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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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126 hot topic(s) found with the query "Breast and ovarian cancer "

Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.
Fangjian Guo et al. JAMA Netw Open 2024 2 (2) e2356078 (Posted: Feb 15, 2024 9AM)

From the abstract: "Is a population-wide genetic testing strategy more cost-effective than the current family history–based testing strategy for breast and ovarian cancer prevention? This economic evaluation found that population-based BRCA1, BRCA2, and PALB2 testing among unselected women was cost-effective for the prevention of breast and ovarian cancer and remained cost-effective in extensive 1-way sensitivity analyses. Population-wide genetic testing was 100% cost-effective for all the simulations in probabilistic sensitivity analyses; it became cost-inefficient only when the cost of the test exceeded a certain threshold ($825). The findings support the need for a shift toward more comprehensive genetic testing strategies to identify pathogenic variant carriers and enable informed decision-making for personalized risk management. "

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants – an Asian study of 572 families
WK Ho et al, Lancet Regional Health, February 2024 (Posted: Feb 06, 2024 1PM)

From the abstract: " Clinical management of Asian BRCA1 and BRCA2 pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) and ovarian cancer (OC) risks estimates. We aimed to refine these estimates using six multi-ethnic studies in Asia. We found that the absolute age-specific cancer risks of Asian carriers vary depending on the underlying population-specific cancer incidences, and hence should be customised to allow for more accurate cancer risk management."

Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure
J Nolan et al, Genetics in Medicine, December 19, 2023 (Posted: Dec 20, 2023 9AM)

From the abstract: "The UK 100,000 Genomes Project offered participants screening for additional findings (AFs) in genes associated with familial hypercholesterolemia (FH) or hereditary cancer syndromes including breast/ovarian cancer (HBOC), Lynch, familial adenomatous polyposis, MYH-associated polyposis, multiple endocrine neoplasia, von Hippel-Lindau. Here we report disclosure processes, manifestation of AF-related disease, outcomes and costs. "

Combined population genomic screening for three high-risk conditions in Australia: a modelling study
P Lacaze et al, e Clin Medicine, November 2023 (Posted: Nov 11, 2023 4PM)

From the abstract: "This modeling study assessed the impact of offering combined genomic screening for hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia to all young adults in Australia, compared with the current practice of clinical criteria-based testing for each condition separately. Our findings suggest that offering combined genomic screening for high-risk conditions to young adults would be cost-effective in the Australian public healthcare system, at currently realistic testing costs. "

Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer.
Silvia Actis et al. J Community Genet 2023 9 (Posted: Sep 21, 2023 2PM)

From the abstract: "We analyzed socio-demographic and psychological parameters associated with the decision to undergo BRCA1/2 genetic testing or the reasons behind the withdrawal. Thirty-nine patients underwent BRCA1/2 genetic testing. Patients who accept the genetic test communicate more easily with family members than those who refuse. Factors associated with test refusal are having a long-term partner and having a negative perception of life. There is a trend, although not statistically significant, toward younger age at cancer diagnosis, more likely to participate in cancer screening programs (71.8% vs. 45.5%), and more likely to have daughters (63.3% vs. 37.5%) in the group that accepted the test. "

Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities
L Shi et al, CDC Blog Post, July 25, 2023 Brand (Posted: Jul 25, 2023 11AM)

Two recent studies document ongoing underutilization and disparities in genetic testing for patients with breast and ovarian cancer. The two studies demonstrate the importance of population-level data to track progress in implementation, outcomes, and disparities in genomic medicine. The studies also show how diverse data sources, such as state-based cancer registries, laboratory, EHR, administrative claims, and survey data, each with its own strengths and limitations, can be used to help build the evidence base on genetic testing utilization and disparities.

Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
A Rosen et al, EJHG, July 20, 2023 (Posted: Jul 20, 2023 7AM)

Germline genetic testing often has implications not only for the individual patient but also for their genetic relatives. This is especially true for high-penetrance pathogenic variants associated with conditions such as familial hypercholesterolemia and hereditary cancer risk syndromes like Lynch syndrome and the hereditary breast and ovarian cancer syndrome. For these conditions, targeted prevention programs are available, and cascade screening is cost-effective. It is therefore highly relevant to find effective strategies to disclose information from the genetic investigation to healthy relatives at risk. Informing relatives at risk enables equitable access to pre-test genetic counselling and a possibility for them to make an informed decision about genetic testing as well as prevention.

The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis
ND Rao et al, CDC Blog Post, July 14, 2023 Brand (Posted: Jul 14, 2023 1PM)

Initial cost-effectiveness research suggests that simultaneous population genomic screening for three CDC Tier 1 genomic applications (hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia) can be cost effective and reduce morbidity and mortality if implemented in adults younger than 40 years old, costs of screening tests are low, and those found carrying a pathogenic variant have access to preventive care.

Germline Genetic Testing After Cancer Diagnosis.
Allison W Kurian et al. JAMA 2023 6 (Posted: Jun 06, 2023 8AM)

Among patients in the Surveillance, Epidemiology, and End Results registries diagnosed with cancer between 2013 and 2019, what was the prevalence of germline genetic testing? In this observational study that included 1?369?602 patients diagnosed with cancer in California and Georgia, germline genetic testing after cancer diagnosis was low (6.8%; n?=?93?052). Testing was highest in males with breast cancer (50%) and in patients with ovarian cancer (38.6%). Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black, and Hispanic patients.

Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions.
et al. Ann Intern Med 2023 5 (5) I19 (Posted: Jun 02, 2023 9AM)

Patients who have certain genetic test results are at higher risk for diseases that may be preventable. There is ongoing debate about whether physicians should screen for 3 hereditary conditions: Lynch syndrome (at greater risk for colon cancer), hereditary breast and ovarian cancer, and familial hypercholesterolemia (at greater risk for early heart disease and stroke). This modeling study found that screening for these 3 hereditary conditions is likely cost-effective in U.S. adults younger than 40 years if the testing cost is relatively inexpensive and people have access to preventive care.

Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Gregory F Guzauskas et al. Ann Intern Med 2023 5 (Posted: May 09, 2023 5AM)

The cost-effectiveness of screening the U.S. population for Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions is unknown. We estimated the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH). We found that population genomic screening with a restricted panel of high-evidence genes is likely to be cost-effective in U.S. adults younger than 40 years if the testing cost is relatively low and probands have access to preventive interventions.

Offering genetic testing at the point of care may increase uptake
Medical Xpress, May 3, 2023 (Posted: May 05, 2023 10AM)

Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. But fewer than 20 percent of at-risk patients utilize this testing, and even fewer engage in genetic counseling after referral, often due to clinical workflow challenges or barriers to care. A new study researchers haveidentified a streamlined approach in clinical settings that may help advance these efforts by simplifying the process of identifying hereditary cancer risk and determining subsequent care.

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population.
Georgina L Fenton et al. J Genet Couns 2017 12 (2) 370-380 (Posted: May 04, 2023 6AM)

This study aimed to develop an online educational program for using PRS for breast and ovarian cancer risk-assessments and evaluate the impact on genetic healthcare providers’ (GHP) attitudes, confidence, knowledge, and preparedness. The educational program comprised of an online module covering theoretical aspects of PRS, and a facilitated virtual workshop with pre-recorded roleplays and case discussions. Data were collected in pre-and post-education surveys.

Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows
C Wang et al, Genetics in Medicine, February 10, 2023 (Posted: Feb 11, 2023 0PM)

This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program, implemented at 27 health care sites in 10 States using one of four clinical workflows: 1) traditional referral, 2) point-of-care scheduling (POC-S), 3) point-of care counseling/telegenetics (POC-C), and 4) point-of-care testing (POC-T). In 2019, 102,542 patients were screened and 33,113 (32%) were identified as high risk and meeting National Comprehensive Cancer Network (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer, Lynch syndrome or both. Among those identified at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake was 11% among sites with workflows that included seeing a genetic counselor prior to testing.

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort
M Sarki et al, J Per Med, October 19, 2022 (Posted: Oct 20, 2022 8AM)

Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (-) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs.

Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
G Elhanan et al, Frontiers in Genetics, April 2022 (Posted: May 26, 2022 7AM)

The clinical value of population-based genetic screening projects depends on the actions taken on the findings. The Healthy Nevada Project (HNP) is an all-comer genetic screening and research project based in northern Nevada. HNP participants with CDC Tier 1 findings of hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), or familial hypercholesterolemia (FH) are notified and provided with genetic counseling. However, the HNP subsequently takes a “hands-off” approach: it is the responsibility of notified participants to share their findings with their healthcare providers, and providers are expected to implement the recommended action plans.

Paired Tumor-Germline Testing as a Driver in Better Cancer Care
JW Henson et al, JAMA Network Open, May 20, 2022 (Posted: May 21, 2022 2PM)

Paired tumor-germline testing can lead to better treatment choices. Hereditary cancer syndromes are caused by inactivated tumor suppressor genes. By comparison, activated oncogenes are poorly tolerated during embryonic development. Variant tumor suppressor genes and their inactive protein products are more challenging to target than are activated oncogenes. Attention thus turns from the gene itself to the aberrant downstream molecular pathway and subsequent effects of the pathway. Two notable examples are the use of checkpoint inhibitors to target high tumor mutation burdens from tumors related to a defective mismatch repair pathway (ie, Lynch syndrome when originating in germline) and poly adenosine diphosphate ribose polymerase inhibitors to exploit single-strand breaks from tumors related to the homologous repair/BRCA pathway (ie, hereditary breast and ovarian cancer syndrome when originating in germline).

A Mini-Symposium: Implementing Precision and Equitable Public Health in Cascade Testing for Genetic Disorders
CDC event, Feb 10, 2022 Brand (Posted: Dec 13, 2021 2PM)

While there are Tier 1 evidence-based guidelines supporting cascade testing for hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial hypercholesterolemia, and other genetic disorders, the focus is on whether such testing should be done, rather than how to implement cascade testing in practice, both effectively and equitably. Before the full potential health impact of cascade genetic testing can be reached, we must develop a much stronger understanding of which component procedures and practices work best, and then leverage those good practices toward delivering precision public health. This two-hour virtual mini-symposium will explore several efforts to better understand what works well in programs relevant to cascade testing for genetic disorders.

Health Equity and Genetic Disorders
CDC, August 2021 Brand (Posted: Sep 01, 2021 7AM)

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Association of Genetic Testing Results with Mortality Among Women with Breast Cancer or Ovarian Cancer.
Kurian Allison W et al. Journal of the National Cancer Institute 2021 8 (Posted: Aug 23, 2021 7AM)

Breast cancer and ovarian cancer patients increasingly undergo germline genetic testing. However, little is known about cancer-specific mortality among carriers of a pathogenic variant (PV) in BRCA1/2 or other genes in a population-based setting. Georgia and California Surveillance Epidemiology and End Results (SEER) registry records were linked to clinical genetic testing results. Among breast cancer and ovarian cancer patients treated with chemotherapy in the community, BRCA1/2 and other gene PV carriers had equivalent or lower short-term cancer-specific mortality than non-carriers

BRCA2: a 25-year journey from gene identification to targeted cancer treatment.
Grinda Thomas et al. The Lancet. Oncology 2021 6 (6) 763-764 (Posted: Jun 06, 2021 7AM)

BRCA2 is the leading susceptibility gene for breast and ovarian cancer, with cumulative risks at age 80 years of up to 69% and 17%, respectively. Germline BRCA2 alterations can be found in around 2·5% of unselected patients with breast cancer and 6% of patients with ovarian cancer. To a lesser extent, deleterious BRCA2 variants also increase the risk of other cancers, including prostate, esophagus, and pancreatic cancer.

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
M Tishkowitz et al, Genetics in Medicine, May 11, 2021 (Posted: May 12, 2021 8AM)

PALB2 heterozygotes should be offered BRCA1/2-equivalent breast surveillance. Risk-reducing mastectomy can be considered guided by personalized risk estimates. Pancreatic cancer surveillance should be considered, but ideally as part of a clinical trial. Typically, ovarian cancer surveillance is not recommended, and risk-reducing salpingo-oophorectomy should only rarely be considered before the age of 50. Given the mechanistic similarities, PALB2 heterozygotes should be considered for therapeutic regimens and trials as those for BRCA1/2.

The ten genes for breast (and ovarian) cancer susceptibility.
Foulkes William D et al. Nature reviews. Clinical oncology 2021 3 (Posted: Mar 15, 2021 4PM)

ATM, BRCA1, BRCA2, CHEK2, PALB2 and TP53 are all established breast cancer susceptibility genes. Over the past 30 years, many other genes have been proposed as candidates. In these two large studies, the candidacy of several questionable genes has been largely resolved, and a final list of ten genes for breast and, importantly, ovarian cancer risk has emerged.

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.
Baroutsou Vasiliki et al. Cancers 2021 13(4) (Posted: Mar 09, 2021 9AM)

The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. 14 articles met the inclusion criteria and were included in the narrative synthesis.

Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean
SHL George et al, JAMA Network Open, March 1, 2021 (Posted: Mar 02, 2021 8AM)

This genetic association study included 1018 adult women and men with breast and ovarian cancer, of which 144 individuals had a pathogenic variant in a moderate- to high-risk gene. This finding was consistent with high rates of premenopausal breast cancer in Black women with Caribbean ancestry.

Preliminary Screening for Hereditary Breast and Ovarian Cancer Using a Chatbot Augmented Intelligence Genetic Counselor: Development and Feasibility Study.
Sato Ann et al. JMIR formative research 2021 Feb 5(2) e25184 (Posted: Feb 09, 2021 10AM)

This study's objective is to develop a chatbot system that uses augmented intelligence for HBOC screening to determine whether patients meet BRCA1/2 testing criteria. The system was evaluated by a doctor specializing in genetic medicine and certified genetic counselors. We prepared 3 scenarios and created a conversation with the chatbot to reflect each one. Then we evaluated chatbot feasibility, the required time, accuracy of conversations and family history, and the final result.

How to Live With the Cancer You May Never Get-The waiting game is a different experience for every woman with a BRCA gene mutation
Elemental, November 6, 2020 (Posted: Nov 07, 2020 10AM)

Mutations of the BRCA genes are inherited — parents have a 50% chance to pass it on — and many people discover they have it when a family cancer cluster triggers testing: Margaret and her sister and brother all got tested when their mother was diagnosed with breast cancer. A mutation of the BRCA1 gene gives carriers a 72% chance of developing breast cancer and a 44% chance of ovarian cancer, whereas BRCA2 triggers a 69% chance of breast cancer and a 17% chance of ovarian cancer.

Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States
GF Gusauskas et al, JAMA Network Open, October 29, 2020 (Posted: Oct 29, 2020 11AM)

his decision analytical model study found that genomic screening for HBOC among unselected women may be cost-effective depending on the age distribution of the women screened. Cascade testing of first-degree relatives added a modest improvement in clinical and economic value.

Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
Green Ridgely Fisk et al. Public health genomics 2020 Sep 1-12 (Posted: Sep 18, 2020 9AM)

We identified state health agency activities addressing hereditary breast and ovarian cancer and Lynch syndrome by reviewing project narratives from Centers for Disease Control and Prevention Cancer Genomics Program funding recipients, leading discussions with state health agencies, and conducting an environmental scan.

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
AC Fahed et al, Nature Communications, August 20, 2020 (Posted: Aug 21, 2020 9AM)

We study 80,928 individuals to examine whether polygenic background can modify penetrance of disease in tier 1 genomic conditions — familial hypercholesterolemia, hereditary breast and ovarian cancer, and Lynch syndrome. Among carriers of a monogenic risk variant, we estimate substantial gradients in disease risk based on polygenic background — the probability of disease by age 75 years ranged from 17% to 78% for coronary artery disease, 13% to 76% for breast cancer, and 11% to 80% for colon cancer.

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
DR Barnes et al, Genetics in Medicine, July 15, 2020 (Posted: Jul 17, 2020 11AM)

We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for 18,935 BRCA1 and 12,339 BRCA2 pathogenic variant carriers of European ancestry. PRS are strongly associated with BC and EOC and predict substantial absolute risk differences at PRS distribution extremes.

Updates in BRCA testing for People of Ashkenazi Jewish Ancestry
L Steinmark, Jackson Labs, May 3, 2020 (Posted: May 07, 2020 8AM)

For the past few decades, genetic providers and researchers have recognized the importance of the three BRCA founder mutations and were able to test specifically for them in individuals at risk, defined as having Ashkenazi ancestry and a personal or family history of breast and/or ovarian cancer.

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History
AP Patel, JAMA Network Open, April 29, 2020 (Posted: Apr 30, 2020 8AM)

In this cohort study of 49?738 participants in the UK Biobank, a pathogenic or likely pathogenic variant associated with the 3 tier 1 genomic conditions (BRCA, Lynch syndrome, FH) was identified in 0.9% of participants. These individuals had an increased risk of disease identified by gene sequencing that was not found through self-reported family history.

Mayo genomic database to use sequencing for 100K participants
G Slabodkin, Health Data Management, January 10, 2020 (Posted: Jan 13, 2020 9AM)

The Mayo Clinic will build a library of genomic sequencing data on 100,000 volunteers, who will be initially screened for three hereditary conditions.Participants in the first part of the study—called Tapestry—will receive screening results for familial hypercholesterolemia, hereditary breast and ovarian cancer (BRCA1 and BRCA2), and Lynch syndrome.

Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer
HK Kim, J Hum Genetics, January 2020 (Posted: Jan 13, 2020 9AM)

New PARP Inhibitor Approval for Pancreatic Cancer
L Schlager, FORCE, January 6, 2020 (Posted: Jan 07, 2020 8AM)

The Food and Drug Administration approved olaparib– a type of targeted therapy known as a PARP inhibitor—for treatment of metastatic pancreatic cancer in people with a BRCA mutation. PARP inhibitors have been approved to treat ovarian cancer since 2014, and to treat metastatic breast cancer patients with a BRCA mutation since 2018.

Heartbreaking News, Then Tumor Find Leads to Genetic Testing
V Hackethal, Medscape, December 27, 2019 (Posted: Dec 29, 2019 8AM)

Genetic testing for breast and ovarian cancer has not always been straightforward, and fast-moving research means that genetic testing is becoming more and more complex all the time.

A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.
WSJ, December 20,2019 (Posted: Dec 21, 2019 4PM)

Two sisters, their mother and aunts showed a mutation on a BRCA gene and an elevated risk of breast and ovarian cancer

Reducing Disparities in Receipt of Genetic Counseling for Underserved Women at Risk of Hereditary Breast and Ovarian Cancer.
Sutton Arnethea L et al. Journal of women's health (2002) 2019 Nov (Posted: Dec 11, 2019 9AM)

Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov (Posted: Dec 04, 2019 10AM)

Cascade genetic testing (CGT) of hereditary breast and ovarian cancer (HBOC) or Lynch Syndrome (LS) patients' relatives offers opportunities to prevent cancer, but CGT rates are not well described. We aimed to measure reported disclosure of genetic testing results and CGT rates in these families and evaluate patients' views of educational media.

Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
Lerner-Ellis Jordan et al. Journal of medical genetics 2019 Nov (Posted: Dec 03, 2019 8AM)

Our findings indicate that the retesting of BRCA1/2-negative individuals with an expanded panel of 20 breast and ovarian cancer genes can produce clinically relevant results, with a yield of 5.5% for pathogenic variants in genes other than BRCA1 and BRCA2.

CMS Aims to Broaden Coverage for NGS Testing in Breast, Ovarian Cancer -Expansion would include patients with risk factors for inherited susceptibility mutations
I Ingram, MedPage Today, October 31, 2019 (Posted: Nov 05, 2019 9AM)

In a proposed decision memo on Tuesday, the agency stated that sufficient evidence exists to support testing when treating physicians determine that patients with breast and ovarian cancer have clinical indications for germline testing, risk factors for an inherited cancer, and have yet to receive such testing.

General “Take Action” Infographic
CDC Cancer, 2019 Brand (Posted: Oct 08, 2019 8AM)

Lower your risk of hereditary breast and ovarian cancer. Asking relatives about their cancer histories can be hard. Follow these tips: Share that you have learned that cancers can run in families. Explain that you are creating a record of your family’s history of cancer. •Encourage family members to respond in a way that is most comfortable to them.

Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.
Greenberg Samantha et al. Cancer medicine 2019 Sep (Posted: Sep 25, 2019 9AM)

Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.
Manchanda R et al. BJOG : an international journal of obstetrics and gynaecology 2019 Sep (Posted: Sep 18, 2019 9AM)

Unselected population-based BRCA testing provides the opportunity to apply genomics on a population-scale to maximize primary prevention for breast-and-ovarian cancer. The study compared long-term outcomes of Ashkenazi jewish population-based and family-history (FH)/clinical-criteria-based BRCA testing on psychological health and quality of life

Learn Your Family History of Breast and Ovarian Cancer
CDC, 2019 Brand (Posted: Sep 16, 2019 8AM)

Learning your family history of cancer, from both your mother’s and father’s sides, can help you know if you have a higher risk for getting breast or ovarian cancer at a young age.Asking your relatives about their cancer histories can be hard. Here are some tips for talking with your family about this topic.

USPSTF Recommendation Expands Cancer Screening Pool, Concerns Still Remain
KL Kahl, Cure, August 26, 2019 (Posted: Aug 27, 2019 7AM)

Many see the new USPSTF guidelines as a major step forward in genetics. However, the updated recommendation still comes with concerns: It failed to include newly diagnosed patients with breast or ovarian cancer as well as patients with advanced cancers. In addition, it did not include men. Fifty percent of people with a BRCA mutation are men.

Genetic Testing Can Reduce Suffering and Save Lives
L Corduck, AJMC, August 14, 2019 (Posted: Aug 15, 2019 8AM)

I am Oneinforty. In late 2016 at the age of 45, I sought genetic counseling and screening after a friend’s urging. The screening showed I had inherited a BRCA gene mutation, putting my lifetime risk of developing breast cancer between 50% and 80%, and my lifetime risk of developing ovarian cancer (for which there is limited screening) between 40% and 60%.

PARP Inhibitors Hit the Pancreatic Cancer Scene
D Ternyila, Oncology Nursing News, August 9, 2019 (Posted: Aug 13, 2019 8AM)

PARP inhibitors, which have approved indications in breast and ovarian cancer, are expanding to additional treatment paradigms, including pancreatic cancer. Data from the phase III POLO trial showed that PARP inhibitor significantly improved progression-free survival among patients with germline BRCA-mutated metastatic pancreatic cancer.

Infographic: “What Every Young Woman Needs to Know About Hereditary Breast and Ovarian Cancer”
CDC, 2019 Brand (Posted: Jul 17, 2019 9AM)

The 2019 HBOC and Lynch Syndrome Family Day
Michigan Public Health Institute, Register for event, September 21, 2019 (Posted: Jul 12, 2019 8AM)

The 2019 HBOC and Lynch Syndrome Family Day is a patient-focused educational event designed to bring together people and families who have been impacted by hereditary breast and ovarian cancer (HBOC) or Lynch syndrome. Attendees at this free event will learn about hereditary cancer risks and ways to manage risk.

Nevada Health Study Using Genetics To Fight Disease Statewide
N Glick, KUNR, June 28, 2019 (Posted: Jul 01, 2019 1PM)

The Healthy Nevada Project kicked off in 2016, and so far, has around 50,000 participants. Its aim is to eventually reach 1 million people across Nevada. Anyone can sign up, which is what makes it the largest community-based population health study of its kind in the world. For now, the study is looking for three gene variants that are linked to colon cancer, high cholesterol and breast and ovarian cancer.

Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer.
Hurtado-de-Mendoza Alejandra et al. Journal of community genetics 2019 May (Posted: May 22, 2019 8AM)

Consensus guidelines for genetic testing for hereditary breast and ovarian cancer
American Society for Breast Surgeons, February 14, 2019 (Posted: Feb 16, 2019 0PM)

Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
So Min-Kyung et al. Breast cancer (Tokyo, Japan) 2019 Feb (Posted: Feb 12, 2019 10AM)

High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
Bick Ulrich et al. Breast cancer research and treatment 2019 Feb (Posted: Feb 12, 2019 10AM)

Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop.
Nikolaidis Christos et al. Public health genomics 2019 Jan 1-12 (Posted: Jan 30, 2019 9AM)

Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Allen Caitlin G et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2018 Dec (Posted: Dec 09, 2018 4PM)

Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
Frey Melissa K et al. Cancer 2018 Nov (Posted: Dec 04, 2018 10AM)

Personalised medicine and population health: breast and ovarian cancer.
Narod Steven A et al. Human genetics 2018 Oct (Posted: Oct 20, 2018 4PM)

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Rowley Simone M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep (Posted: Sep 27, 2018 7AM)

BRCA1 and BRCA2 Testing in Medically Underserved Medicare Beneficiaries With Breast or Ovarian Cancer
AL Gross et al, JAMA, August 14, 2018 (Posted: Aug 15, 2018 8AM)

Improving comprehension of genetic counseling for hereditary breast and ovarian cancer clients with a visual tool.
Tea Muy-Kheng M et al. PloS one 2018 13(7) e0200559 (Posted: Jul 18, 2018 9AM)

Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.
Yang Shan et al. Annals of surgical oncology 2018 Jul (Posted: Jul 13, 2018 2PM)

Genetic screening can inform women of their breast and ovarian cancer risks
L Abaid, LA Times, July 5, 2018 (Posted: Jul 06, 2018 8AM)

The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.
Menko Fred H et al. Familial cancer 2018 May (Posted: Jun 11, 2018 11AM)

Concurrent risk-reduction surgery in patients with increased lifetime risk for breast and ovarian cancer: an analysis of the National Surgical Quality Improvement Program (NSQIP) database.
Elmi Maryam et al. Breast cancer research and treatment 2018 May (Posted: May 25, 2018 8AM)

National Distribution of Cancer Genetic Testing in the United States- Evidence for a Gender Disparity in Hereditary Breast and Ovarian Cancer
K Childers et al, JAMA Onc, Apr 26, 2018 (Posted: Apr 27, 2018 1PM)

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
F Girardi et al, Genetics in Medicine, Mar 22, 2018 (Posted: Mar 22, 2018 0PM)

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer
DGR Evans, BioRXIV, Jan 2018 (Posted: Jan 22, 2018 1PM)

Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome.
Shaw Josephine et al. Patient education and counseling 2017 Dec (Posted: Jan 03, 2018 10AM)

Professionals' knowledge, attitude and referral behaviour of preimplantation genetic diagnosis for hereditary breast and ovarian cancer.
Gietel-Habets J J G et al. Reproductive biomedicine online 2017 Dec (Posted: Dec 17, 2017 0PM)

Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up
MK Interrante et al, JNCI Cancer Spectrum, Sept 2017 (Posted: Dec 01, 2017 9AM)

Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women
AW Kurian et al, J Precision Oncology, Oct 2017 (Posted: Oct 15, 2017 11AM)

Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer
NCCN Guidelines, October 2017 (Posted: Oct 06, 2017 0PM)

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.
Katapodi Maria C et al. JMIR research protocols 2017 Sep 6(9) e184 (Posted: Sep 27, 2017 10AM)

Practice Bulletin No. 182 Summary: Hereditary Breast and Ovarian Cancer Syndrome.
et al. Obstetrics and gynecology 2017 Sep 130(3) 657-659 (Posted: Aug 30, 2017 9AM)

Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome.
et al. Obstetrics and gynecology 2017 130(3) e110-e126 (Posted: Aug 30, 2017 9AM)

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.
Childers Christopher P et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 Aug JCO2017736314 (Posted: Aug 24, 2017 1PM)

Take Action to Lower Your Breast and Ovarian Cancer Risk
Brand (Posted: Jul 13, 2017 3PM)

Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women
AW Kurian, JCO Precision Oncology, June 27, 2017 (Posted: Jun 28, 2017 0PM)

Age-specific overall risk of breast, ovarian cancer among women with BRCA1/2 genetic mutations
Science Mag, June 20, 2017 (Posted: Jun 25, 2017 3PM)

"When information is not enough": A model for understanding BRCA-positive previvors' information needs regarding hereditary breast and ovarian cancer risk.
Dean Marleah et al. Patient education and counseling 2017 Mar (Posted: Apr 12, 2017 8AM)

Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation.
Müller Dirk et al. The European journal of health economics : HEPAC : health economics in prevention and care 2017 Apr (Posted: Apr 12, 2017 8AM)

Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?
McGee Jacob et al. Gynecologic oncology 2017 Mar (Posted: Mar 22, 2017 10AM)

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.
Daly Mary B et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Jan 15(1) 9-20 (Posted: Jan 11, 2017 9AM)

Tracking the dissemination of a culturally targeted brochure to promote awareness of hereditary breast and ovarian cancer among Black women.
Scherr Courtney Lynam et al. Patient education and counseling 2016 Oct (Posted: Nov 30, 2016 11AM)

Breast and Ovarian Cancer
Brand (Posted: Oct 10, 2016 1PM)

Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.
Oberguggenberger Anne et al. Journal of psychosomatic research 2016 Oct 8939-45 (Posted: Sep 27, 2016 11AM)

Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.
Benusiglio Patrick R et al. Familial cancer 2016 Sep (Posted: Sep 21, 2016 10AM)

Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome.
Trepanier Angela M et al. Healthcare (Basel, Switzerland) 2016 4(1) (Posted: Jul 19, 2016 10AM)

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
Yablonski-Peretz Tamar et al. Breast cancer research and treatment 2016 Jan (1) 133-8 (Posted: Jan 12, 2016 10AM)

SEOM clinical guidelines in Hereditary Breast and ovarian cancer.
Llort G et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2015 Dec 17(12) 956-61 (Posted: Dec 29, 2015 10AM)

The Activities and Impact of State Programs to Address Hereditary Breast and Ovarian Cancer, 2011–2014
K Trivers et al, Healthcare, December 2015 (Posted: Nov 01, 2015 2PM)

Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
Howarth Dt R et al. The American surgeon 2015 Oct (10) 941-4 (Posted: Oct 31, 2015 9AM)

Next-Generation Gene Sequencing: Looking Beyond Hereditary Breast and Ovarian Cancer.
Estrada Sylvia S et al. Oncology nursing forum 2015 Nov (6) 691-4 (Posted: Oct 31, 2015 9AM)

Does Breast or Ovarian Cancer Run in Your Family?
Brand (Posted: Oct 20, 2015 4PM)

Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured PopulationThe ABOUT Study
J Armstrong et al. JAMA Oncology, October 1, 2015 (Posted: Oct 05, 2015 9AM)

Genetic Testing for BRCA Mutations Today and Tomorrow - About the ABOUT Study
S Narod, JAMA Oncology, October 1, 2015 (Posted: Oct 05, 2015 9AM)

Genetic testing all women for breast cancer might not be worth the cost
Science Daily, September 3, 2015 (Posted: Sep 10, 2015 1PM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.