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Advanced Search Results For "BRCA2 Protein"

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    • Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.

    Publication Type: Academic Journal

    Source(s): International journal of gynecological cancer : official journal of the International Gynecological Cancer Society [Int J Gynecol Cancer] 2023 Feb 06; Vol. 33 (2), pp. 257-262. Date of Electronic Publication: 2023 Feb 06.

    Abstract: Objective: To evaluate the role of different specific types of germline breast cancer susceptibility BRCA mutations on the age of onset of high grade serous ovarian cancer.Methods: This was a multicenter, international, retrospective cohort of 474 pati...

    The risks of cancer in older women with BRCA pathogenic variants: How far have we come?

    Publication Type: Academic Journal

    Source(s): Cancer [Cancer] 2023 Mar 15; Vol. 129 (6), pp. 901-907. Date of Electronic Publication: 2022 Dec 26.

    Abstract: Background: The purpose of this study was to estimate the cumulative risks of all cancers in women from 50 to 75 years of age with a BRCA1 or BRCA2 pathogenic variant.Methods: Participants were women with BRCA1 or BRCA2 pathogenic variants from 85 cent...

    A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.

    Publication Type: Academic Journal

    Source(s): Familial cancer [Fam Cancer] 2022 Jul; Vol. 21 (3), pp. 289-294. Date of Electronic Publication: 2021 May 17.

    Abstract: Germline pathogenic variants (PVs) in BRCA1/BRCA2 are well-established risk factors for breast cancer (BC) and/or ovarian cancer (OC). Founder PVs have been described in BRCA1/ BRCA2 in several genetic isolates. The Christian Arab population in the Mid...

    Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.

    Publication Type: Academic Journal

    Source(s): Cancer causes & control : CCC [Cancer Causes Control] 2023 Feb; Vol. 34 (2), pp. 141-149. Date of Electronic Publication: 2022 Nov 12.

    Abstract: Purpose: The prevalence of pathogenic variants in BRCA1 and BRCA2 in populations other than Ashkenazi Jewish (AJ) is not well defined. We describe the racial and ethnic-specific prevalence of BRCA1/2 pathogenic variants and variants of uncertain signif...

    A moving target for drug discovery: Structure activity relationship and many genome (de)stabilizing functions of the RAD52 protein.

    Publication Type: Academic Journal

    Source(s): DNA repair [DNA Repair (Amst)] 2022 Dec; Vol. 120, pp. 103421. Date of Electronic Publication: 2022 Oct 27.

    Abstract: BRCA-ness phenotype, a signature of many breast and ovarian cancers, manifests as deficiency in homologous recombination, and as defects in protection and repair of damaged DNA replication forks. A dependence of such cancers on DNA repair factors less ...

    Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.

    Publication Type: Academic Journal

    Source(s): Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1396-1407. Date of Electronic Publication: 2022 Jul 12.

    Authors:

    Abstract: Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole-exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients and identified 17 rare ge...

    Pentagalloylglucose disrupts the PALB2-BRCA2 interaction and potentiates tumor sensitivity to PARP inhibitor and radiotherapy.

    Publication Type: Academic Journal

    Source(s): Cancer letters [Cancer Lett] 2022 Oct 10; Vol. 546, pp. 215851. Date of Electronic Publication: 2022 Aug 01.

    Authors:

    Abstract: DNA damage repair plays a vital role in maintaining the genomic integrity of cells and has been exploited therapeutically in the treatment of cancer. We have previously demonstrated that the upregulation of CXorf67 in posterior fossa type A ependymoma ...

    Germline Genetic Testing in Breast Cancer: Systemic Therapy Implications.

    Publication Type: Academic Journal

    Source(s): Current oncology reports [Curr Oncol Rep] 2022 Dec; Vol. 24 (12), pp. 1791-1800. Date of Electronic Publication: 2022 Oct 18.

    Abstract: Purpose of Review: In this article, we discuss recent advances in germline genetic testing for patients with breast cancer and highlight current limitations and impacts on clinical care. We also provide an update on the therapeutic implications of havi...

    Discovery and validation of a transcriptional signature identifying homologous recombination-deficient breast, endometrial and ovarian cancers.

    Publication Type: Academic Journal

    Source(s): British journal of cancer [Br J Cancer] 2022 Oct; Vol. 127 (6), pp. 1123-1132. Date of Electronic Publication: 2022 Jun 25.

    Abstract: Background: Molecular alterations leading to homologous recombination deficiency (HRD) are heterogeneous. We aimed to identify a transcriptional profile shared by endometrial (UCEC), breast (BRCA) and ovarian (OV) cancers with HRD.Methods: Genes differ...

    Talking about Risk, UncertaintieS of Testing IN Genetics (TRUSTING): development and evaluation of an educational programme for healthcare professionals about BRCA1 & BRCA2 testing.

    Publication Type: Academic Journal

    Source(s): British journal of cancer [Br J Cancer] 2022 Oct; Vol. 127 (6), pp. 1116-1122. Date of Electronic Publication: 2022 Jun 17.

    Abstract: Background: Mainstreaming of germline testing demands that all healthcare professionals have good communication skills, but few have genetic testing and counselling experience. We developed and evaluated educational workshops-Talking about Risk & Uncer...

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