April 20th, 2017
The Cancer Prevention Project 3 (CaPP3) will focus first on finding the right dose of aspirin for people with a mismatch repair gene defect, the underlying cause of Lynch syndrome. Three thousand people who have Lynch syndrome will be invited to take part in this study. On joining the study participants will be asked to provide a blood sample before receiving a supply of aspirin tablets. Participants will take three tablets each day for two years. One will be a dummy tablet and at least one will contain aspirin. We will keep a secret code so that no-one will know whether they are taking 100mg, 300mg or 600mg of aspirin per day. The blood samples will help us to investigate whether some people react differently to aspirin and also whether we can predict, using blood markers, who will develop cancers in the future. Anyone who takes part in CaPP3 will be invited to be part of a national registry which can provide careful follow-up to report side effects and provide detailed information about any cancers or polyps which are found on routine checkups.
April 20th, 2017
The purpose of this study is to try to understand the biology of development of breast, ovarian, fallopian tube, peritoneal or endometrial (uterine) cancer from persons at high genetic risk for these diseases This includes those who have a mutation in one of the following genes: BRCA1, BRCA2, PTEN, CDH1, TP53. The influence of environmental factors on cancer development in individuals and families will be studied. The impact of treatments for these diseases will be evaluated.
April 20th, 2017
Looking for a book about hereditary cancer for yourself, a family member or your child? Here is a list of books recommended on this topic. The UCSF Helen Diller Comprehensive Cancer Center’s Resource Center has a copy of many of these books listed and are available to you free of charge.
April 20th, 2017
By Christina Pedley, MS, LCGC Genetic Counselor at UCSF
Colonoscopies are a wonderful screening tool! A colonoscopy is a procedure where a scope is used to look at the colon. If any growths are seen, they can be removed by the tools on the scope. These growths are what we refer to as a colon polyp*. It is important to keep in mind that not all colon polyps are equal. Some are just normal colon tissue that happened to look a little inflamed that day. Others can be what is called an adenoma, which is often referred to as a precancerous polyp* because we think if left to grow long enough, it could someday turn into a cancer. In this sense colonoscopy is the best tool we have against any cancer because it not only acts as a test to screen for colon cancer, but it can actually prevent colon cancer by removing colon polyps before they have a chance to turn into cancer.
In most people we begin colonoscopies at age 50 and we know that a precancerous polyp takes a long time to turn into a cancer – probably more than 10 years! For this reason, people without a family history of colon cancer are often told they can wait 10 years in between colonoscopies if everything looks normal and no precancerous polyps are found. For most people, waiting 10 years in between colonoscopies will still allow us to catch precancerous polyps before they have a chance to turn into cancer.
However, for individuals with a hereditary colon cancer syndrome*, we know that a precancerous polyp can develop and turn into cancer much faster. We also know that these individuals develop polyps at a much younger age than most people. For example, in patients with Lynch syndrome*, the progression from polyp to cancer can be much faster, so colonoscopy is typically recommended every 1-2 years for adults, perhaps beginning as early as age 20. In patients with FAP/AFAP/MAP*, the progression from polyp to cancer is not necessarily faster, but so many polyps are being made that a colonoscopy every 1-2 years is necessary to keep up with removing all of the polyps that are growing, perhaps beginning as early as age 10 in some families.
For individuals without an identified hereditary colon cancer syndrome, colonoscopies may still be recommended more often based on other features, like the size/number/type of polyps found or family history. For example, a type of polyp called a serrated polyp* can grow from precancerous polyp to cancer more rapidly, so if this type of polyp is found, colonoscopies would be recommended more often than every 10 years. If many of these polyps are found, colonoscopies might even be recommended as often as every 1-2 years.
For individuals with a family history of colon cancer, it is common for colonoscopies to be recommended more often than every 10 years. How often and at what age to start would depend on the age of diagnosis of colon cancer in the family, how closely related that relative is to you, and how many relatives have a diagnosis of colon cancer. For example, if you have a sibling or parent diagnosed with colon cancer under the age of 60, you may be told to start colonoscopies 10 years younger than the age of diagnosis, and do it more often. If my mother had colon cancer diagnosed at age 50, then it would be recommended that I start colonoscopies at age 40, and have one at least every 5 years. This is an extra precaution we take because in the absence of an identified hereditary colon cancer syndrome, we are often unable to say what caused a colon cancer in a family, but we know we can try to prevent it from happening in other family members through colonoscopies. The idea is to be sure to catch any colon polyps while they are still benign.
Colonoscopies are not always the topic of family dinner conversations, but knowing your family history of colon polyps and colon cancer can help prevent colon cancer in other family members. Ask your family members about the results of their colonoscopies and any cancer history in the family. The bottom line is, a family history of colon cancer can help guide your doctors on how often an when to start colonoscopies. In some cases genetic testing can help us with our recommendations as well.
Colonoscopy: a procedure where a scope is used to look at the colon. If any growths are seen, they can be removed by the tools on the scope. It not only acts as a test to screen for colon cancer, but it can actually prevent colon cancer by removing colon polyps before they have a chance to turn into cancer.
Colon polyp: Growths in the colon. Some are just normal colon tissue that happened to look a little inflamed that day; others can be what we call precancerous.
Precancerous polyp: A colon polyps that has the potential to turn into cancer if left long enough. Often these are what we call adenomas.
Hereditary cancer syndrome: a genetic mutation that can be passed down from generation to generation that increases the risk to develop colon cancer and other cancers greatly.
Lynch syndrome: The name for a hereditary increased risk of colon cancer and other cancers caused by mutations in one of the following genes: MLH1, MSH2, MSH6, PMS2 and EPCAM. Men and women with the condition have up to a 75% lifetime risk to develop colorectal cancer. Women also have up to a 71% lifetime risk for endometrial cancer. Persons with Lynch syndrome are also at increased risk for other cancers that include cancer of the urinary tract, ovary, stomach, small intestine, hepatobiliary tract, skin, and brain.
FAP/AFAP/MAP: FAP = Familial Adenomatous Polyposis; AFAP = Attenuated Familial Adenomatous Polyposis; MAP = MUTYH Associated Polyposis. All three are names for a hereditary increased risk to develop hundreds to thousands of colon polyps and a greatly increased risk to develop colon cancer. They are caused by mutations in the genes APC or MUTYH. Other features seen include duodenal polyps, thyroid tumors, gastric fundic gland polyps, and other soft tissue tumors.
Serrated polyp: A type of colon polyp that has a distinctive appearance when viewed under a microscope. Often described as a serrated, or saw-tooth appearance of the crypt lining. They are often considered aggressive and fast-growing polyps.
April 20th, 2017
A study was conducted in the UK where approximately 700 men with metastatic prostate cancer were tested for 20 genes associated with inherited cancer risk.
Inherited mutations in the 20 genes were significantly higher in men with metastatic prostate cancer when compared to men with localized prostate cancer.
Age of onset for metastatic prostate cancer did not show a correlation with the frequency of an inherited mutation.
Family history widely varies among patients with metastatic prostate cancer regardless of if they have an inherited mutation. However, families of patients with metastatic prostate cancer and a history of non-prostate cancers include breast, ovarian, and pancreatic cancers; all of which are associated with inherited mutations in these 20 genes.
Why is this important?
Targeted treatments such as PARP inhibitors and platinum based chemotherapy have shown to be effective in treating patients with metastatic prostate cancer and an inherited mutation. Family members can benefit from knowing about an inherited mutation by reducing their risk through testing and screening for associated cancers. Genetic testing for inherited gene mutations in all metastatic prostate cancer patients is essential for effective treatment, as well as screening and early detection for family members.
To read the paper click on link Metastatic-Prostate-Cancer-Genetics-3
March 13th, 2017
Screening recommendations for women with BRCA1 and BRCA2 mutations involve annual Breast MRI’s beginning at age 25, paired with annual mammograms beginning at age 30. The average age of childbearing in the United States is 28. Breast cancer screening for high-risk women may be interrupted due to pregnancy and breastfeeding due to the potential risks of breast imaging for pregnant women. Women with a high-risk mutation may find it difficult to know how to stay on top of their screening while considering pregnancy. A recent article titled
"Breast cancer screening of pregnant and breastfeeding women with BRCA mutations" extrapolates information from the current literature to form recommendations regarding when screening is warranted during pregnancy and breastfeeding, and what screening methods are most appropriate during this time.
Before Pregnancy: Before pregnancy, it is important that breast cancer screening is as up-to-date as possible. If a woman is not using contraceptives, pregnancy status should be determined before breast imaging is completed. If a women is planning on becoming pregnant quickly following a previous pregnancy, she is recommended to receive both a Breast MRI and mammogram in between the two pregnancies.
Pregnancy: Throughout the course of a pregnancy, breast awareness and a Clinical Breast Exam (CBE) every 6 months are recommended. If a women has a positive result via a CBE, mammogram or Breast MRI is recommended. While breast imaging may have a risk to pregnant women, if these is concern for breast cancer during pregnancy mammograms or breast ultrasound should be considered.
Breastfeeding: Throughout the course of a breastfeeding, breast awareness and a Clinical Breast Exam (CBE) every 6 months are recommended. If a women has never had breast imaging or is outside the recommended screening interval, and is planning on breastfeeding for an extended period of time, Breast MRI is recommended.
This is a summary on the paper Breast cancer screening of pregnant and breastfeeding women with BRCA mutations Carmichael et al., 2017 .
January 30th, 2017
A recent article titled,"What I wish I'd known before surgery: BRCA carriers' perspectives after bilateral salipingo-oophorectomy," surveyed a group of women who were positive for a BRCA1 or BRCA 2 gene mutation and were undergoing risk reducing surgery to remove their ovaries, fallopian tubes and uterus. The survey asked women about their experience going through surgical menopause and things they wish they would have known before they had is preventative surgery. Below is a list of topics the participants wish they would have known before having the surgery:
1 59% said they would have like to know the impact of this surgery on their sex life,
2. 57% felt it would have helpful to know about the availability of sex counseling
3. 57% said they would have wanted to know more about the risk of coronary heart disease.
To read the article's full abstract please click here: http://link.springer.com/article/10.1007%2Fs10689-010-9384-z
Have you had a risk reducing bilateral salpingo-oophectomy and hysterectomy (TAH/BSO)? Is there something that you wish your doctor would have told you about before the surgery? Please share below to help us better educate providers and doctors about the topics and guidance needed from women undergoing a TAH/BSO.
December 9th, 2016
According to a study recently presented at the 2016 San Antonio Breast Symposium, BRCA1 and BRCA2 genetic status does not predict survival rates in young women with breast cancer. “There is no significant difference in survival between BRCA gene carriers and non-carriers amongst all young breast cancer patients,” reported Diana Eccles, MD, of the University of Southampton, United Kingdom. The study did find a difference in survival rates between women who have a triple negative breast tumor with and without a BRCA 1 or BRCA2 gene mutation. Women who have a triple negative breast tumor and a BRCA gene mutation had a better survival rate (11%) than those women who had a triple negative breast tumor and no BRCA gene mutation. The average age for the women in the study were 36 years old.
To learn more about the study please click on this link. http://bit.ly/2gmaMSc
December 9th, 2016
What the study is about: A large research study is currently recruiting females who carry a mutation in their PALB2 gene. Those with a mutation in their PALB2 gene have an increased risk for developing pancreas and breast cancer in their lifetime. The researcher's mission is to determine the best treatment for women with a PALB2 mutation and breast cancer. Through a better understanding, we can personalize breast cancer treatment to increase survival, and determine how to best manage at risk family members to detect cancer early or prevent it.
Who is eligible: Women with a PALB2 mutation who have been diagnosed with breast cancer.
Learn more: To learn more about the study and how to participate please click on the link below.
September 29th, 2016
After nearly 30 years at UCSF, nurse coordinator Debby Hamolsky is leaving us for her next adventure. Please join the UCSF Carol Franc Buck Breast Care Center in honoring her legacy with a day exploring food, science, and breast health.
In the spirit of Debby’s decades of commitment to emotional and educational support for women with breast cancer, our panel topics will focus on personalized screening and treatment and living well during and after cancer. Between panels, join us for science demonstrations, healthy food tastings, and updates on trials and programs available through the Breast Care Center. This educational event is free and open to all.”