Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions

Conclusions: Non-BRCA gene mutations are frequently identified in breast cancer patients with high risk factors. Family history showed a correlation with both BRCA (p = 0.005) and non-BRCA HRR gene mutation status (p = 0.036), so we strongly suggest that breast cancer patients with a BRCA-related family history receive comprehensive gene mutation testing in China, especially HRR genes, which are not only related to high risk of breast cancer, but also potentially related to poly ADP ribose polymerase inhibitor (PARPi) targeted therapy. The exact relationship of rare gene mutations to breast cancer predisposition and the pathogenicity of VUS need to be further investigated.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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CONCLUSION: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.PMID:35077220 | DOI:10.1200/JCO.21.02112
Source: Clinical Genitourinary Cancer - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSIONS: The most cited papers identified in this study described the advance in the knowledge of genetics and epidemiology in male breast cancer and has led to improvements in the 4 management of the disease. Most of the highly cited articles in this field were published in high impact journals and had accumulated at least 100 citations to date, reflecting their quality and impact. By collating the most influential publications in this field, this analysis can serve to identify knowledge gaps in male breast cancer research as well as to help identify what makes a paper impactful and citable.PMID:34219705 | DOI:10.3233/BD-201024
Source: Breast Disease - Category: Cancer & Oncology Authors: Source Type: research
Anna Maria Molinari Double heterozygosity (DH) in BRCA1 and BRCA2 genes and double mutation (DM) in BRCA1 or BRCA2 are extremely rare events in the general population, and few cases have been reported worldwide so far. Here, we describe five probands, all women, with breast and/or ovarian cancer and their families. Particularly, we identified two probands with DH in the BRCA1/2 genes with a frequency of 0.3% and three probands with DM in the BRCA2 gene with a frequency of 0.5%. The DH BRCA1 c.547+2T>A (IVS8+2T>A)/BRCA2 c.2830A>T (p.Lys944Ter) and BRCA1 c.3752_3755GTCT (p.Ser1253fs)/BRCA2 c.425+2T&...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Pathogenic variants (ie, mutations) in the breast cancer susceptibility 1 and 2 (BRCA1/2) genes are associated with a high risk of ovarian and female breast cancer as well as, particularly for BRCA2, elevated risks of male breast cancer, aggressive prostate cancer, and pancreatic cancer. The risks of ovarian cancer and breast cancer are as high as 45% and 70%, respectively. The detection of a BRCA1/2 pathogenic variant can significantly alter medical management (by early detection or risk reduction strategies) and improve outcomes.
Source: JAMA - Category: General Medicine Source Type: research
In Stories of Hope, we regularly publish the stories of people who have a positive message to share, whether their cancer diagnosis was just recently, or long ago. Our featured survivors share words of inspiration, wisdom, hope, and support in these stories about how their lives have been changed by cancer. Our editors have chosen 10 of the most inspirational stories of 2016. For many who are facing a cancer diagnosis, or any other illness or hardship, hearing from others who've been through one already can be a great source of comfort and support. We hope you will find inspiration in these stories of cancer survivors. &nb...
Source: American Cancer Society :: News and Features - Category: Cancer & Oncology Tags: Coping with Cancer Source Type: news
Germline mutations in the BRCA genes are associated with highly increased risk of breast and ovarian cancers and to a lesser extent to prostate and pancreatic cancers. Great number of mutations with variable impact on cancer risk and progression are known in these genes worldwide. A single founder mutation has been detected in each of the BRCA genes in the Icelandic population, making it feasible to study the influence of a single mutation at a population level. The BRCA2999del5 mutation is more frequent and can be found in approximately 6-7% of female breast cancer patients and 40% of male breast cancer patients in Icelan...
Source: Molecular Cancer Research - Category: Cancer & Oncology Authors: Tags: Genomics - Sporadic and Hereditary: Poster Presentations - Proffered Abstracts Source Type: research
It is now 2016, and Americans hope for a brighter, healthier new year. Are Americans healthier today than they were last year or the year before? Will there be fewer people diagnosed with cancer? According to the American Cancer Society, it is projected that in 2016 there will be 1,685,210 new cancer cases and 595,690 deaths due to cancer. This is an increase over previous years. While it is true that the death rate for several cancers has decreased (due mostly to better screening and earlier diagnosis), it is also true that several cancers are on the rise, including cancers of the thyroid, liver, pancreas, kidney, small i...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
Conclusions: Our data supports existing literature associating PALB2 mutations with TNBC. We did not observe significant associations between PALB2 carrier status and a clinical history of pancreatic, prostate, or ovarian cancers. However, this data should be interpreted with caution, as it is possible that unidentified genetic factors contributed to the clinical history of cancer in our mutation-negative controls. Investigation of PALB2-associated cancer risks in an unselected prospective cohort would help to further elucidate the PALB2 phenotype. Citation Format: Emily K Dalton, Rachel McFarland, Holly Laduca, Shuwei Li,...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Poster Session Abstracts Source Type: research
Patients at high risk for hereditary breast and ovarian cancer (HBOC) driven by BRCA1 and BRCA2 gene mutations have some distinct clinical characteristics, including young age at onset, triple-negative breast cancer phenotype, bilateral primary breast cancers, breast and ovarian/fallopian tube/primary peritoneal cancers, male breast cancer, and Ashkenazi Jewish ancestry.1 Among the other high-risk breast cancer syndromes, however, including Li-Fraumeni (via p53 mutation) and Cowden (via PTEN mutation) syndromes, none include an increased risk of cancer of the upper gastrointestinal tract; colorectal cancers may be slightly...
Source: Seminars in Oncology - Category: Cancer & Oncology Authors: Tags: Current Clinical Practice Source Type: research
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