D-dimer Unreliable for Ruling Out PE in COVID-19

Health

Medscape 13 October, 2021 - 04:36pm

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Dr. Nicole Saphier discusses coronavirus pandemic’s influence on cancer care, calls COVID-19 vaccine rollout ‘glimmer of hope’ for health care workers.

BRCA gene mutations are well known indicators of a person’s risk for breast cancer, however the PALB2 mutation is the third most prevalent breast cancer gene experts say people should be aware of in determining risk for developing the disease. Researchers have linked the PALB2 gene mutation to diseases like breast, ovarian and pancreatic cancers, medical experts told Fox News.

Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) gene mutations are the top two mutations highly associated with inherited cancers such as breast and ovarian cancer, as well as pancreatic, prostate and melanoma cancers.

Dr. Elisa Port, chief of breast surgery at Mount Sinai Health System, told Fox News that the BRCA and PALB2 gene mutations do share similar risks, yet differ.

"PALB2 shares those risks as well but not as high a level," Port said.

According to Port, who also serves as the director of the Dubin Breast Center at Tisch Cancer Institute at Mount Sinai, the risk of ovarian cancer with BRCA can be up to 20% or 40% depending on the BRCA gene. With PALB2, she estimated it's likely 1-2%.

According to the National Breast Cancer Foundation, family history plays a significant role in breast cancer risk, and researchers are helping to identify genes responsible for the increased risk of inheriting diseases. 

A normal healthy gene decreases one's risk of developing breast cancer, NBCF explains on its webpage. However, the risk increases if the gene is abnormal, hampering its ability to perform its role to prevent cancer in the body. 

"An estimated 35% of women with a mutated PALB2 gene will develop breast cancer by age 70," the webpage reads.

Nevertheless, Port advised three courses of action for patients diagnosed with a PALB2 gene mutation:

According to Port, since the pancreas, considered an "at risk" tissue, cannot be removed, vigilant monitoring of that organ is recommended to detect any signs of cancer.

Port added that Mount Sinai Hospital in New York City recently launched a center providing navigational support for patients diagnosed with BRCA, PALB2 or other genetic mutations. After patients complete an online risk assessment, they have the option to meet in-person with specialists at Mount Sinai’s Comprehensive BRCA Program. The team of specialists at the center determine the patient’s risk of developing certain cancers. The specialists customize a specific protocol of screenings that the patient and their primary care physician can then follow.

"Basically we put together an entire program based on their risk, based on whether they are male or female, what are they at risk for, and go through the whole process so they understand what the follow up should be," Port said, adding that the follow up is then shared with the patient’s primary care physician and gynecologist. "We can give them a whole write up and program that they can follow closer to home."

Testing for genetic mutations is important when discussing one’s risk and prevention of certain diseases like cancer, Port said, noting: "It’s not just BRCA and PALB2. There’s others."

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Read full article at Medscape

Wellness Wednesday: How genetic testing saved a Verona woman’s life

WSYR 14 October, 2021 - 02:00pm

This material may not be published, broadcast, rewritten, or redistributed. ©2021 FOX News Network, LLC. All rights reserved. Quotes displayed in real-time or delayed by at least 15 minutes. Market data provided by Factset. Powered and implemented by FactSet Digital Solutions. Legal Statement. Mutual Fund and ETF data provided by Refinitiv Lipper.

Dr. Nicole Saphier discusses coronavirus pandemic’s influence on cancer care, calls COVID-19 vaccine rollout ‘glimmer of hope’ for health care workers.

BRCA gene mutations are well known indicators of a person’s risk for breast cancer, however the PALB2 mutation is the third most prevalent breast cancer gene experts say people should be aware of in determining risk for developing the disease. Researchers have linked the PALB2 gene mutation to diseases like breast, ovarian and pancreatic cancers, medical experts told Fox News.

Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) gene mutations are the top two mutations highly associated with inherited cancers such as breast and ovarian cancer, as well as pancreatic, prostate and melanoma cancers.

Dr. Elisa Port, chief of breast surgery at Mount Sinai Health System, told Fox News that the BRCA and PALB2 gene mutations do share similar risks, yet differ.

"PALB2 shares those risks as well but not as high a level," Port said.

According to Port, who also serves as the director of the Dubin Breast Center at Tisch Cancer Institute at Mount Sinai, the risk of ovarian cancer with BRCA can be up to 20% or 40% depending on the BRCA gene. With PALB2, she estimated it's likely 1-2%.

According to the National Breast Cancer Foundation, family history plays a significant role in breast cancer risk, and researchers are helping to identify genes responsible for the increased risk of inheriting diseases. 

A normal healthy gene decreases one's risk of developing breast cancer, NBCF explains on its webpage. However, the risk increases if the gene is abnormal, hampering its ability to perform its role to prevent cancer in the body. 

"An estimated 35% of women with a mutated PALB2 gene will develop breast cancer by age 70," the webpage reads.

Nevertheless, Port advised three courses of action for patients diagnosed with a PALB2 gene mutation:

According to Port, since the pancreas, considered an "at risk" tissue, cannot be removed, vigilant monitoring of that organ is recommended to detect any signs of cancer.

Port added that Mount Sinai Hospital in New York City recently launched a center providing navigational support for patients diagnosed with BRCA, PALB2 or other genetic mutations. After patients complete an online risk assessment, they have the option to meet in-person with specialists at Mount Sinai’s Comprehensive BRCA Program. The team of specialists at the center determine the patient’s risk of developing certain cancers. The specialists customize a specific protocol of screenings that the patient and their primary care physician can then follow.

"Basically we put together an entire program based on their risk, based on whether they are male or female, what are they at risk for, and go through the whole process so they understand what the follow up should be," Port said, adding that the follow up is then shared with the patient’s primary care physician and gynecologist. "We can give them a whole write up and program that they can follow closer to home."

Testing for genetic mutations is important when discussing one’s risk and prevention of certain diseases like cancer, Port said, noting: "It’s not just BRCA and PALB2. There’s others."

Stay up-to-date on the biggest health and wellness news with our weekly recap.

You've successfully subscribed to this newsletter!

This material may not be published, broadcast, rewritten, or redistributed. ©2021 FOX News Network, LLC. All rights reserved. Quotes displayed in real-time or delayed by at least 15 minutes. Market data provided by Factset. Powered and implemented by FactSet Digital Solutions. Legal Statement. Mutual Fund and ETF data provided by Refinitiv Lipper.

Breast cancer and genetics: Can it skip a generation?

Medical News Today 14 October, 2021 - 02:00pm

This article will go into detail about the role of genetics in breast cancer, whether breast cancer can skip a generation, and the next steps for a person who has a breast cancer gene.

A gene is a sequence of DNA that determines certain traits, such as eye or hair color. Genes are transmitted in pairs from biological parents to their child. A child inherits one copy from each parent. Sometimes, a child can inherit a gene with mutations, which means that the gene does not function correctly.

Other forms of breast cancer can occur due to gradual changes in a person’s DNA.

These forms of breast cancer, known as somatic mutations, are not due to inherited factors. Somatic mutations occur for a variety of reasons, such as aging or exposure to certain chemicals.

Inherited breast cancer genes cannot skip a generation.

However, while genes cannot skip a generation, the cancer can. Having a mutated gene is not a guarantee that a person will have breast cancer.

A mutated gene is still inheritable, even if the person does not develop breast cancer. This means that a person’s child may inherit the mutated gene from them and could develop breast cancer.

The BRCA genes are responsible for repairing damage to cells in a person’s body. These genes also help certain cells, such as breast or ovarian cells, to grow as expected.

When mutations occur in these genes, it can lead to atypical cell growth. Atypical cell growth can lead to the development of cancer.

A female’s chances of developing breast cancer double if they have a first degree relative with the condition. A first degree relative is an immediate family member, such as a sister, mother, or daughter.

The risk of a person developing breast cancer increases with each additional family member who has it. Additionally, having a male relative who has breast cancer also increases a female’s chances of having it.

More research is necessary to determine the effects of family history on a male’s chances of developing breast cancer.

If a person is concerned that they may have inherited a breast cancer gene, they should speak with a doctor. A doctor may suggest for a person to undergo genetic counseling.

Genetic counseling involves a person speaking with a genetic counselor about their chances of developing breast cancer. Genetic counselors can also provide a person with resources and support.

This type of counseling can also help a person decide if they would like to take part in genetic testing or not. Genetic testing involves checking a person’s genetic profile for breast cancer-causing genes.

Genetic testing for cancer usually involves a person submitting a blood sample. However, other forms of genetic testing can use cell samples from a person’s:

If a person knows they have a BRCA gene, there are various medical options available to them.

A person can speak with a doctor about how often they should get screened for breast cancer.

There are certain medications that can help reduce a person’s chances of developing hormone receptor-positive breast cancer.

Hormone receptor-positive breast cancers contain hormone receptors that are activated by certain hormones. When these hormones bind to the hormone receptors, they can stimulate growth in the cancer.

A person may choose to have risk-reduction surgery if they have a high risk of developing breast cancer.

Bilateral prophylactic mastectomies involve removing both breasts, including a person’s nipples, which is known as a total mastectomy. The other option is a subcutaneous mastectomy, which involves removing as much breast tissue as possible while leaving a person’s nipples intact.

A total mastectomy reduces a person’s risk of developing breast cancer better than a subcutaneous mastectomy.

A salpingo-oophorectomy involves the removal of a person’s ovaries and fallopian tubes. Removing the ovaries reduces the amount of estrogen in someone’s body, which can slow the growth of some breast cancers. Estrogen can promote the growth of some types of breast cancer.

For people with a mutation in the BRCA1 and BRCA2 genes, a bilateral prophylactic mastectomy can reduce the risk of breast cancer by at least 95%.

It can also reduce the risk of breast cancer in people with a strong family history of this condition by up to 90%.

A salpingo-oophorectomy can reduce the chances of breast cancer in people with a high risk by 50%.

For people with mutated BRCA genes, premenopausal removal of their ovaries and fallopian tubes can reduce breast cancer risk by 50% and ovarian cancer risk by 85–95%.

Ovary removal may also increase a person’s chances of survival if they do develop breast cancer due to mutated BRCA genes.

Inherited genetic factors may cause a person to develop breast cancer. However, a person who inherits a breast cancer gene may not always develop cancer.

This means that a breast cancer gene can appear to skip a generation, even though it does not.

If a person has a family history of breast cancer, they are at a higher risk of developing it. A person can speak with a doctor about their risk of breast cancer to see if they may qualify for or benefit from genetic counseling.

A person can then decide if they would like to have genetic testing.

If a person has a mutated BRCA gene, there are various medical options available to them. A person should speak with a doctor about which option is right for them.

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