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Article ; Online: Hereditary Cancer Genes and Related Risks.

Tomlinson-Hansen, Sandra / Beaston, Marcina

Rhode Island medical journal (2013)

2023 Volume 106, Issue 5, Page(s) 12–17

MeSH term(s)	Humans ; Genetic Predisposition to Disease ; Genetic Testing ; Neoplasms/genetics ; Risk
Language	English
Publishing date	2023-06-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	419430-5
ISSN	2327-2228 ; 0363-7913
ISSN (online)	2327-2228
ISSN	0363-7913
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 222: Show issues

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Article ; Online: Iatrogenic Full-Thickness Frostbite Injury Caused by the Use of a Conductive Cooling Device.

Muetterties, Corbin / Weiss, Eric / Tomlinson-Hansen, Sandra / Hughes, William

Journal of burn care & research : official publication of the American Burn Association

2017 Volume 39, Issue 5, Page(s) 843–845

Abstract: Reports of iatrogenic cold thermal injuries are rare in the literature. Conductive cooling devices, typically employed for their neuroprotective effects, use conductive hydrogel pads to achieve rapid and precise temperature control approaching the level ... ...

Abstract	Reports of iatrogenic cold thermal injuries are rare in the literature. Conductive cooling devices, typically employed for their neuroprotective effects, use conductive hydrogel pads to achieve rapid and precise temperature control approaching the level of water immersion. Despite a number of built-in safeguards, prolonged or improper use of these devices can lead to significant thermal injury. To the best of their knowledge, the authors describe the first report of a significant iatrogenic full-thickness injury caused by the use of a surface cooling system in a patient who had recently suffered a cerebrovascular accident. The patient required transfer to the authors' tertiary burn care facility for excisional debridement and coverage with extensive split-thickness skin grafting to the chest, flank, and thighs. The grafts achieved nearly complete take and the patient was ultimately discharged to a rehabilitation facility with improving neurological condition.
MeSH term(s)	Adult ; Debridement ; Frostbite/diagnosis ; Frostbite/etiology ; Frostbite/therapy ; Humans ; Hypothermia, Induced/adverse effects ; Hypothermia, Induced/instrumentation ; Iatrogenic Disease ; Male ; Skin Transplantation ; Stroke/therapy
Language	English
Publishing date	2017-09-01
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2224246-6
ISSN	1559-0488 ; 1559-047X
ISSN (online)	1559-0488
ISSN	1559-047X
DOI	10.1097/BCR.0000000000000623
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 6223: Show issues

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Article ; Online: Relationships Between 3 Classification Systems in Brachial Plexus Birth Palsy.

Greenhill, Dustin A / Lukavsky, Robert / Tomlinson-Hansen, Sandra / Kozin, Scott H / Zlotolow, Dan A

Journal of pediatric orthopedics

2017 Volume 37, Issue 6, Page(s) 374–380

Abstract: Background: The Mallet scale, Active Movement Scale (AMS), and Toronto Test are validated for use in children with brachial plexus birth palsy (BPBP). However, the inability to compare these evaluation systems has led to difficulty gauging treatment ... ...

Abstract	Background: The Mallet scale, Active Movement Scale (AMS), and Toronto Test are validated for use in children with brachial plexus birth palsy (BPBP). However, the inability to compare these evaluation systems has led to difficulty gauging treatment efficacy and interpreting available literature in which multiple scoring systems are reported. Given the critical importance of physical examination, we compared 3 scoring systems to clarify statistical relationships between current validated evaluation methods. Methods: The medical records of children with BPBP treated at a single institution over a 14-year period were retrospectively reviewed. Modified Mallet, AMS, and Toronto scores were recorded throughout the entire period. Data were included if at least 2 complete scoring systems were documented during the same examination session. Spearman correlation coefficients were calculated for all composite and subscore combinations. A concordance table was constructed for select variables found to be highly correlated. Results: Total single-session score combinations were as follows: 157 Mallet and AMS, 325 AMS and Toronto, and 143 Mallet and Toronto. Composite AMS and Toronto scores were found to have a strong correlation (r=0.928, P<0.001). A concordance table comparing these variables revealed that a Toronto score of 3.5 is concordant to an AMS score of 45. Modified Mallet scores had only a moderate correlation with composite AMS (r=0.512, P<0.001) and Toronto (r=0.458, P<0.001) scores. Specifically regarding the modified Mallet score, maneuvers requiring external rotation had stronger correlations with the composite modified Mallet score than maneuvers highlighting internal rotation. Conclusions: Modified Mallet scores do not correlate well with AMS or Toronto scores and should be utilized separately when managing children with BPBP. Similarly, AMS and Toronto scores are inadequate to guide clinical decisions for which the literature cites Mallet scores as outcome measures, and vice versa. Lastly, Mallet scores should incorporate an isolated internal rotation component to adequately assess midline function. Level of evidence: Diagnostic level III.
Language	English
Publishing date	2017-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	604642-3
ISSN	1539-2570 ; 0271-6798
ISSN (online)	1539-2570
ISSN	0271-6798
DOI	10.1097/BPO.0000000000000699
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 1681: Show issues

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Article ; Online: An analysis of combined and integrated plastic surgery residency websites.

Silvestre, Jason / Tomlinson-Hansen, Sandra / Fosnot, Joshua / Taylor, Jesse A

Plastic and reconstructive surgery

2014 Volume 134, Issue 4 Suppl 1, Page(s) 65

Language	English
Publishing date	2014-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	208012-6
ISSN	1529-4242 ; 0032-1052 ; 0096-8501
ISSN (online)	1529-4242
ISSN	0032-1052 ; 0096-8501
DOI	10.1097/01.prs.0000455410.42239.8d
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Uk I Zs.142: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 293: Show issues

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Article ; Online: Plastic surgery residency websites: a critical analysis of accessibility and content.

Silvestre, Jason / Tomlinson-Hansen, Sandra / Fosnot, Joshua / Taylor, Jesse A

Annals of plastic surgery

2014 Volume 72, Issue 3, Page(s) 265–269

Abstract: Background: Medical students applying for plastic surgery residency utilize the Internet to manage their residency applications. Applicants often apply to many programs and rely on advice from colleagues, mentors, and information gathered from plastic ... ...

Abstract	Background: Medical students applying for plastic surgery residency utilize the Internet to manage their residency applications. Applicants often apply to many programs and rely on advice from colleagues, mentors, and information gathered from plastic surgery residency websites (PSRWs). The purpose of the present study was to evaluate integrated and combined PSRWs with respect to accessibility, resident recruitment, and education. Methods: Websites from all 63 integrated and combined plastic surgery residencies available to graduating medical students during the 2013 academic year were available for study inclusion. Databases from national bodies for plastic surgery education were analyzed for accessibility of information. PSRWs were evaluated for comprehensiveness in the domains of resident education and recruitment. Residency programs were compared according to program characteristics using the Student t test and ANOVA with Tukey method. Results: Of the 63 residencies available to graduating medical students, only 57 had combined or integrated program information on their PSRWs (90.5%). In the domain of resident recruitment, evaluators found an average of 5.5 of 15 content items (36.7%). As a whole, 26.3% of PSRWs had academic conference schedules, 17.5% had call schedules, and only 8.8% had operative case listings. For resident education, PSRWs provided an average of 4.6 of 15 content items (30.7%). Only 31.6% of PSRWs had interview schedules, 24.6% had graduate fellowship information, and 5.3% had information on board exam performance. Upon comparison, programs in the Midwest had more online recruitment content than programs in the West (47.1% vs. 24.2%, P < 0.01). Additionally, programs with a larger class of incoming residents (2 vs. 1) had greater online recruitment content (40.0% vs. 26.7%, P < 0.05). Larger programs with 3 integrated spots had more online education content than smaller programs with only 1 integrated spot (40.0% vs. 19.4%, P < 0.01). Conclusion: PSRWs are often not readily accessible and do not provide basic information that allow residency applicants to use this recruitment tool effectively. The paucity of online content suggests PSRWs are underutilized as an educational and recruitment tool. These findings have implications for applicants and plastic surgery residency programs, and there may be future opportunity to utilize this tool more effectively.
MeSH term(s)	Attitude of Health Personnel ; Curriculum ; Databases, Factual ; Decision Making ; Humans ; Information Dissemination ; Internet ; Internship and Residency ; School Admission Criteria ; Surgery, Plastic/education ; United States
Language	English
Publishing date	2014-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	423835-7
ISSN	1536-3708 ; 0148-7043
ISSN (online)	1536-3708
ISSN	0148-7043
DOI	10.1097/SAP.0000000000000125
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 1419: Show issues

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Article ; Online: Economic Analysis of Cleft Palate Repair in International Adoptees.

Tomlinson-Hansen, Sandra / Paliga, J Thomas / Tahiri, Youssef / Paine, Kaitlyn M / Bartlett, Scott P / Taylor, Jesse A

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

2016 Volume 53, Issue 5, Page(s) 503–507

Abstract: Design: Retrospective cohort study.: Setting: Major international tertiary care referral center for cleft palate repair.: Patients: One hundred thirty-eight patients at the Children's Hospital of Philadelphia who had palate repair performed ... ...

Abstract	Design: Retrospective cohort study. Setting: Major international tertiary care referral center for cleft palate repair. Patients: One hundred thirty-eight patients at the Children's Hospital of Philadelphia who had palate repair performed between 2010 and 2013, excluding syndromic patients, patients undergoing palate revision, and patients with incomplete payment information. Interventions: None. Main outcome measure: Fees and charges for procedures. Results: Surgeon payment was significantly higher for international adoptees (Δ = $2047.51 [$128.35 to $3966.66], P = .038). Medicaid-adjusted surgeon payments averaged $1006 more for adoptees ([-$394.19 to $2406.98], P = .158). Conclusions: Hospital and anesthesiology costs for adoptee palate repair were highly variable but did not differ significantly from those for nonadoptees. Partly due to payer mix, surgeon reimbursement was somewhat higher for international adoptees. No difference in total payment was found.
Language	English
Publishing date	2016-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	1069409-2
ISSN	1545-1569 ; 0009-8701 ; 1055-6656
ISSN (online)	1545-1569
ISSN	0009-8701 ; 1055-6656
DOI	10.1597/14-227
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Zs.A 451: Show issues

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Article ; Online: Dietary practices in methylmalonic acidaemia: a European survey.

Pinto, Alex / Evans, Sharon / Daly, Anne / Almeida, Manuela Ferreira / Assoun, Murielle / Belanger-Quintana, Amaya / Bernabei, Silvia Maria / Bollhalder, Sandra / Cassiman, David / Champion, Helena / Chan, Heidi / Corthouts, Karen / Dalmau, Jaime / Boer, Foekje de / Laet, Corinne De / Meyer, An de / Desloovere, An / Dianin, Alice / Dixon, Marjorie /

Dokoupil, Katharina / Dubois, Sandrine / Eyskens, Francois / Faria, Ana / Fasan, Ilaria / Favre, Elisabeth / Feillet, François / Fekete, Anna / Gallo, Giorgia / Gingell, Cerys / Gribben, Joanna / Hansen, Kit Kaalund / Horst, Nienke Ter / Jankowski, Camille / Janssen-Regelink, Renske / Jones, Ilana / Jouault, Catherine / Kahrs, Gudrun Elise / Kok, Irene / Kowalik, Agnieszka / Laguerre, Catherine / Verge, Sandrine Le / Liguori, Alessandra / Lilje, Rina / Maddalon, Cornelia / Mayr, Doris / Meyer, Uta / Micciche, Avril / Och, Ulrike / Robert, Martine / Rocha, Júlio César / Rogozinski, Hazel / Rohde, Carmen / Ross, Kathleen / Saruggia, Isabelle / Schlune, Andrea / Singleton, Kath / Sjoqvist, Elisabeth / Skeath, Rachel / Stolen, Linn Helene / Terry, Allyson / Timmer, Corrie / Tomlinson, Lyndsey / Tooke, Alison / Kerckhove, Kristel Vande / van Dam, Esther / Hurk, Dorine van den / Ploeg, Liesbeth van der / van Driessche, Marleen / van Rijn, Margreet / Wegberg, Annemiek van / Vasconcelos, Carla / Vestergaard, Helle / Vitoria, Isidro / Webster, Diana / White, Fiona / White, Lucy / Zweers, Heidi / MacDonald, Anita

Journal of pediatric endocrinology & metabolism : JPEM

2019 Volume 33, Issue 1, Page(s) 147–155

Abstract: Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the ... ...

Abstract	Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.
MeSH term(s)	Adolescent ; Amino Acid Metabolism, Inborn Errors/diet therapy ; Amino Acid Metabolism, Inborn Errors/epidemiology ; Child ; Child, Preschool ; Cross-Sectional Studies ; Dietary Proteins/administration & dosage ; Europe/epidemiology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Nutritional Support ; Surveys and Questionnaires/standards
Chemical Substances	Dietary Proteins
Language	English
Publishing date	2019-12-16
Publishing country	Germany
Document type	Journal Article ; Multicenter Study
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2019-0277
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Zs.A 2258: Show issues

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Article ; Online: No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Hollestelle, Antoinette / van der Baan, Frederieke H / Berchuck, Andrew / Johnatty, Sharon E / Aben, Katja K / Agnarsson, Bjarni A / Aittomäki, Kristiina / Alducci, Elisa / Andrulis, Irene L / Anton-Culver, Hoda / Antonenkova, Natalia N / Antoniou, Antonis C / Apicella, Carmel / Arndt, Volker / Arnold, Norbert / Arun, Banu K / Arver, Brita / Ashworth, Alan / Baglietto, Laura /

Balleine, Rosemary / Bandera, Elisa V / Barrowdale, Daniel / Bean, Yukie T / Beckmann, Lars / Beckmann, Matthias W / Benitez, Javier / Berger, Andreas / Berger, Raanan / Beuselinck, Benoit / Bisogna, Maria / Bjorge, Line / Blomqvist, Carl / Bogdanova, Natalia V / Bojesen, Anders / Bojesen, Stig E / Bolla, Manjeet K / Bonanni, Bernardo / Brand, Judith S / Brauch, Hiltrud / Brenner, Hermann / Brinton, Louise / Brooks-Wilson, Angela / Bruinsma, Fiona / Brunet, Joan / Brüning, Thomas / Budzilowska, Agnieszka / Bunker, Clareann H / Burwinkel, Barbara / Butzow, Ralf / Buys, Saundra S / Caligo, Maria A / Campbell, Ian / Carter, Jonathan / Chang-Claude, Jenny / Chanock, Stephen J / Claes, Kathleen B M / Collée, J Margriet / Cook, Linda S / Couch, Fergus J / Cox, Angela / Cramer, Daniel / Cross, Simon S / Cunningham, Julie M / Cybulski, Cezary / Czene, Kamila / Damiola, Francesca / Dansonka-Mieszkowska, Agnieszka / Darabi, Hatef / de la Hoya, Miguel / deFazio, Anna / Dennis, Joseph / Devilee, Peter / Dicks, Ed M / Diez, Orland / Doherty, Jennifer A / Domchek, Susan M / Dorfling, Cecilia M / Dörk, Thilo / Silva, Isabel Dos Santos / du Bois, Andreas / Dumont, Martine / Dunning, Alison M / Duran, Mercedes / Easton, Douglas F / Eccles, Diana / Edwards, Robert P / Ehrencrona, Hans / Ejlertsen, Bent / Ekici, Arif B / Ellis, Steve D / Engel, Christoph / Eriksson, Mikael / Fasching, Peter A / Feliubadalo, Lidia / Figueroa, Jonine / Flesch-Janys, Dieter / Fletcher, Olivia / Fontaine, Annette / Fortuzzi, Stefano / Fostira, Florentia / Fridley, Brooke L / Friebel, Tara / Friedman, Eitan / Friel, Grace / Frost, Debra / Garber, Judy / García-Closas, Montserrat / Gayther, Simon A / Gentry-Maharaj, Aleksandra / Gerdes, Anne-Marie / Giles, Graham G / Glasspool, Rosalind / Glendon, Gord / Godwin, Andrew K / Goodman, Marc T / Gore, Martin / Greene, Mark H / Grip, Mervi / Gronwald, Jacek / Gschwantler Kaulich, Daphne / Guénel, Pascal / Guzman, Starr R / Haeberle, Lothar / Haiman, Christopher A / Hall, Per / Halverson, Sandra L / Hamann, Ute / Hansen, Thomas V O / Harter, Philipp / Hartikainen, Jaana M / Healey, Sue / Hein, Alexander / Heitz, Florian / Henderson, Brian E / Herzog, Josef / T Hildebrandt, Michelle A / Høgdall, Claus K / Høgdall, Estrid / Hogervorst, Frans B L / Hopper, John L / Humphreys, Keith / Huzarski, Tomasz / Imyanitov, Evgeny N / Isaacs, Claudine / Jakubowska, Anna / Janavicius, Ramunas / Jaworska, Katarzyna / Jensen, Allan / Jensen, Uffe Birk / Johnson, Nichola / Jukkola-Vuorinen, Arja / Kabisch, Maria / Karlan, Beth Y / Kataja, Vesa / Kauff, Noah / Kelemen, Linda E / Kerin, Michael J / Kiemeney, Lambertus A / Kjaer, Susanne K / Knight, Julia A / Knol-Bout, Jacoba P / Konstantopoulou, Irene / Kosma, Veli-Matti / Krakstad, Camilla / Kristensen, Vessela / Kuchenbaecker, Karoline B / Kupryjanczyk, Jolanta / Laitman, Yael / Lambrechts, Diether / Lambrechts, Sandrina / Larson, Melissa C / Lasa, Adriana / Laurent-Puig, Pierre / Lazaro, Conxi / Le, Nhu D / Le Marchand, Loic / Leminen, Arto / Lester, Jenny / Levine, Douglas A / Li, Jingmei / Liang, Dong / Lindblom, Annika / Lindor, Noralane / Lissowska, Jolanta / Long, Jirong / Lu, Karen H / Lubinski, Jan / Lundvall, Lene / Lurie, Galina / Mai, Phuong L / Mannermaa, Arto / Margolin, Sara / Mariette, Frederique / Marme, Frederik / Martens, John W M / Massuger, Leon F A G / Maugard, Christine / Mazoyer, Sylvie / McGuffog, Lesley / McGuire, Valerie / McLean, Catriona / McNeish, Iain / Meindl, Alfons / Menegaux, Florence / Menéndez, Primitiva / Menkiszak, Janusz / Menon, Usha / Mensenkamp, Arjen R / Miller, Nicola / Milne, Roger L / Modugno, Francesmary / Montagna, Marco / Moysich, Kirsten B / Müller, Heiko / Mulligan, Anna Marie / Muranen, Taru A / Narod, Steven A / Nathanson, Katherine L / Ness, Roberta B / Neuhausen, Susan L / Nevanlinna, Heli / Neven, Patrick / Nielsen, Finn C / Nielsen, Sune F / Nordestgaard, Børge G / Nussbaum, Robert L / Odunsi, Kunle / Offit, Kenneth / Olah, Edith / Olopade, Olufunmilayo I / Olson, Janet E / Olson, Sara H / Oosterwijk, Jan C / Orlow, Irene / Orr, Nick / Orsulic, Sandra / Osorio, Ana / Ottini, Laura / Paul, James / Pearce, Celeste L / Pedersen, Inge Sokilde / Peissel, Bernard / Pejovic, Tanja / Pelttari, Liisa M / Perkins, Jo / Permuth-Wey, Jenny / Peterlongo, Paolo / Peto, Julian / Phelan, Catherine M / Phillips, Kelly-Anne / Piedmonte, Marion / Pike, Malcolm C / Platte, Radka / Plisiecka-Halasa, Joanna / Poole, Elizabeth M / Poppe, Bruce / Pylkäs, Katri / Radice, Paolo / Ramus, Susan J / Rebbeck, Timothy R / Reed, Malcolm W R / Rennert, Gad / Risch, Harvey A / Robson, Mark / Rodriguez, Gustavo C / Romero, Atocha / Rossing, Mary Anne / Rothstein, Joseph H / Rudolph, Anja / Runnebaum, Ingo / Salani, Ritu / Salvesen, Helga B / Sawyer, Elinor J / Schildkraut, Joellen M / Schmidt, Marjanka K / Schmutzler, Rita K / Schneeweiss, Andreas / Schoemaker, Minouk J / Schrauder, Michael G / Schumacher, Fredrick / Schwaab, Ira / Scuvera, Giulietta / Sellers, Thomas A / Severi, Gianluca / Seynaeve, Caroline M / Shah, Mitul / Shrubsole, Martha / Siddiqui, Nadeem / Sieh, Weiva / Simard, Jacques / Singer, Christian F / Sinilnikova, Olga M / Smeets, Dominiek / Sohn, Christof / Soller, Maria / Song, Honglin / Soucy, Penny / Southey, Melissa C / Stegmaier, Christa / Stoppa-Lyonnet, Dominique / Sucheston, Lara / Swerdlow, Anthony / Tangen, Ingvild L / Tea, Muy-Kheng / Teixeira, Manuel R / Terry, Kathryn L / Terry, Mary Beth / Thomassen, Mads / Thompson, Pamela J / Tihomirova, Laima / Tischkowitz, Marc / Toland, Amanda Ewart / Tollenaar, Rob A E M / Tomlinson, Ian / Torres, Diana / Truong, Thérèse / Tsimiklis, Helen / Tung, Nadine / Tworoger, Shelley S / Tyrer, Jonathan P / Vachon, Celine M / Van 't Veer, Laura J / van Altena, Anne M / Van Asperen, C J / van den Berg, David / van den Ouweland, Ans M W / van Doorn, Helena C / Van Nieuwenhuysen, Els / van Rensburg, Elizabeth J / Vergote, Ignace / Verhoef, Senno / Vierkant, Robert A / Vijai, Joseph / Vitonis, Allison F / von Wachenfeldt, Anna / Walsh, Christine / Wang, Qin / Wang-Gohrke, Shan / Wappenschmidt, Barbara / Weischer, Maren / Weitzel, Jeffrey N / Weltens, Caroline / Wentzensen, Nicolas / Whittemore, Alice S / Wilkens, Lynne R / Winqvist, Robert / Wu, Anna H / Wu, Xifeng / Yang, Hannah P / Zaffaroni, Daniela / Pilar Zamora, M / Zheng, Wei / Ziogas, Argyrios / Chenevix-Trench, Georgia / Pharoah, Paul D P / Rookus, Matti A / Hooning, Maartje J / Goode, Ellen L

Gynecologic oncology

2015 Volume 141, Issue 2, Page(s) 386–401

Abstract: Objective: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival ... ...

Abstract	Objective: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods: Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results: We found no association with risk of ovarian cancer (OR=0.99, 95% CI 0.94-1.04, p=0.74) or breast cancer (OR=0.98, 95% CI 0.94-1.01, p=0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR=1.09, 95% CI 0.97-1.23, p=0.14, breast cancer HR=1.04, 95% CI 0.97-1.12, p=0.27; BRCA2, ovarian cancer HR=0.89, 95% CI 0.71-1.13, p=0.34, breast cancer HR=1.06, 95% CI 0.94-1.19, p=0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR=0.94, 95% CI 0.83-1.07, p=0.38), breast cancer (HR=0.96, 95% CI 0.87-1.06, p=0.38), and all other previously-reported associations. Conclusions: rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
MeSH term(s)	Breast Neoplasms/enzymology ; Breast Neoplasms/genetics ; Carcinoma, Ovarian Epithelial ; Female ; Humans ; Neoplasms, Glandular and Epithelial/enzymology ; Neoplasms, Glandular and Epithelial/genetics ; Ovarian Neoplasms/enzymology ; Ovarian Neoplasms/genetics ; Proto-Oncogene Proteins p21(ras)/genetics
Chemical Substances	KRAS protein, human ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
Language	English
Publishing date	2015-05-02
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	801461-9
ISSN	1095-6859 ; 0090-8258
ISSN (online)	1095-6859
ISSN	0090-8258
DOI	10.1016/j.ygyno.2015.04.034
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Article ; Online: A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Ding, Yuan C / McGuffog, Lesley / Healey, Sue / Friedman, Eitan / Laitman, Yael / Paluch-Shimon, Shani- / Kaufman, Bella / Liljegren, Annelie / Lindblom, Annika / Olsson, Håkan / Kristoffersson, Ulf / Stenmark-Askmalm, Marie / Melin, Beatrice / Domchek, Susan M / Nathanson, Katherine L / Rebbeck, Timothy R / Jakubowska, Anna / Lubinski, Jan / Jaworska, Katarzyna /

Durda, Katarzyna / Gronwald, Jacek / Huzarski, Tomasz / Cybulski, Cezary / Byrski, Tomasz / Osorio, Ana / Cajal, Teresa Ramóny / Stavropoulou, Alexandra V / Benítez, Javier / Hamann, Ute / Rookus, Matti / Aalfs, Cora M / de Lange, Judith L / Meijers-Heijboer, Hanne E J / Oosterwijk, Jan C / van Asperen, Christi J / Gómez García, Encarna B / Hoogerbrugge, Nicoline / Jager, Agnes / van der Luijt, Rob B / Easton, Douglas F / Peock, Susan / Frost, Debra / Ellis, Steve D / Platte, Radka / Fineberg, Elena / Evans, D Gareth / Lalloo, Fiona / Izatt, Louise / Eeles, Ros / Adlard, Julian / Davidson, Rosemarie / Eccles, Diana / Cole, Trevor / Cook, Jackie / Brewer, Carole / Tischkowitz, Marc / Godwin, Andrew K / Pathak, Harsh / Stoppa-Lyonnet, Dominique / Sinilnikova, Olga M / Mazoyer, Sylvie / Barjhoux, Laure / Léoné, Mélanie / Gauthier-Villars, Marion / Caux-Moncoutier, Virginie / de Pauw, Antoine / Hardouin, Agnès / Berthet, Pascaline / Dreyfus, Hélène / Ferrer, Sandra Fert / Collonge-Rame, Marie-Agnès / Sokolowska, Johanna / Buys, Saundra / Daly, Mary / Miron, Alex / Terry, Mary Beth / Chung, Wendy / John, Esther M / Southey, Melissa / Goldgar, David / Singer, Christian F / Tea, Muy-Kheng Maria / Gschwantler-Kaulich, Daphne / Fink-Retter, Anneliese / Hansen, Thomas V O / Ejlertsen, Bent / Johannsson, Oskar T / Offit, Kenneth / Sarrel, Kara / Gaudet, Mia M / Vijai, Joseph / Robson, Mark / Piedmonte, Marion R / Andrews, Lesley / Cohn, David / DeMars, Leslie R / DiSilvestro, Paul / Rodriguez, Gustavo / Toland, Amanda Ewart / Montagna, Marco / Agata, Simona / Imyanitov, Evgeny / Isaacs, Claudine / Janavicius, Ramunas / Lazaro, Conxi / Blanco, Ignacio / Ramus, Susan J / Sucheston, Lara / Karlan, Beth Y / Gross, Jenny / Ganz, Patricia A / Beattie, Mary S / Schmutzler, Rita K / Wappenschmidt, Barbara / Meindl, Alfons / Arnold, Norbert / Niederacher, Dieter / Preisler-Adams, Sabine / Gadzicki, Dorotehea / Varon-Mateeva, Raymonda / Deissler, Helmut / Gehrig, Andrea / Sutter, Christian / Kast, Karin / Nevanlinna, Heli / Aittomäki, Kristiina / Simard, Jacques / Spurdle, Amanda B / Beesley, Jonathan / Chen, Xiaoqing / Tomlinson, Gail E / Weitzel, Jeffrey / Garber, Judy E / Olopade, Olufunmilayo I / Rubinstein, Wendy S / Tung, Nadine / Blum, Joanne L / Narod, Steven A / Brummel, Sean / Gillen, Daniel L / Lindor, Noralane / Fredericksen, Zachary / Pankratz, Vernon S / Couch, Fergus J / Radice, Paolo / Peterlongo, Paolo / Greene, Mark H / Loud, Jennifer T / Mai, Phuong L / Andrulis, Irene L / Glendon, Gord / Ozcelik, Hilmi / Gerdes, Anne-Marie / Thomassen, Mads / Jensen, Uffe Birk / Skytte, Anne-Bine / Caligo, Maria A / Lee, Andrew / Chenevix-Trench, Georgia / Antoniou, Antonis C / Neuhausen, Susan L

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

2012 Volume 21, Issue 8, Page(s) 1362–1370

Abstract: Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 ... ...

Abstract	Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers. Results: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P(difference), 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03). Conclusion: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers. Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers.
MeSH term(s)	Breast Neoplasms/genetics ; Cohort Studies ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Genotype ; Humans ; Insulin Receptor Substrate Proteins/genetics ; Mutation ; Ovarian Neoplasms/genetics ; Polymorphism, Single Nucleotide
Chemical Substances	Insulin Receptor Substrate Proteins
Language	English
Publishing date	2012-06-22
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1153420-5
ISSN	1538-7755 ; 1055-9965
ISSN (online)	1538-7755
ISSN	1055-9965
DOI	10.1158/1055-9965.EPI-12-0229
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Bojesen, Stig E / Pooley, Karen A / Johnatty, Sharon E / Beesley, Jonathan / Michailidou, Kyriaki / Tyrer, Jonathan P / Edwards, Stacey L / Pickett, Hilda A / Shen, Howard C / Smart, Chanel E / Hillman, Kristine M / Mai, Phuong L / Lawrenson, Kate / Stutz, Michael D / Lu, Yi / Karevan, Rod / Woods, Nicholas / Johnston, Rebecca L / French, Juliet D /

Chen, Xiaoqing / Weischer, Maren / Nielsen, Sune F / Maranian, Melanie J / Ghoussaini, Maya / Ahmed, Shahana / Baynes, Caroline / Bolla, Manjeet K / Wang, Qin / Dennis, Joe / McGuffog, Lesley / Barrowdale, Daniel / Lee, Andrew / Healey, Sue / Lush, Michael / Tessier, Daniel C / Vincent, Daniel / Bacot, Françis / Vergote, Ignace / Lambrechts, Sandrina / Despierre, Evelyn / Risch, Harvey A / González-Neira, Anna / Rossing, Mary Anne / Pita, Guillermo / Doherty, Jennifer A / Alvarez, Nuria / Larson, Melissa C / Fridley, Brooke L / Schoof, Nils / Chang-Claude, Jenny / Cicek, Mine S / Peto, Julian / Kalli, Kimberly R / Broeks, Annegien / Armasu, Sebastian M / Schmidt, Marjanka K / Braaf, Linde M / Winterhoff, Boris / Nevanlinna, Heli / Konecny, Gottfried E / Lambrechts, Diether / Rogmann, Lisa / Guénel, Pascal / Teoman, Attila / Milne, Roger L / Garcia, Joaquin J / Cox, Angela / Shridhar, Vijayalakshmi / Burwinkel, Barbara / Marme, Frederik / Hein, Rebecca / Sawyer, Elinor J / Haiman, Christopher A / Wang-Gohrke, Shan / Andrulis, Irene L / Moysich, Kirsten B / Hopper, John L / Odunsi, Kunle / Lindblom, Annika / Giles, Graham G / Brenner, Hermann / Simard, Jacques / Lurie, Galina / Fasching, Peter A / Carney, Michael E / Radice, Paolo / Wilkens, Lynne R / Swerdlow, Anthony / Goodman, Marc T / Brauch, Hiltrud / Garcia-Closas, Montserrat / Hillemanns, Peter / Winqvist, Robert / Dürst, Matthias / Devilee, Peter / Runnebaum, Ingo / Jakubowska, Anna / Lubinski, Jan / Mannermaa, Arto / Butzow, Ralf / Bogdanova, Natalia V / Dörk, Thilo / Pelttari, Liisa M / Zheng, Wei / Leminen, Arto / Anton-Culver, Hoda / Bunker, Clareann H / Kristensen, Vessela / Ness, Roberta B / Muir, Kenneth / Edwards, Robert / Meindl, Alfons / Heitz, Florian / Matsuo, Keitaro / du Bois, Andreas / Wu, Anna H / Harter, Philipp / Teo, Soo-Hwang / Schwaab, Ira / Shu, Xiao-Ou / Blot, William / Hosono, Satoyo / Kang, Daehee / Nakanishi, Toru / Hartman, Mikael / Yatabe, Yasushi / Hamann, Ute / Karlan, Beth Y / Sangrajrang, Suleeporn / Kjaer, Susanne Krüger / Gaborieau, Valerie / Jensen, Allan / Eccles, Diana / Høgdall, Estrid / Shen, Chen-Yang / Brown, Judith / Woo, Yin Ling / Shah, Mitul / Azmi, Mat Adenan Noor / Luben, Robert / Omar, Siti Zawiah / Czene, Kamila / Vierkant, Robert A / Nordestgaard, Børge G / Flyger, Henrik / Vachon, Celine / Olson, Janet E / Wang, Xianshu / Levine, Douglas A / Rudolph, Anja / Weber, Rachel Palmieri / Flesch-Janys, Dieter / Iversen, Edwin / Nickels, Stefan / Schildkraut, Joellen M / Silva, Isabel Dos Santos / Cramer, Daniel W / Gibson, Lorna / Terry, Kathryn L / Fletcher, Olivia / Vitonis, Allison F / van der Schoot, C Ellen / Poole, Elizabeth M / Hogervorst, Frans B L / Tworoger, Shelley S / Liu, Jianjun / Bandera, Elisa V / Li, Jingmei / Olson, Sara H / Humphreys, Keith / Orlow, Irene / Blomqvist, Carl / Rodriguez-Rodriguez, Lorna / Aittomäki, Kristiina / Salvesen, Helga B / Muranen, Taru A / Wik, Elisabeth / Brouwers, Barbara / Krakstad, Camilla / Wauters, Els / Halle, Mari K / Wildiers, Hans / Kiemeney, Lambertus A / Mulot, Claire / Aben, Katja K / Laurent-Puig, Pierre / Altena, Anne Mvan / Truong, Thérèse / Massuger, Leon F A G / Benitez, Javier / Pejovic, Tanja / Perez, Jose Ignacio Arias / Hoatlin, Maureen / Zamora, M Pilar / Cook, Linda S / Balasubramanian, Sabapathy P / Kelemen, Linda E / Schneeweiss, Andreas / Le, Nhu D / Sohn, Christof / Brooks-Wilson, Angela / Tomlinson, Ian / Kerin, Michael J / Miller, Nicola / Cybulski, Cezary / Henderson, Brian E / Menkiszak, Janusz / Schumacher, Fredrick / Wentzensen, Nicolas / Le Marchand, Loic / Yang, Hannah P / Mulligan, Anna Marie / Glendon, Gord / Engelholm, Svend Aage / Knight, Julia A / Høgdall, Claus K / Apicella, Carmel / Gore, Martin / Tsimiklis, Helen / Song, Honglin / Southey, Melissa C / Jager, Agnes / den Ouweland, Ans M Wvan / Brown, Robert / Martens, John W M / Flanagan, James M / Kriege, Mieke / Paul, James / Margolin, Sara / Siddiqui, Nadeem / Severi, Gianluca / Whittemore, Alice S / Baglietto, Laura / McGuire, Valerie / Stegmaier, Christa / Sieh, Weiva / Müller, Heiko / Arndt, Volker / Labrèche, France / Gao, Yu-Tang / Goldberg, Mark S / Yang, Gong / Dumont, Martine / McLaughlin, John R / Hartmann, Arndt / Ekici, Arif B / Beckmann, Matthias W / Phelan, Catherine M / Lux, Michael P / Permuth-Wey, Jenny / Peissel, Bernard / Sellers, Thomas A / Ficarazzi, Filomena / Barile, Monica / Ziogas, Argyrios / Ashworth, Alan / Gentry-Maharaj, Aleksandra / Jones, Michael / Ramus, Susan J / Orr, Nick / Menon, Usha / Pearce, Celeste L / Brüning, Thomas / Pike, Malcolm C / Ko, Yon-Dschun / Lissowska, Jolanta / Figueroa, Jonine / Kupryjanczyk, Jolanta / Chanock, Stephen J / Dansonka-Mieszkowska, Agnieszka / Jukkola-Vuorinen, Arja / Rzepecka, Iwona K / Pylkäs, Katri / Bidzinski, Mariusz / Kauppila, Saila / Hollestelle, Antoinette / Seynaeve, Caroline / Tollenaar, Rob A E M / Durda, Katarzyna / Jaworska, Katarzyna / Hartikainen, Jaana M / Kosma, Veli-Matti / Kataja, Vesa / Antonenkova, Natalia N / Long, Jirong / Shrubsole, Martha / Deming-Halverson, Sandra / Lophatananon, Artitaya / Siriwanarangsan, Pornthep / Stewart-Brown, Sarah / Ditsch, Nina / Lichtner, Peter / Schmutzler, Rita K / Ito, Hidemi / Iwata, Hiroji / Tajima, Kazuo / Tseng, Chiu-Chen / Stram, Daniel O / van den Berg, David / Yip, Cheng Har / Ikram, M Kamran / Teh, Yew-Ching / Cai, Hui / Lu, Wei / Signorello, Lisa B / Cai, Qiuyin / Noh, Dong-Young / Yoo, Keun-Young / Miao, Hui / Iau, Philip Tsau-Choong / Teo, Yik Ying / McKay, James / Shapiro, Charles / Ademuyiwa, Foluso / Fountzilas, George / Hsiung, Chia-Ni / Yu, Jyh-Cherng / Hou, Ming-Feng / Healey, Catherine S / Luccarini, Craig / Peock, Susan / Stoppa-Lyonnet, Dominique / Peterlongo, Paolo / Rebbeck, Timothy R / Piedmonte, Marion / Singer, Christian F / Friedman, Eitan / Thomassen, Mads / Offit, Kenneth / Hansen, Thomas V O / Neuhausen, Susan L / Szabo, Csilla I / Blanco, Ignacio / Garber, Judy / Narod, Steven A / Weitzel, Jeffrey N / Montagna, Marco / Olah, Edith / Godwin, Andrew K / Yannoukakos, Drakoulis / Goldgar, David E / Caldes, Trinidad / Imyanitov, Evgeny N / Tihomirova, Laima / Arun, Banu K / Campbell, Ian / Mensenkamp, Arjen R / van Asperen, Christi J / van Roozendaal, Kees E P / Meijers-Heijboer, Hanne / Collée, J Margriet / Oosterwijk, Jan C / Hooning, Maartje J / Rookus, Matti A / van der Luijt, Rob B / Os, Theo A Mvan / Evans, D Gareth / Frost, Debra / Fineberg, Elena / Barwell, Julian / Walker, Lisa / Kennedy, M John / Platte, Radka / Davidson, Rosemarie / Ellis, Steve D / Cole, Trevor / Bressac-de Paillerets, Brigitte / Buecher, Bruno / Damiola, Francesca / Faivre, Laurence / Frenay, Marc / Sinilnikova, Olga M / Caron, Olivier / Giraud, Sophie / Mazoyer, Sylvie / Bonadona, Valérie / Caux-Moncoutier, Virginie / Toloczko-Grabarek, Aleksandra / Gronwald, Jacek / Byrski, Tomasz / Spurdle, Amanda B / Bonanni, Bernardo / Zaffaroni, Daniela / Giannini, Giuseppe / Bernard, Loris / Dolcetti, Riccardo / Manoukian, Siranoush / Arnold, Norbert / Engel, Christoph / Deissler, Helmut / Rhiem, Kerstin / Niederacher, Dieter / Plendl, Hansjoerg / Sutter, Christian / Wappenschmidt, Barbara / Borg, Ake / Melin, Beatrice / Rantala, Johanna / Soller, Maria / Nathanson, Katherine L / Domchek, Susan M / Rodriguez, Gustavo C / Salani, Ritu / Kaulich, Daphne Gschwantler / Tea, Muy-Kheng / Paluch, Shani Shimon / Laitman, Yael / Skytte, Anne-Bine / Kruse, Torben A / Jensen, Uffe Birk / Robson, Mark / Gerdes, Anne-Marie / Ejlertsen, Bent / Foretova, Lenka / Savage, Sharon A / Lester, Jenny / Soucy, Penny / Kuchenbaecker, Karoline B / Olswold, Curtis / Cunningham, Julie M / Slager, Susan / Pankratz, Vernon S / Dicks, Ed / Lakhani, Sunil R / Couch, Fergus J / Hall, Per / Monteiro, Alvaro N A / Gayther, Simon A / Pharoah, Paul D P / Reddel, Roger R / Goode, Ellen L / Greene, Mark H / Easton, Douglas F / Berchuck, Andrew / Antoniou, Antonis C / Chenevix-Trench, Georgia / Dunning, Alison M

Nature genetics

2013 Volume 45, Issue 4, Page(s) 371–84, 384e1–2

Abstract: TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 ... ...

Abstract	TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. The minor allele at the peak 2 SNP rs7705526 associates with longer telomeres (P = 2.3 × 10(-14)), higher risk of low-malignant-potential ovarian cancer (P = 1.3 × 10(-15)) and greater promoter activity. The minor alleles at the peak 3 SNPs rs10069690 and rs2242652 increase ER-negative (P = 1.2 × 10(-12)) and BRCA1 mutation carrier (P = 1.6 × 10(-14)) breast and invasive ovarian (P = 1.3 × 10(-11)) cancer risks but not via altered telomere length. The cancer risk alleles of rs2242652 and rs10069690, respectively, increase silencing and generate a truncated TERT splice variant.
MeSH term(s)	Alternative Splicing ; Biomarkers, Tumor/genetics ; Breast Neoplasms/etiology ; Breast Neoplasms/pathology ; Case-Control Studies ; Chromatin/genetics ; DNA Methylation ; Female ; Gene Expression Profiling ; Genetic Loci/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Luciferases/metabolism ; Oligonucleotide Array Sequence Analysis ; Ovarian Neoplasms/etiology ; Ovarian Neoplasms/pathology ; Polymorphism, Single Nucleotide/genetics ; RNA, Messenger/genetics ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Risk Factors ; Telomerase/genetics ; Telomere/genetics
Chemical Substances	Biomarkers, Tumor ; Chromatin ; RNA, Messenger ; Luciferases (EC 1.13.12.-) ; TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
Language	English
Publishing date	2013-03-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.2566
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