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Dry Skin/Xerosis: Introduction

Dry skin, technically termed as xerosis cutis, is a common yet minor skin problem mostly prevalent in older adults. This is because moisture retention in the skin reduces as you age. Xerosis is a greek terminology, where Xero means dry, and Osis means medical condition.

Common causes of xerosis include:
- Showering with excessively hot water
- Cold and dry weather conditions
- Dehydration or poor water consumption
- Harsh soaps and detergents
- Prolonged sun exposure

Some medical conditions, like atopic dermatitis and malnutrition, are also significant contributors to dry skin.

How Does Genetics Contribute to Dry Skin?

FLG Gene and Dry Skin

The FLG encodes a protein, profilaggrin. It makes up most of the epidermal layers, which is the outermost layer of the skin. When the profilaggrin protein is cut, it forms the filaggrin protein, which is crucial for the structure of the epidermis. One profilaggrin molecule can make up to 10-12 copies of the filaggrin protein. Filaggrin also helps form other proteins that are involved in skin hydration.

Proper functioning of the FLG gene is necessary as the epidermis is the main skin barrier that helps minimize water loss from and entry of bacteria or other toxins into the body. It also helps maintain the acidic pH of the skin, which plays a main barrier role.

Certain variants in this gene result in the lower secretion of the protein or secretion of a dysfunctional protein. This interferes with the moisture lock-in, leading to dry skin.

rs61816761 and Dry Skin

rs61816761, more commonly known as R501X, is an SNP in the FLG gene. This mutation reduces the number of copies of the filaggrin protein. A allele of this SNP is associated with a higher risk of developing dry skin and ichthyosis.

There are also several other SNPs in the FLG gene associated with the risk of dry skin.

Non-genetic Factors That Influence The Risk of Dry Skin

Several medical conditions are known to cause dry skin. Some of them include:
- Diabetes: High blood glucose levels can contribute to dry, itchy skin.
- Atopic dermatitis: This condition causes dysfunction in the skin barrier. This results in more moisture loss, and therefore, dry skin.
- Hypothyroidism: Underactive thyroid gland results in decreased secretion of eccrine glands. They are the major sweat glands of the human body.
- Malnutrition: Certain nutrient deficiencies can result in dry and scaly skin.
- Lymphoma: Cytokines are compounds released in response to skin lymphoma. This can irritate the nerve endings and result in itchy and dry skin.

Other risk factors include:
- Season: Dry skin occurs more often during the cold seasons like winter and autumn.
- Age: People aged 40 years and older are more susceptible to dry skin.
- *Medications: Certain medications used to treat conditions like hypertension, acne, allergy, and cholesterol may lead to dry skin.

Effects Of Dry Skin

The hallmarks of dry skin are itchiness and loss of elasticity. Other effects of dry skin include:
- Pruritus: A sensation that urges you to scratch your skin
- The breaks in the skin due to scaliness can increase the risk of bacterial infections
- Inflammation of the dry skin can lead to red/pink patches

Recommendations to Avoid/Manage Dry Skin

Summary

  1. Dry skin, also called xerosis cutis, occurs when the skin loses its ability to absorb/retain moisture.
  2. It is commonly caused by dehydration, prolonged sun exposure, excessive showering with hot water, and cold and dry weather conditions.
  3. The ability to absorb and retain moisture is also influenced by the FLG gene. It codes for the filaggrin protein that helps minimize water loss from the skin.
  4. rs61816761 SNP is located on the FLG gene and is associated with a decreased number of filaggrin proteins. People with the A allele have an increased risk of developing dry skin and ichthyosis.
  5. Several medical conditions, like diabetes, hypothyroidism, malnutrition, and lymphoma, also cause dry skin. Certain medications used to treat conditions like acne can also dry up your skin.
  6. Using skin moisturizer and hydrating adequately are two effective ways to both prevent and manage dry skin.

References:

  1. https://medlineplus.gov/genetics/gene/flg/
  2. https://pubmed.ncbi.nlm.nih.gov/17417636/
  3. https://www.aad.org/public/diseases/a-z/diabetes-warning-signs
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219173/

Reaction Time: An Introduction

A reaction is the inherent ability of an organism to perceive a stimulus and respond to it. Reaction time, also called response time, is the amount of time from perceiving something till we respond to it. This trait is controlled by the body’s central nervous system that is made up of billions of neurons. These neurons receive the sensory input from the stimuli and relay this information to the brain. The brain then instructs the body to react. So, the process of a reaction basically involves three steps– detection, processing, and responding to something.

The reaction time of an individual depends upon:
- How they perceive the stimulus using their senses
- How they process the stimulus - one needs to be focused and understand the information sent by their senses
- Motor agility: This helps them respond quickly and appropriately.

An alteration or delay in any of the above steps can result in a longer reaction time. People with short reaction times tend to have good reflexes. Since reaction times arise from good cognitive abilities, individuals with neurodegenerative disorders, problems with sensory perception, and motor problems tend to have longer reaction times. Common conditions associated with long reaction times are ADHD, Parkinson’s Disease, Alzheimer’s, MS, and Huntington’s Chorea.

Importance of Reaction Time

All personality traits and cognitive functions help us in one way or the other. Having a short reaction time is very important and, in fact, is essential to keep you safe in your everyday life. From perceiving a stimulus in time to reacting to it helps people get by their daily routine - from cooking to driving and pretty much everything you do is based on reaction time.

It is common to confuse reaction time with reflexes - reflexes are involuntary actions whereas, reaction time is associated with voluntary movements that one makes consciously.

Non-genetic Factors that Influence Reaction Time

Genetics influences reaction time in an individual. But, there are some non-genetic factors that can accentuate or aggravate reaction times. These are:
- Age: Though older people take the same time as younger people to assimilate information or perceive a stimulus, they take longer to react to them, thereby increasing reaction times as one age.
- Gender: Men have faster reaction times compared to women. However, a study by Jevas and Yan (2001) stated that age-related deterioration of reaction times was the same in both genders.
- Fatigue: It was found in multiple studies over the years that individuals who are deprived of sleep had longer reaction times.
- Distraction: People who failed to concentrate or were easily distracted in simple tasks like driving a car had longer reaction times. Another classic case of distraction is when one attempts to multitask. When you multitask, the two or more tasks compete for the brain’s cognitive resources resulting in slower reaction times.
- Alcohol Influence: This chemical substance slows down the body and, therefore, affects the reaction times in the inebriated.
- Hydration levels: A few hours without water can affect one’s reaction time.
- Type of stimulus: Reaction to auditory stimuli was found to be shorter than that for visual stimuli.
- Time of the day: It has been suggested by many studies that the time of the day affects reaction time. People have shorter reaction times during the early morning as compared to tonight because of increased fatigue in the latter part of the day.

Recommendations for Improving Reaction Time

Everyone may not have lightning-fast reflexes, but that shouldn’t be a dampener if you wish to improve your reaction time. Here are some ways by which you can shorten your reaction time:

Playing A Sport

Performing an action repeatedly improves the reaction time of an individual in that activity. This is why athletes and sportspersons do the same drills repeatedly when practicing. A good way to improve your reaction time is by playing a sport of your choice. Physical activity stimulates the nervous system to respond to a stimulus after processing information quickly, thereby shortening reaction time.

Relaxing

Learning to be calm by adopting relaxation techniques can help you reduce your reaction times. Studies have shown that staying calm strengthens the mind and enables better reaction time.

Fueling Your Body The Right Way

Foods that are rich in antioxidants, vitamin K, and tyrosine are said to boost brain function, including alertness and cognitive abilities. These, in turn, can help shorten reaction times.

Trying Your Hand At Video Games

People who play video games have incredibly short reaction times because that is what the games demand. This is, in fact, a good way to improve your reaction time as people tend to develop a heightened sense of their surroundings.

Playing Ball

A simple throw and catch game with a tennis ball is very useful in improving reaction times in people.

Getting a Good Night’s Sleep Regularly

Overworking and not getting adequate sleep at night can fatigue not just your body but also your brain. Fatigue is known to prolong reaction time, and therefore, in order to improve your reaction times, you must get your recommended 8 hours of sleep each night.

Summary

  1. Reaction time, also called response time, is the amount of time from perceiving something till we respond to it. The shorter the reaction time, the better.
  2. The three key elements of reaction time are perceiving, processing, and responding to the stimuli.
  3. Good reaction time requires good cognition- so people with mental disorders like ADHD, Parkinson’s Disease, and Alzheimer’s may have longer reaction times.
  4. Reaction time is influenced in part by genetics. The ATXN2 gene, responsible for the production of ataxin-2, a protein found throughout the body, has been studied for its effects on reaction time.
  5. Genetic studies reveal that people with certain changes in the ATXN2 gene, and two other genes, tend to have a slower reaction time than those without the changes.
  6. Other factors like age, sex, alcohol consumption, hydration levels, presence of a distraction, and time of the day can also influence reaction time.
  7. Even if you do not have a fast response time naturally, a few techniques like playing a sport, getting the correct nutrition, and adequate sleep can help improve your reaction time.

References

https://www.cognifit.com/science/cognitive-skills/response-time
https://www.hptinstitute.com/wp-content/uploads/2014/01/Factors-Affecting-Reaction-Time1.pdf
https://www.healthline.com/health/how-to-improve-reaction-time#for-gaming
https://www.reflexion.co/blog/improve-reaction-time/
https://www.theguardian.com/lifeandstyle/2018/oct/01/seven-ways-to-improve-your-reflexes
https://www.eurekalert.org/pub_releases/2014-09/uos-bsr092314.php

Early-Onset Breast Cancer

Breast cancer usually occurs in women around the age of 50. However, in some women, breast cancer develops around 18-45 years of age, a condition called early-onset breast cancer. According to the Center for Disease Control, 1 in 10 women who are diagnosed with breast cancer is under the age of 45.

Another report from JAMA 2015 notes that 15% of deaths due to breast cancer occur in women whose disease was detected before 45 years of age. Early-onset breast cancers are generally hereditary but are often diagnosed late. Some of these cancers are also very aggressive and difficult to treat.

Genetic Risk Factors for Early Onset Breast Cancer

Since early-onset breast cancer has a strong hereditary influence, genetics plays an important role in its development. Most women diagnosed with early-onset breast cancer have a family member who has or has had breast or ovarian cancer. Having a male member with a history of breast cancer also increases their risk.

Some genes that have shown to increase risk are:

The BRIP1 Gene

The BRCA1 Interacting Protein C-terminal Helicase 1 or BRIP1 gene contains instructions for producing tumor suppressor proteins. Changes in this gene are associated with breast cancer and Fanconi’s Anemia, a type of early childhood cancer syndrome. The BRIP1 gene, along with the BRCA1 gene, helps repair damaged DNA. The damaged parts of the DNA are removed and the remaining structure is restored to health.

The FGFR2 Gene

The Fibroblast Growth Factor 2 or FGFR2 is a gene that produces proteins to regulate fibroblast growth factors. These growth factors participate in cell growth and multiplication. Mutations or changes in the FGFR2 gene have been associated with multiple types of cancers, including breast, lung, and ovarian cancer.

Non-Genetic Factors Influencing Early Onset Breast Cancer Risk

Recommendations to Lower Risk of Early-Onset Breast Cancer

Summary

  1. Though breast cancer is commonly seen in women over 50 years of age, it can occur in women much earlier, between 18-45 years. This is known as early-onset breast cancer.
  2. Early-onset breast cancer occurs in women with a strong family history of breast or ovarian cancer in their family.
  3. Multiple genes have been identified to increase a woman’s risk for early-onset breast cancer. Some of these include BRIP1, MAP3K1, and CASC21.
  4. Some non-genetic factors like race, descent, previous exposure to radiation to the chest, and non-cancerous breast growths can also increase women’s risk for early-onset breast cancer.
  5. If a woman has a family member with a history of breast or ovarian cancer, it is important to opt for genetic testing, genetic counseling, and regular breast screenings.

References

https://www.cdc.gov/cancer/videos/breast/bringyourbrave/earlyonsetbreastcancer/introduction-riskfactors/introduction-riskfactors-ADTranscript-508.pdf
https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/family_history_breast_cancer.html
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BRIP1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3109611/
https://pubmed.ncbi.nlm.nih.gov/24780616/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666331/
https://www.nature.com/articles/srep12773
https://pubmed.ncbi.nlm.nih.gov/30515698/
https://www.nature.com/articles/srep12773
https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection/american-cancer-society-recommendations-for-the-early-detection-of-breast-cancer.html

Breast cancer develops as a result of abnormal growth and development of cells in the breast tissue. The breast is made up of three important parts:
- Lobules: Milk-producing glands
- Ducts: Tube-like parts that carry milk from lobules to the nipples
- Connective tissues: Tissues that surround the breast

Abnormal cell growth can occur in any of the three parts but is more commonly seen in the lobules and ducts.

Sometimes the cancer cells can spread to other parts of the body via the lymph system or blood, resulting in metastasized cancer.

Around the world, breast cancer affects 12% of women. It is also the leading cause of cancer deaths in women - 14% of all cancer-related deaths in women are because of breast cancer.

Symptoms of Breast Cancer

Both genetic and non-genetic factors can increase a person’s risk of developing breast cancer.

Genetic Factors Increasing Breast Cancer Risk

About 5-10% of breast cancer cases are thought to be hereditary. Women with first-degree relatives affected with breast cancer fall under the high-risk category for developing the condition.

Changes or mutations in two genes - BRCA1 and BRCA2 are majorly associated with breast cancer risk. Both these genes help make tumor suppressor proteins and are beneficial to the body. Tumor suppressor proteins prevent the abnormal growth and division of cells.

Changes in these genes result in less or abnormal production of tumor suppressor proteins and thereby increase the risk of developing all kinds of cancers, including breast cancers.

Having a mutation in these genes does not mean that the individual will be diagnosed with breast cancer. These mutations just indicate high risk and warrant further investigation and close monitoring.

The BRCA1 Gene

The BRCA1 gene contains instructions for the production of tumor suppressor proteins. Other than preventing abnormal cell growth, the tumor suppressor proteins also:
Interact with other proteins to repair damaged DNA
Regulate the activity of other genes
Prevent damaged DNA from getting passed on to other healthy cells
There are 25 SNPs or Single Nucleotide Polymorphisms in the BRCA1 gene, that play a role in increasing the risk of breast cancer.

The BRCA2 Gene

The BRCA2 gene also plays a role in the production of tumor suppressor proteins and has 25 SNPs associated with increased breast cancer risk.

Non-genetic Factors Influencing Breast Cancer Risk

Age

Men and women who are more than 50 years of age are at higher risk for developing breast cancer than younger individuals. Women aged 70-74 fall under the highest risk category.

Gender

Breast cancer is most often found in women. Only 1 % of all breast cancers in the United States are diagnosed in men.

Ethnicity

In the United States, white and black women have a higher risk for developing breast cancer than American Indians, Asians, Pacific Islanders, and Hispanics.

Dense Breasts

Tumorous cell growth is difficult to detect in women with dense breasts because of increased connective tissues. Such women are at higher risk of developing more complications because of late diagnosis.

Reproductive History

Girls who get their menstrual periods before 12 years of age are at higher risk for developing breast cancer as they grow older. Similarly, women who experience late menopause (after 55 years of age) are at higher risk for breast cancer.

Age During the First Full-term Birth

According to a worldwide study, women who give birth to their first full-term child early seem to be more protected against breast cancer. Women who had their first child after 35 had a 22% increased risk for developing breast cancer.

Personal History of Breast Cancer

Women who have had breast cancer in the past are at higher risk for developing it again.

Breastfeeding Duration

A population-based study analyzed the effects of breastfeeding on breast cancer risk in 553 women. According to the study, women who breastfed their babies for more than 13 months had a significantly lesser risk for developing breast cancer.

Radiation Therapy Exposure

Women who had radiation exposure in the breasts before the age of 30 have a higher risk for developing breast cancer.

Obesity

Post menopausal women who are obese are at higher risk of developing breast cancer than women with normal BMI levels. Obese women with breast cancer have worse disease progression and lower overall survival rates.

Recommendations To Reduce Breast Cancer Risk

Maintain A Healthy Weight and Stay Physically Active

Since obesity is a risk factor for breast cancer, maintaining healthy BMI levels and staying physically active can help bring down the risk.

Quit Smoking

Women who have started smoking during adolescence are at very high risk for developing breast cancer. A study done in the United Kingdom analyzed 102,927 women who smoked. A follow-up study done after of 7.7 years, revealed that 1815 of these women had developed breast cancer.

Limit Alcohol Intake

Studies show that women who consume even moderate amounts of alcohol regularly are at 30-50% higher risk for developing breast cancer.
For women who are already in the high-risk category, alcohol consumption adds to the risk.

A study recruited 89,538 women aged 34-59 years with no prior history of cancer. The study recorded and monitored their alcohol consumption history. In the next four years, 601 cases of breast cancer were diagnosed in the study group.

The risk of breast cancer was relatively higher in women who consumed more than three drinks a week.

Consult a Genetic Counselor

Genetic testing for mutations in the BRCA1 and BRCA2 genes will tell you if your breast cancer risk is higher than normal. If you are at a higher risk, talk to a counselor to understand how you can handle the risk. You may be asked to go through breast cancer screening more frequently to help with early diagnosis.

Summary

  1. The growth and development of abnormal cells in the breast tissues is called breast cancer. Breast cancer can develop in the lobules, ducts, or connective tissues in the breasts.
  2. About 5-10% of breast cancer cases are hereditary.
  3. Changes in the BRCA1 and BRCA2 genes increase a person’s risk for developing breast cancer.
  4. Not everyone with BRCA1_ and BRCA2 gene variations may develop breast cancer.
  5. Breast cancer is more common in women than men - only 1 in 100 men are affected by breast cancer.
  6. Women who are above> 50 years of age and those with first-degree relatives with breast cancer fall under the high-risk category.
  7. Other factors like ethnicity, reproductive history, period of breastfeeding, and obesity influence the risk of breast cancer.
  8. Maintaining healthy BMI levels, limiting alcohol, quitting smoking, and getting yourself screened for BRCA1 and BRCA2 gene variations can help reduce the risk of breast cancer.

References:

https://www.cdc.gov/cancer/breast/index.htm
https://www.cdc.gov/cancer/breast/basic_info/risk_factors.htm
https://www.cancer.org/cancer/breast-cancer/about/what-is-breast-cancer.html
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491690/ https://www.cdc.gov/cancer/breast/men/index.htm
https://www.cancercenter.com/community/blog/2019/07/whats-the-difference-female-male-breast-cancer
https://pubmed.ncbi.nlm.nih.gov/5312521/
https://medlineplus.gov/genetics/gene/brca2/#conditions

Breast Cancer and Genetic Testing

Breast cancer is the most common invasive cancer in women in the developed and developing world. About 5 to 10% of breast cancer cases are inherited.

Inherited breast cancer results from changes or mutations in certain genes that are passed on from a parent. Breast cancer prognosis is better when the cancer is detected in the early stages.

The BRCA Genes

BRCA stands for BReast CAncer gene. More than 1000 different mutations or changes in these genes have been identified to increase breast cancer risk. The role of BRCA genes in breast cancer was first identified in the 1990s. Clinical testing for BRCA mutations gained popularity when Angelina Jolie, who was tested positive for BRCA mutations, underwent preventive surgery to decrease her risk of developing breast and ovarian cancer.

FDA Approved BRCA Markers

In 2018, the Food and Drug Administration (FDA)approved the reporting of three specific mutations in the BRCA1/BRCA2 genes for breast cancer screening. The FDA-approved markers can be used to identify the risk for breast and ovarian cancer in women, and breast and prostate cancer in men.

In the US, these mutations are found in 2% of people of Ashkenazi (Eastern European) Jewish descent and less than 0.1% of the population overall.

Testing positive for any one of these markers indicates an increased risk of developing breast and ovarian cancers in women and breast and prostate cancers in men. On the other hand, an absence of the three tested mutations does not rule out the chances of developing any of the conditions mentioned above. These three mutations are not very common in the general population.

The BRCA Genes and Breast Cancer Risk

Changes in the BRCA genes have been linked to an increased risk of breast cancer. Genetic changes can accumulate over time as cells divide. Some of these changes lead to uncontrolled cell division, increasing a person’s risk of developing cancer.

Not all cancers are inherited, but a parent carrying a change in the BRCA genes can pass it on to their children and increase their lifetime risk of developing cancer.

The BRCA1 gene or BReast CAncer 1 gene carries instructions for producing a tumor suppressor protein that helps prevent uncontrolled cell growth and division. This protein also plays a role in repairing damaged DNA, which is crucial for maintaining genome stability.

The BRCA2 gene or BReast CAncer 2 gene is also a tumor suppressor gene.

Reducing Your Risk For Breast Cancer

Summary

  1. Breast cancer develops in the breast tissue. Advanced age, dense breast tissues, genetics, and extended exposure to estrogen are a few risk factors for breast cancer.
  2. About 5 to 10% of breast cancer cases are due to changes in certain genes like BRCA1 and BRCA2.
    Learn About Your Genetic Risk For Breast Cancer
  3. Over 1000 mutations in the BRCA genes influence breast, ovarian, and prostate cancer risk.
  4. The FDA approved three markers in the BRCA genes that can identify the risk for breast cancer in both men and women.
  5. A genetic test can help people with a family history of breast, ovarian, or prostate cancer identify their risk for these conditions.
  6. A healthcare provider or genetic counselor can help you understand the pros and cons of the test, interpret the results, and suggest a further course of action.

References

https://www.cancer.org/latest-news/fda-approves-consumer-test-for-certain-brca-mutations.html
https://www.fda.gov/news-events/press-announcements/fda-authorizes-special-controls-direct-consumer-test-reports-three-mutations-brca-breast-cancer
https://www.23andme.com/brca/
https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
https://medlineplus.gov/genetics/gene/brca1/
https://medlineplus.gov/genetics/gene/brca2/

The BRCA Genes

The name “BRCA” is an abbreviation for the “BReast CAncer gene.” BRCA1 and BRCA2 are two different genes found to impact a person’s chances of developing breast cancer.

Despite what their names might suggest, BRCA genes do not cause breast cancer. These genes normally play a big role in preventing breast cancer.

The BRCA genes carry instructions for the production of proteins that are responsible for preventing uncontrolled cell growth. These proteins are called tumor suppressor proteins. If these proteins do not function properly, it results in uncontrollable growth of cells, which may end up being cancerous.

The BRCA proteins also help repair damaged DNA, thereby maintaining the stability of genetic information. DNA damage can occur due to errors during the DNA replication process or by environmental agents like UV or ionizing radiation.

BRCA Gene Mutations

Certain changes or mutations in the BRCA genes prevent the proteins from doing their job properly and may lead to uncontrolled cell division, increasing a person’s risk of developing cancer. These genetic changes are called harmful or pathogenic variants.

Not all cancers are inherited, but a person carrying a change in the BRCA1 or BRCA2 gene can pass it on to their children and increase their lifetime risk of developing cancer. If either your mother or father has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation.

About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene.

BRCA Mutations and Breast Cancer Risk

Inherited mutations in the BRCA1 gene are responsible for about 40-45% of hereditary breast cancers.

BRCA2 germline mutations, which are mutations inherited from either parent, are seen in approximately 35% of families with incidences of early-onset breast cancer in their women.

According to the National Cancer Institute, NIH, 55-72% of women who inherit a harmful BRCA1 mutation and 45-69% of women who inherit a harmful BRCA2 mutation will develop breast cancer by 70-80 years of age.

39%-49% of women who inherit a harmful BRCA1 mutation and 11-17% of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by 70-80 years of age.

Harmful variants in the BRCA1 gene are also linked to a risk of fallopian tube (tubes that connect the ovaries to the uterus) cancer, primary peritoneal cancer that occurs in the lining of the abdomen, pancreatic cancer, and prostate cancer. However, the risk of developing these types of cancer is lower than that of breast cancer.

Mutations in the BRCA genes increase the risk of breast cancer in males too. Men with a BRCA2 gene mutation have a 7 in 100 chance of developing breast cancer, while men with a BRCA1 gene mutation have a 1 in 100 chance of developing breast cancer.

BRCA Mutations and Ethnicity

The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across different ethnicities. In the general population, BRCA mutation(s) can be seen in about 1 in 400 people. This number increases to 2 in 100 in people of Ashkenazi Jewish descent. The mutations found in this population are usually one of three FDA-approved variants.

Different population groups also carry different variants - for example, African Americans carry a particular variant in the BRCA1 gene that is not found in the other ethnic groups in the U.S.

Reducing Your Risk For Breast Cancer

Summary

  1. The BRCA genes produce tumor suppressor proteins that control and suppress the growth and division of tumor cells and repair DNA damage.
  2. Certain harmful changes in these genes can increase the risk of developing cancer.
  3. The breast cells turn cancerous when both the copies of the BRCA1 or BRCA2 gene are mutated.
  4. Inherited mutations in the BRCA genes are linked to an increased risk of breast, ovarian, prostate, fallopian tube, and primary peritoneal cancer.
  5. Genetic tests are mainly helpful for people with a family history of these cancers or a BRCA mutation.
  6. Some ways to reduce your breast cancer risk are scheduling regular screenings, maintaining a healthy weight, and avoiding alcohol consumption.

References

https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524247/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720154/
https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/genes_hboc.htm
https://www.cancer.net/cancer-types/breast-cancer-men/risk-factors
https://pubmed.ncbi.nlm.nih.gov/32259785/

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