Showing posts with label BRCA mutation. Show all posts
Showing posts with label BRCA mutation. Show all posts

Thursday, October 25, 2018

The Pink Ribbon should have a Blue Streak: Male Breast Cancer


October is breast cancer awareness month, which is an annual campaign to increase the awareness about the deadly disease. I am sharing a series of articles on breast cancer this month. There is a common belief that breast cancer only occurs in women, but contrary to the popular belief breast cancer does occur in men. 

Male Breast Cancer is a very informative article authored by Dr. Avinash Deo, M.D., from his Health and Wellness website All About CancerDr. Deo is a Medical Oncologist and Haematologist, Medical Blogger and Medical Writer based at Mumbai, Mumbai, Maharashtra, India.

Male Breast Cancer
The pink ribbon is for breast cancer because pink is for women. Some of the breast cancers are not pink. They are blue. About 0.5-1% of the breast cancer patients are men. In Africa as many as 6% of the breast cancer patients are men. This is about a ribbon pink to the world, blue from inside.

What Causes Breast Cancer in Men?
The risk of breast cancer increase with age. Men develop breast cancer at an older age than women. On an average, a patient with a male breast cancer is 5 years older than a female patient with breast cancer. Male breast cancer is more common in blacks.

Male relatives of female breast cancer have a higher risk of breast cancer. The risk is doubled if a first degree (immediate) relative has suffered from breast cancer. One of the reasons for this is BRCA gene mutations. BRCA genes are involved in repair of DNA. There are two BRCA genes. The lifetime risk of breast cancer in men with BRCA2 gene mutations is about 5-15% and for BRCA1 gene mutations is up to 4%. This is opposite that seen in women. Women with BRCA1 mutations have a higher risk of breast cancer than those with BRCA2 mutations.

Conditions associated with an increase in the female hormone, estrogen, increased the risk of breast cancer. The conditions include

Klinefelter’s syndrome: Klinefelter’s syndrome, a disease where the patient has one extra X chromosome, increases the risk of breast cancer 50 times.
Liver Disease: Patients with a chronic liver disease have increased levels of estrogens and an increased risk of breast cancer.
Other Diseases: Obesity and testicular dysfunction may increase the risk of male breast cancer.
Exposure to radiation increases the risk of male breast cancer.

What Are The Symptoms of Male Breast Cancer?
The symptoms of male breast cancer include:

Lump in the breast
Ullcer or deformity of the nipple
Lump in the armpit
Rarely there may be swelling of the arm


Diagnosis of Breast Cancer In Men?
The diagnosis of breast cancer is made by a biopsy of the lump. Almost all males with breast cancer have cancers that have oestrogen receptors. This means that these cancers depend on the female hormone oestrogen for growth. This is a paradox as more breast cancers in men than in women depend on female hormones. Only 80% of the breast cancers occurring in women depend on female hormones for growth. Breast cancer in women can be diagnosed early by mammography. Mammography is not useful in men.

How is Male Breast Cancer Treated?
Male breast cancer is treated like female breast cancer with surgery followed by chemotherapy and/or radiation. There are however a few differences.

Male breast cancer patients have a more advanced cancer. Many need radiation and chemotherapy.

Almost all breast cancers in men depend on oestrogens for growth. They need to be treated with hormonal drugs that deprive the cancer of oestrogens. Tamoxifen is such a drug. Another category of drugs that deprive a cancer of oestrogen is aromatase inhibitors. It is not certain is they are as active in men as in women. Tamoxifen can cause nausea, headaches, fatigue, hot flashes, skin rash, sexual dysfunction, mood changes an and weight gain.
Men with breast cancer may carry a BRCA mutation, that is also likely to affect other members of the family. Women with BRCA mutations are at a very high risk of breast and ovarian cancer. Men with breast cancer should be tested for BRCA mutations. If a mutation is detected blood relatives should also be tested.

Is Male Breast Cancer More Dangerous?
Male breast cancer is perceived to be more dangerous than female breast cancer. In reality, males and females have comparable cure rates if they are diagnosed at the same stage. Lack of awareness about male breast cancer results in a delay in both men consulting a physician and the physician ordering the appropriate investigations. The delay results in a diagnosis at a more advanced stage and makes the disease more difficult to control.

Men with breast cancer are older than women with breast cancer. Age-related diseases like cardiac diseases that are more common in men come in the way of giving the complete treatment. This reduces the cure rate.



The Pink Ribbon Should Have A Blue Streak!

Should the pink ribbon have a blue streak? Probably yes. To remind us that about one percent of patients with breast cancer are men. To remind men not to ignore a lump under the nipple. Men who are diagnosed late because of lack of awareness about the male breast cancer. Men who have to deal with the psychological consequences of suffering a “woman’s disease”.

Monday, May 7, 2018

North American Menopause Society (NAMS) video series about important midlife health topics: Hormones and Breast Health

The North American Menopause Society (NAMS) is proud of its comprehensive video series for women on important midlife health topics. All the interviews in the series are hosted by NAM Board of Trustees Member and Immediate Past-President Dr. Marla Shapiro, a Canadian physician who led this exciting initiative. Dr. Shapiro is also the medical consultant for CTV News.

In this video of 2018 series, Dr. Shapiro discusses the very controversial topic of hormones replacement therapy (HRT) and breast cancer with Dr. Stephanie Faubion, Director, Office of Women’s Health at the Mayo Clinic, Rochester, Minnesota.

HRT remains the most effective solution for the relief of menopausal symptoms and is also effective for the prevention of osteoporosis. It is thought to be associated with increased risk of stroke and breast cancer, but the risk has not been yet quantified. Dr. Faubion talks about HRT in various clinical settings, including women who have a family history of breast cancer and those with BRCA mutations.







Wednesday, October 18, 2017

Does all ovarian cancer originate in fallopian tube? Increasing evidence suggests so!

John Hopkins Medicine

Most-and possibly all ovarian cancer originates not in ovaries, but instead in the distal end of fallopian tubes attached to them, reports the findings of multi-center ovarian cancer genetics study published October 17, 2017 in Journal Nature Communications.

Douglas A. Levine, MD, director of the Division of Gynecologic Oncology at Perlmutter and professor of Obstetrics and Gynecology at NYU School of Medicine said in a news release, "Based on a better understanding of its origins, our study suggests new strategies for the prevention and early detection of ovarian cancer."

Serous tubal intra-epithelial carcinoma (STIC) are identified as precursors in ~50% cases of advanced high-grade serous carcinomas (HGSCs) of the pelvis. STIC have helped us a lot in understanding the origin of ovarian malignancies. It was originally diagnosed in fimbrial part fallopian tube when researchers examined the serial sections of this area in tube samples in cases of women who underwent prophylactic bilateral salpingo-oophorectomy(BSO).

This discovery led researchers to identify many cases of presumed ovarian cancer to be of tubal origin because of presence of a STIC.

The researchers in this study identified a total of 96 bio specimens’ samples, with or without STIC. 

The median age of the women was 59 years, with majority being Caucasians, with nearly 50% of women in FIGO stage IIIC and all women had HGSCs. Presence or absence of STIC did not change the clinical features or median survival.

In depth a morphologic, immunohistochemical, and molecular analysis of the samples failed to identify any difference in genetic profile of cells from HGSCs vs those from STIC in fallopian tube.
"We found no differences in the 20,000 genes that we can identify," says Levine. "This leads us to believe that that these ovarian cancers all originate in the fallopian tubes."

In fact, HGSCs had molecular profiles more similar to normal fallopian tube epithelium than to ovarian surface epithelium or peritoneum.

This study findings have several implications for early diagnosis of ovarian malignancy. If biomarkers can be identified on these tubal cells, then one day we may be able to diagnose ovarian malignancy by blood test. Since the tube is connected to the uterus, direct tissue sampling can also be carried out in future.

If the study finding is confirmed, then only removing the tubes may reduce the women’s risk of ovarian malignancy in patients with BRCA1 and 2 mutations. In fact, the NYU Langone Health center is  currently participating in a study Women Choosing Surgical Prevention or WISP trial, which is comparing the quality of life in women who have undergo only  salpingectomy as compared to salpingo-oophorectomy.

The researchers believe that it may take years before the study findings are confirmed and translate into actual clinical practice. But, at this stage the study holds a lot of meaning for gynecological oncologists and the evidence is sufficient to support incidental salpingectomy in average-risk women.



Friday, July 7, 2017

NAMS updates its position statement on HRT, clearing five critical areas of confusion.

courtesy: www.renewedvitalitymd.com
The North American Menopause Society has updated its position statement regarding menopausal and post-menopausal hormone therapy, replacing the earlier statement issued in 2012.

Instead of prescribing, “lowest dose for the shortest period of time” which may be harmful for some women, the new emphasis is on “appropriate dose, duration, regimen, and route of administration that provides the most benefit with the minimal amount of risk.”

The new position statement was published online June 21 in NAMS’s Journal Menopause.

Hormone Replacement Therapy remains the most effective treatment for vasomotor symptoms (VMS) and Genitourinary symptoms of menopause (GSM) and helps prevent osteoporosis and fractures.

The US FDA approved indications for starting HRT are bothersome vasomotor symptoms and genitourinary symptoms, Estrogen deficient states caused by premature ovarian insufficiency (POI), hypogonadism and castration and prevention of bone loss.

Women who are seeking relief for bothersome vasomotor symptoms are offered conjugated equine estrogen (CEE) if they already had hysterectomy or it is paired with a progestogen or with bazedoxifene, a selective estrogen-receptor modulator (SERM), to protect users against endometrial cancer.


The statement authors also suggest that micronized progesterone at a dose of 300 mg at bedtime can be an effective treatment to reduce hot flashes and night sweats and improves sleep.

Low dose, intravaginal estrogen preparation is the treatment of choice for women with vulvovaginal atrophy (VVA), because of minimum systemic absorption. For women who are intolerant to estrogen, ospemifene or intravaginal DHEA is equally effective in relieving the symptoms of atrophy. This preparation also bring relief from urinary symptoms.

Systemic Hormonal therapy is not effective in improving urinary incontinence and on the other hand may exacerbate stress incontinence.

HRT in women who have undergone surgical menopause or POI should be started early and at least continued till the age of 52 years.

An important update in this statement was about starting HRT in women with BRCA 1/2 mutation. Dr. JoAnn V. Pinkerton, NAMS executive director said, "For BRCA-positive women without breast cancer who have undergone risk-reducing bilateral salpingoophorectomy, observational data suggest that systemic HRT to the median age of menopause may decrease health risks associated with premature loss of estrogen without increasing breast-cancer risk. "

Physician should be cautious in starting HRT in women who are 10 years past menopause or 60 years old at the time of initiating HRT. In these group of women, the benefit/risk ration is less favorable than for younger women because of increased risk of stroke, CVD, venous thromboembolism and dementia.

If the women are already on HRT, the therapy need not be discontinued abruptly at age 60 or 65 years. It may be continued past 65 years of age for persistent hot flashes, prevention of osteoporosis, and quality-of-life issues, with an open dialogue with the patients about the risk and benefits of HRT at this age.

Once HRT is stopped, in 50% of women, vasomotor symptoms will recur, irrespective of age of starting the therapy or duration of therapy quoted the authors of the statement.

And, nearly all women, will lose [bone-mineral density], with increased risk of bone fractures and excess mortality from hip fracture," they also point out.

Dr Pinkerton added "And the risks of longer use of HRT may be minimized with the use of lower doses of both estrogen and progestogens, the use of transdermal therapies to avoid hepatic first-pass effect, or the combination of conjugated estrogen paired with the SERM bazedoxifene, which provides endometrial protection without the need for a progestogen."

NAMS has also released a patient information sheet called ‘MenoNote’ that simplify the facts and help women to decide using HRT. The ‘MenoNote’ is available on NAMS website. It can be accessed here.