ICARE Newsletter Summer 2020

Community Spotlight

PTEN is one of the body’s tumor suppressor genes, which controls cell growth. When a PTEN mutation is present, cells may grow uncontrollably, causing tumors to develop that may become cancerous. A patient born with a PTEN mutation is at high risk for developing breast, thyroid, kidney, colon, and endometrial cancer. My PTEN journey began after being diagnosed with thyroid cancer in 2009. This diagnosis, along with breast health issues and a family history of breast cancer, raised health concerns prompting me to consult a skilled genetic counselor where I learned I have a rare and underdiagnosed disease known as Cowden Syndrome or PTEN Hamartoma Tumor Syndrome (PHTS).

I was relieved to have a diagnosis yet overwhelmed about what would come next. Since the diagnosis, I have had two melanoma removal surgeries, a preventative hysterectomy, and preventative mastectomies. I also have annual colonoscopies due to polyposis (a PTEN outcome) and preventive kidney screenings. With hereditary cancer syndromes, it’s essential to stay a step ahead; knowledge is power. I found that many physicians in my community had very little understanding of Cowden Syndrome and that getting a diagnosis is difficult. That, coupled with lack of educational information about PHTS, motivated me to start the PHTS Foundation in December 2013. I want people to know that if they have a large head and family history of cancer or autism, that is enough to consult their physician for PTEN testing. Patients are their own best advocates.

As a three-time cancer survivor and President of the PHTS Foundation, I work to raise funds for PHTS research and educate the public about PHTS. In my role, I am a twice-nominated Global Genes Champion of Hope, a top 10 Wego patient leader hero, and an inaugural member of Alabama’s Rare Disease Advisory Council appointed by Governor Ivy. I was invited by Europe’s Orphanet group to provide PHTS expertise for their disability project, and consistently work to advocate for PTEN families and all in the rare disease and hereditary cancer community by speaking about the importance of the patient experience and lobbying for policies that will benefit patients and families affected by genetic cancer syndromes. I am fortunate to have received top-notch care thus far, including current care by Dr. Galen Perdikis and the VUMC Breast Center care team for recent breast implant removal to DIEP breast reconstruction.

– Kristin Anthony, President and Founder of the PTEN Hamartoma Tumor Syndrome Foundation, from Huntsville, AL

ICARE Social Media Post July 2020

BRCA1/2 and Other Gene Carriers with Breast Cancer Don’t Always Receive Recommended Treatment

BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines.

Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful.

These findings highlight the need for using this information better to help guide appropriate breast cancer treatment, including radiation treatment and chemotherapy.

Check out the full article at https://jamanetwork.com/journals/jamaoncology/fullarticle/2760433.

ICARE Newsletter Winter 2018

Updates to NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian Guidelines

(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 carriers, language regarding age of risk-reducing salpingo-oophorectomy (surgical removal of one or both ovaries and fallopian tubes) was updated to indicate that it may be delayed to age 40-45
  • The table for other inherited breast and ovarian cancer genes was updated per the recent advances.

For the complete updated versions of the NCCN Guidelines, please visit NCCN.org

ICARE Newsletter Summer 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (“multi-gene panel testing”) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene panel testing, associations between mutations in specific genes with breast and ovarian cancers were evaluated. Findings indicated that 8 genes were associated with breast cancer and 11 genes were associated with ovarian cancer. Most had previously been confirmed in association with breast cancer, including ATM, BRCA1, BRCA2, CHEK2, PALB2, PTEN, and TP53. An additional newer gene, BARD1, was also found to be associated with breast cancer in this dataset, but remains a gene for which data continues to emerge to help determine whether a true association with breast cancer exists.  Similarly, for ovarian cancer, most genes identified to have an association were consistent with data from prior studies, including BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, STK11, RAD51C, and RAD51D. Additional genes that were shown to have an association with ovarian cancer in this dataset included ATM and NBN, however additional research is needed to determine if an association with ovarian cancer truly exists. Ultimately, there remains a great need to continue to evaluate cancer risks for inherited genes for which we have limited information about level of risk and types of associated cancer.

Kurian et al. JCO Precision Oncology. 2017 :1, 1-12

ICARE Newsletter Summer 2016

Risk of Second Cancers Among Those with PTEN Mutations

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 of the breast (almost 9-fold), thyroid (almost 6-fold), and uterus (14-fold). These findings reiterate the importance of cancer risk management options among PTEN mutation carriers in order to detect cancers early or prevent them altogether.

Ngeow J, et al. J Clin Oncol. 2014 Jun 10;32(17):1818-24. PMID: 24778394.

ICARE Newsletter Summer 2015

2015 NCCN Clinical Practice Guideline Update

Breast and Ovarian Management Based on Genetic Test Resultsa


Recommend Breast MRIc
(>20% lifetime risk of breast cancerd)

Recommend Risk-reducing salpingo-oophorectomy Discuss Option of Risk-reducing mastectomy
Intervention warranted based on gene and/or risk level ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 BRCA1, BRCA2, Lynch syndromee BRCA1, BRCA2, CDH1, PTEN, TP53
Insufficient evidence for











Note: To access full guidelines document, refer to www.nccn.org

aOther genes may be included in mutli-gene testing. cSee NCCN Guidelines for Breast Cancer Screening and Diagnosis.  dMay be modified based on family history or specific gene mutation. eSee NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal.

ICARE Newsletter Winter 2014

Recent Evidence to Suggest That Individuals with Germline Mutations in the PTEN gene (Which Leads to Cowden Syndrome) May Have Higher Renal Cancer Risks

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) for kidney cancer. More recently, two additional studies also suggested higher risks of kidney cancer,3,4 although not as high as reported in the Tan study. Based on this data, authors of these studies have suggested individuals with Cowden Syndrome might consider yearly renal ultrasounds around the age of 40 (or alternatively, 10 years earlier than the earliest diagnosis in the family).

1. Pilarski R. J Genet Couns. 2009 Feb;18(1):13-27. PMID: 18972196.2. Bubien V et al. J Med Genet. 2013 Apr;50(4):255-63. PMID: 23335809.3. Tan MH et al. Clin Cancer Res. 2012 Jan 15;18(2):400-7. PMID: 2225225 4. Nieuwenhuis MH et al. Fam Cancer.2013 Aug 11. PMID: 23934601.