BRCA1 is not typically thought to be one of the genes which cause Fanconi anemia. However, rare cases of individuals with biallelic BRCA1 mutations (mutations in both copies of the gene) have been reported. One case involved a woman who had breast cancer at age 23, and was born with multiple birth defects consistent with …
Permanent link to this article: https://inheritedcancer.net/post90120/
More than 40% of patients with pheochromocytoma or paraganglioma, regardless of age and family history, carry an inherited gene mutation. Given that gene mutation carriers may benefit from gene-specific cancer screening, all individuals diagnosed with one of these tumors should seek genetic counseling to discuss genetic testing options. Genes that predispose to pheochromocytoma and paraganglioma …
Permanent link to this article: https://inheritedcancer.net/post82520/
In each newsletter, we give participants the opportunity to have their questions addressed by experts in the field. This question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the …
Permanent link to this article: https://inheritedcancer.net/6nls2020/
We have known for a while that many people who have mutations in BRCA1/2 and other inherited cancer risk genes are unaware of their mutation as they have not yet had genetic testing. A recent study among women aged 20 or older living in California and Georgia, which included almost 80,000 breast cancer patients and …
Permanent link to this article: https://inheritedcancer.net/4nls2020/
Testing for inherited cancer among breast cancer patients has tremendous potential to guide appropriate care following testing. Yet, a number of efforts suggest that women are not consistently receiving care according to current national guidelines based on their genetic test result. In fact, results from studies suggest many women for whom risk-reducing mastectomy would not …
Permanent link to this article: https://inheritedcancer.net/3nls2020/
A recently published study based on data from our participants showed that few young Black women with breast cancer see a genetic counselor AND those with insurance are LESS likely to see a genetic counselor. For more information, check out the full study at: https://www.nature.com/articles/s41436-020-0762-0
Permanent link to this article: https://inheritedcancer.net/post80420/
It is important to talk about racial inequalities in healthcare as it affects the care received among Black patients. Through our research efforts, we not only want to address the issue of racism but also think about ways to make healthcare more equitable. A recently published study including our research participants (young women with breast …
Permanent link to this article: https://inheritedcancer.net/post72120/
Below you may watch a featured video from the July 2020 Genetics Case Conference, which focused on BAP1 with guest expert Dr. Mohamed Abdel-Rahman from The Ohio State University. To learn more about the BAP1 study, please click here. To refer your patients to the BAP1 study, please contact The Ohio State University BAP1 …
Permanent link to this article: https://inheritedcancer.net/video70920/
Individuals with a family history of pancreatic cancer have a higher risk to develop pancreatic cancer. A recent study reported the following pancreatic cancer risks compared to the general population, based on relationship to an individual with pancreatic cancer: First-degree relative (e.g., parent, sibling, child) – 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …
Permanent link to this article: https://inheritedcancer.net/post70720/
Below you may watch a featured video from the May 2020 Genetics Case Conference, which focused on deciphering variant reports and classification with guest expert Dr. Rebecca Smith from Vanderbilt University Medical Center.
Permanent link to this article: https://inheritedcancer.net/video51420/
The American Society of Clinical Oncology (ASCO) recently published a guideline reinforcing the longstanding recommendation that all women diagnosed with epithelial ovarian cancer (EOC) be offered genetic testing for hereditary ovarian cancer genes. Many of these women (>15%) have an inherited mutation, most commonly BRCA1 or BRCA2. Identifying BRCA1/2 mutations may help guide cancer treatment. …
Permanent link to this article: https://inheritedcancer.net/post41720/
There are different types of genetic/DNA tests offered to patients with cancer: 1) Tumor tests, mainly done to guide cancer treatment. 2) Blood or saliva tests (on normal DNA that individual was born with) to identify inherited cancer predisposition, which may also guide cancer treatment in some instances. Genetic testing of the tumor detects mutations …
Permanent link to this article: https://inheritedcancer.net/post22620/
Through each newsletter, we give our participants an opportunity to have their questions answered by experts. If you have a question you would like addressed, please email the study team at ICARE@InheritedCancer.net for consideration in future newsletters. The following question was addressed by Ben Ho Park, MD, PhD, who is the Donna S. Hall Chair …
Permanent link to this article: https://inheritedcancer.net/8nlw2020/
Women of non-European ancestry diagnosed with ovarian cancer have lower rates of referral for genetic testing despite current national guidelines stating ALL women with ovarian cancer and/or a close-blood relative with ovarian cancer should be offered genetic counseling and testing. One study reported that only 1/3 of Black, Latina, and Asian women were referred for …
Permanent link to this article: https://inheritedcancer.net/post11620/
Happy New Year! 2020 represents a decade for ICARE We are celebrating 10 years of research, education, and engagement, through which we have enrolled nearly 3500 participants, including over 2000 gene mutation carriers, disseminated 15 newsletters, led and collaborated on multiple research projects, and impacted individuals affected by inherited cancer predisposition all over the …
Permanent link to this article: https://inheritedcancer.net/post1920/
The American College of Medical Genetics and Genomics (ACMG) put forth a Points-to-Consider document: “Is there Evidence to Support BRCA1/2 and Other Inherited Breast Cancer Genetic Testing for all Breast Cancer Patients?” The document discusses: 1) Current data to support testing in breast cancer patients …
Permanent link to this article: https://inheritedcancer.net/post121319/
Did you know? National practice guidelines currently recommend ALL women with metastatic (HER2-) breast cancer to get genetic testing for inherited cancer (including BRCA1/2 testing), because it can guide eligibility for treatment with PARP inhibitors. A new study led by our colleague at the Vanderbilt-Ingram Cancer Center, Dr. Ben Park, suggests that more women with …
Permanent link to this article: https://inheritedcancer.net/post110719/
Did you know? Although BRCA testing has been around for over TWO decades, not all populations have benefitted equally from testing. In fact, our previous research has shown that black patients are less aware of BUT interested in genetic testing…when they know about it. In addition, healthcare providers are less likely to identify and suggest …
Permanent link to this article: https://inheritedcancer.net/post102419/
Latina women are at risk for inherited breast cancer: Breast cancer mortality rates are higher among Latina women compared to non-Hispanic White women. Latina women also have a higher prevalence of triple-negative breast cancer when compared to with non-Hispanic White women. Latina women are diagnosed with breast cancer at earlier ages, 56 years versus 63 …
Permanent link to this article: https://inheritedcancer.net/post102319/
Did you know? Beyonce’s father, Matthew Knowles, was diagnosed with breast cancer. He states, “we used to think this was only an issue for women, but this is male or female.” According to CBS news, “he is hoping that sharing his story as man with breast cancer will shine a light on the risk men …
Permanent link to this article: https://inheritedcancer.net/post10619/
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