Advanced Search Results For "BRCA2 Protein genetics"
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Tumour-infiltrating lymphocytes (TILs) and BRCA-like status in stage III breast cancer patients randomised to adjuvant intensified platinum-based chemotherapy versus conventional chemotherapy.
Publication Type: Academic Journal
Source(s): European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2020 Mar; Vol. 127, pp. 240-250. Date of Electronic Publication: 2020 Jan 16.
Abstract: Background: The prognostic value of tumour-infiltrating lymphocytes (TILs) differs by breast cancer (BC) subtype. The aim of this study was to evaluate TILs in stage III BC in the context of BRCA1/2-like phenotypes and association with outcome and bene...
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...
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 75Â 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...
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.
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...
Gene of the month: PALB2.
Publication Type: Academic Journal
Source(s): Journal of clinical pathology [J Clin Pathol] 2023 Feb; Vol. 76 (2), pp. 73-75. Date of Electronic Publication: 2022 Dec 07.
Abstract: The partner and localiser of BRCA2 (PALB2) gene, located on chromosome 16, functions as a tumour suppressor that plays a critical role in homologous recombination repair after DNA double-strand breaks. It encodes proteins involved in the BRCA2 and BRCA...
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...
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...
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Publication Type: Academic Journal
Source(s): PloS one [PLoS One] 2023 Feb 08; Vol. 18 (2), pp. e0278010. Date of Electronic Publication: 2023 Feb 08 (Print Publication: 2023).
Abstract: There have been many surveys of genetic variation in BRCA1 and BRCA2 to identify variant prevalence and catalogue population specific variants, yet none have evaluated the magnitude of unobserved variation. We applied species richness estimation method...