{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Blein S"],"funding":["Cancer Research UK","Dutch Research Council (NWO)","National Institute for Health Research (NIHR)","NCI NIH HHS"],"pagination":["61"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4478717"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17"],"pubmed_abstract":["<h4>Introduction</h4>Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 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 with 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. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.<"],"journal":["Breast cancer research : BCR"],"pubmed_title":["An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers."],"pmcid":["PMC4478717"],"funding_grant_id":["U01 CA161032","U01 CA116167","P30 CA008748","R01 CA083855","R01 CA142996","184.021.007","R01 CA128978","R01 CA116167","U01 CA113916","U10 CA027469","15007","U10 CA101165","UM1 CA164920","17528","U10 CA037517","P50 CA125183","N02 CP065504","16563","11174","R01 CA176785","R01 CA140323","NF-SI-0510-10096","P50 CA116201","R01 CA102776","P30 CA168524","UG1 CA189867","P30 CA016672","RC4 CA153828","U24 CA196067","U10 CA180868","N02 CP011019"],"pubmed_authors":["Ejlertsen B","Pankratz VS","Nathanson KL","Frost D","Sukiennicki G","Tischkowitz M","Melin B","Douglas F","McGuffog L","Kets CM","Leroux D","Easton DF","Brewer C","Berger A","Walker L","Nielsen FC","Mai PL","Olopade OI","Orsulic S","Sinilnikova OM","Lester J","Tung N","Schmutzler RK","Greene MH","Pfeiler G","Healey S","Zidan J","Vijai J","Claes K","Karlan BY","Kruse TA","Jaworska-Bieniek K","Szabo CI","Dolcetti R","Caligo MA","Barrowdale D","Phelan CM","Peterlongo P","Barwell J","Hogervorst FB","Preisler-Adams S","Spurdle AB","Lindblom A","van den Ouweland AM","Manoukian S","Rennert G","Kuchenbaecker KB","Aalfs CM","Gehrig A","Dorfling CM","Toland AE","Antoniou AC","Offit K","Jager A","Carter J","Scuvera G","Evans DG","Lincoln A","Singer CF","Porteous ME","Bonadona V","Corines M","Simard J","Chenevix-Trench G","Golmard L","van Leeuwen FE","van Rensburg EJ","Rappaport C","Laitman Y","Lefol C","Sutter C","Soucy P","Eccles D","Nevanlinna H","Blein S","Loman N","Kennedy MJ","Izatt L","Glendon G","van der Luijt RB","Rosenquist R","Arnold N","Rogers MT","Radice P","Yannoukakos D","Janavicius R","Thelander M","Bardel C","Tea MK","Godwin AK","Blanco I","Arun BK","Olswold C","Osorio A","Olah E","Dennis J","Conejero RA","Gerdes AM","Wappenschmidt B","De Leeneer K","Jakubowska A","Stoppa-Lyonnet D","Van Le L","de la Hoya M","Arver B","Hansen TV","Rhiem K","Amadori A","Lubinski J","Robson M","Goldgar DE","Tihomirova L","Cox DG","Terry MB","Nussbaum RL","Gronwald J","Zaffaroni D","GEMO Study Collaborators","Domchek SM","Adlard J","Peissel B","Cook J","de Pauw A","Neuhausen SL","Side LE","Foo C","Fink-Retter A","Thomas G","Kast K","Lazaro C","Jacobs L","Sornin V","Chung WK","EMBRACE","Benitez J","Lee A","Engel C","Bonanni B","Cole T","Agnarsson BA","Rebbeck TR","Niederacher D","Maugard C","Rookus MA","Lindor NM","Wang-Gohrke S","Kaulich DG","Weitzel JN","Konstantopoulou I","Barjhoux L","Del Valle J","Montagna M","Buys SS","Morrison PJ","Imyanitov EN","Papi L","Mitchell G","van Roozendaal KE","Bignon YJ","Danjean V","Eeles R","Ditsch N","Andrulis IL","Hodgson S","Capone GL","Teixeira MR","Garber J","Durda K","Brady A","Thomassen M","Jensen UB","Lasset C","HEBON","Markov NB","Couch FJ","Aittomaki K","Dreyfus H","Breast Cancer Family Registry","Oosterwijk JC","Davidson R","Mulligan AM","Platte R","Varon-Mateeva R","Piedmonte M","Meijers-Heijboer HE","Steinemann D","Friedman E","Mazoyer S","Uhrhammer N","Varesco L","Segota E","Donaldson A","Pedersen IS","Rouleau E","Pensotti V","Diez O","DiSilvestro PA","Isaacs C","Teule A","Devilee P","Ramus SJ","Ottini L","Ding YC","Plendl H","Foulkes W","Tchatchou S","Damiola F","Hamann U","Meindl A","Caldes T"],"additional_accession":[]},"is_claimable":false,"name":"An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.","description":"<h4>Introduction</h4>Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 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 with 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. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.<","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Apr","modification":"2026-06-14T07:53:12.697Z","creation":"2019-03-27T01:53:58Z"},"accession":"S-EPMC4478717","cross_references":{"pubmed":["25925750"],"doi":["10.1186/s13058-015-0567-2"]}}