijk, Kees EP van Roozendaal, Matti A Rookus, Peter Devilee, Rob B van der Luijt, Edith Olah, Orland Diez, Alex Teulé, Conxi Lazaro, Ignacio Blanco, Jesús Del Valle, Anna Jakubowska, Grzegorz Sukiennicki, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Bjarni A Agnarsson, Christine Maugard, Alberto Amadori, Marco Montagna, Manuel R Teixeira, Amanda B Spurdle, William Foulkes, Curtis Olswold, Noralane M Lindor, Vernon S Pankratz, Csilla I Szabo, Anne Lincoln, Lauren Jacobs, Marina Corines, Mark Robson, Joseph Vijai, Andreas Berger, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Geschwantler Kaulich, Georg Pfeiler, Muy-Kheng Tea, Mark H Greene, Phuong L Mai, Gad Rennert, Evgeny N Imyanitov, Anna Marie Mulligan, Gord Glendon, Irene L Andrulis, Sandrine Tchatchou, Amanda Ewart Toland, Inge Sokilde Pedersen, Mads Thomassen, Torben A Kruse, Uffe Birk Jensen, Maria A Caligo, Eitan Friedman, Jamal Zidan, Yael Laitman, Annika Lindblom, Beatrice Melin, Brita Arver, Niklas Loman, Richard Rosenquist, Olufunmilayo I Olopade, Robert L Nussbaum, Susan J Ramus, Katherine L Nathanson, Susan M Domchek, Timothy R Rebbeck, Banu K Arun, Gillian Mitchell, Beth Y Karlan, Jenny Lester, Sandra Orsulic, Dominique Stoppa-Lyonnet, Gilles Thomas, Jacques Simard, Fergus J Couch, Kenneth Offit, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Sylvie Mazoyer, Catherine M Phelan, Olga M Sinilnikova, David G Cox

Abstract

Individuals carrying pathogenic mutations in BRCA1/2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals from different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. Here we test the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22214 (11421 affected, 10793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched for affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers than the rest of clade T, (Hazard Ratio (HR) = 0.55 (95% Confidence Interval (CI) 0.34-0.88, p-value = 0.01). Compared with the most frequent haplogroup in the general population i.e. H and T clade, the T1a1 haplogroup has an HR = 0.62 (95% CI = 0.40-0.95, p-value = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches like the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 150 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Finland 1 <1%
Russia 1 <1%
Unknown 148 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 19 13%
Researcher 17 11%
Student > Master 12 8%
Professor > Associate Professor 10 7%
Professor 10 7%
Other 41 27%
Unknown 41 27%
Readers by discipline Count As %
Medicine and Dentistry 33 22%
Biochemistry, Genetics and Molecular Biology 27 18%
Agricultural and Biological Sciences 12 8%
Nursing and Health Professions 6 4%
Computer Science 3 2%
Other 18 12%
Unknown 51 34%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 17 July 2019.
All research outputs
#8,483,362
of 25,394,764 outputs
Outputs from Breast Cancer Research
#968
of 2,054 outputs
Outputs of similar age
#96,909
of 279,898 outputs
Outputs of similar age from Breast Cancer Research
#21
of 44 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 2,054 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.2. This one has gotten more attention than average, scoring higher than 52% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 279,898 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 52% of its contemporaries.