Cancer Risks for Men With &lt;i&gt;BRCA1/2&lt;/i&gt; Mutations

Mahon, Suzanne M.

doi:10.1188/14.onf.99-101

Cited by 11 publications

(6 citation statements)

References 10 publications

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“…Research citing men's risks has shown variations in the percentage risk men have of developing multiple cancers (Gumaste et al 2015;Liede, Karlan, & Narod, 2004). Such research shows men with a germline pathogenic variant in BRCA1 (BRCA1 carriers) have a lifetime breast cancer risk of 1-5%, 2-3% risk of pancreatic cancer, and 7-26% risk of prostate cancer (Leongamornlert et al 2012;Mahon 2014), while male BRCA2 carriers have a lifetime breast cancer risk of 5-10%, 15-61% risk of prostate cancer, 3-5% risk of pancreatic cancer, and 3-5% risk of melanoma (Mahon 2014;Mersch et al 2015). These statistics are in comparison to males in the general population, who have a 0.1% breast cancer risk, 16% risk of prostate cancer, 1% risk of pancreatic cancer, and 1-2% risk of melanoma (Mahon 2014).…”

Section: Introductionmentioning

confidence: 99%

“I Am Uncertain About What My Uncertainty Even Is”: Men's Uncertainty and Information Management of Their BRCA‐Related Cancer Risks

Rauscher

Dean

Campbell‐Salome

2018

Journal of Genetic Counseling

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Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study. Using uncertainty management theory as a theoretical framework, this study demonstrates that men manage uncertainty by seeking information from female family members, websites, and healthcare providers, and are under-informed about their cancer risks. Further, in handling their information, men prefer information about cancer risk percentages and screening recommendations in the form of lists presented to them via websites, printed literature, proactive healthcare providers, and an identifiable male spokesperson. Finally, men used BRCA-related cancer risk information to make decisions about whether or not to engage in screening and prevention, manage their BRCA-related cancer risks, and overall family well-being-yet often at the expense of their own individual risks. Implications for genetic counseling and family conversations are discussed.

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Section: Introductionmentioning

confidence: 99%

“I Am Uncertain About What My Uncertainty Even Is”: Men's Uncertainty and Information Management of Their BRCA‐Related Cancer Risks

Rauscher

Dean

Campbell‐Salome

2018

Journal of Genetic Counseling

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“…The risk of breast cancer in BRCA1 carrier men at age 70 is 1.2%, while for BRCA2 carriers is 6.8%. Besides breast cancer, male germline mutation carriers also have an increased lifetime risk for prostate cancer with a BRCA Gene Mutations and Prostate Cancer DOI: http://dx.doi.org/10.5772/intechopen.108792 cumulative lifetime risk of 29% (95% CI = 17-45%) for BRCA1-mutation carriers and 60% (95% CI = 43-78%) for BRCA2-mutation carriers compared with a lifetime risk of 16% of the general population [12,13]. Familial aggregation of mutations is also well documented in Laitinen et al [14].…”

Section: Brca1 and Brca2 Importance In Prostate Cancermentioning

confidence: 99%

BRCA Gene Mutations and Prostate Cancer

Kharaishvili¹,

Kacheishvili²,

Akhvlediani³

2023

BRCA1 and BRCA2 Mutations - Diagnostic and Therapeutic Implications

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Prostate cancer remains the second most common cancer in men, with diverse courses from indolent cases to aggressive diseases. Among the key factors implicated in its pathogenesis are genomic alterations such as the TMPRSS2-ERG and related fusion oncogenes, loss of tumor suppressor PTEN, p53 or NKX3.1, inflammation, enhanced DNA damage, and chromosomal instability. Men with prostate cancer who carry BRCA1/2 mutations are at more risk of worse disease and poor prognosis. Cancer cells with mutant BRCA1 or BRCA2 repair genes with defects in homologous recombination are vulnerable to PARP inhibitors that target the genetic phenomenon known as synthetic lethality to exploit faulty DNA repair mechanisms. With relevance to prostate cancer, other features of cancer cells may also sensitize to PARP inhibitors, including aberrant transcription due to the androgen-driven fusion oncogene TMPRSS2-ERG or PTEN loss. Several models of synthetic lethality and potential biomarkers suggested up to date are also discussed. The chapter also highlights the importance of genetic screening of men with BRCA and shows diagnostic utility of plasma-derived circulating tumor DNA.

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“…70 Contributing factors to misinformation among male BRCA-carriers include (i) limited availability of relevant information and resources pertaining to genetic risk of BRCA-associated cancers such as PC and male breast cancer, [71][72][73] and (ii) lack of awareness among healthcare personnel about men's inherited cancer predisposition and available treatment options. 74 BRCA1/2 carriers are labelled as persons with "Hereditary Breast and Ovarian Cancer syndrome" 75 which is misleading because BRCA1/2 variants increase the risk of other cancers like PC, pancreatic cancer and melanoma, 76,77 but it also feminizes the condition 73,78 leading to stigma within the male population. Improved education and training around identification of genetic susceptibility to PC, more streamlined access to family history assessment, somatic and germline testing for PC patients will all increase identification of individuals with inherited susceptibility to PC.…”

Section: Dovepressmentioning

confidence: 99%

A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer

King¹,

McHugh²,

Snape³

2021

TACG

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BRCA2 is the most commonly implicated DNA damage repair gene associated with inherited prostate cancer. BRCA2 deficient prostate cancer typically presents at a younger age, is more poorly differentiated, and is associated with worse survival outcomes than non-BRCA2 associated prostate cancer. Despite these unfavourable prognostic implications, poly-ADP ribose polymerase inhibitors and platinum-based chemotherapy have been identified as potent targeted therapeutic agents towards BRCA1/2 deficient cancer cells. This review article explores the literature surrounding BRCA2-related prostate cancer through a familial clinical scenario. The investigation, diagnosis and management of BRCA2 deficient prostate cancer will be explored, alongside the implications of the identification of a germline pathogenic BRCA2 variant within a family, cascade screening and prostate cancer surveillance in unaffected male BRCA2 carriers. A greater understanding of the molecular pathogenesis of DNA damage repair gene deficient prostate cancer, coupled with new treatment paradigms and widened access to both somatic and germline genetic analysis for prostate cancer patients and their families will hopefully enable the robust implementation of high quality evidence-based clinical pathways for both the management and identification of BRCA2 deficient prostate cancer and improved screening, early detection and prevention strategies for individuals at increased genetic risk of prostate cancer.

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Cancer Risks for Men With <i>BRCA1/2</i> Mutations

Cited by 11 publications

References 10 publications

“I Am Uncertain About What My Uncertainty Even Is”: Men's Uncertainty and Information Management of Their BRCA‐Related Cancer Risks

“I Am Uncertain About What My Uncertainty Even Is”: Men's Uncertainty and Information Management of Their BRCA‐Related Cancer Risks

BRCA Gene Mutations and Prostate Cancer

A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer

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