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    •• Commentary:

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

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    •• 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?

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    • Martin CA, Suárez Villasmil L, Sembaj A, Gomez Balangione F, Zunino S, Montes CDC, Borello A, Del Castillo A, Zeballos M, Rossi NT.
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    • Constitutional BRCA1 Methylation and Risk of Incident Triple-Negative Breast Cancer and High-grade Serous Ovarian Cancer.
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    • BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.
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    • Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
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    • Background Parenchymal Enhancement at Postoperative Surveillance Breast MRI: Association with Future Second Breast Cancer Risk.
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    • Radiology. 2022 Aug 30:220440. doi: 10.1148/radiol.220440. Epub ahead of print.

    Commentary:

    Background Parenchymal Enhancement at Breast MRI: More Is Not Better.

    • Eligibility, uptake and response to germline genetic testing in women with DCIS.
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    • Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
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    • BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
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    • Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
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    • Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.
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    • Genetic and clinical characteristics of BRCA-associated hereditary breast cancer in the West region of Kazakhstan.
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    • What are the considerations in patient selection and timing of risk-reducing mastectomy?
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    • Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
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    • Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis.
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    • Histological and Immunohistochemical Characteristics for Hereditary Breast Cancer Risk in a Cohort of Brazilian Women.
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    • Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
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    • Cancer Med. 2022 Jul 31. doi: 10.1002/cam4.5091. Epub ahead of print.
    • Satisfaction and Quality of Life of Healthy and Unilateral Diseased BRCA1/2 Pathogenic Variant Carriers after Risk-Reducing Mastectomy and Reconstruction Using the BREAST-Q Questionnaire.
    • Herold N, Hellmich M, Lichtenheldt F, Ataseven B, Hillebrand V, Wappenschmidt B, Schmutzler RK, Rhiem K.
    • Genes (Basel). 2022 Jul 28;13(8):1357. doi: 10.3390/genes13081357.
    • High grade acinic cell carcinoma of the breast with clear cytoplasm mimics clear cell carcinoma in a BRCA1 mutation carrier: a case report and review of the literature on the molecular analysis.
    • Min L, Qiao H, Hongkai Z.
    • Histol Histopathol. 2022 Jul 27:18501. doi: 10.14670/HH-18-501. Epub ahead of print.
    • Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants.
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    • Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
    • Paduano F, Colao E, Fabiani F, Rocca V, Dinatolo F, Dattola A, D'Antona L, Amato R, Trapasso F, Baudi F, Perrotti N, Iuliano R.
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    • Peutz-Jeghers Syndrome.
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    • 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.

    • Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
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    • Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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    • Cancers (Basel). 2022 Jul 5;14(13):3292. doi: 10.3390/cancers14133292.
    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
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    • Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
    • Pujol P, Yauy K, Coffy A, Duforet-Frebourg N, Gabteni S, Daurès JP, Penault Llorca F, Thomas F, Hughes K, Turnbull C, Galibert V, Rideau C, Corsini C, Collet L, You B, Geneviève D, Philippe N.
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    • Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations.
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    • Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next-generation sequencing in Ramathibodi Hospital, Mahidol University.
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    • PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
    • Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM.
    • Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24.
    • Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study.
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    • Breast Cancer Res Treat. 2022 Jul;194(1):159-170. doi: 10.1007/s10549-022-06608-1. Epub 2022 May 4.
    • Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
    • Bang YJ, Kwon WK, Nam SJ, Kim SW, Chae BJ, Lee SK, Ryu JM, Kim JW, Yu J, Lee JE.
    • Cancer Res Treat. 2022 Jul;54(3):827-833. doi: 10.4143/crt.2021.791. Epub 2021 Oct 13.
    • Durable Disease-free Survival in a Patient with Metastatic Triple-negative Breast Cancer Treated with Olaparib Monotherapy.
    • Wang X, Hu N, Cui L, Si Y, Yue J, Zheng F, Kang Y, Yuan P.
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    • Evaluating breast cancer predisposition genes in women of African ancestry.
    • Díaz-Zabala H, Guo X, Ping J, Wen W, Shu XO, Long J, Lipworth L, Li B, Fadden MK, Pal T, Blot WJ, Cai Q, Haiman CA, Palmer JR, Sanderson M, Zheng W.
    • Genet Med. 2022 Jul;24(7):1468-1475. doi: 10.1016/j.gim.2022.03.015. Epub 2022 Apr 8.
    • Founder BRCA1 mutations in Nepalese population.
    • Mehta A, Diwan H, Gupta G, Nathany S, Agnihotri S, Dhanda S.
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    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
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    • Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
    • Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C.
    • BMC Cancer. 2022 Jun 27;22(1):706. doi: 10.1186/s12885-022-09780-1.
    • Breast Cancer with Low Recurrence Score on Oncotype DX©: Interplay Between Early Recurrence, Lobular Histology and BRCA Mutation.
    • Zarbiv Y, Wygoda YB, Grinshpun A, Hamburger T, Sella T, Breuer S, Maimon O, Rottenberg Y, Peretz T, Kadouri L.
    • Oncol Ther. 2022 Jun 25. doi: 10.1007/s40487-022-00202-7. Epub ahead of print.
    • Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
    • Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M.
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    • Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
    • Akbar F, Siddiqui Z, Waheed MT, Ehsan L, Ali SI, Wiquar H, Valimohammed AT, Khan S, Vohra L, Zeeshan S, Rashid Y, Moosajee M, Jabbar AA, Zahir MN, Zahid N, Soomro R, Ullah NN, Ahmad I, Haider G, Ansari U, Rizvi A, Mehboobali A, Sattar A, Kirmani S.
    • Hered Cancer Clin Pract. 2022 Jun 16;20(1):24. doi: 10.1186/s13053-022-00232-2.
    • 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.
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    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
    • Ge S, Wang B, Wang Z, He J, Ma X.
    • Front Oncol. 2022 Jun 8;12:840431. doi: 10.3389/fonc.2022.840431.
    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
    • Pintican RM, Chiorean A, Duma M, Feier D, Szep M, Eniu D, Goidescu I, Dudea S.
    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Li S, Nguyen TL, Nguyen-Dumont T, Dowty JG, Dite GS, Ye Z, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Hopper JL, Southey MC.
    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome.
    • Hoxhaj A, Drissen MMCM, Vos JR, Bult P, Mann RM, Hoogerbrugge N.
    • Cancer. 2022 Jun 1. doi: 10.1002/cncr.34326. Epub ahead of print
    • Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
    • Waks AG, Kim D, Jain E, Snow C, Kirkner GJ, Rosenberg SM, Oh C, Poorvu PD, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Warner E, Collins LC, Partridge AH, Wagle N.
    • Clin Cancer Res. 2022 Jun 1;28(11):2339-2348. doi: 10.1158/1078-0432.CCR-21-2572.

    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

    • The Effect of Age on Outcomes After Neoadjuvant Chemotherapy for Breast Cancer.
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    • Outcomes of non-metastatic triple negative breast cancers: Real-world data from a large Indian cohort.
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    • Breast. 2022 Jun;63:77-84. doi: 10.1016/j.breast.2022.03.011. Epub 2022 Mar 19.
    • PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
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    • Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.
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    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
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    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.
    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
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    • Therapeutic pattern and progress of neoadjuvant treatment for triple-negative breast cancer.
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    • Molecular phenotypes and clinical characterization of familial hereditary breast cancer among half and full sisters.
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    Original research:

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

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    • Review

    Commentary:

    Invited Commentary: The Challenges of Early-Onset Breast Cancer.

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    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

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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.

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    • Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
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    • Breast Cancer Res. 2021 Aug 18;23(1):86. doi: 10.1186/s13058-021-01450-7.
    • Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
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    • Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women.
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    • FORCE. XRAY. 2021 Aug 13.

    Original research:

    Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.

    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
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    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • Association of Genetic Testing Results with Mortality Among Women with Breast Cancer or Ovarian Cancer.
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    • J Natl Cancer Inst. 2021 Aug 9:djab151. doi: 10.1093/jnci/djab151. Epub ahead of print.
    • Risks and Function of Breast Cancer Susceptibility Alleles.
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    Original research:

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

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    Research news: Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women. (FORCE. XRAY)

    Research news: UPenn Study Finds Similar Rates of Risk Mutations Among Black, White Breast Cancer Patients. (Precision Oncology News)

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    Original research:

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    • Letter, Commentary

    Original research:

    Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns.

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    Comments on "Association between breast cancer risk and disease aggressiveness: Characterizing underlying gene expression patterns".

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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.
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    • 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)

    • Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
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    • Review
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    • Letter

    Original research:

    Olaparib and durvalumab in patients with germline BRCA-mutated metastatic breast cancer (MEDIOLA): an open-label, multicentre, phase 1/2, basket study.

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    • Bilateral Disease Common Among Slovenian CHEK2-Positive Breast Cancer Patients.
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    • Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans.
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    • Breast Cancer Surveillance Following Ovarian Cancer in BRCA Mutation Carriers.
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    • Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer.
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    • Breast cancer screening in women at high risk of hereditary breast cancer: an Australian experience.
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    • Pathology of Hereditary Breast and Ovarian Cancer.
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    • Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk.
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    • Screening of germline mutations in young Rwandan patients with breast cancers.
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    • Significance of E-cadherin Gene Mutations in Patients With Hereditary Diffuse Gastric Cancer Syndrome: A Systematic Review.
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    • Review

    Commentary:

    Invited Commentary: Breast Cancer Risk Assessment and Screening Strategies-What's New?

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    Editorial:

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

    • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
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    Research news: Breast Cancer Susceptibility GWAS Highlights Dozens New Loci, Some Subtype-Specific. (GenomeWeb)

    Research news: Analysis of 100 Studies Reveals 32 New Sites of Genetic Variation Linked to Breast Cancer. (Clinical OMICS)

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    • Kaname T.
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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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    Original research:

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    • Letter, Comment

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    Research news: Study of the PARP inhibitor talazoparib (Talzenna) for early-stage breast cancer is promising. (FORCE. XRAYS.)

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    Comment:

    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

    MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc).

    Research news: MRI or mammograms for detecting breast cancer in families with unknown genetic mutations? (FORCE. XRAYS.)

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    • Letter, Commentary

    Original research:

    Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.

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    In BRCA mutation carriers breast conserving surgery may not be the best choice.

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    Letter, Comment:

    Breast Cancer Screening in BRCA Mutation Carriers: Necessity of a Relevant Update of Mammographic Modalities.

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    • 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.

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    Research News: Inherited breast cancer in Nigerian women. (FORCE XRAYS)

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    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
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    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

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    Letter

    Common genetic susceptibility to DCIS and invasive ductal carcinoma.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: HR-low-positive tumors. Treat as TNBC?

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    Commentary

    RANKL/OPG in Breast Cancer - Extending Its Territory to BRCA Mutation Carriers.

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    • van Verschuer VM, Hooning MJ, van Baare-Georgieva RD, Hollestelle A, Timmermans AM, Koppert LB, Verhoog LC, Martens JW, Seynaeve C, van Deurzen CH.
    • Hum Pathol. 2015 Feb;46(2):182-90. doi: 10.1016/j.humpath.2014.10.020. Epub 2014 Nov 15.
    • Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.
    • Zhang L, Fang C, Xu X, Li A, Cai Q, Long X.
    • Biomed Res Int. 2015;2015:357485. doi: 10.1155/2015/357485. Epub 2015 Jan 28.
    • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
    • Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I; Breast Cancer Family Registry, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S, Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, Tafur I, Hander M, Peterlongo P, Manoukian S, Peissel B, Roversi G, Scuvera G, Bonanni B, Mariani P, Volorio S, Dolcetti R, Varesco L, Papi L, Tibiletti MG, Giannini G, Fostira F, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D; EMBRACE Study, Douglas F, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S, Godwin AK, Rhiem K, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Steinemann D, Bogdanova-Markov N, Kast K, Varon-Mateeva R, Wang-Gohrke S, Gehrig A, Markiefka B, Buecher B, Lefol C, Stoppa-Lyonnet D, Rouleau E, Prieur F, Damiola F; GEMO Study Collaborators, Barjhoux L, Faivre L, Longy M, Sevenet N, Sinilnikova OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M, Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen CH, van der Luijt RB; HEBON, Olah E, Diez O, Lazaro C, Blanco I, Teulé A, Menendez M, Jakubowska A, Lubinski J, Cybulski C, Gronwald J, Jaworska-Bieniek K, Durda K, Arason A, Maugard C, Soucy P, Montagna M, Agata S, Teixeira MR; KConFab Investigators, Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI, Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A, Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch FJ, Antoniou AC; CIMBA.
    • Breast Cancer Res. 2014 Dec 31;16(6):3416. doi: 10.1186/s13058-014-0492-9.
    • Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
    • Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q, Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins J, Evans D, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L, Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen M, Jensen U, Rantala J, Borg Å, Andrulis IL, Miron A, Hansen T, Caldes T, Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A, Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid M, Tung N, Pharoah P, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A, Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D, Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whittemore AS, West DW, Hamann U, Torres D, Ulmer H, Rüdiger T, Devilee P, Tollenaar R, Seynaeve C, Van Asperen CJ, Eccles DM, Tapper WJ, Durcan L, Jones L, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Dwek M, Swann R, Bane AL, Glendon G, Mulligan AM, Giles GG, Milne RL, Baglietto L, McLean C, Carpenter J, Clarke C, Scott R, Brauch H, Brüning T, Ko YD, Cox A, Cross SS, Reed M, Lubinski J, Jaworska-Bieniek K, Durda K, Gronwald J, Dörk T, Bogdanova N, Park-Simon TW, Hillemanns P, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Burwinkel B, Marme F, Surovy H, Yang R, Anton-Culver H, Ziogas A, Hooning MJ, Collée J, Martens J, Tilanus-Linthorst M, Brenner H, Dieffenbach A, Arndt V, Stegmaier C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Lindblom A, Margolin S, Joseph V, Robson M, Rau-Murthy R, González-Neira A, Arias J, Zamora P, Benítez J, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Peterlongo P, Zaffaroni D, Barile M, Capra F, Radice P, Teo SH, Easton DF, Antoniou AC, Chenevix-Trench G, Goldgar DE; ABCTB Investigators; EMBRACE Group; GENICA Network; HEBON Group; kConFab Investigators.
    • Breast Cancer Res. 2014 Dec 23;16(6):3419. doi: 10.1186/s13058-014-0474-y.
    • Clinicopathological features of young patients (<35 years of age) with breast cancer in a Japanese Breast Cancer Society supported study.
    • Kataoka A, Tokunaga E, Masuda N, Shien T, Kawabata K, Miyashita M.
    • Breast Cancer. 2014 Nov;21(6):643-50. doi: 10.1007/s12282-013-0466-2. Epub 2013 Apr 16.
    • Retraction: Relation between HPV genotypes and BRCA mutation in familial breast cancer.
    • Rassi H, Mohammadian T, Salmanpor S, Gholami Roudmajani E.
    • J Microbiol Biotechnol. 2014 Oct 8. doi: 10.4014/jmb.1407.07011. [Epub ahead of print]
    • Prognostic information of a previously diagnosed sister is an independent prognosticator for a newly diagnosed sister with breast cancer.
    • Lindström LS, Li J, Lee M, Einbeigi Z, Hartman M, Hall P, Czene K.
    • Ann Oncol. 2014 Oct;25(10):1966-72. doi: 10.1093/annonc/mdu270. Epub 2014 Jul 23.
    • Comparison of nodal metastasis between BRCA mutation carriers and non-BRCA mutation carriers with breast cancer.
    • Noori SF, Gangi A, Nelson ME, Choi M, Mirzadehgan P, Bonk AK, Mirocha J, Amersi F, Giuliano AE.
    • Ann Surg Oncol. 2014 Oct;21(10):3324-9. doi: 10.1245/s10434-014-3904-2. Epub 2014 Jul 22.
    • Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
    • Gevensleben H, Bossung V, Meindl A, Wappenschmidt B, de Gregorio N, Osorio A, Romero A, Buettner R, Markiefka B, Schmutzler RK.
    • Virchows Arch. 2014 Sep;465(3):365-9. doi: 10.1007/s00428-014-1619-1. Epub 2014 Jul 4.
    • Letter
    • Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
    • Valente AL, Rummel S, Shriver CD, Ellsworth RE.
    • Hered Cancer Clin Pract. 2014 Jul 19;12(1):17. doi: 10.1186/1897-4287-12-17. eCollection 2014.
    • 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.
    • Outcome of triple negative breast cancer: comparison of sporadic and BRCA1-associated cancers.
    • Tung N, Gaughan E, Hacker MR, Lee LJ, Alexander B, Poles E, Schnitt SJ, Garber JE.
    • Breast Cancer Res Treat. 2014 Jul;146(1):175-82. doi: 10.1007/s10549-014-2995-6. Epub 2014 May 18.
    • A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival.
    • Anjum S, Fourkala EO, Zikan M, Wong A, Gentry-Maharaj A, Jones A, Hardy R, Cibula D, Kuh D, Jacobs IJ, Teschendorff AE, Menon U, Widschwendter M.
    • Genome Med. 2014 Jun 27;6(6):47. doi: 10.1186/gm567. eCollection 2014.

    Press: Prospects for blood test to predict breast cancer risk. (PHG Foundation)

    • Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.
    • Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG; Northwestern Cancer Genetics Group.
    • Cancer. 2014 May 15;120(10):1557-64. doi: 10.1002/cncr.28577. Epub 2014 Feb 12.
    • Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    • Purrington KS, Slager S, Eccles D, Yannoukakos D, Fasching PA, Miron P, Carpenter J, Chang-Claude J, Martin NG, Montgomery GW, Kristensen V, Anton-Culver H, Goodfellow P, Tapper WJ, Rafiq S, Gerty SM, Durcan L, Konstantopoulou I, Fostira F, Vratimos A, Apostolou P, Konstanta I, Kotoula V, Lakis S, Dimopoulos MA, Skarlos D, Pectasides D, Fountzilas G, Beckmann MW, Hein A, Ruebner M, Ekici AB, Hartmann A, Schulz-Wendtland R, Renner SP, Janni W, Rack B, Scholz C, Neugebauer J, Andergassen U, Lux MP, Haeberle L, Clarke C, Pathmanathan N, Rudolph A, Flesch-Janys D, Nickels S, Olson JE, Ingle JN, Olswold C, Slettedahl S, Eckel-Passow JE, Anderson SK, Visscher DW, Cafourek VL, Sicotte H, Prodduturi N, Weiderpass E, Bernstein L, Ziogas A, Ivanovich J, Giles GG, Baglietto L, Southey M, Kosma VM, Fischer HP; GENICA Network, Reed MW, Cross SS, Deming-Halverson S, Shrubsole M, Cai Q, Shu XO, Daly M, Weaver J, Ross E, Klemp J, Sharma P, Torres D, Rüdiger T, Wölfing H, Ulmer HU, Försti A, Khoury T, Kumar S, Pilarski R, Shapiro CL, Greco D, Heikkilä P, Aittomäki K, Blomqvist C, Irwanto A, Liu J, Pankratz VS, Wang X, Severi G, Mannermaa A, Easton D, Hall P, Brauch H, Cox A, Zheng W, Godwin AK, Hamann U, Ambrosone C, Toland AE, Nevanlinna H, Vachon CM, Couch FJ.
    • Carcinogenesis. 2014 May;35(5):1012-9. doi: 10.1093/carcin/bgt404. Epub 2013 Dec 9.
    • Medullary breast carcinoma in an 18-year-old female: report on one case diagnosed on fine-needle cytology sample.
    • Galzerano A, Rocco N, Accurso A, Ciancia G, Campanile AC, Caccavello F, Fulciniti F.
    • Diagn Cytopathol. 2014 May;42(5):445-8. doi: 10.1002/dc.22947. Epub 2013 Jan 22.
    • Case report
    • Genetic Susceptibility to Triple‐Negative Breast Cancers.
    • Michelle W Wong‐Brown, Rodney J Scott.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net ; 2014 May; doi: 10.1002/9780470015902.a0025352.
    • Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
    • McVeigh TP, Choi JK, Miller NM, Green AJ, Kerin MJ.
    • Clin Breast Cancer. 2014 Apr;14(2):e47-51. doi: 10.1016/j.clbc.2013.10.007. Epub 2013 Oct 25.
    • Case Report, Review
    • Triple-negative breast cancer frequency and type of BRCA mutation: Clues from Sardinia.
    • Palomba G, Budroni M, Olmeo N, Atzori F, Ionta MT, Pisano M, Tanda F, Cossu A, Palmieri G.
    • Oncol Lett. 2014 Apr;7(4):948-952. Epub 2014 Jan 28.
    • Male Breast Cancer and Hyperestrogenemia: A Thirteen-Year Review.
    • Tariq KB, Al-Saffar F, Ibrahim S, Pham D, Farhangi A, Rana F, Zaiden R.
    • World J Oncol. 2014 Apr;5(2):55-61. doi: 10.14740/wjon803w. Epub 2014 May 6.
    • Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
    • Andrés R, Pajares I, Balmaña J, Llort G, Ramón Y Cajal T, Chirivella I, Aguirre E, Robles L, Lastra E, Pérez-Segura P, Bosch N, Yagüe C, Lerma E, Godino J, Miramar MD, Moros M, Astier P, Saez B, Vidal MJ, Arcusa A, Ramón Y Cajal S, Calvo MT, Tres A.
    • Clin Transl Oncol. 2014 Mar;16(3):280-4. doi: 10.1007/s12094-013-1070-9. Epub 2013 Aug 27.
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis.
    • Tun N, Villani G, Ong K, Yoe L, Bo Z.
    • Clin Genet. 2014 Jan;85(1):43-8. doi: 10.1111/cge.12270. Epub 2013 Oct 3.
    • Meta-Analysis
    • Lobulitis in nonneoplastic breast tissue from breast cancer patients: association with phenotypes that are common in hereditary breast cancer.
    • Gulbahce HE, Vanderwerf S, Blair C, Sweeney C.
    • Hum Pathol. 2014 Jan;45(1):78-84. doi: 10.1016/j.humpath.2013.08.008. Epub 2013 Oct 21.
    • Prognostic role of BRCA1 mutation in patients with triple-negative breast cancer.
    • Maksimenko J, Irmejs A, Nakazawa-Miklasevica M, Melbarde-Gorkusa I, Trofimovics G, Gardovskis J, Miklasevics E.
    • Oncol Lett. 2014 Jan;7(1):278-284. Epub 2013 Nov 14.
    • 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.
    • [Characteristics of selected clinical features in BRCA1 mutation carriers affected with breast cancer undergoing preventive female genital tract surgeries].
    • Menkiszak J, Chudecka-Głaz A, Gronwald J, Bedner R, Cymbaluk-Płoska A, Wezowska M, Zielińska D, Rzepka-Górska I.
    • Ginekol Pol. 2013 Sep;84(9):758-64.
    • 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.
    • Are bilateral breast cancers different from breast cancers coexisting with ovarian cancer? An immunohistochemical analysis aimed at intrinsic tumor phenotype.
    • Senkus E, Szade J, Pieczyńska B, Żaczek A, Brożek I, Radecka B, Kowalczyk A, Wełnicka-Jaśkiewicz M, Jassem J.
    • Breast. 2013 Aug;22(4):425-30. doi: 10.1016/j.breast.2013.04.005. Epub 2013 May 1.
    • Angiogenetic axis angiopoietins/Tie2 and VEGF in familial breast cancer.
    • Danza K, Pilato B, Lacalamita R, Addati T, Giotta F, Bruno A, Paradiso A, Tommasi S.
    • Eur J Hum Genet. 2013 Aug;21(8):824-30. doi: 10.1038/ejhg.2012.273. Epub 2012 Dec 12.
    • The complex genetic landscape of familial breast cancer.
    • Melchor L, Benítez J.
    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • Review
    • Tuberin and p27 expression in breast cancer patients with or without BRCA germline mutations.
    • Dressler AC, Hudelist G, Fink-Retter A, Gschwantler-Kaulich D, Pfeiler G, Rosner M, Hengstschläger M, Singer CF.
    • J Cancer Res Clin Oncol. 2013 Aug;139(8):1349-55. doi: 10.1007/s00432-013-1443-z. Epub 2013 May 21.
    • Tumour morphology predicts PALB2 germline mutation status.
    • Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, Shackleton K, Cicciarelli L; kConFab, Buys SS, Andrulis IL, Mulligan AM, Glendon G, John EM, Terry MB, Daly M, Odefrey FA, Nguyen-Dumont T, Giles GG, Dowty JG, Winship I, Goldgar DE, Hopper JL, Southey MC.
    • Br J Cancer. 2013 Jul 9;109(1):154-63. doi: 10.1038/bjc.2013.295. Epub 2013 Jun 20.
    • Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.
    • George J, Alsop K, Etemadmoghadam D, Hondow H, Mikeska T, Dobrovic A, deFazio A; Australian Ovarian Cancer Study Group, Smyth GK, Levine DA, Mitchell G, Bowtell DD.
    • Clin Cancer Res. 2013 Jul 1;19(13):3474-84. doi: 10.1158/1078-0432.CCR-13-0066. Epub 2013 Apr 30.

    Research news:

    Genomic signatures of BRCA1 but not BRCA2 associated high-grade serous carcinoma resemble basal-like breast cancer.

    • Clinical-pathologic significance of cancer stem cell marker expression in familial breast cancers.
    • Bane A, Viloria-Petit A, Pinnaduwage D, Mulligan AM, O'Malley FP, Andrulis IL.
    • Breast Cancer Res Treat. 2013 Jul;140(1):195-205. doi: 10.1007/s10549-013-2591-1. Epub 2013 Jun 28.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Breast cancer in women aged 25 years and younger.
    • Dimitrakakis C, Tsigginou A, Zagouri F, Marinopoulos S, Sergentanis TN, Keramopoulos A, Liakou P, Zografos GC, Papadimitriou CA, Dimopoulos MA, Antsaklis A.
    • Obstet Gynecol. 2013 Jun;121(6):1235-40. doi: 10.1097/AOG.0b013e318291ef9a.
    • BRCA1 mutations and luminal-basal transformation.
    • Ng T, Irshad S, Stebbing J.
    • Oncogene. 2013 May 30;32(22):2712-4. doi: 10.1038/onc.2012.379. Epub 2012 Aug 27.
    • Comment

    Germline mutation of Brca1 alters the fate of mammary luminal cells and causes luminal-to-basal mammary tumor transformation.

    • Germline mutation of Brca1 alters the fate of mammary luminal cells and causes luminal-to-basal mammary tumor transformation.
    • Bai F, Smith MD, Chan HL, Pei XH.
    • Oncogene. 2013 May 30;32(22):2715-25. doi: 10.1038/onc.2012.293. Epub 2012 Jul 9.

    Comment:

    BRCA1 mutations and luminal-basal transformation.

    • Prevalence of germline TP53 mutations in HER2+ breast cancer patients.
    • Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE.
    • Breast Cancer Res Treat. 2013 May;139(1):193-8. doi: 10.1007/s10549-012-2375-z. Epub 2013 Apr 12.
    • Genetic susceptibility to triple-negative breast cancer.
    • Stevens KN, Vachon CM, Couch FJ.
    • Cancer Res. 2013 Apr 1;73(7):2025-30. doi: 10.1158/0008-5472.CAN-12-1699. Epub 2013 Mar 27.
    • Lipid metabolism genes in contralateral unaffected breast and estrogen receptor status of breast cancer.
    • Wang J, Scholtens D, Holko M, Ivancic D, Lee O, Hu H, Chatterton RT Jr, Sullivan ME, Hansen N, Bethke K, Zalles CM, Khan SA.
    • Cancer Prev Res (Phila). 2013 Apr;6(4):321-30. doi: 10.1158/1940-6207.CAPR-12-0304. Epub 2013 Mar 19.

    Press: Breast cancer gene test could allow preventive treatment. (The Telegraph)

    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.
    • Ou J, Wu T, Sijmons R, Ni D, Xu W, Upur H.
    • J Breast Cancer. 2013 Mar;16(1):50-4. doi: 10.4048/jbc.2013.16.1.50. Epub 2013 Mar 31.
    • [Expression of BRCA1 and WWOX and their clinicopathologic implication in breast carcinomas occurring in young women].
    • Zhang QL, Zhang QH, Cong H, Zhang XL.
    • Zhonghua Bing Li Xue Za Zhi. 2013 Feb;42(2):90-4. doi: 10.3760/cma.j.issn.0529-5807.2013.02.005.
    • [Article in Chinese]
    • Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.
    • Hsu NC, Huang YF, Yokoyama KK, Chu PY, Chen FM, Hou MF.
    • PLoS One. 2013;8(2):e56256. doi: 10.1371/journal.pone.0056256. Epub 2013 Feb 6.
    • First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.
    • Ripamonti CB, Colombo M, Mondini P, Siranoush M, Peissel B, Bernard L, Radice P, Carcangiu ML.
    • BMC Cancer. 2013 Feb 1;13:46. doi: 10.1186/1471-2407-13-46.
    • VEGF, HIF-1α expression and MVD as an angiogenic network in familial breast cancer.
    • http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053070Saponaro C, Malfettone A, Ranieri G, Danza K, Simone G, Paradiso A, Mangia A.
    • PLoS One. 2013;8(1):e53070. doi: 10.1371/journal.pone.0053070. Epub 2013 Jan 11.
    • Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome.
    • Sanders MA, Dominici L, Denison C, Golshan M, Wiecorek T, Lester SC.
    • Arch Pathol Lab Med. 2013 Jan;137(1):72-6. doi: 10.5858/arpa.2011-0611-OA.
    • Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.
    • Rummel S, Varner E, Shriver CD, Ellsworth RE.
    • Breast Cancer Res Treat. 2013 Jan;137(1):119-25. doi: 10.1007/s10549-012-2348-2. Epub 2012 Nov 29.
    • The penetrance of ductal carcinoma in situ among BRCA1 and BRCA2 mutation carriers.
    • Mazzola E, Cheng SC, Parmigiani G.
    • Breast Cancer Res Treat. 2013 Jan;137(1):315-8. doi: 10.1007/s10549-012-2345-5. Epub 2012 Nov 27.
    • 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.
    • Genetic susceptibility Loci for subtypes of breast cancer in an african american population.
    • Palmer JR, Ruiz-Narvaez EA, Rotimi CN, Cupples LA, Cozier YC, Adams-Campbell LL, Rosenberg L.
    • Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):127-34. doi: 10.1158/1055-9965.EPI-12-0769. Epub 2012 Nov 7.
    • HOX gene methylation status analysis in patients with hereditary breast cancer.
    • Pilato B, Pinto R, De Summa S, Lambo R, Paradiso A, Tommasi S.
    • J Hum Genet. 2013 Jan;58(1):51-3. doi: 10.1038/jhg.2012.118. Epub 2012 Oct 11.
    • Frequency of Triple-Negative Breast Cancer in BRCA1 Mutation Carriers: Comparison Between Common Ashkenazi Jewish and Other Mutations.
    • Tung N, Garber JE, Lincoln A, Domchek SM.
    • J Clin Oncol. 2012 Dec 10;30(35):4447-8. doi: 10.1200/JCO.2012.44.5635. Epub 2012 Oct 22.

    Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.

    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.
    • Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Nov 2;14(6):R142. doi: 10.1186/bcr3347.
    • 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.
    • Pathologic features and immunophenotype of estrogen receptor-positive breast cancers in BRCA1 mutation carriers.
    • Kaplan JS, Schnitt SJ, Collins LC, Wang Y, Garber JE, Montgomery K, West RB, Krag K, Fetten K, Lincoln A, Tung NM.
    • Am J Surg Pathol. 2012 Oct;36(10):1483-8. doi: 10.1097/PAS.0b013e31825789ed.
    • Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry.
    • Dite GS, Makalic E, Schmidt DF, Giles GG, Hopper JL, Southey MC.
    • Breast Cancer Res. 2012 Aug 28;14(4):R122. doi: 10.1186/bcr3248.
    • 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.
    • Comparison of the effects of genetic and environmental risk factors on in situ and invasive ductal breast cancer.
    • Reeves GK, Pirie K, Green J, Bull D, Beral V; For the Million Women Study Collaborators.
    • Int J Cancer. 2012 Aug 15;131(4):930-937. doi: 10.1002/ijc.26460. Epub 2011 Nov 28.
    • Molecular insights on basal-like breast cancer.
    • Valentin MD, da Silva SD, Privat M, Alaoui-Jamali M, Bignon YJ.
    • Breast Cancer Res Treat. 2012 Jul;134(1):21-30. doi: 10.1007/s10549-011-1934-z. Epub 2012 Jan 11.
    • Review
    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • BRACking news on triple-negative/basal-like breast cancers: how BRCA1 deficiency may result in the development of a selective tumor subtype.
    • Santarosa M, Maestro R.
    • Cancer Metastasis Rev. 2012 Jun;31(1-2):131-42. doi: 10.1007/s10555-011-9336-6.
    • Review
    • BRCA2 mutations and triple-negative breast cancer.
    • Meyer P, Landgraf K, Högel B, Eiermann W, Ataseven B.
    • PLoS One. 2012;7(5):e38361. doi: 10.1371/journal.pone.0038361. Epub 2012 May 30.
    • BRCA1 and BRCA2: a common pathway of genome protection but different breast cancer subtypes.
    • Joosse SA.
    • Nat Rev Cancer. 2012 May 24;12(5):372. doi: 10.1038/nrc3181-c2.
    • Letter
    • Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer.
    • Domagala P, Wokolorczyk D, Cybulski C, Huzarski T, Lubinski J, Domagala W.
    • Breast Cancer Res Treat. 2012 Apr;132(3):937-45. Epub 2011 Jun 24.
    • Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.
    • Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Apr;132(2):421-8. doi: 10.1007/s10549-011-1596-x. Epub 2011 May 26.
    • Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
    • Nagel JH, Peeters JK, Smid M, Sieuwerts AM, Wasielewski M, de Weerd V, Trapman-Jansen AM, van den Ouweland A, Brüggenwirth H, van Ijcken WF, Klijn JG, van der Spek PJ, Foekens JA, Martens JW, Schutte M, Meijers-Heijboer H.
    • Breast Cancer Res Treat. 2012 Apr;132(2):439-48. doi: 10.1007/s10549-011-1588-x. Epub 2011 May 26.
    • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.
    • Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.
    • Occurrence of breast cancer subtypes in adolescent and young adult women.
    • Keegan TH, Derouen MC, Press DJ, Kurian AW, Clarke CA.
    • Breast Cancer Res. 2012 Mar 27;14(2):R55.
    • Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.
    • Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT, Arun B.
    • Cancer. 2012 Mar 15;118(6):1515-22. doi: 10.1002/cncr.26428. Epub 2011 Aug 25.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Does anyone have a good reference for the occurence of DCIS in hereditary cancer syndromes?

    • Clinical implications for BRCA gene mutation in breast cancer.
    • Xu J, Wang B, Zhang Y, Li R, Wang Y, Zhang S.
    • Mol Biol Rep. 2012 Mar;39(3):3097-102. doi: 10.1007/s11033-011-1073-y. Epub 2011 Jun 21.
    • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.
    • Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Lee A, Barrowdale D, Healey S, Sinilnikova OM, Caligo MA, Loman N, Harbst K, Lindblom A, Arver B, Rosenquist R, Karlsson P, Nathanson K, Domchek S, Rebbeck T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowowcka-Perłowska E, Osorio A, Durán M, Andrés R, Benítez J, Hamann U, Hogervorst FB, van Os TA, Verhoef S, Meijers-Heijboer HE, Wijnen J, Gómez Garcia EB, Ligtenberg MJ, Kriege M, Collée JM, Ausems MG, Oosterwijk JC, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Rogers MT, Donaldson A, Dorkins H, Godwin AK, Bove B, Stoppa-Lyonnet D, Houdayer C, Buecher B, de Pauw A, Mazoyer S, Calender A, Léoné M, Bressac-de Paillerets B, Caron O, Sobol H, Frenay M, Prieur F, Ferrer SU, Mortemousque I, Buys S, Daly M, Miron A, Terry MU, Hopper JL, John EM, Southey M, Goldgar D, Singer CF, Fink-Retter A, Tea MK, Kaulich DU, Hansen TV, Nielsen FC, Barkardottir RB, Gaudet M, Kirchhoff T, Joseph V, Dutra-Clarke A, Offit K, Piedmonte M, Kirk J, Cohn D, Hurteau J, Byron J, Fiorica J, Toland AE, Montagna M, Oliani C, Imyanitov E, Isaacs C, Tihomirova L, Blanco I, Lazaro C, Teulé A, Valle JD, Gayther SA, Odunsi K, Gross J, Karlan BY, Olah E, Teo SH, Ganz PA, Beattie MS, Dorfling CM, van Rensburg EU, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Muranen TA, Lespérance B, Spurdle AB, Neuhausen SL, Ding YC, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L, Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Loud JT, Andrulis IL, Ozcelik H, Mulligan AU, Glendon G, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Chenevix-Trench G, Couch FJ, Simard J, Easton DF; CIMBA, SWE-BRCA; HEBON; EMBRACE; GEMO Collaborators Study; kConFab Investigators.
    • Breast Cancer Res. 2012 Feb 20;14(1):R33.
    • Pathologic features and molecular phenotype by patient age in a large cohort of young women with breast cancer.
    • Collins LC, Marotti JD, Gelber S, Cole K, Ruddy K, Kereakoglow S, Brachtel EF, Schapira L, Come SE, Winer EP, Partridge AH.
    • Breast Cancer Res Treat. 2012 Feb;131(3):1061-6. doi: 10.1007/s10549-011-1872-9. Epub 2011 Nov 13.
    • Tetraploidy in BRCA2 breast tumours.
    • Jonsdottir AB, Stefansson OA, Bjornsson J, Jonasson JG, Ogmundsdottir HM, Eyfjord JE.
    • Eur J Cancer. 2012 Feb;48(3):305-10. doi: 10.1016/j.ejca.2011.11.008. Epub 2011 Nov 29.
    • 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

    • Basal breast cancer: a complex and deadly molecular subtype.
    • Bertucci F, Finetti P, Birnbaum D.
    • Curr Mol Med. 2012 Jan;12(1):96-110.
    • 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.
    • CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients.
    • Angelova SG, Krasteva ME, Gospodinova ZI, Georgieva EI.
    • Neoplasma. 2012;59(6):622-30. doi: 10.4149/neo_2012_079.