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    • 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.
    • A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
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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.
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    • Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
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    • Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images.
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    • Cell Rep Med. 2022 Dec 20;3(12):100872. doi: 10.1016/j.xcrm.2022.100872. Epub 2022 Dec 13.

    •• Commentary:

    HRD-related morphology discovery in breast cancer by controlling for confounding factors.

    • BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
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    • Hereditary breast cancer: syndromes, tumour pathology and molecular testing.
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    • Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.
    • Clinical Application of Poly(ADP-ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
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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.
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    • ACS Omega. 2022 Nov 28;7(49):44772-44785. doi: 10.1021/acsomega.2c04782.
    • 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.
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    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
    • 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.
    • 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.

    •• 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?

    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
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    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
    • 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.
    • 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.
    • 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.
    • Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
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    • Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.
    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
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    • Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
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    • Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
    • 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.
    • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
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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.
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    • Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
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    • Proc Natl Acad Sci U S A. 2022 Sep 20;119(38):e2202727119. doi: 10.1073/pnas.2202727119. Epub 2022 Sep 13.
    • Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
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    • BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair.
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    • Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
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    • Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
    • 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.
    • Comment, Letter

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Original research:

    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

    • 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.
    • 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.
    • 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.
    • 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.

    Research news: PTEN Mutation Syndrome Leads to Breast Cancers With Distinct Molecular Alterations. (GenomeWeb)

    • 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.
    • 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.
    • 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.
    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.
    • Saito A, Tanioka M, Hirata M, Watanabe T, Odaka Y, Shimoi T, Sudo K, Noguchi E, Ishikawa M, Yonemori K.
    • Cancer Treat Res Commun. 2022 [Epub 2022 Jun 8];32:100587. doi: 10.1016/j.ctarc.2022.100587. Epub 2022 Jun 8.
    • Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.
    • Gallardo-Rincón D, Montes-Servín E, Alamilla-García G, Montes-Servín E, Bahena-González A, Cetina-Pérez L, Morales Vásquez F, Cano-Blanco C, Coronel-Martínez J, González-Ibarra E, Espinosa-Romero R, María Alvarez-Gómez R, Pedroza-Torres A, Castro-Eguiluz D.
    • Front Genet. 2022 Jun 6;13:863956. doi: 10.3389/fgene.2022.863956.
    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.
    • Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.
    • Gervas P, Molokov A, Babyshkina N, Kiselev A, Zarubin A, Yumov E, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Asian Pac J Cancer Prev. 2022 Jun 1;23(6):2027-2033. doi: 10.31557/APJCP.2022.23.6.2027.
    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373.

    Commentary:

    A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.

    Comment, Letter:

    Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Research news: Phenome-Wide Association Study Links Hereditary Cancer Genes to Additional Phenotypes. (GenomeWeb)

    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
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    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

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    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

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    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

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    Press: Chance Most “Pathogenic” Variants Will Actually Cause Disease Is Low. (Inside Precision Medicine)

    Press: Pathogenic Variants in Disease-Causing Genes Have Low Penetrance on Average, Study Finds. (GenomeWeb)

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    Commentary:

    Coiled-Coil Domain: Uncoiling Tumor Suppression by BRCA1.

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    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome.
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    Commentary:

    Exploring Gene-Specific Guidelines for Risk Management of Gynecological Cancer in Lynch Syndrome

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    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

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    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

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    • Impact of DNA damage repair defects on response to PSMA radioligand therapy in metastatic castration-resistant prostate cancer.
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    • A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
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    • The ten genes for breast (and ovarian) cancer susceptibility.
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    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.
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    • Review
    • Association between BRCA2 alterations and intraductal and cribriform histologies in prostate cancer.
    • Lozano R, Salles DC, Sandhu S, Aragón IM, Thorne H, López-Campos F, Rubio-Briones J, Gutierrez-Pecharroman AM, Maldonado L, di Domenico T, Sanz A, Prieto JD, García I, Pacheco MI, Garcés T, Llacer C, Romero-Laorden N, Zambrana F, López-Casas PP, Lorente D, Mateo J, Pritchard CC, Antonarakis ES, Olmos D, Lotan TL, Castro E.
    • Eur J Cancer. 2021 Feb 22;147:74-83. doi: 10.1016/j.ejca.2021.01.027. Epub ahead of print.
    • Association between BRCA2 alterations and intraductal and cribriform histologies in prostate cancer.
    • Lozano R, Salles DC, Sandhu S, Aragón IM, Thorne H, López-Campos F, Rubio-Briones J, Gutierrez-Pecharroman AM, Maldonado L, di Domenico T, Sanz A, Prieto JD, García I, Pacheco MI, Garcés T, Llacer C, Romero-Laorden N, Zambrana F, López-Casas PP, Lorente D, Mateo J, Pritchard CC, Antonarakis ES, Olmos D, Lotan TL, Castro E.
    • Eur J Cancer. 2021 Feb 21;147:74-83. doi: 10.1016/j.ejca.2021.01.027. Epub ahead of print.
    • Survival from breast cancer in women with a BRCA2 mutation by treatment.
    • Evans DG, Phillips KA, Milne RL, Fruscio R, Cybulski C, Gronwald J, Lubinski J, Huzarski T, Hyder Z, Forde C, Metcalfe K, Senter L, Weitzel J, Tung N, Zakalik D, Ekholm M, Sun P, Narod SA; kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group.
    • Br J Cancer. 2021 Feb 18. doi: 10.1038/s41416-020-01164-1. Epub ahead of print.
    • Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
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    • Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
    • 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.

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • A Population-Based Study of Genes Previously Implicated in Breast Cancer.
    • Hu C, Hart SN, Gnanaolivu R, Huang H, Lee KY, Na J, Gao C, Lilyquist J, Yadav S, Boddicker NJ, Samara R, Klebba J, Ambrosone CB, Anton-Culver H, Auer P, Bandera EV, Bernstein L, Bertrand KA, Burnside ES, Carter BD, Eliassen H, Gapstur SM, Gaudet M, Haiman C, Hodge JM, Hunter DJ, Jacobs EJ, John EM, Kooperberg C, Kurian AW, Le Marchand L, Lindstroem S, Lindstrom T, Ma H, Neuhausen S, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Pal T, Palmer JR, Patel AV, Reid S, Rosenberg L, Sandler DP, Scott C, Tamimi R, Taylor JA, Trentham-Dietz A, Vachon CM, Weinberg C, Yao S, Ziogas A, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Kraft P, Polley EC, Couch FJ.
    • N Engl J Med. 2021 Feb 4;384(5):440-451. doi: 10.1056/NEJMoa2005936. Epub 2021 Jan 20.

    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
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    Original research:

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.

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    Research news: Gene Testing for Patients With Breast Cancer and Second Cancer. (Medscape)

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    • Commentary

    Original research:

    Association of Genomic Domains in BRCA1 and BRCA2 With Prostate Cancer Risk and Aggressiveness.

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    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
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    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

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    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

    • Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
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    Commentary:

    Re: Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

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    Editorial:

    How Do We Respond to Men with BRCA Mutations when They Ask About Prostate Cancer?

    Comment:

    Re: Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study.

    Editorial:

    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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    Editorial:

    Genotype–phenotype correlation in BRCA1/2 mutation-associated pancreatic cancer.

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    • Letter, Commentary

    Original research:

    Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.

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    • Klaschik K, Hauke J, Neidhardt G, Tränkle C, Surowy HM, Heilmann-Heimbach S, Rappl G, Mangold E, Arnold N, Niederacher D, Sutter C, Burwinkel B, Engel C, Wappenschmidt B, Meindl A, Ernst C, Weber-Lassalle K, Weber-Lassalle N, Schmidt S, Borde J, Schmutzler RK, Hahnen E, Pohl-Rescigno E.
    • Int J Cancer. 2019 Apr 1;144(7):1761-1763. doi: 10.1002/ijc.32016. Epub 2019 Jan 6.
    • Letter

    Letter, Reply:

    Response to: The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.

    • Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
    • Singer CF, Tan YY, Muhr D, Rappaport C, Gschwantler-Kaulich D, Grimm C, Polterauer S, Pfeiler G, Berger A, Tea MM.
    • Cancer Med. 2019 Apr;8(4):1875-1881. doi: 10.1002/cam4.2000. Epub 2019 Mar 1.
    • Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
    • Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R.
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    • Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.
    • Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.
    • J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.
    • Terry MB, Liao Y, Kast K, Antoniou AC, McDonald JA, Mooij TM Engel C, Nogues C Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans DG, Eccles D, Cook J, Ong K, Izatt L, Ahmed M, Morrison PJ, Dommering CJ, Oosterwijk JC, Ausems MGEM, Kriege M, Buys SS, Andrulis IL, John EM, Daly M, Friedlander M, McLachlan SA, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, van Leeuwen FE, Goldgar D, Milne RL, Easton DF, Rookus MA, Andrieu N.
    • JNCI Cancer Spectrum. 2018 Nov 1 [Published 2019 Mar 8];2(4):pky078. doi: 10.1093/jncics/pky078.
    • Differential Response to Olaparib Treatment Among Men with Metastatic Castration-resistant Prostate Cancer Harboring BRCA1 or BRCA2 Versus ATM Mutations.
    • Marshall CH, Sokolova AO, McNatty AL, Cheng HH, Eisenberger MA, Bryce AH, Schweizer MT, Antonarakis ES.
    • Eur Urol. 2019 Feb 20. pii: S0302-2838(19)30110-1. doi: 10.1016/j.eururo.2019.02.002. [Epub ahead of print]
    • Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
    • Toss A, Venturelli M, Molinaro E, Pipitone S, Barbieri E, Marchi I, Tenedini E, Artuso L, Castellano S, Marino M, Tagliafico E, Razzaboni E, De Matteis E, Cascinu S, Cortesi L.
    • Cancers (Basel). 2019 Feb 7;11(2). pii: E193. doi: 10.3390/cancers11020193.
    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
    • Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.
    • Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Genetic variation and radiation quality impact cancer promoting cellular phenotypes in response to HZE exposure.
    • Sridharan DM, Enerio S, Wang C, LaBarge MA, Stampfer MR, Pluth JM.
    • Life Sci Space Res (Amst). 2019 Feb;20:101-112. doi: 10.1016/j.lssr.2018.10.002. Epub 2018 Oct 21.
    • Germline BRCA2 K3326X and CHEK2 I157T Mutations Increase Risk for Sporadic Pancreatic Ductal Adenocarcinoma.
    • Obazee O, Archibugi L, Andriulli A, Soucek P, Małecka-Panas E, Ivanauskas A, Johnson T, Gazouli M, Pausch T, Lawlor RT, Cavestro GM, Milanetto AC, Di Leo M, Pasquali C, Hegyi P, Szentesi A, Radu CE, Gheorghe C, Theodoropoulos GE, Bergmann F, Brenner H, Vodickova L, Katzke V, Campa D, Strobel O, Kaiser J, Pezzilli R, Federici F, Mohelnikova-Duchonova B, Boggi U, Lemstrova R, Johansen JS, Bojesen SE, Chen I, Jensen BV, Capurso G, Pazienza V, Dervenis C, Sperti C, Mambrini A, Hackert T, Kaaks R, Basso D, Talar-Wojnarowska R, Maiello E, Izbicki JR, Cuk K, Saum KU, Cantore M, Kupcinskas J, Palmieri O, Fave GD, Landi S, Salvia R, Fogar P, Vashist YK, Scarpa A, Vodicka P, Tjaden C, Iskierka-Jazdzewska E, Canzian F.
    • Int J Cancer. 2019 Jan 23. doi: 10.1002/ijc.32127. [Epub ahead of print]
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Current progress and questions in germline genetics of prostate cancer.
    • Isaacs WB, Xu J.
    • Asian J Urol. 2019 Jan;6(1):3-9. doi: 10.1016/j.ajur.2018.10.001. Epub 2018 Nov 2.

    Comment, Letter:

    Testing for BRCA1/2 and ataxiatelangiectasia mutated in men with high prostate indices: An approach to reducing prostate cancer mortality in Asia and Africa.

    • Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
    • Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR.
    • Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9.
    • Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.
    • Downs B, Sherman S, Cui J, Kim YC, Snyder C, Christensen M, Luo J, Lynch H, Wang SM.
    • Eur J Cancer. 2019 Jan;107:68-78. doi: 10.1016/j.ejca.2018.10.022. Epub 2018 Dec 11.
    • Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.
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    • Fam Cancer. 2019 Jan;18(1):1-8. doi: 10.1007/s10689-018-0079-1.
    • The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
    • Edwinsdotter Ardnor C, Rosén A, Ljuslinder I, Melin B.
    • Fam Cancer. 2019 Jan;18(1):37-42. doi: 10.1007/s10689-018-0098-y.
    • Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    • Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM; UNICANCER Genetic Group BRCA network.
    • Mol Cancer Res. 2019 Jan;17(1):54-69. doi: 10.1158/1541-7786.MCR-17-0357. Epub 2018 Sep 26.
    • Experiencia con el uso de olaparib en pacientes con cáncer de ovario.
    • Gallardo-Rincón D, Alamilla-García G, Montes-Servín E, Morales-Vázquez F, Cano-Blanco C, Coronel-Martínez J, Bahena-González A, Gerson-Cwilich R, Isla-Ortiz D, Toledo-Leyva A, Montes-Servín E, Michel-Tello D, Espinosa-Romero R.
    • Gac Med Mex. 2019;155(6):585-589. doi: 10.24875/GMM.19005494.
    • Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han JW, Lee JY, Kim S, Kim SW, Kim YT, Nam EJ.
    • Anticancer Res. 2018 Dec;38(12):6947-6953. doi: 10.21873/anticanres.13073.
    • A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome.
    • Du C, Mark D, Wappenschmidt B, Böckmann B, Pabst B, Chan S, Cao H, Morlot S, Scholz C, Auber B, Rhiem K, Schmutzler R, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res Treat. 2018 Dec;172(3):561-569. doi: 10.1007/s10549-018-4957-x. Epub 2018 Sep 6.
    • Case report
    • A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
    • de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, de Aquino MAA, Agnez-Lima LF, Lajus TBP.
    • Breast Cancer Res Treat. 2018 Dec;172(3):637-646. doi: 10.1007/s10549-018-4938-0. Epub 2018 Aug 29.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
    • Cox DM, Nelson KL, Clytone M, Collins DL.
    • Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.
    • Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA.
    • Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13
    • Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
    • Rafnar T, Sigurjonsdottir GR, Stacey SN, Halldorsson G, Sulem P, Pardo LM, Helgason H, Sigurdsson ST, Gudjonsson T, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Alexiusdottir K, Sigurdsson A, Gudmundsson J, Saemundsdottir J, Sigurdsson JK, Johannsdottir H, Uitterlinden A, Vermeulen SH, Galesloot TE, Allain DC, Lacko M, Sigurgeirsson B, Thorisdottir K, Johannsson OT, Sigurdsson F, Ragnarsson GB, Isaksson H, Hardardottir H, Gudbjartsson T, Gudbjartsson DF, Masson G, Kiemeney LAML, Ewart Toland A, Nijsten T, Peters WHM, Olafsson JH, Jonsson S, Thorsteinsdottir U, Thorleifsson G, Stefansson K.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):967-974. doi: 10.1093/jnci/djy002.

    Research News:

    Mixing Mutation Location With Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?

    • Association Between BRCA Status and Triple-Negative Breast Cancer: A Meta-Analysis.
    • Chen H, Wu J, Zhang Z, Tang Y, Li X, Liu S, Cao S, Li X.
    • Front Pharmacol. 2018 Aug 21;9:909. doi: 10.3389/fphar.2018.00909. eCollection 2018.
    • BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
    • Cardoso FC, Goncalves S, Mele PG, Liria NC, Sganga L, Diaz Perez I, Podesta EJ, Solano AR.
    • Hum Genomics. 2018 Aug 13;12(1):39. doi: 10.1186/s40246-018-0171-5.
    • A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
    • Krempely K, Karam R.
    • Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
    • Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
    • Evans DG, Woodward E, Harkness EF, Howell A, Plaskocinska I, Maher ER, Tischkowitz MD, Lalloo F.
    • J Med Genet. 2018 Jul;55(7):442-448. doi: 10.1136/jmedgenet-2017-105223. Epub 2018 Feb 26.
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
    • Petelin L, Liew D, Mitchell G, James PA, Trainer AH.
    • Value Health. 2018 Jul;21(7):891-893. doi: 10.1016/j.jval.2018.02.009. Epub 2018 May 16.
    • Letter

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

    • The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
    • Teixeira N, van der Hout A, Oosterwijk JC, Vos JR; HEBON, Devilee P, van Engelen K, Meijers-Heijboer H, van der Luijt RB, Kriege M, Mensenkamp AR, Rookus MA, van Roozendaal KE, Mourits MJE, de Bock GH.
    • Eur J Hum Genet. 2018 Jun;26(6):848-857. doi: 10.1038/s41431-018-0111-9. Epub 2018 Feb 26.
    • Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features.
    • Abdulrahman AA, Heintzelman RC, Corbman M, Garcia FU.
    • Breast J. 2018 May;24(3):291-297. doi: 10.1111/tbj.12930. Epub 2017 Oct 7.
    • BRCA1/2 germline missense mutations: a systematic review.
    • Corso G, Feroce I, Intra M, Toesca A, Magnoni F, Sargenti M, Naninato P, Caldarella P, Pagani G, Vento A, Veronesi P, Bonanni B, Galimberti V.
    • Eur J Cancer Prev. 2018 May;27(3):279-286. doi: 10.1097/CEJ.0000000000000337.
    • Review
    • Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer.
    • Yazıcı H, Kılıç S, Akdeniz D, Şükrüoğlu Ö, Tuncer ŞB, Avşar M, Kuru G, Çelik B, Küçücük S, Saip P.
    • Eur J Breast Health. 2018 Apr 1;14(2):93-99. doi: 10.5152/ejbh.2017.3799. eCollection 2018 Apr.
    • Genotype-Phenotype Correlations in Breast Cancer.
    • Marotti JD, Schnitt SJ.
    • Surg Pathol Clin. 2018 Mar;11(1):199-211. doi: 10.1016/j.path.2017.09.008. Epub 2017 Dec 15.
    • Review
    • Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.
    • Park JS, Lee ST, Han JW, Kim TI, Nam EJ, Park HS.
    • Clin Breast Cancer. 2018 Feb 20. pii: S1526-8209(17)30785-1. doi: 10.1016/j.clbc.2018.02.007. [Epub ahead of print]
    • "Lazarus Response" to Olaparib in a Virtually Chemonaive Breast Cancer Patient Carrying Gross BRCA2 Gene Deletion.
    • Moiseyenko VM, Chubenko VA, Moiseyenko FV, Zagorskaya LA, Zaytseva YA, Gesha NE, Zykov EN, Ni VI, Preobrazhenskaya EV, Sokolenko AP, Imyanitov EN.
    • Cureus. 2018 Feb 4;10(2):e2150. doi: 10.7759/cureus.2150.
    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
    • Palmirotta R, Lovero D, Stucci LS, Silvestris E, Quaresmini D, Cardascia A, Silvestris F.
    • Int J Mol Sci. 2018 Jan 18;19(1). pii: E285. doi: 10.3390/ijms19010285.
    • Location of mutation in BRCA2 gene and survival in patients with ovarian cancer.
    • Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger SJ, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, Bonadona V, Ray-Coquard I.
    • Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30.
    • A Novel Model to Characterize Structure and Function of BRCA1.
    • Lin D, Izadpanah R, Braun SE, Alt E.
    • Cell Biol Int. 2018 Jan;42(1):34-44. doi: 10.1002/cbin.10846. Epub 2017 Oct 25.
    • Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
    • El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.
    • Fam Cancer. 2018 Jan;17(1):5-14. doi: 10.1007/s10689-017-9999-4.
    • The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
    • Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG.
    • J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10.
    • Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2.
    • Schoolmeester JK, Moyer AM, Goodenberger ML, Keeney GL, Carter JM, Bakkum-Gamez JN.
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    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. High-Penetrance Breast and/or Gynecologic Cancer Susceptibility Genes. BRCA1 and BRCA2. Genotype-phenotype correlations.
    • PDQ Cancer Genetics Editorial Board.
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    • Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
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    • Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.
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    • Clinical implications of germline mutations in breast cancer: TP53.
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    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

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    Preview, Research news:

    Aldehydes Pose a Threat to BRCA2 Mutation Carriers.

    Research news:

    Aldehydes Promote BRCA2 Haploinsufficiency and Genomic Instability.

    Research report, Commentary:

    Thwarting endogenous stress: BRCA protects against aldehyde toxicity.

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    Comment / Editorial

    BRCA2-Branching Out Too?

    News

    BRCA2 variant aerodigestive cancer risk.

    • 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.

    News

    BRCA1 and BRCA2 mutation type associated with cancer risk.

    Research Highlight

    Genetics: Breast and ovarian cancer risk varies by BRCA mutation type.

    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)

    • 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.
    • 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.
    • 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.
    • 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.
    • Invasion patterns of metastatic high-grade serous carcinoma of ovary or fallopian tube associated with BRCA deficiency.
    • Reyes MC, Arnold AG, Kauff ND, Levine DA, Soslow RA.
    • Mod Pathol. 2014 Oct;27(10):1405-11. doi: 10.1038/modpathol.2013.237. Epub 2014 Feb 28.
    • 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.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Population screening for BRCA1/2

    • 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.
    • Case report
    • 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.
    • 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.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • 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.
    • Case report
    • 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.
    • 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.
    • Case report, Letter
    • 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.
    • 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.
    • 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.
    • 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.
    • 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.

    Research news:

    Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.

    • 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.
    • 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.

    Retraction:

    Retraction.

    • 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.
    • 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.
    • 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.
    • 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.

    Press: Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer. (Medscape)

    • 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.
    • 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.
    • 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.
    • 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.

    Press: Does BRCA2+ Confer a Survival Advantage in Ovarian Cancer? (Medscape)

    • 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.

    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)

    • 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.
    • 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.
    • 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.
    • 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.

    Comment, Editorial:

    Unwrapping the implications of BRCA1 and BRCA2 mutations in ovarian cancer.

    Comment:

    [Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer].

    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)

    • 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.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article Request

    • 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.