References examining phenotypic effects of specific genes or gene mutations
List was last updated on
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- Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
- Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
- J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.
- PMID: 36775657
- PubMed abstract
- Source abstract
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- A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
- Radulovic I, Schündeln MM, Müller L, Ptok J, Honisch E, Niederacher D, Wiek C, Scheckenbach K, Leblanc T, Larcher L, Soulier J, Reinhardt D, Schaal H, Andreassen PR, Hanenberg H.
- Hum Mol Genet. 2023 Jan 31:ddad017. doi: 10.1093/hmg/ddad017. Epub ahead of print.
- PMID: 36721989
- PubMed abstract
- Source abstract
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- Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
- Hovland HN, Kabanyana Mchaina E, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.
- Genes (Basel). 2023 Jan 19;14(2):262. doi: 10.3390/genes14020262.
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- Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
- Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ.
- J Clin Oncol. 2023 Jan 9:JCO2201239. doi: 10.1200/JCO.22.01239. Epub ahead of print.
- PMID: 36623243
- PubMed abstract
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- The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women.
- Larionov A, Fewings E, Redman J, Goldgraben M, Clark G, Boice J, Concannon P, Bernstein J, Conti DV, the WECARE Study Collaborative Group, Tischkowitz M.
- Cancers (Basel). 2023 Jan 8;15(2):415. doi: 10.3390/cancers15020415.
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- Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
- Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
- Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.
- PMID: 36581488
- PubMed abstract
- Source abstract
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- Effectiveness of Secondary Risk-Reducing Strategies in Patients With Unilateral Breast Cancer With Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery: Evidence-Based Simulation Study.
- Maksimenko J, Rodrigues PP, Nakazawa-Miklaševiča M, Pinto D, Miklaševičs E, Trofimovičs G, Gardovskis J, Cardoso F, Cardoso MJ.
- JMIR Form Res. 2022 Dec 29;6(12):e37144. doi: 10.2196/37144.
- PMID: 36580360
- PubMed abstract
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- Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
- Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
- Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.
- PMID: 36630951
- PubMed abstract
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- Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images.
- Lazard T, Bataillon G, Naylor P, Popova T, Bidard FC, Stoppa-Lyonnet D, Stern MH, Decencière E, Walter T, Vincent-Salomon A..
- Cell Rep Med. 2022 Dec 20;3(12):100872. doi: 10.1016/j.xcrm.2022.100872. Epub 2022 Dec 13.
- PMID: 36516847
- PubMed abstract
•• Commentary:
HRD-related morphology discovery in breast cancer by controlling for confounding factors.
- PMID: 36543118
- PubMed abstract
- Source abstract
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- BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
- Sun J, Chu F, Pan J, Zhang Y, Yao L, Chen J, Hu L, Zhang J, Xu Y, Wang X, Cao W, Xie Y.
- J Clin Oncol. 2022 Dec 8:JCO2200833. doi: 10.1200/JCO.22.00833. Epub ahead of print.
- PMID: 36480783
- PubMed abstract
- Source abstract
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- Hereditary breast cancer: syndromes, tumour pathology and molecular testing.
- Sokolova A, Johnstone KJ, McCart Reed AE, Simpson PT, Lakhani SR.
- Histopathology. 2022 Dec 5. doi: 10.1111/his.14808. Epub ahead of print.
- PMID: 36468211
- PubMed abstract
- Source abstract
- Review
- Free Full Text
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- Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
- Buckley KH, Niccum BA, Maxwell KN, Katona BW.
- Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.
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- Clinical Application of Poly(ADP-ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
- Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
- Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.
- PMID: 36497408
- PubMed abstract
- Review
- Free PMC article
- Free Full Text
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- In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.
- Barua SA, Goswami N, Mishra N, Sawant UU, Varma AK.
- ACS Omega. 2022 Nov 28;7(49):44772-44785. doi: 10.1021/acsomega.2c04782.
- PMID: 36530327
- PubMed abstract
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- Association of location of BRCA1 and BRCA2 mutations with benefit from olaparib and bevacizumab maintenance in high-grade ovarian cancer: phase III PAOLA-1/ENGOT-ov25 trial subgroup exploratory analysis.
- Labidi-Galy SI, Rodrigues M, Sandoval JL, Kurtz JE, Heitz F, Mosconi AM, Romero I, Denison U, Nagao S, Vergote I, Parma G, Nøttrup TJ, Rouleau E, Garnier G, El-Balat A, Zamagni C, Martín-Lorente C, Pujade-Lauraine E, Fiévet A, Ray-Coquard IL.
- Ann Oncol. 2022 Nov 28:S0923-7534(22)04733-0. doi: 10.1016/j.annonc.2022.11.003. Epub ahead of print.
- PMID: 36564284
- PubMed abstract
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- Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
- Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
- Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
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- In silico and structure-based assessment to classify VUS identified in the a-helical domain of BRCA2.
- Khan MA, Varma AK.
- J Biomol Struct Dyn. 2022 Nov 20:1-11. doi: 10.1080/07391102.2022.2148127. Epub ahead of print.
- PMID: 36404616
- PubMed abstract
- Source abstract
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- Avelumab Plus Talazoparib in Patients With Advanced Solid Tumors: The JAVELIN PARP Medley Nonrandomized Controlled Trial.
- Yap TA, Bardia A, Dvorkin M, Galsky MD, Beck JT, Wise DR, Karyakin O, Rubovszky G, Kislov N, Rohrberg K, Joy AA, Telli ML, Schram AM, Conte U, Chappey C, Stewart R, Stypinski D, Michelon E, Cesari R, Konstantinopoulos PA.
- JAMA Oncol. 2022 Nov 17. doi: 10.1001/jamaoncol.2022.5228. Epub ahead of print.
- PMID: 36394849
- PubMed abstract
•• Identifier: NCT03330405: Javelin Parp Medley: Avelumab Plus Talazoparib In Locally Advanced Or Metastatic Solid Tumors. (ClinicalTrials.gov . Accessed 2022 Nov 19.)
•• Commentary:
Combining PARP Inhibitor With Immunotherapy-Does the Promise of Preclinical Data Translate to Clinic?
- PMID: 36394835
- PubMed abstract
- Source abstract
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- Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
- Corso G, Girardi A, Calvello M, Gandini S, Gaeta A, Marabelli M, Magnoni F, Veronesi P, Guerrieri-Gonzaga A, Bonanni B.
- Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
- PMID: 36331686
- PubMed abstract
- Source abstract
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- Partial Reduction in BRCA1 Gene Dose Modulates DNA Replication Stress Level and Thereby Contributes to Sensitivity or Resistance.
- Classen S, Rahlf E, Jungwirth J, Albers N, Hebestreit LP, Zielinski A, Poole L, Groth M, Koch P, Liehr T, Kankel S, Cordes N, Petersen C, Rothkamm K, Pospiech H, Borgmann K.
- Int J Mol Sci. 2022 Nov 1;23(21):13363. doi: 10.3390/ijms232113363.
- PMID: 36362151
- PubMed abstract
- Source abstract
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- Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
- Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
- Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
- PMID: 36094610
- PubMed abstract
- Source abstract
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- Germline mutations in 5' to c.7914 of BRCA2 significantly increase risk of prostate cancer.
- Ruan XH, Huang D, Lin XL, Fang ZJ, Ding Q, Wu YS, Na R.
- Asian J Androl. 2022 Oct 28. doi: 10.4103/aja202277. Epub ahead of print.
- PMID: 36308075
- PubMed abstract
- Source abstract
- Letter
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- Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
- Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z, Lessel D.
- Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.
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- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
- Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
- Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
- PMID: 36203093
- PubMed abstract
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- Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
- Terashima T, Morizane C, Ushiama M, Shiba S, Takahashi H, Ikeda M, Mizuno N, Tsuji K, Yasui K, Azemoto N, Satake H, Nomura S, Yachida S, Sugano K, Furuse J.
- Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
- PMID: 36135357
- PubMed abstract
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- Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.
- Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group, Vos JR.
- J Natl Cancer Inst. 2022 Sep 28:djac188. doi: 10.1093/jnci/djac188. Epub ahead of print.
- PMID: 36171661
- PubMed abstract
- Source abstract
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- Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
- Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ.
- JAMA Oncol. 2022 Sep 22. doi: 10.1001/jamaoncol.2022.4071. Epub ahead of print.
- PMID: 36136322
- PubMed abstract
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- Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
- D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
- Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
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- Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
- Prakash R, Rawal Y, Sullivan MR, Grundy MK, Bret H, Mihalevic MJ, Rein HL, Baird JM, Darrah K, Zhang F, Wang R, Traina TA, Radke MR, Kaufmann SH, Swisher EM, Guérois R, Modesti M, Sung P, Jasin M, Bernstein KA.
- Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
- PMID: 36099300
- PubMed abstract
- Source abstract
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- Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
- Hamid AB, Frank LE, Bouley RA, Petreaca RC.
- PLoS One. 2022 Sep 15;17(9):e0273736. doi: 10.1371/journal.pone.0273736.
- PMID: 36107942
- PubMed abstract
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- BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair.
- Jimenez-Sainz J, Mathew J, Moore G, Lahiri S, Garbarino J, Eder JP, Rothenberg E, Jensen RB.
- Elife. 2022 Sep 13;11:e79183. doi: 10.7554/eLife.79183.
- PMID: 36098506
- PubMed abstract
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- Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
- Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, Sugano K, Yoshida T, Matsuda K, Murakami Y, Maeda Y, Nakagawa H, Momozawa Y.
- Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
- PMID: 36065483
- PubMed abstract
- Source abstract
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- Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?
- Puthanmadhom Narayanan S, Najjar YG.
- JAMA Oncol. 2022 Sep 1. doi: 10.1001/jamaoncol.2022.3776. Epub ahead of print.
- PMID: 36048458
- PubMed abstract
- Source abstract
Reply, Letter:
Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.
- PMID: 36048450
- PubMed abstract
- Source abstract
Original research:
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
- PMID: 35446370
- PubMed abstract
- Source abstract
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- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
- Bueno-Martínez E, Sanoguera-Miralles L, Valenzuela-Palomo A, Esteban-Sánchez A, Lorca V, Llinares-Burguet I, Allen J, García-Álvarez A, Pérez-Segura P, Durán M, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.
- J Pathol. 2022 Sep;258(1):83-101. doi: 10.1002/path.5979. Epub 2022 Jul 15.
- PMID: 35716007
- PubMed abstract
- Source abstract
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- Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
- Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Machácková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, Consortium E, Vreeswijk MPG, de la Hoya M, Spurdle AB.
- Hum Mutat. 2022 Aug 18. doi: 10.1002/humu.24449. Epub ahead of print.
- PMID: 35979650
- PubMed abstract
- Source abstract
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- BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
- Boussios S, Rassy E, Moschetta M, Ghose A, Adeleke S, Sanchez E, Sheriff M, Chargari C, Pavlidis N.
- Cancers (Basel). 2022 Aug 11;14(16):3888. doi: 10.3390/cancers14163888.
- PMID: 36010882
- PubMed abstract
- Source abstract
- Review
- Free PMC article
- Free Full Text
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- Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
- Brewer T, Yehia L, Bazeley P, Eng C.
- Am J Hum Genet. 2022 Aug 4;109(8):1520-1533. doi: 10.1016/j.ajhg.2022.07.005.
- PMID: 35931053
- PubMed abstract
- Source abstract
Research news: PTEN Mutation Syndrome Leads to Breast Cancers With Distinct Molecular Alterations. (GenomeWeb)
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- Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis.
- Tomasello G, Gambini D, Petrelli F, Azzollini J, Arcanà C, Ghidini M, Peissel B, Manoukian S, Garrone O.
- ESMO Open. 2022 Aug;7(4):100531. doi: 10.1016/j.esmoop.2022.100531. Epub 2022 Jul 8.
- PMID: 35810556
- PubMed abstract
- Review
- Free PMC article
- Free Full Text
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- A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
- Qorri E, Takács B, Gráf A, Enyedi MZ, Pintér L, Kiss E, Haracska L.
- Int J Mol Sci. 2022 Jul 19;23(14):7946. doi: 10.3390/ijms23147946.
- PMID: 35887294
- PubMed abstract
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- Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2.
- Wu S, Qi L, Chen H, Zhang K, He J, Guo X, Shen L, Zhou Y, Zhong X, Zheng S, Zhou J, Chen Y.
- NPJ Breast Cancer. 2022 Jul 19;8(1):86. doi: 10.1038/s41523-022-00454-6.
- PMID: 35853885
- PubMed abstract
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- Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
- Alexander W.
- Medscape Oncology. 2022 Jul 12.
- Research news
- Free Full Text
Original research:
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
- PMID: 35420638
- PubMed abstract
- Free Full Text
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- Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria.
- James PA, Fortuno C, Li N, Lim BWX, Campbell IG, Spurdle AB.
- Hum Mutat. 2022 Jul;43(7):882-888. doi: 10.1002/humu.24357. Epub 2022 Mar 3.
- PMID: 35191126
- PubMed abstract
- Source abstract
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- Differences in age at diagnosis of ovarian cancer for each BRCA mutation type in Japan: optimal timing to carry out risk-reducing salpingo-oophorectomy.
- Sekine M, Enomoto T, Arai M, Den H, Nomura H, Ikeuchi T, Nakamura S; Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer.
- J Gynecol Oncol. 2022 Jul;33(4):e46. doi: 10.3802/jgo.2022.33.e46. Epub 2022 Mar 31.
- PMID: 35557031
- PubMed abstract
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- Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
- Gerber VKQ, Paraizo MM, Ibañez HC, Casali-da-Rocha JC, Pinto EM, Andrade DP, Ibañez MVC, Komechen H, Figueiredo MMO, Custódio G, Fiori CMCM, Balbinotti JHG, Nardin JM, Almeida TA, Beltrame OO, Yamada PA, de Fraga GS, de Brito LL, Martins J, Melanda VS, Licht OAB, Teixeira VZ, Pinho SKS, Bottini S, Lalli E, Zambetti GP, Figueiredo BC.
- Cancers (Basel). 2022 Jun 19;14(12):3014. doi: 10.3390/cancers14123014.
- PMID: 35740679
- PubMed abstract
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- The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
- Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
- Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
- PMID: 34570441
- PubMed abstract
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- Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
- Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA.
- Cancers (Basel). 2022 Jun 15;14(12):2960. doi: 10.3390/cancers14122960.
- PMID: 35740625
- PubMed abstract
- Source abstract
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- Dynamic interaction of BRCA2 with telomeric G-quadruplexes underlies telomere replication homeostasis.
- Lee J, Sung K, Joo SY, Jeong JH, Kim SK, Lee H.
- Nat Commun. 2022 Jun 13;13(1):3396. doi: 10.1038/s41467-022-31156-z.
- PMID: 35697743
- PubMed abstract
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- Case report: Response to platinum agents and poly (adenosine diphosphate-ribose) polymerase inhibitor in a patient with BRCA1 c.5096G>A (R1699Q) intermediate-risk variant.
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- Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
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- Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
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- The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.
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- Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
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- Association between BRCA2 alterations and intraductal and cribriform histologies in prostate cancer.
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- Survival from breast cancer in women with a BRCA2 mutation by treatment.
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- Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
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- Identification of Germline Genetic Variants that Increase Prostate Cancer Risk and Influence Development of Aggressive Disease.
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- Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants.
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- Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.
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- Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
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- N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.
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Which Genes for Hereditary Breast Cancer?
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The ten genes for breast (and ovarian) cancer susceptibility.
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The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
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- A Population-Based Study of Genes Previously Implicated in Breast Cancer.
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Which Genes for Hereditary Breast Cancer?
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The ten genes for breast (and ovarian) cancer susceptibility.
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The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
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- Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
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- Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers.
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- K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.
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- BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
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- Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150.
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- Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
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- Germline BRCA1/2 mutations and severe haematological toxicities in patients with breast cancer treated with neoadjuvant chemotherapy.
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- The BRCA2 p.N372 H i.a.1342A>C Could Regulate the Sensitivity of Ovarian Cancer Cells to Platinum-Based Drugs.
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- BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.
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- Germline TP53 Testing in Breast Cancers: Why, When and How?
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- Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer.
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- Five Italian Families with Two Mutations in BRCA Genes.
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- BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers.
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- Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
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- Pan-cancer landscape of homologous recombination deficiency.
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- Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
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- Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.
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- The established risk of prostate cancer comorbidity in BRCA1/2 mutation carriers: where is the clinically relevant hotspot for prostate cancer?
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- Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
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- Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
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- JCO Precis Oncol. 2020 Aug 19;4:PO.19.00301. doi: 10.1200/PO.19.00301.
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- Clinical BRCA1/2 reversion analysis identifies hotspot mutations and predicted neoantigens associated with therapy resistance.
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- Cancer Discov. 2020 Jul 22:CD-19-1485. doi: 10.1158/2159-8290.CD-19-1485. Epub ahead of print.
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- Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
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- Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.
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- Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome.
- Mitamura T, Sekine M, Arai M, Shibata Y, Kato M, Yokoyama S, Yamashita H, Watari H, Yabe I, Nomura H, Enomoto T, Nakamura S; Registration Committee of the Japanese HBOC Consortium.
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- Histopathologic features of breast cancer in Li-Fraumeni syndrome.
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- Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
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- Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
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- Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
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- Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
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Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness.
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- Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
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- Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.
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- A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
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Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
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- Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
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- Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
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- Germline BRCA2 K3326X and CHEK2 I157T Mutations Increase Risk for Sporadic Pancreatic Ductal Adenocarcinoma.
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Letter, Reply:
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Original research:
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- Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
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- Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
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- Association Between BRCA Status and Triple-Negative Breast Cancer: A Meta-Analysis.
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- BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
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- A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
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- Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
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- Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
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- The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
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- "Lazarus Response" to Olaparib in a Virtually Chemonaive Breast Cancer Patient Carrying Gross BRCA2 Gene Deletion.
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- Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
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Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.
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Research news:
Genetics: BRCA-mutant breast/ovarian cancer revealed.
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- The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
- Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ.
- NPJ Breast Cancer. 2017 Jun 9;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.
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- BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
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- Cancer Res. 2017 Jun 1;77(11):2789-2799. doi: 10.1158/0008-5472.CAN-16-2568. Epub 2017 Mar 10.
- PMID: 28283652
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- A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability.
- Tan SLW, Chadha S, Liu Y, Gabasova E, Perera D, Ahmed K, Constantinou S, Renaudin X, Lee M, Aebersold R, Venkitaraman AR.
- Cell. 2017 Jun 1;169(6):1105-1118.e15. doi: 10.1016/j.cell.2017.05.010.
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Preview, Research news:
Aldehydes Pose a Threat to BRCA2 Mutation Carriers.
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Research news:
Aldehydes Promote BRCA2 Haploinsufficiency and Genomic Instability.
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Research report, Commentary:
Thwarting endogenous stress: BRCA protects against aldehyde toxicity.
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- Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
- Ryu JM, Kang G, Nam SJ, Kim SW, Yu J, Lee SK, Bae SY, Park S, Paik HJ, Kim JW, Park SS, Lee JE, Kim SW.
- Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.
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- Fanconi anemia: correlating central nervous system malformations and genetic complementation groups.
- Johnson-Tesch BA, Gawande RS, Zhang L, MacMillan ML, Nascene DR.
- Pediatr Radiol. 2017 Jun;47(7):868-876. doi: 10.1007/s00247-017-3817-x. Epub 2017 Mar 10.
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- Current perspectives on CHEK2 mutations in breast cancer.
- Apostolou P, Papasotiriou I.
- Breast Cancer (Dove Med Press). 2017 May 12;9:331-335. doi: 10.2147/BCTT.S111394. eCollection 2017.
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- Distinct implications of different BRCA mutations: efficacy of cytotoxic chemotherapy, PARP inhibition and clinical outcome in ovarian cancer.
- Hollis RL, Churchman M, Gourley C.
- Onco Targets Ther. 2017 May 11;10:2539-2551. doi: 10.2147/OTT.S102569. eCollection 2017.
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- Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea.
- Kim DH, Chae H, Jo I, Yoo J, Lee H, Jang W, Park J, Lee GD, Jeon DS, Lee KH, Hur SY, Chae BJ, Song BJ, Kim M, Kim Y.
- BMC Med Genet. 2017 Mar 28;18(1):38. doi: 10.1186/s12881-017-0398-3.
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- Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor Olaparib by a dominant negative effect.
- Vaclová T, Woods NT, Megías D, Gomez-Lopez S, Setién F, García Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Monteiro AN, Benítez J, Osorio A.
- Hum Mol Genet. 2016 Dec 15;25(24):5287-5299. doi: 10.1093/hmg/ddw343.
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- FOXC1 identifies basal-like breast cancer in a hereditary breast cancer cohort.
- Johnson J, Choi M, Dadmanesh F, Han B, Qu Y, Yu-Rice Y, Zhang X, Bagaria S, Taylor C, Giuliano AE, Amersi F, Cui X.
- Oncotarget. 2016 Nov 15;7(46):75729-75738. doi: 10.18632/oncotarget.12370.
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- Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.
- Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P, Fagerholm R, Greco D, Aittomäki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hart SN, Figueroa J, García-Closas M, Fasching PA, Beckmann MW, Li J, Liu J, Andrulis IL, Winqvist R, Pylkäs K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PD, Schmidt MK, Nevanlinna H.
- Breast Cancer Res. 2016 Oct 3;18(1):98. doi: 10.1186/s13058-016-0758-5.
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- RING-less BRCA1 Induces PARP Inhibitor and Platinum Resistance.
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- Cancer Discov. 2016 Oct;6(10):OF6. Epub 2016 Aug 12.
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- Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
- Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB; GEMO Study Collaborators, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S; EMBRACE, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN; KConFab Investigators; Australian Ovarian Cancer Study Group, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA.
- Nat Commun. 2016 Sep 7;7:12675. doi: 10.1038/ncomms12675.
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- Germline mutations of BRCA1 gene exon 11 are not associated with platinum response neither with survival advantage in patients with primary ovarian cancer: understanding the clinical importance of one of the biggest human exons. A study of the Tumor Bank Ovarian Cancer (TOC) Consortium.
- Dimitrova D, Ruscito I, Olek S, Richter , Hellwag A, Türbachova I, Woopen H, Baron U, Braicu EI, Sehouli J.
- Tumour Biol. 2016 Sep;37(9):12329-12337. doi: 10.1007/s13277-016-5109-8. Epub 2016 Jun 14.
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- High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
- Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
- BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
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- Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.
- Chehade R, Pettapiece-Phillips R, Salmena L, Kotlyar M, Jurisica I, Narod SA, Akbari MR, Kotsopoulos J.
- Breast Cancer Res. 2016 Aug 17;18(1):87. doi: 10.1186/s13058-016-0739-8.
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- Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.
- Hartford SA, Chittela R, Ding X, Vyas A, Martin B, Burkett S, Haines DC, Southon E, Tessarollo L, Sharan SK.
- PLoS Genet. 2016 Aug 4;12(8):e1006236. doi: 10.1371/journal.pgen.1006236. eCollection 2016.
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- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.
- Mehrgou A, Akouchekian M.
- Med J Islam Repub Iran. 2016 May 15;30:369. eCollection 2016.
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- Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.
- Vasanthakumar A, Arnovitz S, Marquez R, Lepore J, Rafidi G, Asom A, Weatherly M, Davis EM, Neistadt B, Duszynski R, Vardiman JW, Le Beau MM, Godley LA, Churpek JE.
- Blood. 2016 Jan 21;127(3):310-3. doi: 10.1182/blood-2015-03-635599. Epub 2015 Dec 7.
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- Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients.
- Synowiec A, Wcisło G, Bodnar L, Górski B, Szenajch J, Szarlej-Wcisło K, Szczylik C.
- Hered Cancer Clin Pract. 2016 Jan 8;14:1. doi: 10.1186/s13053-015-0044-z. eCollection 2016.
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- Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.
- Zhang X, Wang T, Wang W, Ding Y, Zhou L, Chen Q, Gao X, Wu Y, Mei Y, Jin Y, Gao Q, Yi L.
- Gene. 2015 Dec 1;573(2):333-7. doi: 10.1016/j.gene.2015.08.069. Epub 2015 Sep 4.
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- Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
- Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M.
- Iran J Public Health. 2015 Oct;44(10):1348-1352.
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- Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk.
- Teixeira N, Mourits MJ, Vos JR, Kolk DM, Jansen L, Oosterwijk JC, Bock GH.
- Maturitas. 2015 Oct;82(2):197-202. doi: 10.1016/j.maturitas.2015.07.001. Epub 2015 Jul 9.
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- DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
- Vaclová T, Gómez-López G, Setién F, Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Benítez J, Osorio A.
- Breast Cancer Res Treat. 2015 Jul;152(2):271-82. doi: 10.1007/s10549-015-3459-3. Epub 2015 Jun 14.
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- Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.
- Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH.
- Cancer Res Treat. 2015 Jul;47(3):534-8. doi: 10.4143/crt.2013.151. Epub 2014 Oct 17.
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- Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
- James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
- Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
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- Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers.
- Bayraktar S, Jackson M, Gutierrez-Barrera AM, Liu D, Meric-Bernstam F, Brandt A, Woodson A, Litton J, Lu KH, Valero V, Arun BK.
- Breast J. 2015 May-Jun;21(3):260-7. doi: 10.1111/tbj.12392. Epub 2015 Mar 19.
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- A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer.
- Delahaye-Sourdeix M, Anantharaman D, Timofeeva MN, Gaborieau V, Chabrier A, Vallée MP, Lagiou P, Holcátová I, Richiardi L, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Thakker NS, Conway DI, Znaor A, Healy CM, Ahrens W, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Fabianova E, Mates IN, Bencko V, Foretova L, Janout V, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Eluf-Neto J, Boffetta P, Fernández Garrote L, Polesel J, Lener M, Jaworowska E, Lubiński J, Boccia S, Rajkumar T, Samant TA, Mahimkar MB, Matsuo K, Franceschi S, Byrnes G, Brennan P, McKay JD.
- J Natl Cancer Inst. 2015 Apr 2;107(5). pii: djv037. doi: 10.1093/jnci/djv037. Print 2015 May.
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Comment / Editorial
BRCA2-Branching Out Too?
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News
BRCA2 variant aerodigestive cancer risk.
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- Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.
- Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; and the CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen TV, Ramón Y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Zlowocka-Perlowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.
- JAMA. 2015 Apr 7;313(13):1347-1361. doi: 10.1001/jama.2014.5985.
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News
BRCA1 and BRCA2 mutation type associated with cancer risk.
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Research Highlight
Genetics: Breast and ovarian cancer risk varies by BRCA mutation type.
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Press: For cancer risk, some BRCA mutations are more dangerous than others (L.A. Times)
Blog post: Do All BRCA Mutations Come with the Same Cancer Risk? (Dana-Farber Insight)
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- Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers.
- Lecarpentier J, Noguès C, Mouret-Fourme E, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Bonadona V, Fricker JP, Berthet P, Caron O, Coupier I, Pujol P, Faivre L, Gesta P, Eisinger F, Mari V, Gladieff L, Lortholary A, Luporsi E, Leroux D, Venat-Bouvet L, Maugard CM, Colas C, Tinat J, Lasset C, Andrieu N; GENEPSO.
- Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):698-707. Epub 2015 Jan 22.
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- Genotype/Phenotype correlations in patients with hereditary breast cancer.
- Wittersheim M, Büttner R, Markiefka B.
- Breast Care (Basel). 2015 Feb;10(1):22-6. doi: 10.1159/000380900.
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- The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population.
- Wang K, Xu L, Pan L, Xu K, Li G.
- Tumour Biol. 2015 Jan;36(1):393-7. doi: 10.1007/s13277-014-2655-9. Epub 2014 Sep 30.
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- FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
- Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.
- Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.
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- Invasion patterns of metastatic high-grade serous carcinoma of ovary or fallopian tube associated with BRCA deficiency.
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- Mod Pathol. 2014 Oct;27(10):1405-11. doi: 10.1038/modpathol.2013.237. Epub 2014 Feb 28.
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- Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
- Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.
- Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.
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Comments on NSGC Discussion Forum Cancer SIG
Subject: Population screening for BRCA1/2
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- Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer.
- Bell K, Hodgson N, Levine M, Sadikovic B, Zbuk K.
- Breast Cancer Res Treat. 2014 Jul;146(2):447-50. doi: 10.1007/s10549-014-3011-x. Epub 2014 Jun 12.
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- A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
- Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
- Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
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- Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
- Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
- Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.
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Comments on NSGC Discussion Forum Cancer SIG
Subject: BRCA and CHEK2
Subject: Dbl heterzygote article
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- Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors.
- Pedroni M, Di Gregorio C, Cortesi L, Reggiani Bonetti L, Magnani G, Simone ML, Medici V, Priore Oliva C, Marino M, Ponz de Leon M.
- Tech Coloproctol. 2014 Mar;18(3):285-9. doi: 10.1007/s10151-013-1030-y. Epub 2013 May 22.
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- Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
- Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
- J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
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- Review
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- A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer.
- Delon I, Taylor A, Molenda A, Drummond J, Oakhill K, Girling A, Liu H, Whittaker J, Treacy R, Tischkowitz M.
- Clin Genet. 2013 Sep;84(3):297-9. doi: 10.1111/cge.12057. Epub 2012 Dec 6.
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- Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.
- Chakraborty A, Mukhopadhyay A, Bhattacharyya D, Bose CK, Choudhuri K, Mukhopadhyay S, Basak J.
- Fam Cancer. 2013 Sep;12(3):489-95. doi: 10.1007/s10689-012-9590-y.
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- Association between BRCA Mutation Status, Pathological Findings, and Magnetic Resonance Imaging Features in Patients with Breast Cancer at Risk for the Mutation.
- Noh JM, Han BK, Choi DH, Rhee SJ, Cho EY, Huh SJ, Park W, Park H, Nam SJ, Lee JE, Kil WH.
- J Breast Cancer. 2013 Sep;16(3):308-14. doi: 10.4048/jbc.2013.16.3.308. Epub 2013 Sep 30.
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- Outcome of BRCA1- compared with BRCA2-associated ovarian cancer: a nationwide study in the Netherlands.
- Vencken PM, Reitsma W, Kriege M, Mourits MJ, de Bock GH, de Hullu JA, van Altena AM, Gaarenstroom KN, Vasen HF, Adank MA, Schmidt MK, van Beurden M, Zweemer RP, Rijcken F, Slangen BF, Burger CW, Seynaeve C.
- Ann Oncol. 2013 Aug;24(8):2036-42. doi: 10.1093/annonc/mdt068. Epub 2013 Mar 29.
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- The different impact of BRCA mutations on the survival of epithelial ovarian cancer patients: a retrospective single-center experience.
- Lorusso D, Cirillo F, Mancini M, Spatti GB, Grijuela B, Ditto A, Raspagliesi F.
- Oncology. [2013 Aug;]85(2):122-7. doi: 10.1159/000353786. Epub 2013 Aug 13.
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- High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
- Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.
- Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.
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Research news:
Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.
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- Tumour diploidy and survival in breast cancer patients with BRCA2 mutations.
- Tryggvadottir L, Olafsdottir EJ, Olafsdottir GH, Sigurdsson H, Johannsson OT, Bjorgvinsson E, Alexiusdottir K, Stefansson OA, Agnarsson BA, Narod SA, Eyfjord JE, Jonasson JG.
- Breast Cancer Res Treat. 2013 Jul;140(2):375-84. doi: 10.1007/s10549-013-2637-4. Epub 2013 Jul 16.
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- Risk factors for ovarian cancers with and without microsatellite instability.
- Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Ping S, Narod SA, Schildkraut J.
- Int J Gynecol Cancer. 2013 Jul;23(6):1010-5. doi: 10.1097/IGC.0b013e31829a5527.
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- Retracted
- Free PMC article
- Free Full Text
Retraction:
Retraction.
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- Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients.
- Hagag E, Shwaireb M, Coffa J, El Wakil A.
- East Mediterr Health J. 2013 Mar;19(3):255-62.
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- Genotype in BRCA-associated Breast Cancers.
- Meric-Bernstam F, Gutierrez-Barrera AM, Litton J, Mellor-Crummey L, Ready K, Gonzalez-Angulo AM, Lu KH, Hortobagyi GN, Arun BK.
- Breast J. 2013 Jan;19(1):87-91. doi: 10.1111/tbj.12056. Epub 2012 Dec 10.
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- Tissue-based predictors of germ-line BRCA1 mutations: implications for triaging of genetic testing.
- de la Cruz J, Andre F, Harrell RK, Bassett RL Jr, Arun B, Mathieu MC, Delaloge S, Gilcrease MZ.
- Hum Pathol. 2012 Nov;43(11):1932-9. doi: 10.1016/j.humpath.2012.02.002. Epub 2012 May 14.
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- Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer.
- Liu G, Yang D, Sun Y, Shmulevich I, Xue F, Sood AK, Zhang W.
- Pharmacogenomics. 2012 Oct;13(13):1523-35. doi: 10.2217/pgs.12.137.
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Press: Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer. (Medscape)
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- Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined.
- Heijnsdijk EA, Warner E, Gilbert FJ, Tilanus-Linthorst MM, Evans G, Causer PA, Eeles RA, Kaas R, Draisma G, Ramsay EA, Warren RM, Hill KA, Hoogerbrugge N, Wasser MN, Bergers E, Oosterwijk JC, Hooning MJ, Rutgers EJ, Klijn JG, Plewes DB, Leach MO, de Koning HJ.
- Cancer Epidemiol Biomarkers Prev. 2012 Sep;21(9):1458-68. doi: 10.1158/1055-9965.EPI-11-1196. Epub 2012 Jun 28.
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- Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
- Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
- Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
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- The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.
- Jönsson G, Staaf J, Vallon-Christersson J, Ringnér M, Gruvberger-Saal SK, Saal LH, Holm K, Hegardt C, Arason A, Fagerholm R, Persson C, Grabau D, Johnsson E, Lövgren K, Magnusson L, Heikkilä P, Agnarsson BA, Johannsson OT, Malmström P, Fernö M, Olsson H, Loman N, Nevanlinna H, Barkardottir RB, Borg Å.
- Cancer Res. 2012 Aug 15;72(16):4028-36. Epub 2012 Jun 15.
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- Improved survival for BRCA2-associated serous ovarian cancer compared with both BRCA-negative and BRCA1-associated serous ovarian cancer.
- Hyman DM, Zhou Q, Iasonos A, Grisham RN, Arnold AG, Phillips MF, Bhatia J, Levine DA, Aghajanian C, Offit K, Barakat RR, Spriggs DR, Kauff ND.
- Cancer. 2012 Aug 1;118(15):3703-9. doi: 10.1002/cncr.26655. Epub 2011 Dec 2.
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Press: Does BRCA2+ Confer a Survival Advantage in Ovarian Cancer? (Medscape)
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- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
- Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
- J Med Genet. 2012 Aug;49(8):525-32.
- PMID: 22889855
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Comments from NSGC Discussion Forum Cancer SIG
Subject: Pathogenic variant with low penetrance identified in BRCA1
Subject: Reduced penetrance pathogenic BRCA1 mutation
Free article: BRCA1 R1699Q Variant Displaying Ambiguous Functional Abrogation Confers Intermediate Breast and Ovarian Cancer Risk. (Medscape)
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- Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
- Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, Pujol P, Tinat J; GENEPSO, Lidereau R, Andrieu N.
- Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.
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- Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.
- Silva AG, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, de Nóbrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC.
- BMC Cancer. 2012 Jun 12;12:237. doi: 10.1186/1471-2407-12-237.
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- Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations.
- Moran A, O'Hara C, Khan S, Shack L, Woodward E, Maher ER, Lalloo F, Evans DG.
- Fam Cancer. 2012 Jun;11(2):235-42. doi: 10.1007/s10689-011-9506-2.
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- Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
- Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail MH, Hartge P, Peock S, Frost D, Evans DG, Eeles R, Godwin AK, Daly MB, Kwong A, Ma ES, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto MO, Johnatty SE, Kjær SK, Jensen A, Høgdall E, Goode EL, Fridley BL, Loud JT, Greene MH, Mai PL, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis IL, Toland AE, Senter L, Gore ME, Gourley C, Michie CO, Song H, Tyrer J, Whittemore AS, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine DA, Steele L, Beattie MS, Chan S, Nussbaum RL, Moysich KB, Gross J, Cass I, Walsh C, Li AJ, Leuchter R, Gordon O, Garcia-Closas M, Gayther SA, Chanock SJ, Antoniou AC, Pharoah PD; EMBRACE; kConFab Investigators; Cancer Genome Atlas Research Network.
- JAMA. 2012 Jan 25;307(4):382-90. doi: 10.1001/jama.2012.20.
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- Free PMC article
- Free Full Text
Comment, Editorial:
Unwrapping the implications of BRCA1 and BRCA2 mutations in ovarian cancer.
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- PubMed abstract
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Comment:
[Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer].
- PMID: 23053156
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Press: Women With Certain Type of Ovarian Cancer and BRCA Gene Mutation Have Improved Survival at 5 Years. (ScienceDaily)
Press: Survival Improved in Ovarian Cancer With BRCA Mutation. (Medscape)
Press: Ovarian cancer survival higher in BRCA mutation carriers. (PHG Foundation)
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- Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
- Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB; HEBON, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C; EMBRACE, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schönbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Cañadas C, Heikkinen T, Heikkilä P, Aittomäki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S; kConFab Investigators, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K; SWE-BRCA Collaborators, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of Modifiers of BRCA1/2.
- Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):134-47. doi: 10.1158/1055-9965.EPI-11-0775. Epub 2011 Dec 5.
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Comments from NSGC Discussion Forum Cancer SIG
Subject: Article Request
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- The CHEK2 I157T variant and breast cancer susceptibility: a systematic review and meta-analysis.
- Liu C, Wang Y, Wang QS, Wang YJ.
- Asian Pac J Cancer Prev. 2012;13(4):1355-60.
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- Meta-Analysis, Review
- Free Full Text (PDF)