The FDA granted breakthrough therapy designation to niraparib (a PARP inhibitor) for the treatment of men with BRCA1/2 positive, metastatic castration-resistant, and heavily pre-treated prostate cancer. Results from a recent study show a 63% complete response rate in men with BRCA1/2 positive, metastatic castration-resistant prostate cancer treated with niraparib compared to 17% in the non- …
Permanent link to this article: https://inheritedcancer.net/post122019/
A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …
Permanent link to this article: https://inheritedcancer.net/post121619/
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? PROs are impacting treatment advances in metastatic breast cancer. Olaparib increased progression-free survival among BRCA carriers with metastatic HER2- breast cancer. Thanks to patient reported outcomes, a new study now suggests it also improved patients’ quality of life! Check it out the new article published in October 2019 directly at https://www.ncbi.nlm.nih.gov/pubmed/31446213!
Permanent link to this article: https://inheritedcancer.net/post12819/
We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …
Permanent link to this article: https://inheritedcancer.net/post12419/
The National Quality Forum defines patient reported outcomes (PROs) as “any report of the status of a patient’s health condition that comes directly from the patient.” PROs have the potential to increase overall outcomes and care process and enhance patient and family centered care.
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The differences seen in access to healthcare across different racial groups are known as health disparities. To address the gap in awareness, we have pursued efforts to raise awareness about inherited breast cancer among African Americans. We are excited to introduce you to another invaluable resource, the Breast Cancer Genetics Research and Education for African American …
Permanent link to this article: https://inheritedcancer.net/post11119/
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/post11719/
Body mass index (BMI) is an indicator of fat content in the body. A lower body mass index may reduce breast cancer risk in women, including those with a family history of breast cancer. However, a new study reported that higher BMI also increases breast cancer risk in the general population and those with a …
Permanent link to this article: https://inheritedcancer.net/post102919/
BRCA1/2 carriers may benefit from physical activity to reduce breast cancer risks, just like women in the general population! We know that women in the general population benefit from physical activity to reduce their breast cancer risk, but a recent study showed that this benefit also extends to those with a BRCA1/2 mutation and those with …
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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 …
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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 …
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Monotherapy with PARP inhibitors is FDA-approved for patients with metastatic breast cancer with BRCA mutations. BUT, does adding additional drugs (called ‘combination therapy’) help? In BRCA carriers with metastatic breast cancer, the combination of veliparib AND chemotherapy with platinum-based agents (carboplatin) and taxanes (paclitaxel) led to a longer duration of progression free survival (disease that …
Permanent link to this article: https://inheritedcancer.net/post101819/
New benefits from a PARP inhibitor, talazoparib, among BRCA carriers with early stage breast cancer. The current FDA approvals for the use of PARP inhibitors is limited to women with metastatic (stage IV) breast cancer. These drugs are being tested in early stage breast cancer to shrink down the tumor (called neoadjuvant treatment) before surgery …
Permanent link to this article: https://inheritedcancer.net/post101519/
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/
With the tremendous advances in gene-based care among those with inherited cancer risk, we are trying to develop tools and strategies to make it easier for more people to benefit from genetic education and testing. We are proud to introduce you to GeneSHARE, a free online toolkit for YOU, to help share positive test results …
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The following question was addressed by Gillian Hooker, PhD, ScM, LCGC, who is the president-elect for the National Society of Genetic Counselors, Adjunct Associate Professor in the Division of Genetic Medicine at the Vanderbilt University Medical Center, and the Vice President of Clinical Development for Concert Genetics in Nashville, TN. Q. Why was the BRCA1/2 …
Permanent link to this article: https://inheritedcancer.net/10nls2019/
A recently reported study of women with ovarian cancer and homologous recombination deficiency (HRD) who received a PARP inhibitor (niraparib) as fourth line or later treatment showed potential clinical benefit. Specifically, median overall survival after treatment was 19 months in the HRD-positive group (including those with BRCA1/2 mutations) compared to 15.5 months in the HRD-negative …
Permanent link to this article: https://inheritedcancer.net/4nls2019/
(Version 1.2019, posted July 3, 2019) For Individuals with Lynch Syndrome: The cancer risk table was updated: Addition of new cancer risks by specific genes: breast and bladder cancers Updates of cancer risks by specific genes: ovarian, prostate, gastric, pancreatic, urothelial, small bowel, and brain/CNS cancers Removal of reference to sebaceous neoplasms Recommendations for cancer …
Permanent link to this article: https://inheritedcancer.net/1nls2019/
Looking at pregnancy history and breast cancer risk, a recent study of almost 8,000 women with BRCA1/2 mutations evaluated breast cancer risks related to pregnancy.1 Findings suggested the overall number of pregnancies was not associated with breast cancer risk in BRCA1 carriers; however, BRCA1 carriers with one pregnancy were at higher risk for breast cancer …
Permanent link to this article: https://inheritedcancer.net/6nls2019/
Life was great at 45. I had nothing more than a few headaches and was a tad overweight. After a friend was diagnosed with breast cancer, I realized I had not had a mammogram in a couple of years, so I scheduled an appointment. One mass was found, but it was benign and nothing to …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2019/
Results from a clinical trial of individuals with a BRCA1/2 mutation and pancreatic cancer showed that patients who received a PARP inhibitor (olaparib) for maintenance treatment had almost half the risk of their disease progressing when compared to receiving a placebo.1 In fact, after 2 years, 22.1% of patients who received olaparib had no disease …
Permanent link to this article: https://inheritedcancer.net/3nls2019/
In a study of inherited mutations in the CHEK2 gene, findings suggest there were two specific mutations that could predispose men to testicular germ cell tumors (TGCT). Specifically, 205 men with these tumors were tested for 48 DNA repair genes, and findings were then tested in other patient populations. These findings suggest that CHEK2 mutations …
Permanent link to this article: https://inheritedcancer.net/7nls2019/
In a study of over 100 individuals with a DICER1 mutation, findings suggest that 5.3% of individuals had developed cancer by age 10, and 19.3% by age 50. After age 10, cancer risks for women were higher compared to men. Specific cancers for which risks were high included gynecologic and thyroid cancers. These findings are …
Permanent link to this article: https://inheritedcancer.net/8nls2019/
The U.S. Preventive Services Task Force (USPSTF) came out with new genetic testing guidelines for the BRCA1/2 genes, which has garnered substantial media attention. This task force consists of a team of primary care and preventive medicine healthcare experts to lower the chance of a conflict of interest (which is also the reason that subspecialty …
Permanent link to this article: https://inheritedcancer.net/5nls2019/
There is now information to suggest that identifying inherited mutations in DNA repair genes, such as BRCA1/2 and other genes, in men with metastatic prostate cancer may open doors for other treatment options. Results of a phase 2 clinical trial among men with metastatic and heavily pre-treated prostate cancer were presented at the American Society …
Permanent link to this article: https://inheritedcancer.net/2nls2019/
Since expanded genetic testing has become available through multigene panel tests, studies have suggested that many people identified to have TP53 mutations do not have a typical personal or family history, which is usually seen with Li-Fraumeni syndrome (LFS). A recent study looking at over 300 individuals with TP53 mutations (identified through multi-gene panel testing) …
Permanent link to this article: https://inheritedcancer.net/11nls2019/
Through a study of over 13,000 patients with serous ovarian cancers and almost 41,000 controls, 34 genes that raise the risk for ovarian cancer were identified. Additional laboratory studies were conducted to further characterize some of these genes, suggesting that three of these new genes may be essential (HAUS6, KANLS1, and PRC1). This study has …
Permanent link to this article: https://inheritedcancer.net/9nls2019/
A new drug (sorafenib) showed promising results among patients with desmoid tumors, which are a type of tumor for which patients with Familial Adenomatous Polyposis (FAP) due to APC gene mutations are at risk. These tumors frequently grow and encompass internal organs and can be hard to remove surgically. The newly published research showed that …
Permanent link to this article: https://inheritedcancer.net/9nlw2019/
Early detection of pancreatic cancer is tremendously important, given that most patients who develop the disease are diagnosed at a later stage of the disease when it is usually incurable. Although screening through imaging studies has been proposed (i.e., magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic ultrasound),1 data to support this type of screening as an …
Permanent link to this article: https://inheritedcancer.net/12nlw2019/
When I was 50 years old I was in pretty good physical shape and I thought I was finally getting six pack abs. I was wrong – those abs were a large football sized tumor, along with a variety of smaller tumors. I was diagnosed with Stage 4 ovarian cancer. I had a hysterectomy and fibroid removal …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2019/
Pertaining to metastatic prostate cancer, recently published data reported 8.1% of men with advanced prostate cancer had evidence of mismatch repair (MMR) mutations in their tumors. These types of mutations are frequently seen in tumors among Lynch syndrome patients. In addition, men with this type of tumor had much poorer survival. Tumors with MMR defects …
Permanent link to this article: https://inheritedcancer.net/7nlw2019/
A gene called GALNT12 may be yet another inherited colorectal cancer gene,1 as originally suggested by prior studies.2 The current study screened almost 500 colorectal cancer patients and identified 8 rare variants that may be disease causing. The frequency of variants among colorectal cancer patients was much higher than that observed among population-matched healthy controls, …
Permanent link to this article: https://inheritedcancer.net/13nlw2019/
Additional exciting advances include the results of a new drug (pazopanib) to treat an inherited cancer condition called von Hippel-Lindau Disease (VHL), in which patients are predisposed to kidney cancers, pancreatic tumors, and hemangioblastomas (i.e., tumors involving the blood vessels). Study results showed that among 31 patients with VHL, overall response rate with the drug …
Permanent link to this article: https://inheritedcancer.net/8nlw2019/
An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …
Permanent link to this article: https://inheritedcancer.net/10nlw2019/
Treatment among patients with metastatic castration-resistant prostate cancer: A PARP inhibitor (rucaparib) was granted a breakthrough therapy designation in October 2018 for monotherapy (i.e., sole treatment) among men with metastatic castration-resistant prostate cancer (with a BRCA1/2 mutation) who have received at least one prior androgen receptor-directed treatment and taxane-based chemotherapy. This designation was granted based …
Permanent link to this article: https://inheritedcancer.net/3nlw2019/
The following 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 Clinical and Translational Hereditary Cancer Program for the Vanderbilt-Ingram Cancer Center in Nashville, Tennessee. Q. What are …
Permanent link to this article: https://inheritedcancer.net/14nlw2019/
Treatment among patients with advanced or metastatic breast cancer: A PARP inhibitor (talazoparib) was approved by the FDA on October 16, 2018 for BRCA carriers with HER2-negative locally advanced or metastatic breast cancer, based on results of the EMBRACA trial outlined in the last ICARE newsletter. Litton JK, et al. N Engl J Med. 2018 …
Permanent link to this article: https://inheritedcancer.net/1nlw2019/
Although the Lynch syndrome tumor spectrum is thought to be limited to cancers of the colorectum, endometrium, ovaries, stomach, and a few other cancer types, a recent article suggested there might be a broader tumor spectrum than previously considered. Furthermore, colorectal and endometrial cancers which develop among Lynch syndrome patients frequently are determined on tumor …
Permanent link to this article: https://inheritedcancer.net/6nlw2019/
A recent study reported that a large proportion of men with aggressive prostate cancer have inherited cancer gene mutations. Specifically, among 400 patients with castration-resistant prostate cancer, 16.2% had a germline mutation in a DNA damage repair gene, including 3% with a BRCA2 mutation. Among BRCA2 carriers, survival was 17.4 months, which was much lower …
Permanent link to this article: https://inheritedcancer.net/5nlw2019/
First line maintenance treatment among patients newly diagnosed with advanced ovarian cancer: The results of a trial using a PARP inhibitor (olaparib) as maintenance treatment among ovarian cancer patients with advanced disease, a BRCA mutation, and complete or partial response to platinum-based chemotherapy showed that survival at 3 years was 60% among those who got …
Permanent link to this article: https://inheritedcancer.net/2nlw2019/
In a study of advanced renal cell cancer patients, inherited cancer gene mutations were identified in 16%, of which 5.5% had mutations in genes related to renal cell cancer. Among the subgroup with non-clear cell renal cancer, about a fifth had an inherited cancer gene mutation, half of which had a gene mutation that could …
Permanent link to this article: https://inheritedcancer.net/4nlw2019/
Results of germline genetic testing generally yield three types of test results: Deleterious (positive), Negative (no mutation detected), and Variant of Uncertain Significance (VUS). As more genes are tested, the chance for a positive result goes up, as does the chance of receiving a VUS result.1 VUS results tell us that it remains uncertain whether …
Permanent link to this article: https://inheritedcancer.net/15nlw2019/
Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …
Permanent link to this article: https://inheritedcancer.net/11nlw2019/
A number of recent studies have suggested that a substantial number of individuals with pancreatic cancer have a mutation in an inherited cancer gene. In a study of over 300 patients with pancreatic cancer (and with one or two family members with pancreatic cancer), 12% were found to have a mutation in 1 of 11 …
Permanent link to this article: https://inheritedcancer.net/4nls2018/
I was aware from a very young age that breast cancer was part of our family. I knew that my great-grandmother (whom I never met) had breast cancer and my grandmother was diagnosed in her 50’s. While I didn’t grow up being afraid of the disease, I was far more aware of it than were …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2018/
Permanent link to this article: https://inheritedcancer.net/1nls2018/
Through a randomized trial, patients with FAP were treated with sulindac and erlotinib versus placebo for 6 months. Results of the study showed that those treated with sulindac and erlotinib had 70% fewer polyps than those in the placebo group. The lower number of polyps was seen in both those with an intact colorectum and …
Permanent link to this article: https://inheritedcancer.net/9nls2018/
In a study of 51 individuals with multiple colon polyps drawn from 48 families, genetic testing through whole-exome sequencing identified 7 individuals (from 3 unrelated families) to have a mutation in both copies of their NTHL1 gene, and pedigree structure was consistent with autosomal recessive inheritance.1 All these individuals had colorectal cancer and a large …
Permanent link to this article: https://inheritedcancer.net/6nls2018/
For Individuals with Lynch Syndrome: Surveillance for gastric and small bowel cancer now indicates there is no clear data to support this, but surveillance can be performed every 3-5 years starting at age 40 Lack of evidence to make a recommendation for pancreatic or prostate cancer screening, beyond those already recommended through other NCCN Guideline …
Permanent link to this article: https://inheritedcancer.net/2nls2018/
In a Phase 3 clinical trial among BRCA carriers with advanced breast cancer, an oral PARP Inhibitor (talazoparib) was compared to standard chemotherapy. Among those who received the PARP inhibitor, risk of disease progression or death was 46% lower, and the response rate was double. Furthermore, the side effect profile, quality-of-life measures, and breast cancer …
Permanent link to this article: https://inheritedcancer.net/8nls2018/
It has long been established that the risk for developing leukemia in childhood is high among individuals with Li-Fraumeni Syndrome; however, better understanding the characteristics of leukemia among these individuals is important to guide treatment approaches. In a study of children with Acute Lymphocytic Leukemia (ALL), those with a germline TP53 mutation (compared to those …
Permanent link to this article: https://inheritedcancer.net/11nls2018/
Breast cancer risks were recently reported among a sample of 423 women with mutations in one of the Lynch syndrome genes (MLH1, MSH2, MSH6, or PMS2).1 Results indicated that breast cancer risks were substantially higher among those with MSH6 and PMS2 mutations, compared to MLH1 and MSH2 mutations. In fact, breast cancer risk to age …
Permanent link to this article: https://inheritedcancer.net/3nls2018/
A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …
Permanent link to this article: https://inheritedcancer.net/7nls2018/
Over the past year, multiple studies have refined risks and types of cancer among individuals with Lynch syndrome. Through a Scandinavian study, risks for 13 types of cancer (with colorectal cancers being excluded), were reported to be elevated with differences related to gender, age, and the gene in which mutation was present. Incidence rates of …
Permanent link to this article: https://inheritedcancer.net/5nls2018/
The following question was addressed by Ronald D. Alvarez, MD, MBA who is Professor, Chairman, and Clinical Service Chief of the Department of Obstetrics and Gynecology at Vanderbilt University Medical Center in Nashville, Tennessee. Dr. Alvarez has been the recipient of several National Cancer Institute (NCI) and other industry funded grants in support of his …
Permanent link to this article: https://inheritedcancer.net/10nls2018/
A cancer diagnosis is a life-changing event for every patient and their extended family. However, how we respond to this diagnosis are as individual as our very existence as evidenced by our looks and personalities. Following my diagnosis of stage 4 prostate cancer in 2014 at age 54 which had spread to my bones, I …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2018/
Findings through a recent study reported that inherited cancer gene mutations were present in 8.2% of those with advanced or metastatic prostate cancer, which provides additional support to include this group of men in broader testing, particularly as targeted treatments based on inherited gene mutations becomes increasingly available.1 Another recent study suggested that those with …
Permanent link to this article: https://inheritedcancer.net/10nlw2018/
As testing has broadened to include newer inherited cancer genes, studies have suggested that mutations which shorten the protein (“truncating mutations”) in the RAD51D gene are associated with ovarian cancer. However, a recent study examined ovarian cancer risks for a “non-truncating” change (a single base pair within the gene is changed which is called a …
Permanent link to this article: https://inheritedcancer.net/3nlw2018/
(Version 1.2018, posted Oct. 3, 2017) Metastatic prostate cancer was added as an indication for evaluation and testing for the BRCA1 and BRCA2 genes Among BRCA1, BRCA2, TP53 and PTEN carriers, women between ages 25-29 may consider having an annual mammogram with consideration of tomosynthesis if a breast MRI is not available. Among female BRCA2 …
Permanent link to this article: https://inheritedcancer.net/1nlw2018/
A recent study reported on a single blood test, named “CancerSEEK”, which can screen for 8 common types of cancer (ovarian, liver, stomach, pancreas, esophagus, colorectal, lung, and breast) and may help to identify the location at which the cancer started. This test evaluated the blood from over 1000 patients with Stage 1 to 3 …
Permanent link to this article: https://inheritedcancer.net/2nlw2018/
A recently published phase II clinical trial investigated the use of a new class of drugs (called PD-1 Inhibitors) in DNA mismatch repair-deficient/ microsatellite instability-high colorectal tumors (which are features seen in the majority of colorectal tumors from individuals with Lynch Syndrome) among patients with metastatic disease.1 Investigators found patients who received two PD-1 Inhibitors …
Permanent link to this article: https://inheritedcancer.net/7nlw2018/
In an effort to further study breast cancer risks among BRCA carriers, a recently published study compared breast cancer risks among those with and without a close family member (first-degree relative) with breast cancer.1 Findings showed that risk for breast cancer by age 80 was 60.8% in BRCA1 carriers and 63.1% among BRCA2 carriers, with …
Permanent link to this article: https://inheritedcancer.net/4nlw2018/
On January 12, 2018, the FDA approved the first PARP Inhibitor (Lynparza) for treatment in patients with advanced breast cancer due to inherited BRCA mutations.1 This drug is already approved for certain BRCA carriers for advanced ovarian cancer. PARP inhibitors were originally developed to target the specific pathway through which cancer develops among those with …
Permanent link to this article: https://inheritedcancer.net/6nlw2018/
The following question was addressed by Dr. Ingrid Meszoely is a breast surgeon and Clinical Director of the Vanderbilt Breast Center at One Hundred Oaks. She leads a high-risk clinic, through which she and her team of nurse practitioners manage patients with inherited breast cancer predisposition. Her research interests include both clinical and translational breast …
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In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …
Permanent link to this article: https://inheritedcancer.net/9nlw2018/
Several research groups from around the world that have conducted cancer screening among patients with Li-Fraumeni syndrome and a germline TP53 mutation have recently reported on their observations. Specifically, the National Cancer Institute group demonstrated that screening inclusive of rapid total body MRI detected cancers at an early stage,1 similar to findings published through other …
Permanent link to this article: https://inheritedcancer.net/5nlw2018/
The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. In women with a BRCA mutation and …
Permanent link to this article: https://inheritedcancer.net/6nls2017/
Over the last few years, immunotherapy has emerged as an exciting new class of drugs. As early as 2015, immunotherapy through PD-1 Inhibitors among patients with MSI-H colorectal cancers was shown to be of potential benefit.1 As many individuals with Lynch Syndrome have cancers that are MSI-H and mismatch repair deficient, this class of drugs …
Permanent link to this article: https://inheritedcancer.net/5nls2017/
Findings from an international study of over 6000 women with a BRCA1 mutation and almost 4000 women with a BRCA2 mutation followed for an average of 5 years were recently published.1 Results showed the risk of breast cancer by age 80 was ~70% for both BRCA1 and BRCA2 carriers. Rates of breast cancer increased until …
Permanent link to this article: https://inheritedcancer.net/1nls2017/
After a long rainy summer filled with doctor visits, I was finally diagnosed with triple-negative inflammatory breast cancer (TN IBC) at the age of 49. I completed treatment in June 2008 and was grateful to have a new phase to my vocabulary – NED, ‘no evidence of disease’. Since there was no cancer history in my …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2017/
Over the last decade, a new class of drugs called “PARP Inhibitors” has been evaluated as a form of targeted treatment among BRCA carriers. Results were recently reported from a Phase 3 clinical trial among BRCA carriers with HER2-negative metastatic breast cancer who received two or less prior chemotherapy regimens for their metastatic disease. Study …
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Recently, researchers evaluated the benefit of adding a mammogram to MRI for breast cancer screening among ~2000 women with a BRCA1 or BRCA2 mutation. Results indicated that the addition of mammography to MRI did not substantially raise the chance of detecting breast cancer in the overall group. However, one-third of breast cancer cases diagnosed among …
Permanent link to this article: https://inheritedcancer.net/7nls2017/
Although individuals with Li-Fraumeni Syndrome (LFS), due to mutations in the TP53 gene, have a very high lifetime risk of cancer, risks of initial and subsequent cancers are not well defined. Through a group of patients with the classic form of LFS, researchers at the National Cancer Institute estimated their cancer risks. They evaluated a …
Permanent link to this article: https://inheritedcancer.net/3nls2017/
Permanent link to this article: https://inheritedcancer.net/2nls2017/
On my 43rd birthday I was diagnosed with an advanced stage breast cancer. Although my BRCA1 and BRCA2 results were surprisingly negative, I was certain there must be a genetic component to my breast cancer since I was diagnosed at a fairly young age. I remained in contact with my geneticist, Dr. Georgia Wiesner, and …
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The FDA just approved another PARP inhibitor, rucaparib, for BRCA carriers with ovarian cancer who have already been treated with two or more chemotherapies. Among those with BRCA-mutant ovarian cancers, 54% had a partial or complete response to the drug with a median duration response of 9.2 months. The agency also approved a companion diagnostic …
Permanent link to this article: https://inheritedcancer.net/6nlw2017/
With increasing use of multi-gene panel tests, one of the genes in which mutations are frequently detected among breast cancer patients and others is the CHEK2 gene. This gene has been shown to have a 2-3 fold excess risk for breast cancer. There are many CHEK2 mutations that have been identified that generally fall into …
Permanent link to this article: https://inheritedcancer.net/8nlw2017/
Among 799 patients with prostate cancer, the rate of BRCA1/2 mutations was much higher among those who passed away of prostate cancer (6.07%) compared to those with low risk disease (1.44%).1 Among the group that died of prostate cancer, those with BRCA1/2 or ATM mutations passed away at an earlier age and had a shorter …
Permanent link to this article: https://inheritedcancer.net/3nlw2017/
Additional guidance pertaining to cancer risk management was provided in the most recent version of the NCCN Guidelines for inherited breast and ovarian cancer. These guidelines now include an expanded table outlining cancer risks and management for each gene, taking into account the age at initiation of each risk management modality as well as footnotes …
Permanent link to this article: https://inheritedcancer.net/1nlw2017/
There continues to be rapid advances in identifying new genes involved in inherited cancer risk. An example of yet another recently identified gene is FAN1, in which a nonsense variant (i.e. the premature change or loss of a protein) was identified following exome sequencing in 3 individuals from a family who met clinical criteria for …
Permanent link to this article: https://inheritedcancer.net/4nlw2017/
The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at the Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Q. Does salpingo-oophorectomy reduce the risk of breast …
Permanent link to this article: https://inheritedcancer.net/7nlw2017/
People with Lynch Syndrome have a non-working Lynch gene (“mutation”), while the other copy of that gene is normal (recognizing that all of these genes come in pairs, with one member of the pair coming from each parent). Over the last few years, there has been an increased realization that some individuals have a mutation …
Permanent link to this article: https://inheritedcancer.net/2nlw2017/
A recent study compared psychosocial adjustment and risk perception among 11 to 19 year old daughters of women with breast cancer, comparing those with a BRCA mutation versus those without.1 The overall findings from the study were reassuring, suggesting that adolescent girls from BRCA-positive families had higher self-esteem and similar psychosocial adjustment compared to their …
Permanent link to this article: https://inheritedcancer.net/5nlw2017/
Prior research has demonstrated that NSAIDs significantly reduce colonic and rectal polyp burden among individuals with FAP although their impact on outcomes remains to be determined.1,2 Recent data extended these results to the small intestine through completion of a randomized clinical trial among patients with FAP which demonstrated that use of sulindac and erlotinib compared …
Permanent link to this article: https://inheritedcancer.net/7nls2016/
The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …
Permanent link to this article: https://inheritedcancer.net/1nls2016/
Although BRCA mutations confer increased risk for ovarian, fallopian tube, and primary peritoneal cancer, there have been limited and conflicting risks reported for endometrial cancer. Consequently, current practice guidelines only recommend the removal of the fallopian tubes and ovaries as a risk-reducing option for BRCA carriers.1 Specifically, through a prospective study of 4500 women with …
Permanent link to this article: https://inheritedcancer.net/9nls2016/
The CHEK2 *1100delC mutation is the most common “truncating” mutation (causing a shortened protein) in the CHEK2 gene among Europeans, with lifetime breast cancer risk in the range of 20-30% among female carriers. Results of data pooled from over 30 studies which included 40,000 breast cancer cases and 40,000 controls, showed that estrogen receptor (ER) …
Permanent link to this article: https://inheritedcancer.net/6nls2016/
The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide …
Permanent link to this article: https://inheritedcancer.net/2nls2016/
A recently published study to evaluate the risk of second cancers among PTEN mutation carriers showed that women with breast cancer had a 10-year second breast cancer cumulative risk of almost 30%. Overall, the risk of second primary cancers was almost 8-fold that of the general population, primarily due to the higher risks of cancer …
Permanent link to this article: https://inheritedcancer.net/8nls2016/
The following question was addressed by Dr. Christine Laronga at the Moffitt Cancer Center: Q. How should bone health be monitored in women with a BRCA mutation after removal of the ovaries (i.e., risk-reducing salpingo-oophorectomy (RRSO))? A. Women with a BRCA mutation have a substantially high risk to develop ovarian cancer in their lifetime, yet …
Permanent link to this article: https://inheritedcancer.net/10nls2016/
Results from the original screening protocol for LFS1 were recently updated following collection of 11 years of follow-up data.2 Through this study, 89 patients with LFS were given the option of a clinical surveillance protocol consisting of a physical examination as well as frequent biochemical and imaging studies. Forty asymptomatic tumors were detected in 32% …
Permanent link to this article: https://inheritedcancer.net/4nls2016/
Several prior studies have suggested that men with a BRCA mutation (primarily BRCA2) tend to develop an aggressive form of prostate cancer that is more likely to metastasize. These findings were recently extended through a new study published in the New England Journal of Medicine.1 In this study, almost 700 men with metastatic prostate cancer, …
Permanent link to this article: https://inheritedcancer.net/5nls2016/
When I was diagnosed with cancer the first time at age 38, my sister (a breast cancer survivor since the age of 29) was positive we had a BRCA gene mutation. However, after we both had genetic testing done in 2006 the results showed we didn’t. Doctors said they were surprised we did not have a mutation in one of …
Permanent link to this article: https://inheritedcancer.net/spotlightnls2016/
A recent article sought to develop an approach to cancer risk management among individuals with mutations in newer inherited cancer genes, many of which result in a moderate (rather than ‘high’) cancer risk. Overall, the investigators suggest a framework that takes the age-specific, lifetime, and absolute cancer risks into account for inherited cancer genes where …
Permanent link to this article: https://inheritedcancer.net/3nls2016/
A recent study from France included over 400 patients with Li-Fraumeni Syndrome (all of whom had an inherited TP53 gene mutation). Cancer types among children and adults differed, with the main cancer types among children being osteosarcomas, adrenocortical carcinomas, central nervous system (CNS) tumors and soft tissue sarcomas; whereas among adults, the main cancer types …
Permanent link to this article: https://inheritedcancer.net/5nlw2016/
A recently published study of Dutch patients (including 200 BRCA1 carriers, 71 BRCA2 carriers, and 6023 non-carriers) showed that the contralateral breast cancer (breast cancer in the opposite breast) risks at 10 years was 21.1% for BRCA1, 10.8% for BRCA2, and 5.1% for non-carriers. Among BRCA mutation carriers, it was important to take age at …
Permanent link to this article: https://inheritedcancer.net/3nlw2016/
The following question was addressed by Dr. Christine Laronga at the Moffitt Cancer Center: Q. As a BRCA carrier, is it reasonable for me to consider nipple-sparing mastectomy (compared to total mastectomy) to reduce my future risks of breast cancer? A. One strategy to manage the high (60-70%) lifetime breast cancer risk among women with …
Permanent link to this article: https://inheritedcancer.net/6nlw2016/
I was first diagnosed with breast cancer when I was 56 years old. Because of my strong family history of breast cancer, I was referred for genetic counseling and had BRCA testing at that time. Recently, I was diagnosed with breast cancer again. When I went to see my surgeon, she advised me to have more genetic …
Permanent link to this article: https://inheritedcancer.net/spotlightnlw2016/
A recent study published in the New England Journal of Medicine suggests that PARP-Inhibitors may be of potential use in men who are no longer responding to standard treatments and carry either somatic (i.e., tumor) and/or germline (inherited) mutations in DNA-repair genes (i.e., BRCA1/2, ATM, Fanconi Anemia genes and CHEK2).1 Of 49 men with prostate …
Permanent link to this article: https://inheritedcancer.net/4nlw2016/
Once an individual has had genetic testing for inherited cancer predisposition this information could help their close family members. For example, when a BRCA mutation or a mutation in another inherited cancer gene is found, it is important for close family members (with or without a diagnosis of cancer) to know so they too can …
Permanent link to this article: https://inheritedcancer.net/1nlw2016/
The most common form of inherited ovarian cancer is due to mutations in the BRCA1 and BRCA2 genes, which are present in 10-15% of women with ovarian cancer and lead to an ovarian cancer risk of up to 44% and 27%, respectively. Another set of genes known to raise ovarian cancer risks are the mismatch …
Permanent link to this article: https://inheritedcancer.net/2nlw2016/
Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
Over the last few months, a number of additional genes associated with inherited cancer predisposition have been identified. A few of these genes include: 1) the RECQL gene which appears to be another rare gene involved in inherited breast cancer1; 2) the SMAD9 gene associated with hamartomatous polyposis and ganglioneuromas of the intestinal tract2; 3) …
Permanent link to this article: https://inheritedcancer.net/2nls2015/
A study of almost 20,000 BRCA1 carriers and 12,000 BRCA2 carriers demonstrated differences in breast and ovarian cancer risks depending on the location and type of mutation. Although all regions are associated with increased risk for breast and ovarian cancers among BRCA1/2 carriers, there were specific regions that were associated with even higher cancer risks. …
Permanent link to this article: https://inheritedcancer.net/4nls2015/
A study of over 1800 individuals with a mutation in one of the Lynch Syndrome genes was recently completed to assess whether aspirin and ibuprofen use may reduce colon cancer risk. Results showed that in those who took aspirin or ibuprofen for between 1 month and 4.9 years, the colon cancer risks were lower than …
Permanent link to this article: https://inheritedcancer.net/6nls2015/
Through a recent study of over 12,000 Polish women with breast cancer, PALB2 mutations were detected in almost 1%. In this study, about one third of those with a PALB2 mutation had triple negative (lacking estrogen, progesterone and HER2 receptors) breast cancer and the average age at breast cancer diagnosis was 53.3 years. Breast tumors …
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The following question was addressed to Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Over the course of his career, he has profoundly shaped …
Permanent link to this article: https://inheritedcancer.net/5nls2015/
Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines For breast cancer screening in BRCA carriers, yearly MRI is recommended starting at age 25; mammograms may be considered in instances where MRI is unavailable or individualized based on earliest age of onset in the family. From age 30-75, annual mammogram and breast MRI is recommended. Above age …
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Genetic/Familial High-Risk Assessment: Colorectal Guidelines Recommendation that tumors from newly diagnosed colorectal cancer patients be screened for Lynch syndrome (called “Universal Tumor Screening”). A new algorithm was created for Routine Tumor Testing Criteria for Lynch Syndrome Surveillance/Management recommendations were refined by gene for the various Lynch Syndrome genes. Management recommendations were refined for other inherited …
Permanent link to this article: https://inheritedcancer.net/6nlw2015/
Following the publication of an important article in the New England Journal of Medicine (NEJM) in August 2014, germline PALB2 gene mutations were confirmed as the third most important gene for inherited breast cancer, following BRCA1 and BRCA2.1 PALB2 stands for “partner and localizer of BRCA2” and is located on chromosome 16. Studies suggest that PALB2 mutations …
Permanent link to this article: https://inheritedcancer.net/1nlw2015/
More frequently, cancer drugs are being developed to treat tumors based on their molecular make-up. PARP inhibitors are the first class of drugs specifically developed to treat BRCA-related tumors through targeting the DNA repair pathway. The PARP Inhibitors target this pathway and cause cancer cells to die while healthy cells are spared. Although PARP inhibitors …
Permanent link to this article: https://inheritedcancer.net/2nlw2015/
New inherited cancer genes continue to be discovered with the exciting advances made possible through next-generation sequencing technologies. Recent studies identified that the POL genes predispose to inherited colorectal cancer.1,2,3 In one study, Niemenen and colleagues studied a four-generation family with Lynch Syndrome with no evidence of mismatch repair deficiency.2 Through various means (including genetic …
Permanent link to this article: https://inheritedcancer.net/4nlw2015/
The following question was addressed to Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Over the course of his career, he has profoundly shaped …
Permanent link to this article: https://inheritedcancer.net/3nlw2015/
Although oral contraceptives (OC) reduce the risk of ovarian cancer in BRCA carriers,1 it is possible that they may raise breast cancer risk. Thus it is important to understand whether age at OC use is a factor when determining impact on breast cancer risk. To address this question, a recent study (which included data from …
Permanent link to this article: https://inheritedcancer.net/2nls2014/
Since the discovery of the BRCA genes about two decades ago, a number of studies have reported on factors that may modify cancer risks in those who carry gene mutations. Recently, results of previously published studies were collected through a comprehensive literature review to estimate the overall effects of various risk modifiers in BRCA carriers. …
Permanent link to this article: https://inheritedcancer.net/3nls2014/
Over the last few years, there have been studies to suggest that men with Lynch Syndrome may have a higher risk for developing prostate cancer.1,2,3,4,5 The results of these studies have differed as to whether there is an association with an aggressive form of disease. For example, some studies report the risk of developing prostate …
Permanent link to this article: https://inheritedcancer.net/6nls2014/
Over the last few years, there have been a number of studies to suggest that men with BRCA mutations, particularly BRCA2, have a higher risk of developing aggressive prostate cancer. It remains uncertain whether these men might benefit from screening through the prostate-specific antigen (PSA) test. Within the last few years, PSA screening guidelines in …
Permanent link to this article: https://inheritedcancer.net/1nls2014/
The following question was addressed by Dr. Steven Narod who is a Tier I Canada Research Chair in Breast Cancer and a senior scientist at Women’s College Research Institute in Toronto, Canada. Dr. Narod is a world-leader in the field of breast and ovarian cancer genetics. Over the course of his career, he has profoundly shaped …
Permanent link to this article: https://inheritedcancer.net/5nls2014/
A recent study published in the Journal of Clinical Oncology reported that prophylactic oophorectomy resulted in reducing the risk of ovarian cancer by 80%, and reduced all-cause mortality by 77%.1 The authors reported results on almost 5800 women, of whom 186 developed either ovarian, fallopian tube or peritoneal cancer. Women who had bilateral oophorectomy had …
Permanent link to this article: https://inheritedcancer.net/4nls2014/
Cowden Syndrome is an inherited condition that leads to higher risks for breast and thyroid cancer, and possibly other cancers.1 There have been a few recent studies that suggest that this condition also puts individuals at a higher risk for kidney cancer. Specifically, Tan et al2 reported a lifetime risk of 30.6% (95% CI: 17.8-49.4) …
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There have been suggestions that Tamoxifen may reduce risks for contralateral breast cancer (i.e., breast cancer in the other breast) in BRCA carriers if taken after the initial breast cancer diagnosis, based mainly on retrospective studies. Only one prospective study has looked at this question, and showed that Tamoxifen may be useful in BRCA2, but …
Permanent link to this article: https://inheritedcancer.net/2nlw2014/
The following question was addressed by Dr. Laronga who is a breast surgeon based at the Moffitt Cancer Center: Q. What are the risks of breast cancer after ovarian cancer in BRCA carriers? What risk management options are recommended? A. BRCA carriers remain at a higher risk of breast cancer, even after having ovarian cancer; …
Permanent link to this article: https://inheritedcancer.net/4nlw2014/
It has been established that women who carry a germline BRCA mutation face breast cancer risks of 60-70% in their lifetime. After an initial breast cancer diagnosis, these women face a high risk for contralateral breast cancer. Some women with BRCA mutations move forward with contralateral mastectomy when they develop their first breast cancer diagnosis (as …
Permanent link to this article: https://inheritedcancer.net/1nlw2014/
While there are specific recommendations against BRCA testing for minors,1 guidelines are less clear about whether parents should share their own test results with their children. Because there are no recommended surveillance or risk reduction options prior to age 25 for known BRCA mutation carriers, there has been debate about balancing the benefits of sharing …
Permanent link to this article: https://inheritedcancer.net/2nls2013/
Recently, the USPSTF released updated draft guidelines in April 2013 (from those previously published in 2005) for inherited breast and ovarian cancer due to germline BRCA1 and BRCA2 gene mutations.1 USPSTF is comprised of primary care providers who review the available literature and issue guidelines about risk assessment, testing and management based on available evidence. …
Permanent link to this article: https://inheritedcancer.net/4nls2013/
Over the last few years, a number of studies have suggested that men with germline BRCA mutations (especially BRCA2) have poorer outcomes when they develop prostate cancer. In fact, a recent study of 2019 patients with prostate cancer, including 18 BRCA1 carriers, 61 BRCA2 carriers, and 1940 noncarriers indicated that germline mutations were more frequently …
Permanent link to this article: https://inheritedcancer.net/3nls2013/
Prior studies have indicated that removal of the ovaries and fallopian tubes reduces the ovarian cancer risk by ~80% and breast cancer risk by ~50%, particularly when performed pre-menopausally. However a recent case control study of 2854 pairs of women with a BRCA1 or BRCA2 mutation with or without breast cancer showed that the risk …
Permanent link to this article: https://inheritedcancer.net/5nls2013/
In a landmark decision regarding the patenting of human genes on Thursday June 13, 2013, the Supreme Court of the United States unanimously ruled that human genes may not be patented. The case specifically concerned the BRCA1 and BRCA2 gene patents, held by the Utah-based company, Myriad Genetics. In the ruling, Justice Clarence Thomas wrote for the …
Permanent link to this article: https://inheritedcancer.net/1nls2013/
The following question was addressed by Dr. Pal, who is a Clinical Geneticist based at the Moffitt Cancer Center: Q. Does exposure to radiation increase breast cancer risk in BRCA mutation carriers? A. A number of studies have been conducted to evaluate whether BRCA mutation carriers may be more prone to radiation-induced breast cancer than …
Permanent link to this article: https://inheritedcancer.net/6nls2013/
The following question was addressed by Dr. Lora Thompson, a Clinical Psychologist at the Moffitt Cancer Center: Q. How do I talk to family members about my genetic test results? A. The ability to share risk information with family members is a common reason why many individuals undergo genetic testing. Family members may feel appreciative …
Permanent link to this article: https://inheritedcancer.net/4nlw2013/
Over the last few years, there has been evidence to suggest that a substantial proportion of ovarian cancer may start in the fallopian tubes, although some cancer clearly arises in the ovary. As a result, removal of both fallopian tubes (called ‘bilateral salpingectomy’) has been suggested as an interim procedure to reduce risk in BRCA …
Permanent link to this article: https://inheritedcancer.net/2nlw2013/
Some evidence suggests that individuals with BRCA mutations who develop pancreatic cancer may benefit from specific chemotherapy regimens. In a recent review of this topic, Kim et al reported on a study of 5 patients with BRCA mutations (4 BRCA2 and 1 BRCA1) who were treated with a platinum-based chemotherapy regimen.1 Of these patients, 3 …
Permanent link to this article: https://inheritedcancer.net/1nlw2013/
The cancer spectrum typically seen in individuals with Lynch Syndrome includes cancers of the colon, endometrium, ovary, stomach, and other cancers (including cancer of the renal pelvis, ureter, small bowel and pancreas). The issue of whether breast cancer risk is elevated in those with Lynch syndrome has been controversial, with conflicting results between various studies. …
Permanent link to this article: https://inheritedcancer.net/3nlw2013/
The following questions were addressed by Drs. Pal and Lancaster at the Moffitt Cancer Center: Q. What are the risks of hormone replacement therapy (HRT) on breast cancer risk in women with BRCA mutations? A. Concern about HRT in BRCA carriers is its potential to raise the risk of breast cancer, as seen in the …
Permanent link to this article: https://inheritedcancer.net/4nls2012/
Data from a population-based study was recently reported to estimate breast cancer risk among family members who tested negative for a known BRCA1/2 family mutation (i.e., non-carriers). The study included 3047 women diagnosed with breast cancer. Results from the study indicated there was no increased risk for breast cancer in non-carriers as compared to family …
Permanent link to this article: https://inheritedcancer.net/3nls2012/
Genetic testing for inherited cancer predisposition is typically performed by testing for one condition at a time. However, with the tremendous advances in genetic testing technologies over the last few years, the cost of testing has plummeted. To put this into perspective, the first human genome cost 2-3 billion dollars to sequence and took over …
Permanent link to this article: https://inheritedcancer.net/1nls2012/
The following questions were addressed by Drs. Pal and Lancaster at the Moffitt Cancer Center: Q. What are the recommendations for screening following prophylactic surgeries? A. In BRCA mutation carriers, bilateral prophylactic mastectomy reduces the risk of breast cancer by over 90%. It essentially lowers the risk of breast cancer to below that of the …
Permanent link to this article: https://inheritedcancer.net/5nls2012/
Over the last few years, there have been several studies that suggest that men with BRCA mutations are at a higher risk for developing and dying from aggressive prostate cancer. It is possible that PSA testing may be of benefit in men with BRCA mutations. However, until the utility of PSA is determined in these …
Permanent link to this article: https://inheritedcancer.net/2nls2012/
We are fortunate to have Dr. Alvaro Monteiro, who is a molecular geneticist and expert on the BRCA1 and BRCA2 genes, as a member of our team. For our first ICARE newsletter, Dr. Monteiro teaches us about Variants of Uncertain Significance. Q. What is a Variant of Uncertain Significance (VUS) test result? How do researchers …
Permanent link to this article: https://inheritedcancer.net/1nls2011/
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