Person: Song, Yun
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Publication CNS Metastasis Patterns in BRCA1/2 Mutation Associated and Non-BRCA Associated Breast Cancers
(2015-06-08) Song, YunBRCA1 and BRCA2 germline mutations give rise to phenotypically distinct breast cancers (BC): triple negative (TNBC) and hormone positive, respectively. Different BC subtypes are associated with different patterns of metastasis, including propensity for central nervous system (CNS) metastasis. Purpose of this study is to compare BC recurrence patterns and CNS metastasis rate by BRCA mutation status.
This retrospective study included 332 women with confirmed BRCA mutation (30 BRCA1, 32 BRCA2, 270 negative) and diagnosed with locally recurrent or metastatic BC. BRCA1 carriers often metastasized to lung (50%) and lymph nodes (50%). BRCA2 carriers and noncarriers frequently metastasized to bone (75% and 53%, respectively). CNS disease was more common in mutation carriers (53% BRCA1, 50% BRCA2, 25% noncarriers, p<0.001). Controlling for BC subtype, BRCA1 carriers had more leptomeningeal (41% versus 4%, p<0.001), but not brain parenchymal (55% versus 35%, p=0.19), disease than noncarriers. BRCA2 carriers had higher rates of both parenchymal (35% versus 8%, p=0.001) and leptomeningeal (26% versus 9%, p=0.02) disease. In multivariable regression analysis, BRCA2 (OR 3.36, p=0.008), but not BRCA1 (OR 1.97, p=0.28), mutation was significantly associated with CNS metastasis. BRCA1/2 carriers often develop CNS disease, but only BRCA2 mutation is an independent predictor of CNS metastasis.
Publication The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
(Springer Nature, 2016) Mallick, Swapan; Li, Heng; Lipson, Mark; Mathieson, Iain; Gymrek, Melissa Ann; Racimo, Fernando; Zhao, Mengyao; Chennagiri, Niru; Nordenfelt, Susanne; Tandon, Arti; Skoglund, Pontus R; Lazaridis, Iosif; Sankararaman, Sriram; Fu, Qiaomei; Rohland-Pinello, Nadin; Renaud, Gabriel; Erlich, Yaniv; Willems, Thomas; Gallo, Carla; Spence, Jeffrey P.; Song, Yun; Poletti, Giovanni; Balloux, Francois; van Driem, George; de Knijff, Peter; Romero, Irene Gallego; Jha, Aashish R.; Behar, Doron M.; Bravi, Claudio M.; Capelli, Cristian; Hervig, Tor; Moreno-Estrada, Andres; Posukh, Olga L.; Balanovska, Elena; Balanovsky, Oleg; Karachanak-Yankova, Sena; Sahakyan, Hovhannes; Toncheva, Draga; Yepiskoposyan, Levon; Tyler-Smith, Chris; Xue, Yali; Abdullah, M. Syafiq; Ruiz-Linares, Andres; Beall, Cynthia M.; Di Rienzo, Anna; Jeong, Choongwon; Starikovskaya, Elena B.; Metspalu, Ene; Parik, Jüri; Villems, Richard; Henn, Brenna M.; Hodoglugil, Ugur; Mahley, Robert; Sajantila, Antti; Stamatoyannopoulos, George; Wee, Joseph T. S.; Khusainova, Rita; Khusnutdinova, Elza; Litvinov, Sergey; Ayodo, George; Comas, David; Hammer, Michael F.; Kivisild, Toomas; Klitz, William; Winkler, Cheryl A.; Labuda, Damian; Bamshad, Michael; Jorde, Lynn B.; Tishkoff, Sarah A.; Watkins, W. Scott; Metspalu, Mait; Dryomov, Stanislav; Sukernik, Rem; Singh, Lalji; Thangaraj, Kumarasamy; Pääbo, Svante; Kelso, Janet; Patterson, Nick; Reich, DavidWe report the Simons Genome Diversity Project (SGDP) dataset: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioral modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that in other non-Africans.