Hereditary breast cancer genetics
-
Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions.
15p viellison 28-03-2024 4 2 Download
-
Pathogenic germline variants (PGVs) in certain genes are linked to higher lifetime risk of developing breast cancer and can influence preventive surgery decisions and therapy choices. Public health programs ofer genetic screening based on criteria designed to assess personal risk and identify individuals more likely to carry PGVs, dividing patients into screened and non-screened groups.
20p vicwell 29-02-2024 7 1 Download
-
includes content: Gross anatomy of the breast and axilla, breast cancer epidemiology, hereditary breast cancer genetics and risk prediction techniques, screening for high-familial- risk women, ductal carcinoma in situ,… and other contents. Invite you to consult the details.
318p longtimenosee03 01-02-2024 3 0 Download
-
Genetic screening for pathogenic variants (PVs) in cancer predisposition genes can afect treatment strategies, risk prediction and preventive measures for patients and families.
12p vioracle 29-09-2023 6 2 Download
-
The genetic testing for hereditary breast cancer that is most helpful in high-risk women is underused. Our objective was to quantify the risk factors for heritable breast and ovarian cancer contained in the electronic health record (EHR), to determine how many women meet national guidelines for referral to a cancer genetics professional but have no record of a referral.
7p vighostrider 25-05-2023 2 2 Download
-
Carrying a pathogenic BRCA1/2 variant increases greatly young women’s risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania. Methods: Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.
9p vikolindagrabar 27-07-2022 4 1 Download
-
Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear. In Poland, 20 founder mutations in BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL are responsible for the majority of hereditary breast cancer cases in women, but the utility this genes panel has not been tested in men.
8p vimahuateng 26-11-2021 9 1 Download
-
An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer.
9p vimahuateng 26-11-2021 5 1 Download
-
Current knowledge of the aetiology of hereditary breast cancer in the four main South African population groups (black, coloured, Indian and white) is limited. Risk assessments in the black, coloured and Indian population groups are challenging because of restricted information regarding the underlying genetic contributions to inherited breast cancer in these populations.
10p vimoscow2711 29-08-2020 6 1 Download
-
The purpose of this study was to evaluate socio-demographic characteristics of clients claiming genetic counseling for hereditary breast and ovarian cancer (HBOC) in Austria. Furthermore, changes of these parameters before and after Angelina Jolie’s (AJ) disclosure of carrying a BRCA mutation were evaluated.
9p vinaypyidaw2711 26-08-2020 8 2 Download
-
Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant inherited cancer susceptibility disorder. Both BRCA1 and BRCA2 genes are considered as high penetrance genes of this syndrome. The identification of BRCA1/2 genetic alterations before cancer development, grant patients the chance to benefit from various medical cancer prevention approaches.
11p vimale2711 21-08-2020 9 1 Download
-
The ‘common variant, common disease’ model predicts that a significant component of hereditary breast cancer unexplained by pathogenic variants in moderate or high-penetrance genes is due to the cumulative effect of common risk variants in DNA (polygenic risk).
11p vidhaka2711 31-07-2020 11 2 Download
-
Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) predisposition have been shown to play a role in pancreatic cancer susceptibility.
9p vibaku2711 22-07-2020 10 2 Download
-
There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline BRCA1 and BRCA2 (gBRCA) mutations.
6p vibaku2711 22-07-2020 8 1 Download
-
The BRCA1/2 mutation profile varies in Spain according to the geographical area studied. The mutational profile of BRCA1/2 in families at risk for hereditary breast and ovarian cancer has not so far been reported in Andalusia (southern Spain).
12p vibaku2711 22-07-2020 22 2 Download
-
Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families.
19p vikuala271 13-06-2020 6 0 Download
-
If several family members have had colon or endometrial cancer, you might want to think about having genetic counseling to learn about your family’s risk of having hereditary nonpolyposis colon cancer (HNPCC). If you (or a close relative) have genetic testing and are found to have a change in one of the genes for HNPCC, you have a high risk of getting endometrial cancer. To find out more about genetic testing, please see our document, Genetic Testing: What You Need to Know. The American Cancer Society recommends that women who have (or may have) HNPCC be offered yearly testing with...
8p taisaokhongthedung 09-01-2013 52 2 Download
-
Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes.
5p konheokonmummim 03-12-2010 88 6 Download