Prevention of breast & amp;ovarian cancer in women with BRCA-1/2 mutations - A decision-analytic evaluation

ConclusionsBased on our results, PBM at age 30 plus PBSO between age 30 and 40 prolongs life and is cost effective in women with BRCA-1/2 mutations in Germany. Serial preventive surgeries with delayed PBSO potentially improve quality of life for women. We therefore suggest that efforts should be directed to carefully and thoroughly inform women with BRCA-1/2 mutations about their options to prevent breast and ovarian cancer.Key messagesProphylactic mastectomy at age 30 combined with prophylactic oophorectomy between age 30 and 40 may prolong lives and be cost effective in German women with BRCA- 1/2 mutations.Women ’s quality of life might be improved by a delayed prophylactic oophorectomy after a prophylactic mastectomy.
Source: The European Journal of Public Health - Category: General Medicine Source Type: research

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ConclusionAll more invasive strategies were found to increase life expectancy and quality of life of women with aBRCA1 orBRCA2mutation and were cost-saving for the Swiss healthcare system compared to IS.
Source: The European Journal of Health Economics - Category: Health Management Source Type: research
We present the case of a 50-year-old woman, initially diagnosed with bilateral luminal B breast cancer with BRCA1 mutation. She received neoadjuvant chemotherapy, modified radical mastectomy and bilateral adnexectomy, while subsequently identifying a synchronous advanced ovarian cancer, stage FIGO IIIC, followed by adjuvant platinum chemotherapy and external radiotherapy. After a 12 months disease-free interval a brainstem tumor was discovered, for which whole-brain radiotherapy was performed. She received 6 months of PARP-inhibitors through an early access program. With only a partial at the end of treatment, the brainste...
Source: Clinical Genitourinary Cancer - Category: Cancer & Oncology Authors: Source Type: research
When Heather Mann learned she had breast cancer, it was a complete surprise. “I had never thought that I was at high risk for breast cancer,” the 49-year-old says. “I don’t have any family lineage or history of breast cancer. My grandmother on my father’s side had breast cancer, but apparently that’s not usually a significant factor. So I was very surprised when I found out that I had a malignant tumor.” Shelia Bauer ‘s breast cancer journey took a very different route. After her twin sisters died of the disease in their 50s, Bauer, now 73, assumed that she likely carried som...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Cancer healthscienceclimate Source Type: news
Eur J Med Genet. 2021 Oct 1:104350. doi: 10.1016/j.ejmg.2021.104350. Online ahead of print.ABSTRACTHereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as PALB2, ATM and CHEK2. As genetic testing becomes more prevalent and new clinical data emerge, updates of national guidelines are required to incorporate these advances in our knowledge. The aim of this work is to review the guidelines for HBOC genetic testing and clinical surv...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
CONCLUSION: Clinical breast examination did not increase the number of breast cancers detected in MRI-screened women with BRCA1/2 mutations. Removing breast examination from surveillance programs that include MRI may be reasonable for these women.PMID:34420218 | DOI:10.5694/mja2.51226
Source: Medical Journal of Australia - Category: General Medicine Authors: Source Type: research
Breast. 2021 Aug 3;59:327-338. doi: 10.1016/j.breast.2021.07.021. Online ahead of print.ABSTRACTBACKGROUND: Premenopausal women with early hormone-receptor positive (HR+) breast cancer receive 5-10 years of adjuvant endocrine therapy (ET) during which pregnancy is contraindicated and fertility may wane. The POSITIVE study investigates the impact of temporary ET interruption to allow pregnancy.METHODS: POSITIVE enrolled women with stage I-III HR + early breast cancer, ≤42 years, who had received 18-30 months of adjuvant ET and wished to interrupt ET for pregnancy. Treatment interruption for up to 2 years was permitted to...
Source: Breast - Category: Cancer & Oncology Authors: Source Type: research
AbstractStudy questionDoes concomitant letrozole administration during COS alter Ki –67 expression in women undergoing FP procedures before breast cancer surgery?Summary answerConcomitant letrozole administration during COS, even for a short period, can reduce Ki –67 expression in breast cancer.What is known alreadyThe biggest concern with COS in breast cancer patients is the increase in serum estradiol levels, caused by the development of multiple follicles simultaneously. This has always been a major hindrance to the use of traditional ovarian stimulation regimens in these patients, due to the large amount of...
Source: Human Reproduction - Category: Reproduction Medicine Source Type: research
AbstractPurpose of ReviewYoung women who carry a genetic predisposition to breast cancer need to balance surgical and nonsurgical risk reducing options with childbearing. In this review, we explore how women make decisions without the benefit of official guidelines and in the context of frequently contradictory strategies.Recent FindingsWomen of reproductive age with known BRCA mutations receive incomplete and conflicting advice regarding the urgency and timing of risk reducing mastectomy (RRM). Those who prioritize RRM achieve highly effective prevention and thereby avoid not only a diagnosis of breast cancer but also adj...
Source: Current Breast Cancer Reports - Category: Cancer & Oncology Source Type: research
We report a case of extrauterine epithelioid trophoblastic tumor (ETT)-the rarest variant of gestational trophoblastic tumor-that has been stable on nearly two years of pembrolizumab treatment. A 47-year-old gravida 2, para 2 who underwent a prophylactic bilateral salpingo-oophorectomy nine years prior and bilateral mastectomy five years prior in the setting of a strong family history of breast and ovarian cancer with no genetic testing performed, presented to an outside clinic with recurrent respiratory infections without resolution despite antibiotics. Radiology and pathology testing confirmed the ETT diagnosis, includin...
Source: Ann Oncol - Category: Cancer & Oncology Authors: Source Type: research
Ann Med Surg (Lond). 2021 Apr 16;65:102311. doi: 10.1016/j.amsu.2021.102311. eCollection 2021 May.ABSTRACTGerm-line mutation in BRCA (BReast CAncer gene) 1 or BRCA2 are found in 3-4% of all women with breast cancer. These patients have a significant increased risk of breast and ovarian cancer. They are often younger when diagnosed with the mutation, and the possible breast cancer they get is often aggressive with inferior outcome. There are risk reducing strategies, and the most powerful strategy is risk reducing surgery, both risk reducing bilateral mastectomy (RRM) and risk reducing bilateral salpino-oophorectomy (PBSO)....
Source: Annals of Medicine - Category: Internal Medicine Authors: Source Type: research
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