Item Type | Name |
Concept
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Mutation
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Concept
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Germ-Line Mutation
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Concept
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Mutation, Missense
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Concept
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Mutation Rate
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Academic Article
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Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer.
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Academic Article
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Effect of smoking on breast cancer in carriers of mutant BRCA1 or BRCA2 genes.
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Academic Article
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Genetics in clinical cancer care--the future is now.
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Academic Article
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Computerized analysis of mammographic parenchymal patterns for breast cancer risk assessment: feature selection.
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Academic Article
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Evidence of a founder BRCA1 mutation in Scotland.
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Academic Article
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Cancer genetics in oncology practice.
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Academic Article
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Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.
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Academic Article
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Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.
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Academic Article
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Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191. Online.
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Academic Article
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Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations.
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Academic Article
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Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.
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Academic Article
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Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations.
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Academic Article
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Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer.
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Academic Article
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Gene-expression profiles in hereditary breast cancer.
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Academic Article
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Computerized analysis of digitized mammograms of BRCA1 and BRCA2 gene mutation carriers.
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Academic Article
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Predisposition testing for inherited breast cancer.
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Academic Article
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Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.
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Academic Article
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BRCA2 T2722R is a deleterious allele that causes exon skipping.
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Academic Article
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Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
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Academic Article
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MYC is amplified in BRCA1-associated breast cancers.
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Academic Article
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Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.
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Academic Article
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Computerized analysis of mammographic parenchymal patterns for assessing breast cancer risk: effect of ROI size and location.
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Academic Article
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Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Breast cancer genetics in African Americans.
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Academic Article
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Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Breast cancer and race: a rising tide does not lift all boats equally.
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Academic Article
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Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
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Academic Article
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Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
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Academic Article
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How often do BRCA mutation carriers tell their young children of the family's risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults.
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Academic Article
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Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.
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Academic Article
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Computerized texture analysis of mammographic parenchymal patterns of digitized mammograms.
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Academic Article
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Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.
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Academic Article
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Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry.
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Academic Article
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Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study.
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Academic Article
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Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer.
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Academic Article
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Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
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Academic Article
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The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features.
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Academic Article
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Fractal analysis of mammographic parenchymal patterns in breast cancer risk assessment.
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Academic Article
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Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.
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Academic Article
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Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations.
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Academic Article
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Rapid progression of prostate cancer in men with a BRCA2 mutation.
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Academic Article
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Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type.
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Academic Article
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Learning of your parent's BRCA mutation during adolescence or early adulthood: a study of offspring experiences.
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Academic Article
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Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States.
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Academic Article
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Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
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Academic Article
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Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
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Academic Article
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Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers.
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Academic Article
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Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.
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Academic Article
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.
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Academic Article
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Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer.
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Academic Article
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Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.
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Academic Article
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Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations.
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Academic Article
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RASSF1A polymorphism A133S is associated with early onset breast cancer in BRCA1/2 mutation carriers.
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Academic Article
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Uptake and timing of bilateral prophylactic salpingo-oophorectomy among BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Germline mutational analysis of the C19orf62 gene in African-American women with breast cancer.
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Academic Article
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring.
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Academic Article
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Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.
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Academic Article
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Genetic determinants of breast cancer risk: a review of current literature and issues pertaining to clinical application.
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Academic Article
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Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry.
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Academic Article
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Novel germline PALB2 truncating mutations in African American breast cancer patients.
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Academic Article
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Risk assessment and genetic testing for ovarian cancer.
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Academic Article
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Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes.
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Academic Article
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Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
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Academic Article
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Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Performance of Lynch syndrome predictive models in a multi-center US referral population.
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Academic Article
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Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma.
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Academic Article
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High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
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Academic Article
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p16 alterations and deletion mapping of 9p21-p22 in malignant mesothelioma.
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Academic Article
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BRCA2 mutation and the risk of hematologic malignancy.
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Academic Article
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A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.
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Academic Article
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RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies.
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Academic Article
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Evidence for an ancient BRCA1 mutation in breast cancer patients of Yoruban ancestry.
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Academic Article
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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.
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Academic Article
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Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Lack of evidence for a polymorphism at codon 160 of human O6-alkylguanine-DNA alkyltransferase gene in normal tissue and cancer.
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Academic Article
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Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives.
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Academic Article
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Direct-to-consumer marketing of genetic tests for cancer: buyer beware.
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Academic Article
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The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers.
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Academic Article
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Genetic testing in diverse populations: are researchers doing enough to get out the correct message?
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Academic Article
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Parent opinions regarding the genetic testing of minors for BRCA1/2.
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Academic Article
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Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.
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Academic Article
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Is screening with magnetic resonance imaging in BRCA mutation carriers a safe and effective alternative to prophylactic mastectomy?
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Academic Article
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RON (MST1R) is a novel prognostic marker and therapeutic target for gastroesophageal adenocarcinoma.
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Academic Article
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Early onset HER2-positive breast cancer is associated with germline TP53 mutations.
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Academic Article
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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
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Academic Article
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
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Academic Article
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Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy?
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Academic Article
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Molecular phenotype predicts sensitivity of squamous cell carcinoma of the head and neck to epidermal growth factor receptor inhibition.
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Academic Article
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Relationships between computer-extracted mammographic texture pattern features and BRCA1/2 mutation status: a cross-sectional study.
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Academic Article
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Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Inherited predisposition to breast cancer among African American women.
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Academic Article
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Triple negative breast cancer in BRCA1 mutation carriers with a complete radiologic response to neoadjuvant paclitaxel: a case report.
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Academic Article
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Tumor genome analysis includes germline genome: are we ready for surprises?
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Academic Article
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
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Academic Article
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Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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MYC overexpression and poor prognosis in sporadic breast cancer with BRCA1 deficiency.
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Academic Article
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
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Academic Article
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation.
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Academic Article
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An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
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Academic Article
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Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.
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Academic Article
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Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
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Academic Article
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Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.
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Academic Article
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
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Academic Article
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
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Academic Article
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Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.
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Academic Article
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Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
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Academic Article
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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
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Academic Article
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Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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Academic Article
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Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.
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Academic Article
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Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
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Academic Article
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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
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Academic Article
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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
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Academic Article
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Pancreatic cancer and BRCA mutation in familial breast cancer families.
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Academic Article
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Loss of BRCA1 in the Cells of Origin of Ovarian Cancer Induces Glycolysis: A Window of Opportunity for Ovarian Cancer Chemoprevention.
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Academic Article
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
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Academic Article
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Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.
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Academic Article
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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
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Academic Article
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CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations.
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Academic Article
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Inherited Breast Cancer in Nigerian Women.
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Academic Article
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Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
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Academic Article
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Mutations in context: implications of BRCA testing in diverse populations.
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Academic Article
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Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features.
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Academic Article
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
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Academic Article
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Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers.
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Academic Article
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
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Academic Article
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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
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Academic Article
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Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
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Academic Article
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Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.
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Grant
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UChicago Interdisciplinary Cancer Health Disparities SPORE
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Academic Article
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BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
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Academic Article
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Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
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Academic Article
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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
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Academic Article
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The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
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Academic Article
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Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.
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Academic Article
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USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan.
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Academic Article
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Intrinsic adriamycin resistance in p53-mutated breast cancer is related to the miR-30c/FANCF/REV1-mediated DNA damage response.
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Academic Article
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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
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Academic Article
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Gain-of-Function Mutant p53 R273H Interacts with Replicating DNA and PARP1 in Breast Cancer.
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Academic Article
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Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
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Academic Article
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Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon.
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Academic Article
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Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015.
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Academic Article
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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
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Academic Article
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
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Academic Article
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
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Academic Article
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Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.
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Academic Article
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The impact of site-specific digital histology signatures on deep learning model accuracy and bias.
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Academic Article
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Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes.
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Academic Article
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Differences in somatic TP53 mutation type in breast tumors by race and receptor status.
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Concept
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Gain of Function Mutation
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Grant
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CHARACTERIZATION OF A TUMOR SUPPRESSOR GENE ON 9P
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Grant
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Genetics of Breast Cancer in Blacks
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Academic Article
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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.
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Academic Article
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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
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Academic Article
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Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
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Academic Article
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Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal.
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Academic Article
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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
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Academic Article
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Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
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Academic Article
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Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation.
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Academic Article
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The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
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Academic Article
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Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers.
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Academic Article
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Physical Activity During Adolescence and Early-adulthood and Ovarian Cancer Among Women with a BRCA1 or BRCA2 Mutation.
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