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    Original research:

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    Research news: NHS gene testing misses half of people at risk of cancer, study warns. (Sky News)

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    Editorial:

    Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

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    Commentary:

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

    • Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.
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    • Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
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    • Press, Conference report

    Original research:

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

    • Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
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    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
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    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

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    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
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    • Review
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    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
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    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
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    • Letter, Comment

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer—Reply

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
    • Colas C, De Pauw A, Golmard L.
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    • Letter, Comment

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer-Reply.

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

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    • Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives.
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    • Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.
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    • Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.
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    • Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
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    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

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    • Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
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    • J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.

    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

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    Letter, Comment:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.

    Letter, Comment:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer-Reply.

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    • Podcast

    Original research:

    Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

    • Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer.
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    • J Hum Genet. 2020 Jan 6. doi: 10.1038/s10038-019-0713-2. [Epub ahead of print]
    • Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
    • Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE.
    • Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1.
    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
    • Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M.
    • Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.
    • Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
    • Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE.
    • Genet Med. 2019 Dec 19. doi: 10.1038/s41436-019-0729-1. [Epub ahead of print]

    Podcast: Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history (Genetics in Medicine Genepod)

    • How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
    • Brédart A, Dick J, Cano A, Robieux L, De Pauw A, Schmutzler R, Stoppa-Lyonnet D, Dolbeault S, Kop JL.
    • Psychooncology. 2019 Dec 11. doi: 10.1002/pon.5302. [Epub ahead of print]
    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
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    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

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    Research news: Study: Racial and ethnic differences in genetic testing among young breast cancer survivors. (FORCE. XRAYS.)

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    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

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    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
    • Taylor A, Tischkowitz M.
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    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

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    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • Mainstreamed genetic testing for women with ovarian cancer: first-year experience.
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    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

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    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

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    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)

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    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

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    • [No author given]
    • FORCE. XRAYS. 2018 Jun 28.

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

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    Press: Many Breast Cancer Patients Not Receiving Genetic Evaluation. (Medscape)

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    Commentary:

    Attention: Direct-To-Consumer patrons: Proceed with caution.

    Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)

    Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)

    Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)

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    Commentary:

    Genetic Testing for Prostate Cancer in Clinical Practice.

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    Letter:

    Patients with negative multi-gene panel testing: a back to the future paradox?

    Letter:

    Placing negative multi-gene panel results into clinical context.

    • Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
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    • Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
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    • Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
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    • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.
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    Letter:

    Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.

    Letter:

    Reply to R. Nussbaum et al and J. Dolinsky et al.

    • Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
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    • Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
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    • Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.
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    • Reevaluation of RINT1 as a breast cancer predisposition gene.
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    • Germline mutations of BRCA1 gene exon 11 are not associated with platinum response neither with survival advantage in patients with primary ovarian cancer: understanding the clinical importance of one of the biggest human exons. A study of the Tumor Bank Ovarian Cancer (TOC) Consortium.
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    • Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
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    • PLoS Genet. 2016 Aug 9;12(8):e1006248. doi: 10.1371/journal.pgen.1006248. eCollection 2016.
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
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    • Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.
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    • First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.
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    • Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis.
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    • Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
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    • Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
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    • Implementation of a risk assessment program in a breast-imaging community practice.
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    • Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.
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    • BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.
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    • Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.
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    • Patterns and functional implications of rare germline variants across 12 cancer types.
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    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

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    • [Article in Czech]
    • Mutation analysis of PALB2 gene in French breast cancer families.
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    • RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
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    • Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.
    • Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, Perez M, Mitchell J, Roberson D, Jones K, Lee HJ, Eggebeen R, Sawitzke J, Bass S, Zhang X, Robles V, Hollis C, Barajas C, Rath E, Arentz C, Figueroa JA, Nguyen DD, Nahleh Z.
    • Gigascience. 2015 Nov 4;4:50. doi: 10.1186/s13742-015-0088-z. eCollection 2015.
    • Genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Lerner-Ellis J, Khalouei S, Sopik V, Narod SA.
    • Expert Rev Anticancer Ther. 2015 Nov;15(11):1315-26. doi: 10.1586/14737140.2015.1090879. Epub 2015 Nov 2.
    • Review
    • Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.
    • Frey MK, Kim SH, Bassett RY, Martineau J, Dalton E, Chern JY, Blank SV.
    • Gynecol Oncol. 2015 Nov;139(2):211-215. doi: 10.1016/j.ygyno.2015.08.006. Epub 2015 Aug 18.
    • PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.
    • Li YT, Jiang WH, Wang XW, Zhang MS, Zhang CG, Yi LN, WuwaliKhan F, Ayoufu A, Ou JH.
    • Eur J Med Res. 2015 Oct 21;20(1):85. doi: 10.1186/s40001-015-0182-9.
    • Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.
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    • Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
    • Howarth DR, Lum SS, Esquivel P, Garberoglio CA, Senthil M, Solomon NL.
    • Am Surg. 2015 Oct;81(10):941-4.
    • Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
    • Kapoor NS, Curcio LD, Blakemore CA, Bremner AK, McFarland RE, West JG, Banks KC.
    • Ann Surg Oncol. 2015 Oct;22(10):3282-8. doi: 10.1245/s10434-015-4754-2. Epub 2015 Jul 29.
    • Clinical Application of Multigene Panels: Challenges of Next-Generation Counseling and Cancer Risk Management.
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    • Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
    • Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP.
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    • Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.
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    • Letter
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
    • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.
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    Editorial

    Next Generation Multigene Panel Testing: The Next Step for Identification of Hereditary Colorectal Cancer Syndromes?

    • A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.
    • Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW.
    • J Mol Diagn. 2015 Sep;17(5):533-44. doi: 10.1016/j.jmoldx.2015.04.009. Epub 2015 Jul 22.
    • Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Oyama T, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Sep;3(5):459-66. doi: 10.1002/mgg3.157. Epub 2015 May 12.
    • A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.
    • Hadiji-Abbes N, Trifa F, Choura M, Khabir A, Sellami-Boudawara T, Frikha M, Daoud J, Mokdad-Gargouri R.
    • Pathol Biol (Paris). 2015 Sep;63(4-5):185-9. doi: 10.1016/j.patbio.2015.07.009. Epub 2015 Aug 29.
    • Case report
    • Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
    • Maxwell KN, Wubbenhorst B, D'Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL.
    • Genet Med. 2015 Aug;17(8):630-638. doi: 10.1038/gim.2014.176. Epub 2014 Dec 11.
    • Testing for Hereditary Breast Cancer: Panel or Targeted Testing? Experience from a Clinical Cancer Genetics Practice.
    • Doherty J, Bonadies DC, Matloff ET.
    • J Genet Couns. 2015 Aug;24(4):683-7. doi: 10.1007/s10897-014-9796-2. Epub 2014 Dec 5.
    • Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
    • Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP.
    • Hum Genomics. 2015 Jun 20;9:12. doi: 10.1186/s40246-015-0034-2.
    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • New Study on 'Very Hot Topic' in BRCA Testing.
    • Roxanne Nelson.
    • Medscape Medical News. American Society of Breast Surgeons (ASBS) 16th Annual Meeting. 2015 May 4.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer.
    • Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.
    • J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.
    • Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.
    • Kurian AW, Kingham KE, Ford JM.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):23-33. doi: 10.1097/GCO.0000000000000141.
    • Review
    • Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
    • Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L.
    • BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3.
    • Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
    • Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.
    • Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.
    • Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
    • Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
    • EBioMedicine. 2015 Jan;2(1):74-81.
    • Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations.
    • Maier C, Herkommer K, Luedeke M, Rinckleb A, Schrader M, Vogel W.
    • Prostate. 2014 Oct;74(14):1444-51. doi: 10.1002/pros.22860. Epub 2014 Aug 11.
    • Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
    • Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M, Tomiak E, Foulkes WD.
    • Hered Cancer Clin Pract. 2014 Aug 28;12(1):19. doi: 10.1186/1897-4287-12-19. eCollection 2014.
    • 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.
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Comment, Editorial:

    Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.

    Press: Multiple-Gene Sequencing Panel Assesses Hereditary Cancer Risk. (Medscape/Reuters)

    Press: Study Supports Clinical Utility of Gene Panel Sequencing Approach. (GenomeWeb)

    Blog post: Gene panel screens dozens of genes for cancer-associated mutations. (ScienceBlog)

    • Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
    • Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE.
    • Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2.

    Comment:

    BluepRINT for moderate-to-low penetrance cancer susceptibility genes needed: breast cancer and beyond.

    • Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.
    • Rashid MU, Muhammad N, Faisal S, Amin A, Hamann U.
    • Breast Cancer Res Treat. 2014 Jun;145(3):775-84. doi: 10.1007/s10549-014-2972-0. Epub 2014 May 7.
    • MUTATION ANALYSIS FOR BRIP1 IN KOREAN PATIENTS WITH BRCA1/2 MUTATIONS-NEGATIVE HIGH-RISK BREAST CANCER.
    • H. Kim, D. Cho, D.H. Choi, W. Park, S.J. Huh.
    • Ann Oncol (2014 May) 25 (suppl 1): i6-i7. doi: 10.1093/annonc/mdu065.7. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract
    • Pathogenicity Evaluation of BRCA1 and BRCA2 Unclassified Variants Identified in Portuguese Breast/Ovarian Cancer Families.
    • Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR.
    • J Mol Diagn. 2014 May;16(3):324-34. doi: 10.1016/j.jmoldx.2014.01.005. Epub 2014 Mar 5.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
    • Balabanski L, Antov G, Dimova I, Ivanov S, Nacheva M, Gavrilov I, Nesheva D, Rukova B, Hadjidekova S, Malinov M, Toncheva D.
    • Mol Clin Oncol. 2014 May;2(3):435-439. Epub 2014 Feb 4.
    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Genetic predisposition to breast cancer: The next chapters.
    • Boyd J.
    • Cancer. 2014 Apr 1;120(7):932-4. doi: 10.1002/cncr.28503. Epub 2014 Jan 10.

    Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

    • Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
    • Fernandes PH, Saam J, Peterson J, Hughes E, Kaldate R, Cummings S, Theisen A, Chen S, Trost J, Roa BB.
    • Cancer. 2014 Apr 1;120(7):963-7. doi: 10.1002/cncr.28504. Epub 2014 Jan 10.

    Editorial, Commentary:

    Genetic predisposition to breast cancer: The next chapters.

    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
    • Bonache S, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.
    • Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31.
    • Germline mutation in the RAD51B gene confers predisposition to breast cancer.
    • Golmard L1, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D.
    • BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.
    • Can Unknown Predisposition in Familial Breast Cancer be Family-Specific?
    • Lynch H, Wen H, Kim YC, Snyder C, Kinarsky Y, Chen PX, Xiao F, Goldgar D, Cowan KH, Wang SM.
    • Breast J. 2013 Sep;19(5):520-8. doi: 10.1111/tbj.12145. Epub 2013 Jun 26.
    • Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
    • Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M.
    • BMC Cancer. 2013 May 17;13:243. doi: 10.1186/1471-2407-13-243.
    • Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
    • Stavropoulou AV1, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, Triantafyllidou O, Bamias A, Dimopoulos MA, Timotheadou E, Pectasides D, Christodoulou C, Klouvas G, Papadimitriou C, Makatsoris T, Pentheroudakis G, Aravantinos G, Karydakis V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • PLoS One. 2013;8(3):e58182. doi: 10.1371/journal.pone.0058182. Epub 2013 Mar 11.

    Erratum: Correction: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases. (PLoS ONE)

    • Early Onset Breast Cancer in a Registry-based Sample of African-American Women: BRCA Mutation Prevalence, and Other Personal and System-level Clinical Characteristics.
    • Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST.
    • Breast J. 2013 Mar;19(2):189-92. doi: 10.1111/tbj.12083. Epub 2013 Jan 16.

    Press: Young, Black, Female Breast Cancer Patients Need Genetic Risk Strategies. (Medical News Today)

    • Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling.
    • Hilbers FS, Meijers CM, Laros JF, van Galen M, Hoogerbrugge N, Vasen HF, Nederlof PM, Wijnen JT, van Asperen CJ, Devilee P.
    • PLoS One. 2013;8(1):e55734. doi: 10.1371/journal.pone.0055734. Epub 2013 Jan 31.
    • Analysis of the Novel Fanconi Anemia Gene SLX4/FANCP in Familial Breast Cancer Cases.
    • Bakker JL, van Mil SE, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, Adank M, Gille H, Verheul H, Meijers-Heijboer H, de Winter JP, Claes K, Tischkowitz M, Waisfisz Q.
    • Hum Mutat. 2013 Jan;34(1):70-3. doi: 10.1002/humu.22206. Epub 2012 Oct 11.
    • Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.
    • Kooshyar MM, Nassiri M, Mahdavi M, Doosti M, Parizadeh A.
    • Asian Pac J Cancer Prev. 2013;14(7):4339-45.
    • Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
    • Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ.
    • Int J Med Sci. 2013;10(1):60-7. doi: 10.7150/ijms.5014. Epub 2012 Dec 10.
    • BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
    • Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
    • Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
    • Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
    • Lu W, Wang X, Lin H, Lindor NM, Couch FJ.
    • Fam Cancer. 2012 Sep;11(3):381-5. doi: 10.1007/s10689-012-9523-9.
    • Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
    • Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.
    • Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
    • Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A.
    • Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7.
    • BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
    • Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.
    • Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.
    • Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
    • Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C.
    • PLoS One. 2012;7(5):e37432. doi: 10.1371/journal.pone.0037432. Epub 2012 May 24.
    • Germline BRCA1 mutations increase prostate cancer risk.
    • Leongamornlert D, Mahmud N, Tymrakiewicz M, Saunders E, Dadaev T, Castro E, Goh C, Govindasami K, Guy M, O'Brien L, Sawyer E, Hall A, Wilkinson R, Easton D; UKGPCS Collaborators, Goldgar D, Eeles R, Kote-Jarai Z.
    • Br J Cancer. 2012 May 8;106(10):1697-701. doi: 10.1038/bjc.2012.146.

    Press: BRCA1 mutations increase risk of prostate cancer. (Lancet Oncology)

    Press: Breast cancer gene increases prostate cancer risk four-fold: research. (The Telegraph)

    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
    • De Leeneer K, Van Bockstal M, De Brouwer S, Swietek N, Schietecatte P, Sabbaghian N, Van den Ende J, Willocx S, Storm K, Blaumeiser B, Van Asperen CJ, Wijnen JT, Leunen K, Legius E, Michils G, Matthijs G, Blok MJ, Gomez-Garcia E, De Paepe A, Tischkowitz M, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 May;133(1):393-8. doi: 10.1007/s10549-012-1998-4. Epub 2012 Feb 28.
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
    • Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.
    • Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.
    • Rare mutations in XRCC2 increase the risk of breast cancer.
    • Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC.
    • Am J Hum Genet. 2012 Apr 6;90(4):734-9. doi: 10.1016/j.ajhg.2012.02.027. Epub 2012 Mar 29.

    Press: A new breast cancer susceptibility gene/ (EurekAlert!)

    • Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
    • Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; The WECARE Study Collaborative Group, Bernstein JL, Begg CB.
    • Hum Mutat. 2012 Apr;33(4):674-680. doi: 10.1002/humu.22022. Epub 2012 Feb 15.
    • Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
    • Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA.
    • BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84.
    • Novel germline PALB2 truncating mutations in African American breast cancer patients.
    • Zheng Y, Zhang J, Niu Q, Huo D, Olopade OI.
    • Cancer. 2012 Mar 1;118(5):1362-70. doi: 10.1002/cncr.26388. Epub 2011 Aug 26.
    • Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
    • de Juan Jiménez I, Esteban Cardeñosa E, Palanca Suela S, Barragán González E, Aznar Carretero I, Munárriz Gandía B, Santaballa Bertran A, Torregrosa Maicas MD, Guillén Ponce C, Sánchez Heras AB, Bayón Lara A, Fuster Lluch O, Bolufer Gilabert P.
    • Fam Cancer. 2012 Mar;11(1):49-56. doi: 10.1007/s10689-011-9481-7.
    • Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
    • Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P.
    • PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23.
    • Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
    • Blanco A, de la Hoya M, Balmaña J, Ramón y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Díez O, Carracedo A, Caldés T, Vega A.
    • Breast Cancer Res Treat. 2012 Feb;132(1):307-15. doi: 10.1007/s10549-011-1842-2. Epub 2011 Nov 4.
    • Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
    • Kuo WH, Lin PH, Huang AC, Chien YH, Liu TP, Lu YS, Bai LY, Sargeant AM, Lin CH, Cheng AL, Hsieh FJ, Hwu WL, Chang KJ.
    • J Hum Genet. 2012 Feb;57(2):130-8. doi: 10.1038/jhg.2011.142. Epub 2012 Jan 26.
    • Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.
    • Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied AB, Hassen E, Chouchane L.
    • Mol Biol Rep. 2012 Feb;39(2):1037-46. doi: 10.1007/s11033-011-0829-8. Epub 2011 May 21.
    • Cancer predisposing BARD1 mutations in breast-ovarian cancer families.
    • Ratajska M, Antoszewska E, Piskorz A, Brozek I, Borg Å, Kusmierek H, Biernat W, Limon J.
    • Breast Cancer Res Treat. 2012 Jan;131(1):89-97. doi: 10.1007/s10549-011-1403-8. Epub 2011 Feb 23.
    • BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.
    • Lara K, Consigliere N, Pérez J, Porco A.
    • Biol Res. 2012;45(2):117-30. doi: 10.4067/S0716-97602012000200003.
    • BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
    • Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.
    • Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.