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| 36162533 | Full-Thickness Macular Hole: Are Supra-RPE Granular Deposits Remnants of Photoreceptors Outer Segments? Clinical Implications. | Am J Ophthalmol | 2023 |
| 37503126 | Understanding the genetic complexity of puberty timing across the allele frequency spectrum. | medRxiv | 2023 |
| 37025588 | A novel <i>BRCA1</i> splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in <i>ATM</i>: A case report. | Front Oncol | 2023 |
| 37451831 | Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. | J Med Genet | 2023 |
| 37444426 | Spectrum and Frequency of Germline <i>FANCM</i> Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases. | Cancers (Basel) | 2023 |
| 37168384 | Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight <i>BRCA1</i> variants of uncertain significance by integrating available functional data with protein interaction assays. | Front Oncol | 2023 |
| 37262986 | Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study. | Eur J Cancer | 2023 |
| 36707629 | FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. | Eur J Hum Genet | 2023 |
| 36824750 | Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. | Res Sq | 2023 |
| 34320204 | Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. | J Natl Cancer Inst | 2022 |
| 35585550 | Breast cancer risks associated with missense variants in breast cancer susceptibility genes. | Genome Med | 2022 |
| 35356420 | The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to <i>BRCA1/2</i> Variant Type. | Front Genet | 2022 |
| 36205748 | Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. | Genet Med | 2022 |
| 35933885 | Incorporating progesterone receptor expression into the PREDICT breast prognostic model. | Eur J Cancer | 2022 |
| 36328784 | Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. | Br J Sports Med | 2022 |
| 36284197 | Gene expression-based dissection of inter-histotypes, intra-histotype and intra-tumor heterogeneity in pediatric tumors. | Sci Rep | 2022 |
| 34906479 | Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. | Genet Med | 2022 |
| 35084436 | Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes. | JAMA Oncol | 2022 |
| 35340755 | Evidence-based efficacy of methotrexate in adult Crohn's disease in different intestinal and extraintestinal indications. | Therap Adv Gastroenterol | 2022 |
| 34666080 | A nationwide study of air pollution from particulate matter and daily hospitalizations for respiratory diseases in Italy. | Sci Total Environ | 2022 |
| 32613861 | Standardized scleral buckling approach in the management of noncomplex primary rhegmatogenous retinal detachment. | Eur J Ophthalmol | 2021 |
| 33573335 | Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy. | Cancers (Basel) | 2021 |
| 34611289 | Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. | Sci Rep | 2021 |
| 33990587 | Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. | Nat Commun | 2021 |
| 34100114 | Malignant salivary gland tumours in families with breast cancer susceptibility. | Virchows Arch | 2021 |
| 34069208 | Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? | Cancers (Basel) | 2021 |
| 34341517 | Mendelian randomisation study of smoking exposure in relation to breast cancer risk. | Br J Cancer | 2021 |
| 34198301 | Microscope-Assisted Episcleral Surgery with Encircling Buckles and Chandelier Endoillumination for Primary Rhegmatogenous Retinal Detachment in Phakic and Pseudophakic Patients: A 12-Month Comparative Study. | Ophthalmologica | 2021 |
| 34336265 | OCT Biomarkers in Neovascular Age-Related Macular Degeneration: A Narrative Review. | J Ophthalmol | 2021 |
| 33281191 | Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse. | Cancer Gene Ther | 2021 |
| 33471991 | Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | N Engl J Med | 2021 |
| 33022221 | Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk. | Am J Hum Genet | 2020 |
| 31723001 | Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness. | Cancer Res | 2020 |
| 33266155 | BRCA1/2 Variants and Metabolic Factors: Results From a Cohort of Italian Female Carriers. | Cancers (Basel) | 2020 |
| 30613976 | Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy. | Int J Cancer | 2019 |
| 30135485 | Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. | Eur J Hum Genet | 2019 |
| 29945896 | Premacular membrane formation after scleral buckling for primary rhegmatogenous retinal detachment: prospective study and pathophysiological insights. | Br J Ophthalmol | 2019 |
| 31213659 | Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. | Br J Cancer | 2019 |
| 31176273 | Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives. | Crit Rev Oncol Hematol | 2019 |
| 31548585 | Publisher Correction: Shared heritability and functional enrichment across six solid cancers. | Nat Commun | 2019 |
| 31336362 | Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. | Endocr Connect | 2019 |
| 30737679 | The association between weight at birth and breast cancer risk revisited using Mendelian randomisation. | Eur J Epidemiol | 2019 |
| 30832263 | Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of <i>BRCA1/2</i> Variants of Uncertain Significance. | Cancers (Basel) | 2019 |
| 30962250 | Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. | J Med Genet | 2019 |
| 30683880 | Shared heritability and functional enrichment across six solid cancers. | Nat Commun | 2019 |
| 30312457 | Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. | J Natl Cancer Inst | 2019 |
| 30696104 | GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes. | Cancers (Basel) | 2019 |
| 28837162 | Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. | Genet Med | 2018 |
| 29915430 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. | Nat Genet | 2018 |
| 30204945 | BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. | Hum Mutat | 2018 |